Marcus, Robert A.; Ragozzine, Darin; Murray-Clay, Ruth A.; Holman, Matthew J.
The identification and characterization of numerous collisional families-clusters of bodies with a common collisional origin-in the asteroid belt has added greatly to the understanding of asteroid belt formation and evolution. More recent study has also led to an appreciation of physical processes that had previously been neglected (e.g., the Yarkovsky effect). Collisions have certainly played an important role in the evolution of the Kuiper Belt as well, though only one collisional family has been identified in that region to date, around the dwarf planet Haumea. In this paper, we combine insights into collisional families from numerical simulations with the current observational constraints on the dynamical structure of the Kuiper Belt to investigate the ideal sizes and locations for identifying collisional families. We find that larger progenitors (r ∼ 500 km) result in more easily identifiable families, given the difficulty in identifying fragments of smaller progenitors in magnitude-limited surveys, despite their larger spread and less frequent occurrence. However, even these families do not stand out well from the background. Identifying families as statistical overdensities is much easier than characterizing families by distinguishing individual members from interlopers. Such identification seems promising, provided the background population is well known. In either case, families will also be much easier to study where the background population is small, i.e., at high inclinations. Overall, our results indicate that entirely different techniques for identifying families will be needed for the Kuiper Belt, and we provide some suggestions.
Full Text Available Many methods have been developed to detect coevolution from aligned sequences. However, all the existing methods require a one-to-one mapping of candidate coevolving partners (nucleotides, amino acids a priori. When two families of sequences have distinct duplication and loss histories, ﬁnding the one-to-one mapping of coevolving partners can be computationally involved. We propose an algorithm to identify the coevolving partners from two families of sequences with distinct phylogenetic trees. The algorithm maps each gene tree to a reference species tree, and builds a joint state of sequence composition and assignments of coevolving partners for each species tree node. By applying dynamic programming on the joint states, the optimal assignments can be identiﬁed. Time complexity is quadratic to the size of the species tree, and space complexity is exponential to the maximum number of gene tree nodes mapped to the same species tree node. Analysis on both simulated data and Pfam protein domain sequences demonstrates that the paralog coevolution algorithm picks up the coevolving partners with 60%–88% accuracy. This algorithm extends phylogeny-based coevolutionary models and make them applicable to a wide range of problems such as predicting protein-protein, protein-DNA and DNA-RNA interactions of two distinct families of sequences.
Upregulation of gamma-glutamyl-transpeptidase activity and uric acid level in mixed chemical exposure: implications for mutagenic and preneoplastic events. ... The objective of the study was to determine a possible relationship between GGT, uric acid and the angiogenic agent copper (Cu) in mixed chemical exposure.
Mixed chemical toxicity including genotoxicity is currently a major concern in rapidly industrializing developing countries. Simple biomarkers remain a constraint. Gamma-glutamyl-transpeptidase (GGT), a precursor of glutathione, protects against chemical toxicity including genotoxic effects and may serve as a marker for ...
Alicia Aleli Chaparro Caso López
Full Text Available The objective of this study was to identify profiles of high school students, based on variables related to academic performance, socioeconomic status, cultural capital and family organization. A total of 21,724 high school students, from the five municipalities of the state of Baja California, took part. A K-means cluster analysis was performed to identify the profiles. The analyses identified two clearly-defined clusters: Cluster 1 grouped together students with high academic performance and who achieved higher scores for socioeconomic status, cultural capital and family involvement, whereas Cluster 2 brought together students with low academic achievement, and who also obtained lower scores for socioeconomic status and cultural capital, and had less family involvement. It is concluded that the family variables analyzed form student profiles that can be related to academic achievement.
Employs a contextual effects perspective to identify family, job, and workplace characteristics associated with the use of work-family benefits of 527 employees in 83 businesses. Determined that particular family problems predict female employee use of paid leave and mental health benefits. Summarizes that workplace size, sector, and culture are…
Vidal de Haymes, Maria; Simon, Shirley
The gap between the number of children of color in care and the recruitment of minority foster and adoptive homes has triggered growing support for transracial adoption. This study explored a number of transracial placements and adoptions, with the goal of identifying, from the perspective of the families interviewed, potential services that would…
Moore, B A; Jevons, S; Brammer, K W
Peptidoglycan transpeptidase activity has been studied in cells of Escherichia coli 146 and Pseudomonas aeruginosa 56 made permeable to exogenous, nucleotide-sugar peptidoglycan precursors by ether treatment. Transpeptidase activity was inhibited, in both organisms, by a range of penicillins and cephalosporins, the Pseudomonas enzyme being more sensitive to inhibition in each case. Conversely, growth of E. coli 146 was more susceptible to these antibiotics than growth of P. aeruginosa 56. Furthermore, similar transpeptidase inhibition values were ob-obtained for the four penicillins examined against the Pseudomonas enzyme, although only two of these (carbenicillin and pirbenicillin) inhibited the growth of this organism. We therefore conclude that the high resistance of P. aeruginosa 56 to growth inhibition by most beta-lactam antibiotics cannot be due to an insensitive peptidoglycan transpeptidase.
Piotrowski, J.; Jordan, A.B.; Bleakley, A.; Hennessy, M.
The family system plays an important role in shaping children’s television use. The American Academy of Pediatrics has recommended that parents limit screen time, given the risks associated with children’s heavy television viewing. Researchers have highlighted family television practices that may be
Gupta, Radhika; Lavollay, Marie; Mainardi, Jean-Luc; Arthur, Michel; Bishai, William R; Lamichhane, Gyanu
The peptidoglycan layer is a vital component of the bacterial cell wall. The existing paradigm describes the peptidoglycan network as a static structure that is cross-linked predominantly by 4-->3 transpeptide linkages. However, the nonclassical 3-->3 linkages predominate the transpeptide networking of the peptidoglycan layer of nonreplicating Mycobacterium tuberculosis. The molecular basis of these linkages and their role in the physiology of the peptidoglycan layer, virulence and susceptibility of M. tuberculosis to drugs remain undefined. Here we identify MT2594 as an L,D-transpeptidase that generates 3-->3 linkages in M. tuberculosis. We show that the loss of this protein leads to altered colony morphology, loss of virulence and increased susceptibility to amoxicillin-clavulanate during the chronic phase of infection. This suggests that 3-->3 cross-linking is vital to the physiology of the peptidoglycan layer. Although a functional homolog exists, expression of ldtMt2 is dominant throughout the growth phases of M. tuberculosis. 4-->3 transpeptide linkages are targeted by one of the most widely used classes of antibacterial drugs in human clinical use today, beta-lactams. Recently, meropenem-clavulanate was shown to be effective against drug-resistant M. tuberculosis. Our study suggests that a combination of L,D-transpeptidase and beta-lactamase inhibitors could effectively target persisting bacilli during the chronic phase of tuberculosis.
Romeo, Lucia; Gibelli, Daniele; Giannotta, Federica; Zocchi, Maria T; Rossi, Roberto C; Kustermann, Alessandra; Cattaneo, Cristina
The introduction of the concept of child abuse has radically changed the mode of interaction between pediatricians and children, but also the practice of sanitary personnel in primary care centers, who are often the first to see victims of maltreatment. This study aims at illustrating the results of a questionnaire sent to family doctors, pediatricians and hospitals in Milan and surrounding areas concerning child abuse. Among all the operators, 273 returned the questionnaires. The results show scarce knowledge on how to report to judicial authority in cases of child abuse (51.5%), mainly because of lack of basilar information concerning the manner of reporting. For what concerns specific training, almost half the subjects recruited for the study admitted not to have attended any congress or meeting concerning child maltreatment in the last three years. In the same time span, more than one third has not read any scientific articles concerning child abuse. In addition, 75.6% admit to not ever having attended any professional training course concerning child maltreatment. This study highlights the scarce knowledge on the behalf of pediatricians and general practitioners regarding how to deal with child abuse and the importance of proper training programs.
A case report of a young male with remarkable jaundice due to acute anabolic androgen-induced cholestasis is presented. Interestingly, and #947;-glutamyl transpeptidase remained normal throughout the patient's diagnostic workup. Histopathology was indicative of pure, and ldquo;bland and rdquo; intrahepatic cholestasis with minimal inflammation but significant fibrosis. The patient was successfully treated with ursodeoxycholic acid and glucocorticosteroids. The significance of normal and #947;-glutamyl transpeptidase along with the histopathological findings and the possible pathophysiological mechanisms are finally discussed. [J Interdiscipl Histopathol 2014; 2(2.000: 98-103
Pullum, Thomas; Cappa, Claudia; Orlando, James; Dank, Meredith; Gunn, Susan; Mendenhall, Maury; Riordan, Kate
Methodologies to identify and enumerate children outside of family care vary as do the vulnerability categories of the children themselves. Children outside of family care is a broad term encompassing children absent of permanent family care, e.g., institutionalized children, children on/of the street, child-headed households, separated or…
Full Text Available β-Lactam antibiotics are the drugs of choice to treat pneumococcal infections. The spread of β-lactam-resistant pneumococci is a major concern in choosing an effective therapy for patients. Systematically tracking β-lactam resistance could benefit disease surveillance. Here we developed a classification system in which a pneumococcal isolate is assigned to a “PBP type” based on sequence signatures in the transpeptidase domains (TPDs of the three critical penicillin-binding proteins (PBPs, PBP1a, PBP2b, and PBP2x. We identified 307 unique PBP types from 2,528 invasive pneumococcal isolates, which had known MICs to six β-lactams based on broth microdilution. We found that increased β-lactam MICs strongly correlated with PBP types containing divergent TPD sequences. The PBP type explained 94 to 99% of variation in MICs both before and after accounting for genomic backgrounds defined by multilocus sequence typing, indicating that genomic backgrounds made little independent contribution to β-lactam MICs at the population level. We further developed and evaluated predictive models of MICs based on PBP type. Compared to microdilution MICs, MICs predicted by PBP type showed essential agreement (MICs agree within 1 dilution of >98%, category agreement (interpretive results agree of >94%, a major discrepancy (sensitive isolate predicted as resistant rate of <3%, and a very major discrepancy (resistant isolate predicted as sensitive rate of <2% for all six β-lactams. Thus, the PBP transpeptidase signatures are robust indicators of MICs to different β-lactam antibiotics in clinical pneumococcal isolates and serve as an accurate alternative to phenotypic susceptibility testing.
Kovel, C.G.F. de; Hol, F.A.; Heister, J.G.A.M.; Willemen, J.J.H.T.; Sandkuijl, L.A.; Franke, B.; Padberg, G.W.A.M.
CONTEXT: Dyslexia is a common disorder with a strong genetic component, but despite significant research effort, the aetiology is still largely unknown. OBJECTIVE: To identify loci contributing to dyslexia risk. METHODS: This was a genomewide linkage analysis in a single large family. Dutch families
Hu, H.; Haas, S.A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A.P.M.; Weinert, S.; Froyen, G.; Frints, S.G.M.; Laumonnier, F.; Zemojtel, T.; Love, M.I.; Richard, H.; Emde, A.K.; Bienek, M.
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of ...
Leguay, G; Lafargue, P; Marbot, P; Rassouly, C; Droniou, J; Kermarec, J; Pernod, J
The authors have dosed gamma glutamyl transpeptidase in 42 patients with primary bronchopulmonary cancer, of whom 14 had liver metastases. In these 14 patients the level of gamma glutamyl transpeptidase was always high, except in 1 case; while in the remaining lot, a moderate and mostly belated increase was noticed in only 32 percent of cases. The dosing of gamma glutamyl transpeptidase present some interest in the detection of liver metastases in primary bronchopulmonary cancers, specially when coupled with the dosing of alcaline phosphatase. Interpretation of results should take into account the existence of an associated liver-gall bladder involvement and of a recent surgical operation; both factors being capable of raising the level of gamma glutamyl transpeptidase.
Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola
). We specifically addressed anticipation in phenotypic HNPCC families without disease-predisposing mismatch repair (MMR) defects since risk estimates and age at onset are particularly difficult to determine in this cohort. The national Danish HNPCC register was used to identify families who fulfilled...... the Amsterdam criteria for HNPCC and showed normal MMR function and/or lack of disease-predisposing MMR gene mutation. In total, 319 cancers from 212 parent-child pairs in 99 families were identified. A paired t-test and a bivariate statistical model were used to assess anticipation. Both methods demonstrated...
Gonzalez, Carmanny; Bakas, Tamilyn
Stroke survivor behaviors that caregivers identify as bothersome can lead to family caregiver stress, which can result in premature institutionalization of the survivor. The purpose of this study was to explore demographic and theory-based factors associated with survivor bothersome behaviors as identified by family caregivers. A secondary analysis of a combined sample of 96 family caregivers of stroke survivors was conducted using baseline data from 2 existing studies. Bothersome behaviors were measured using the Revised Memory and Behavior Problems Checklist (RMBPC). Theory-based factors were measured using well-validated scales. Male stroke survivors exhibited more bothersome behaviors (t = 3.53, p nursing interventions designed to reduce bothersome behaviors as identified by family caregivers. PMID:23686515
Koutra, Katerina; Triliva, Sofia; Roumeliotaki, Theano; Lionis, Christos; Vgontzas, Alexandros N
Studies on determinants affecting family functioning of patients with psychosis are still limited in Greece. The aim of this study was to describe the socio-demographic and clinical characteristics associated with family functioning in patients with schizophrenia and bipolar disorder in Crete, Greece. A total of 100 patients and their caregivers agreed to participate in the study. Family functioning was assessed in terms of cohesion, adaptability, communication and satisfaction dimensions (Family Adaptability and Cohesion Evaluation Scale IV Package), expressed emotion (Family Questionnaire), family burden (Family Burden Scale) and caregivers' psychological distress (General Health Questionnaire-28). Multivariate linear regression models were implemented to examine the associations between each one of the family measures and different social and clinical characteristics. With regard to the caregivers' characteristics, gender, employment status, origin, residence, financial status, relation to the patient, contact with the patient and family structure were among the most significant determinants of family functioning. Also, patients' socio-demographic characteristics, including age, education, origin, residence and employment status, as well as illness-related factors, such as onset of mental illness, number of hospitalisations, last hospitalisation, longer hospitalisation and clinical diagnosis impacted intrafamilial relationships. The results of this study suggest that a number of social and clinical factors contributed to the family environment of patients with psychosis. Identifying the determinants of family functioning in psychosis is instrumental in developing understandings regarding the factors which may contribute to the rehabilitation or relapse of the patient and the support required to strengthen positive family interactions. © The Author(s) 2014.
Mareš, Vladislav; Malík, Radek; Lisá, Věra; Šedo, Aleksi
Roč. 136, č. 1-2 (2005), s. 75-80 ISSN 0169-328X R&D Projects: GA ČR(CZ) GA301/02/0962; GA MZd(CZ) NR8105 Institutional research plan: CEZ:AV0Z50110509 Keywords : gamma-glutamyl transpeptidase * reactive C6 astrocytes * oxidative stress Subject RIV: FH - Neurology Impact factor: 1.585, year: 2005
Dubée, Vincent; Triboulet, Sébastien; Mainardi, Jean-Luc; Ethève-Quelquejeu, Mélanie; Gutmann, Laurent; Marie, Arul; Dubost, Lionel
The structure of Mycobacterium tuberculosis peptidoglycan is atypical since it contains a majority of 3→3 cross-links synthesized by l,d-transpeptidases that replace 4→3 cross-links formed by the d,d-transpeptidase activity of classical penicillin-binding proteins. Carbapenems inactivate these l,d-transpeptidases, and meropenem combined with clavulanic acid is bactericidal against extensively drug-resistant M. tuberculosis. Here, we used mass spectrometry and stopped-flow fluorimetry to investigate the kinetics and mechanisms of inactivation of the prototypic M. tuberculosis l,d-transpeptidase LdtMt1 by carbapenems (meropenem, doripenem, imipenem, and ertapenem) and cephalosporins (cefotaxime, cephalothin, and ceftriaxone). Inactivation proceeded through noncovalent drug binding and acylation of the catalytic Cys of LdtMt1, which was eventually followed by hydrolysis of the resulting acylenzyme. Meropenem rapidly inhibited LdtMt1, with a binding rate constant of 0.08 μM−1 min−1. The enzyme was unable to recover from this initial binding step since the dissociation rate constant of the noncovalent complex was low (carbapenem side chains affected both the binding and acylation steps, ertapenem being the most efficient LdtMt1 inactivator. Cephalosporins also formed covalent adducts with LdtMt1, although the acylation reaction was 7- to 1,000-fold slower and led to elimination of one of the drug side chains. Comparison of kinetic constants for drug binding, acylation, and acylenzyme hydrolysis indicates that carbapenems and cephems can both be tailored to optimize peptidoglycan synthesis inhibition in M. tuberculosis. PMID:22615283
Full Text Available S-Alk(enyl-L-cysteine sulfoxides are pharmaceutically important secondary metabolites produced by plants that belong to the genus Allium. Biosynthesis of S-alk(enyl-L-cysteine sulfoxides is initiated by S-alk(enylation of glutathione, which is followed by the removal of glycyl and γ-glutamyl groups and S-oxygenation. However, most of the enzymes involved in the biosynthesis of S-alk(enyl-L-cysteine sulfoxides in Allium plants have not been identified. In this study, we identified three genes, AsGGT1, AsGGT2, and AsGGT3, from garlic (Allium sativum that encode γ-glutamyl transpeptidases catalyzing the removal of the γ-glutamyl moiety from a putative biosynthetic intermediate of S-allyl-L-cysteine sulfoxide (alliin. The recombinant proteins of AsGGT1, AsGGT2, and AsGGT3 exhibited considerable deglutamylation activity toward a putative alliin biosynthetic intermediate, γ-glutamyl-S-allyl-L-cysteine, whereas these proteins showed very low deglutamylation activity toward another possible alliin biosynthetic intermediate, γ-glutamyl-S-allyl-L-cysteine sulfoxide. The deglutamylation activities of AsGGT1, AsGGT2, and AsGGT3 toward γ-glutamyl-S-allyl-L-cysteine were elevated in the presence of the dipeptide glycylglycine as a γ-glutamyl acceptor substrate, although these proteins can act as hydrolases in the absence of a proper acceptor substrate, except water. The apparent Km values of AsGGT1, AsGGT2, and AsGGT3 for γ-glutamyl-S-allyl-L-cysteine were 86 μM, 1.1 mM, and 9.4 mM, respectively. Subcellular distribution of GFP-fusion proteins transiently expressed in onion cells suggested that AsGGT2 localizes in the vacuole, whereas AsGGT1 and AsGGT3 possess no apparent transit peptide for localization to intracellular organelles. The different kinetic properties and subcellular localizations of AsGGT1, AsGGT2, and AsGGT3 suggest that these three GGTs may contribute differently to the biosynthesis of alliin in garlic.
Arrington, Cammon B; Bleyl, Steven B; Brunelli, Luca; Bowles, Neil E
Congenital heart defects (CHDs) are the most common congenital abnormalities. Analysis of large multigenerational families has led to the identification of a number of genes for CHDs. However, identifiable variations in these genes are the cause of a small proportion of cases of CHDs, suggesting significant genetic heterogeneity. In addition, large families with CHDs are rare, making the identification of additional genes difficult. Next-generation sequencing technologies will provide an opportunity to identify more genes in the future. However, the significant genetic variation between individuals will present a challenge to distinguish between 'pathogenic' and 'benign' variants. We have demonstrated that the analysis of multiple individuals in small families using combinations of algorithms can reduce the number of candidate variants to a small, manageable number. Thus, the analysis of small nuclear families or even distantly related 'sporadic' cases may begin to uncover the 'dark matter' of CHD genetics.
Davidson, Judy E; Buenavista, Ruth; Hobbs, Keynan; Kracht, Kathleen
The purpose of this qualitative study was to explore inhibitors and enhancing factors surrounding the practice of allowing family presence in the emergency room. Staff and physician interviews were transcribed and decoded for themes. A visual model was built to depict the results. Inhibitors and enhancing factors included the following drivers: staff emotions, personalizing the patient, seeing/hearing everything, closure, emotional support of the family, and "if it were me." The following staff needs were also identified as important issues that needed to be addressed before practice could change further: staff education, optimize environment for privacy, and implementation of a family liaison. The use of qualitative research methods was effective in identifying organizational barriers to transition of evidence into practice.
Parker, Brian John; Moltke, Ida; Roth, Adam
a comparative method, EvoFam, for genome-wide identification of families of regulatory RNA structures, based on primary sequence and secondary structure similarity. We apply EvoFam to a 41-way genomic vertebrate alignment. Genome-wide, we identify 220 human, high-confidence families outside protein...... identify tens of new families supported by strong evolutionary evidence and other statistical evidence, such as GO term enrichments. For some of these, detailed analysis has led to the formulation of specific functional hypotheses. Examples include two hypothesized auto-regulatory feedback mechanisms: one...... involving six long hairpins in the 3'-UTR of MAT2A, a key metabolic gene that produces the primary human methyl donor S-adenosylmethionine; the other involving a tRNA-like structure in the intron of the tRNA maturation gene POP1. We experimentally validate the predicted MAT2A structures. Finally, we...
Bindal, Shruti; Sharma, Sujata; Singh, Tej P; Gupta, Rani
γ-Glutamyl transpeptidase (GGT) catalyzes the transfer of the γ-glutamyl moiety from donor compounds such as l-glutamine (Gln) and glutathione (GSH) to an acceptor. During the biosynthesis of various γ-glutamyl-containing compounds using GGT enzyme, auto-transpeptidation reaction leads to the formation of unwanted byproducts. Therefore, in order to alter the auto-transpeptidase activity of the GGT enzyme, the binding affinity of Gln should be modified. Structural studies of the Bacillus licheniformis GGT (BlGT) complexed with the glutamic acid has shown that glutamic acid has strong ionic interactions through its α-carboxlic group with the guanidine moiety of Arg109. This interaction appears to be an important contributor for the binding affinity of Gln. In view of this, six mutants of Bacillus licheniformis ER15 GGT (BlGGT) viz. Arg109Lys, Arg109Ser, Arg109Met, Arg109Leu, Arg109Glu and Arg109Phe were prepared. As seen from the structure of BlGT, the mutation of Arg109 to Lys109 may reduce the affinity for Gln to some extent, whereas the other mutations are expected to lower the affinity much more. Biophysical characterization and functional studies revealed that Arg109Lys mutant has increased transpeptidation activity and catalytic efficiency than the other mutants. The Arg109Lys mutant showed high conversion rates for l-theanine synthesis as well. Moreover, the Arg109Met mutant showed increased hydrolytic activity as it completely altered the binding of Gln at the active site. Also, the salt stability of the enzyme was significantly improved on replacing Arg109 by Met109 which is required for hydrolytic applications of GGTs in food industries. Copyright © 2017 Elsevier B.V. All rights reserved.
Smith, Bradley N.; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon; Kenna, Kevin P.; Scotter, Emma L.; Kost, Jason; Keagle, Pamela; Miller, Jack W.; Calini, Daniela; Vance, Caroline; Danielson, Eric W.; Troakes, Claire; Tiloca, Cinzia; Al-Sarraj, Safa; Lewis, Elizabeth A.; King, Andrew; Colombrita, Claudia; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L. M. A.; Sapp, Peter C.; McKenna-Yasek, Diane; McLaughlin, Russell L.; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, José Luis; Simpson, Michael; van Rheenen, Wouter; Diekstra, Frank P.; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Morrison, Karen E.; Williams, Kelly L.; Nicholson, Garth A.; Blair, Ian P.; Dion, Patrick A.; Leblond, Claire S.; Rouleau, Guy A.; Hardiman, Orla; Veldink, Jan H.; van den Berg, Leonard H.; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Glass, Jonathan D.; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H.; Silani, Vincenzo; Shaw, Christopher E.; Landers, John E.; D'alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P.; del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an
Pols, D.H.; Bramer, W.M.; Bindels, P.J.E.; Laar, F.A. van de; Bohnen, A.M.
Physicians and researchers in the field of family medicine often need to find relevant articles in online medical databases for a variety of reasons. Because a search filter may help improve the efficiency and quality of such searches, we aimed to develop and validate search filters to identify
Hu, H; Haas, S.A.; Chelly, J.; Esch, H. Van; Raynaud, M.; Brouwer, A.P. de; Weinert, S.; Froyen, G.; Frints, S.G.; Laumonnier, F.; Zemojtel, T.; Love, M.I.; Richard, H.; Emde, A.K.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M.A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K.L.; Belet, S.; Roozendaal, K.E. van; Jimenez-Pocquet, M.; Moizard, M.P.; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Bommel, A. van; Goke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Muller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L.B.; Wieacker, P.; Rodriguez Criado, G.; Bondeson, M.L.; Anneren, G.; Dufke, A.; Cohen, M.; Maldergem, L. Van; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.H.; Fryns, J.P.; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T.F.; Tzschach, A.; Bokhoven, H. van; Gecz, J.; Jentsch, T.J.; Chen, W.; Ropers, H.H.; Kalscheuer, V.M.
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or
Schnock, Kumiko O; Ravindran, Sucheta S; Fladger, Anne; Leone, Kathleen; Williams, Donna M; Dwyer, Cynthia L; Vu, Thanh-Giang; Thornton, Kevin; Gazarian, Priscilla
Providing information to patients in intensive care units and their families is challenging. Patients often are admitted unexpectedly and experience stress and uncertainty. One source of stress has been identified as unclear, uncoordinated, or inconsistent communication and information. Despite the need for information, no centrally located, easily accessible, standardized intensive care unit education content exists. To identify educational content for patients in the intensive care unit and their families across 4 different hospitals, develop a general content database, and organize the general content into a framework for education of patients and their families. Educational content for patients in the intensive care units of 4 participating hospitals was collected and a gap analysis was performed. Key content format and categories were identified. Educational content was organized into an information pathway divided into 3 phases: intensive care unit arrival; understanding the intensive care unit and partnering in care; and intensive care unit transitions. The gap analysis revealed substantial variation in content format and categories. Structuring a digital learning center using different stages of the patient's stay in the intensive care unit and placing resources in the context of an information pathway can help coordinate education for these patients and their families, and creates a consistent communication guide for clinicians as well. The optimal digital format should be considered in designing the learning center. © 2017 American Association of Critical-Care Nurses.
Qiao, Dandi; Lange, Christoph; Laird, Nan M; Won, Sungho; Hersh, Craig P; Morrow, Jarrett; Hobbs, Brian D; Lutz, Sharon M; Ruczinski, Ingo; Beaty, Terri H; Silverman, Edwin K; Cho, Michael H
Whole-exome sequencing using family data has identified rare coding variants in Mendelian diseases or complex diseases with Mendelian subtypes, using filters based on variant novelty, functionality, and segregation with the phenotype within families. However, formal statistical approaches are limited. We propose a gene-based segregation test (GESE) that quantifies the uncertainty of the filtering approach. It is constructed using the probability of segregation events under the null hypothesis of Mendelian transmission. This test takes into account different degrees of relatedness in families, the number of functional rare variants in the gene, and their minor allele frequencies in the corresponding population. In addition, a weighted version of this test allows incorporating additional subject phenotypes to improve statistical power. We show via simulations that the GESE and weighted GESE tests maintain appropriate type I error rate, and have greater power than several commonly used region-based methods. We apply our method to whole-exome sequencing data from 49 extended pedigrees with severe, early-onset chronic obstructive pulmonary disease (COPD) in the Boston Early-Onset COPD study (BEOCOPD) and identify several promising candidate genes. Our proposed methods show great potential for identifying rare coding variants of large effect and high penetrance for family-based sequencing data. The proposed tests are implemented in an R package that is available on CRAN (https://cran.r-project.org/web/packages/GESE/). © 2017 WILEY PERIODICALS, INC.
Khan, Muzammil Ahmad; Windpassinger, Christian; Ali, Muhammad Zeeshan; Zubair, Muhammad; Gul, Hadia; Abbas, Safdar; Khan, Saadullah; Badar, Muhammad; Mohammad, Ramzi M; Nawaz, Zafar
Autosomal recessive primary microcephaly is a rare genetic disorder that is characterized by reduced head circumference and a varying degree of intellectual disability. Genetic studies on consanguineous families with primary microcephaly have identified 15 (MCPH) causative genes that include MCPH1, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6 MFSD2A ANKLE2 and CIT (Khan et al. 2014; Yamamoto et al. 2014; Alakbarzade et al. 2015;Morris-Rosendahl and Kaindl 2015; Basit et al. 2016). Physiologically, most of these MCPH proteins are involved in cell cycle and its regulation. In the present clinical genetic study, we have present two consanguineous Pakistani families segregating primary microcephaly and intellectual disability. These families were ascertained from the Saraiki ethnic part of Khyber-Pakhtunkhwa province in Pakistan. Whole exome sequencing in one family revealed a novel 1-bp deletion NM_018136.4: c.10013delA (p.Asp3338Valfs*2), while the other family showed a previously reported nonsense mutation NM_018136.4: c.9730C>T (rs199422195 (p.Arg3244*)) in ASPM gene. The novel frame-shift mutation (p.Asp3338Valfs*2) in ASPM presumably truncates the protein synthesis that results in loss of armadillo-type fold domain.
Bisgaard, M L; Ripa, R; Knudsen, Anne Louise
BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. AIMS: The phenotype in patients without an identified causative APC mutation was compared with the phenotype...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...
To this end—following consultations with a panel of internationally recognized scholars—a selection of leading management, marketing and ethics, corporate governance and family firm management journals were reviewed. The results—based on a content analysis of 55 articles considering the global link between RSC and reputation—allowed us to identify, among others, topics related to consumer attitude and market response to CSR activities (via brand value, along with the impact of CSR on financial value and risk management.
Zhang, Tianxiao; Hou, Liping; Chen, David T; McMahon, Francis J; Wang, Jen-Chyong; Rice, John P
Bipolar disorder is a mental illness with lifetime prevalence of about 1%. Previous genetic studies have identified multiple chromosomal linkage regions and candidate genes that might be associated with bipolar disorder. The present study aimed to identify potential susceptibility variants for bipolar disorder using 6 related case samples from a four-generation family. A combination of exome sequencing and linkage analysis was performed to identify potential susceptibility variants for bipolar disorder. Our study identified a list of five potential candidate genes for bipolar disorder. Among these five genes, GRID1(Glutamate Receptor Delta-1 Subunit), which was previously reported to be associated with several psychiatric disorders and brain related traits, is particularly interesting. Variants with functional significance in this gene were identified from two cousins in our bipolar disorder pedigree. Our findings suggest a potential role for these genes and the related rare variants in the onset and development of bipolar disorder in this one family. Additional research is needed to replicate these findings and evaluate their patho-biological significance. Copyright © 2017 Elsevier B.V. All rights reserved.
Hu, H; Haas, S A; Chelly, J; Van Esch, H; Raynaud, M; de Brouwer, A P M; Weinert, S; Froyen, G; Frints, S G M; Laumonnier, F; Zemojtel, T; Love, M I; Richard, H; Emde, A-K; Bienek, M; Jensen, C; Hambrock, M; Fischer, U; Langnick, C; Feldkamp, M; Wissink-Lindhout, W; Lebrun, N; Castelnau, L; Rucci, J; Montjean, R; Dorseuil, O; Billuart, P; Stuhlmann, T; Shaw, M; Corbett, M A; Gardner, A; Willis-Owen, S; Tan, C; Friend, K L; Belet, S; van Roozendaal, K E P; Jimenez-Pocquet, M; Moizard, M-P; Ronce, N; Sun, R; O'Keeffe, S; Chenna, R; van Bömmel, A; Göke, J; Hackett, A; Field, M; Christie, L; Boyle, J; Haan, E; Nelson, J; Turner, G; Baynam, G; Gillessen-Kaesbach, G; Müller, U; Steinberger, D; Budny, B; Badura-Stronka, M; Latos-Bieleńska, A; Ousager, L B; Wieacker, P; Rodríguez Criado, G; Bondeson, M-L; Annerén, G; Dufke, A; Cohen, M; Van Maldergem, L; Vincent-Delorme, C; Echenne, B; Simon-Bouy, B; Kleefstra, T; Willemsen, M; Fryns, J-P; Devriendt, K; Ullmann, R; Vingron, M; Wrogemann, K; Wienker, T F; Tzschach, A; van Bokhoven, H; Gecz, J; Jentsch, T J; Chen, W; Ropers, H-H; Kalscheuer, V M
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
Brcic, Vanessa; Eberdt, Caroline; Kaczorowski, Janusz
Objective. The goal of this pilot study was to develop and field-test questions for use as a poverty case-finding tool to assist primary care providers in identifying poverty in clinical practice. Methods. 156 questionnaires were completed by a convenience sample of urban and rural primary care patients presenting to four family practices in British Columbia, Canada. Univariate and multivariate logistic regression analyses compared questionnaire responses with low-income cut-off (LICO) levels calculated for each respondent. Results. 35% of respondents were below the "poverty line" (LICO). The question "Do you (ever) have difficulty making ends meet at the end of the month?" was identified as a good predictor of poverty (sensitivity 98%; specificity 60%; OR 32.3, 95% CI 5.4-191.5). Multivariate analysis identified a 3-item case-finding tool including 2 additional questions about food and housing security (sensitivity 64.3%; specificity 94.4%; OR 30.2, 95% CI 10.3-88.1). 85% of below-LICO respondents felt that poverty screening was important and 67% felt comfortable speaking to their family physician about poverty. Conclusions. Asking patients directly about poverty may help identify patients with increased needs in primary care.
de Kovel, C G F; Hol, F A; Heister, J G A M; Willemen, J J H T; Sandkuijl, L A; Franke, B; Padberg, G W
Dyslexia is a common disorder with a strong genetic component, but despite significant research effort, the aetiology is still largely unknown. To identify loci contributing to dyslexia risk. This was a genomewide linkage analysis in a single large family. Dutch families with at least two first degree relatives suffering from dyslexia participated in the study. Participants were recruited through an advertisement campaign in papers and magazines. The main outcome measure was linkage between genetic markers and dyslexia phenotype. Using parametric linkage analysis, we found strong evidence for a locus influencing dyslexia on Xq27.3 (multipoint lod = 3.68). Recombinations in two family members flanked an 8 cM region, comprising 11 currently confirmed genes. All four males carrying the risk haplotype had very low scores on the reading tests. The presentation in females was more variable, but 8/9 females carrying the risk haplotype were diagnosed dyslexic by our composite score, so we considered the putative risk allele to be dominant with reduced penetrance. Linkage was not found in an additional collection of affected sibling pairs. A locus influencing dyslexia risk is probably located between markers DXS1227 and DXS8091 on the X chromosome, closely situated to a locus indicated by a published genome scan of English sibling pairs. Although the locus may not be a common cause for dyslexia, the relatively small and gene poor region offers hope to identify the responsible gene.
Quandt, Sara A; Grzywacz, Joseph G; Trejo, Grisel; Arcury, Thomas A
Obesity and overweight are significant problems for children in the US, particularly for Hispanic children. This paper focuses on the children in families of immigrant Hispanic farmworkers, as farm work is the portal though which many immigrants come to the US. This paper (1) describes a model of the nutritional strategies of child feeding in farmworker families; and (2) uses this model to identify leverage points for efforts to improve the nutritional status of these children. In-depth interviews were conducted in Spanish with 33 mothers of 2-5 year old children in farmworker families recruited in North Carolina in 2010-2011. The purposive sample was balanced by farmworker status (migrant or seasonal), child age, and child gender. Interviews were transcribed and translated. Multiple coders and a team approach to analysis were used. Nutritional strategies centered on domains of procuring food, using food, and maintaining food security. The content of these domains reflected environmental factors (e.g., rural isolation, shared housing), contextual factors (e.g., beliefs about appropriate food, parenting style), and available resources (e.g., income, government programs). Environmental isolation and limited access to resources decrease the amount and diversity of household food supplies. Parental actions (parental sacrifices, reduced dietary variety) attempt to buffer children. Use of government food sources is valuable for eligible families. Leverage points are suggested that would change nutritional strategy components and lower the risk of overweight and obesity. Further prospective research is needed to verify the nutritional strategy identified and to test the ability of leverage points to prevent childhood obesity in this vulnerable population. Copyright © 2014 Elsevier Ltd. All rights reserved.
Frère, Jean-Marie; Ghuysen, Jean-Marie; Perkins, Harold R.; Nieto, Manuel
A procedure allowing the purification of milligram amounts of the exocellular dd-carboxypeptidase–transpeptidase from Streptomyces R61 to protein homogeneity (95% purity) is described. The isolated protein has a molecular weight of about 38000 and consists of one polypeptide chain. Its amino acid composition is presented. ImagesPLATE 1 PMID:4772272
Talseth-Palmer, Bente A; Bauer, Denis C; Sjursen, Wenche; Evans, Tiffany J; McPhillips, Mary; Proietto, Anthony; Otton, Geoffrey; Spigelman, Allan D; Scott, Rodney J
Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as they are at substantially increased risk of developing multiple primary tumors, mainly colorectal and endometrial cancer (EC), occurring at a young age. This demonstrates the need to develop new and/or more thorough mutation detection approaches. Next-generation sequencing (NGS) was used to screen 22 genes involved in the DNA MMR pathway in constitutional DNA from 14 HNPCC and 12 sporadic EC patients, plus 2 positive controls. Several softwares were used for analysis and functional annotation. We identified 5 exonic indel variants, 42 exonic nonsynonymous single-nucleotide variants (SNVs) and 1 intronic variant of significance. Three of these variants were class 5 (pathogenic) or class 4 (likely pathogenic), 5 were class 3 (uncertain clinical relevance) and 40 were classified as variants of unknown clinical significance. In conclusion, we have identified two LS families from the sporadic EC patients, one without a family history of cancer, supporting the notion for universal MMR screening of EC patients. In addition, we have detected three novel class 3 variants in EC cases. We have, in addition discovered a polygenic interaction which is the most likely cause of cancer development in a HNPCC patient that could explain previous inconsistent results reported on an intronic EXO1 variant. © 2016 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola
the Amsterdam criteria for HNPCC and showed normal MMR function and/or lack of disease-predisposing MMR gene mutation. In total, 319 cancers from 212 parent-child pairs in 99 families were identified. A paired t-test and a bivariate statistical model were used to assess anticipation. Both methods demonstrated......Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age. Anticipation, expressed as an earlier age at onset in successive generations, has been demonstrated in hereditary nonpolyposis colorectal cancer (HNPCC...... an effect from anticipation with cancer diagnosed mean 11.4 years (t-test, p
Hu, H; Haas, S A; Chelly, J
pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1......). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks...
Dyer, W Justin; Day, Randal D; Harper, James M
Father involvement research has typically not recognized that reports of involvement contain at least two components: 1 reflecting a view of father involvement that is broadly recognized in the family, and another reflecting each reporter's unique perceptions. Using a longitudinal sample of 302 families, this study provides a first examination of shared and unique views of father involvement (engagement and warmth) from the perspectives of fathers, children, and mothers. This study also identifies influences on these shared and unique perspectives. Father involvement reports were obtained when the child was 12 and 14 years old. Mother reports overlapped more with the shared view than father or child reports. This suggests the mother's view may be more in line with broadly recognized father involvement. Regarding antecedents, for fathers' unique view, a compensatory model partially explains results; that is, negative aspects of family life were positively associated with fathers' unique view. Children's unique view of engagement may partially reflect a sentiment override with father antisocial behaviors being predictive. Mothers' unique view of engagement was predicted by father and mother work hours and her unique view of warmth was predicted by depression and maternal gatekeeping. Taken, together finding suggests a far more nuanced view of father involvement should be considered.
Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes. Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bioinformatics analyses. In another eight families segregation of multiple pathogenic variants was observed, affecting 19 genes that were either known or are novel candidates for ID. Transcriptome profiles of normal human brain tissues showed that the novel candidate ID genes formed a network significantly enriched for transcriptional co-expression (P<0.0001) in the frontal cortex during fetal development and in the temporal-parietal and sub-cortex during infancy through adulthood. In addition, proteins encoded by 12 novel ID genes directly interact with previously reported ID proteins in six known pathways essential for cognitive function (P<0.0001). These results suggest that disruptions of temporal parietal and sub-cortical neurogenesis during infancy are critical to the pathophysiology of ID. These findings further expand the existing repertoire of genes involved in ARID, and provide new insights into the molecular mechanisms and the transcriptome map of ID.
Legge, M; Potter, H C
Gamma glutamyl transpeptidase (GGTP) activity was determined in second trimester amniotic fluid taken from normal fetuses and those with fetal abnormalities. GGTP activity decreased with advancing gestation. Increasing meconium contamination correlated with an increase in GGTP activity as did increasing fetal blood contamination. Maternal blood did not affect GGTP activity. Anencephaly did not significantly alter the GGTP activity, however, fetuses with spina bifida had significantly lower activity. Klinefelters and Turners syndromes both had GGTP activity close to the 50th percentile, and two trisomy 21 fetuses had GGTP activity below the 40th percentile. Two trisomy 18 fetuses and two translocation Downs syndromes (46 XY, t (14;21) had GGTP activities considerably lower than the 20th percentile as did a fetus with gastroschisis. Second trimester amniotic fluid GGTP activity may provide an easy preliminary test to screen amniotic fluids for the possibility of certain fetal chromosome abnormalities.
Full Text Available Junie B Billones,1,2 Maria Constancia O Carrillo,1 Voltaire G Organo,1 Stephani Joy Y Macalino,1 Jamie Bernadette A Sy,1 Inno A Emnacen,1 Nina Abigail B Clavio,1 Gisela P Concepcion31Office of the Vice President for Academic Affairs – Emerging Interdisciplinary Research Program: “Computer-aided Discovery of Compounds for the treatment of Tuberculosis in the Philippines,” Department of Physical Sciences and Mathematics, College of Arts and Sciences, 2Institute of Pharmaceutical Sciences, National Institutes of Health, University of the Philippines Manila, Manila, 3Marine Science Institute, University of the Philippines Diliman, Diliman, Quezon City, PhilippinesAbstract: Mycobacterium tuberculosis (Mtb the main causative agent of tuberculosis, is the main reason why this disease continues to be a global public health threat. It is therefore imperative to find a novel antitubercular drug target that is unique to the structural machinery or is essential to the growth and survival of the bacterium. One such target is the enzyme L,D-transpeptidase 2, also known as LdtMt2, a protein primarily responsible for the catalysis of 3→3 cross-linkages that make up the mycolyl–arabinogalactan–peptidoglycan complex of Mtb. In this study, structure-based pharmacophore screening, molecular docking, and in silico toxicity evaluations were employed in screening compounds from a database of synthetic compounds. Out of the 4.5 million database compounds, 18 structures were identified as high-scoring, high-binding hits with very satisfactory absorption, distribution, metabolism, excretion, and toxicity properties. Two out of the 18 compounds were further subjected to in vitro bioactivity assays, with one exhibiting a good inhibitory activity against the Mtb H37Ra strain.Keywords: antituberculosis drug discovery, virtual screening, docking
Dudakova, Lubica; Vercruyssen, Jang Hee J; Balikova, Irina; Postolache, Lavina; Leroy, Bart P; Skalicka, Pavlina; Liskova, Petra
To identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana. Detailed ophthalmological examination and direct sequencing of the KERA coding region in five patients of Czech and Turkish origin and their available family members. Compound heterozygosity for a novel missense mutation c.209C>T; p.(Pro70Leu) and a novel splice site mutation c.887-1G>A in KERA were detected in two affected siblings of Czech origin. In silico analysis supported the pathogenicity of both variants. The second proband of Czech origin harboured c.835C>T; p.(Arg279*) in a homozygous state. Homozygous mutations c.740A>G; p.(Asn247Ser) and c.674C>T; p.(Ile225Thr) were identified in the Turkish probands, both born out of consanguineous marriages. Observed ocular phenotypes were typical of cornea plana with the exception of one Czech patient who also had marked thinning and protrusion in the superior part of the left cornea (mean keratometry 47.2 D). No corneal endothelial cell pathology was found by specular microscopy in seven eyes, in three eyes visualization of the posterior corneal surface was unsuccessful. KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana. Marked corneal thinning and ectasia are a very rare finding in this disorder and longitudinal follow-up needs to be performed to determine its potential progressive nature. © 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
Carter-O'Connell, Ian; Jin, Haihong; Morgan, Rory K; Zaja, Roko; David, Larry L; Ahel, Ivan; Cohen, Michael S
ADP-ribosyltransferases (ARTD1-16) have emerged as major downstream effectors of NAD(+) signaling in the cell. Most ARTDs (ARTD7 and 8, 10-12, and 14-17) catalyze the transfer of a single unit of ADP-ribose from NAD(+) to target proteins, a process known as mono-ADP-ribosylation (MARylation). Progress in understanding the cellular functions of MARylation has been limited by the inability to identify the direct targets for individual mono-ARTDs. Here, we engineered mono-ARTDs to use an NAD(+) analog that is orthogonal to wild-type ARTDs. We profiled the MARylomes of ARTD10 and ARTD11 in vitro, identifying isoform-specific targets and revealing a potential role for ARTD11 in nuclear pore complex biology. We found that ARTD11 targeting is dependent on both its regulatory and catalytic domains, which has important implications for how ARTDs recognize their targets. We anticipate that our chemical genetic strategy will be generalizable to all mono-ARTD family members based on the similarity of the mono-ARTD catalytic domains. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.
Full Text Available ADP-ribosyltransferases (ARTD1–16 have emerged as major downstream effectors of NAD+ signaling in the cell. Most ARTDs (ARTD7 and 8, 10–12, and 14–17 catalyze the transfer of a single unit of ADP-ribose from NAD+ to target proteins, a process known as mono-ADP-ribosylation (MARylation. Progress in understanding the cellular functions of MARylation has been limited by the inability to identify the direct targets for individual mono-ARTDs. Here, we engineered mono-ARTDs to use an NAD+ analog that is orthogonal to wild-type ARTDs. We profiled the MARylomes of ARTD10 and ARTD11 in vitro, identifying isoform-specific targets and revealing a potential role for ARTD11 in nuclear pore complex biology. We found that ARTD11 targeting is dependent on both its regulatory and catalytic domains, which has important implications for how ARTDs recognize their targets. We anticipate that our chemical genetic strategy will be generalizable to all mono-ARTD family members based on the similarity of the mono-ARTD catalytic domains.
Finkenauer, C.; Buyukcan-Tetik, A.; Baumeister, R. F.; Schoemaker, K.; Bartels, M.; Vohs, K. D.
Family violence is common and brings tremendous costs to individuals, relationships, and society. Victims are vulnerable to negative outcomes across a host of dimensions, including cognitive performance, impulse control, emotion regulation, and physical health. Links between family violence and
Chakraborty, A.; Chatterje, M.
Administration of vanadium as ammonium mono-vanadate (0.005 μg/0.1 ml/mouse/day) was found to reduce the tumor cell proliferation in the host mice bearing Dalton's lymphoma. The high activity of γ-glutamyl trans-peptidase (CCT), a neoplastic marker, was seen in the host cells bearing lymphoma. Vanadium effectively prevented an increase in activity of γ-glutamyl trans-peptidase and maintained a sustained low activity of this enzyme. In addition, an improvement of the hematological aspects of the mice and almost fourfold elevation of erythropoietin (Epo) was obtained following vanadium treatment. This in Epo activity may play a vital role in regulating the growth of cellular neoplasia. The present study further confirms the anti-tumorigenic potential of vanadium in the control of tumor progression in lymphoma via modulating several factors involving erythropoiesis and may emerge as a new chemo-preventive agent for the future. (author)
Picot, D; Lauvin, R; Hellegouarc'h, R
The aim of this prospective study was to examine the relationship between gastrointestinal ethanol production ("Mei-Tei-Sho" syndrome described in Japan) and biological liver dysfunction associated with intestinal malabsorption syndromes. Sixty-five patients with malabsorption-diarrhea underwent 98 simultaneous measurements of plasma gamma-glutamyl-transpeptidase and of faecal ethanol concentrations; in 5 cases, ethanolemia and faecal ethanol concentrations were measured after a 250 g rice-meal; in 1, ethanol concentration was measured in a sample of caecal liquid in hours following local instillation of fructose (40 g). Faecal ethanol was detected at least once in 60/65 patients (74/98 measurements, maximum 3.50 g*L-1), more often (98.0%, P fructose instillation was 11.8 g*L-1. Endogenous gastrointestinal ethanol production contributes to elevated gamma-glutamyl-transpeptidase activity observed during malabsorption syndromes.
Kjærgaard, Kasper Aalbæk; Christiansen, Morten Krogh; Schmidt, Morten
BACKGROUND: Heterozygous familial hypercholesterolemia increases the risk of adverse cardiovascular events. Whether affected relatives of probands are at increased risk remains unknown. We aimed to evaluate the long-term cardiovascular risk in heterozygous familial hypercholesterolemia relatives....... CONCLUSION: Heterozygous familial hypercholesterolemia relatives with an LDLR mutation had an increased long-term risk of adverse cardiovascular events....
Wong-Wylie, Gina; Doherty-Poirier, Maryanne; Kieren, Dianne
A study looked at the structural and functional aspects of family from the perspective of six people living with acquired immune deficiency syndrome (AIDS) or human immunodeficiency virus (HIV). Results showing how HIV/AIDS affects all members of the sufferer's family have implications for family practitioners. (Author/JOW)
Full Text Available This work presents the synthesis and use of surface-modified iron oxide nanoparticles for the covalent immobilization of Bacillus licheniformis γ-glutamyl transpeptidase (BlGGT. Magnetic nanoparticles were prepared by an alkaline solution of divalent and trivalent iron ions, and they were subsequently treated with 3-aminopropyltriethoxysilane (APES to obtain the aminosilane-coated nanoparticles. The functional group on the particle surface and the amino group of BlGGT was then cross-linked using glutaraldehyde as the coupling reagent. The loading capacity of the prepared nanoparticles for BlGGT was 34.2 mg/g support, corresponding to 52.4% recovery of the initial activity. Monographs of transmission electron microscopy revealed that the synthesized nanoparticles had a mean diameter of 15.1 ± 3.7 nm, and the covalent cross-linking of the enzyme did not significantly change their particle size. Fourier transform infrared spectroscopy confirmed the immobilization of BlGGT on the magnetic nanoparticles. The chemical and kinetic behaviors of immobilized BlGGT are mostly consistent with those of the free enzyme. The immobilized enzyme could be recycled ten times with 36.2% retention of the initial activity and had a comparable stability respective to free enzyme during the storage period of 30 days. Collectively, the straightforward synthesis of aldehyde-functionalized nanoparticles and the efficiency of enzyme immobilization offer wide perspectives for the practical use of surface-bound BlGGT.
Stole, E.; Seddon, A.P.; Wellner, D.; Meister, A.
γ-Glutamyl transpeptidase an enzyme of major importance in glutathione metabolism, was inactivated by treating it with L-(αS,5S)-α-amino-3-chloro-4,5-dihydro-5-[3- 14 C]isoxazoleacetic acid. This selective reagent binds stoichiometrically to the enzyme; more than 90% of the label was bound to its light subunit. Enzymatic digestion of the light subunit gave a 14 C-labeled peptide that corresponds to amino acid residues 517-527 of the enzyme and two incomplete digestion products that contain this labeled peptide moiety. The radioactivity associated with this peptide was released with threonine-523 during sequencing by the automated gas-phase Edman method. The light subunit contains 14 other threonine residues and a total of 19 serine residues; these were not labeled. Threonine-523 is situated in the enzyme in an environment that greatly increases its reactivity, indicating that other amino acid residues of the enzyme must also participate in the active-site chemistry of the enzyme
Full Text Available Abstract Background The chloroplast-localized ribulose-1, 5-biphosphate carboxylase/oxygenase (Rubisco, the primary enzyme responsible for autotrophy, is instrumental in the continual adaptation of plants to variations in the concentrations of CO2. The large subunit (LSU of Rubisco is encoded by the chloroplast rbcL gene. Although adaptive processes have been previously identified at this gene, characterizing the relationships between the mutational dynamics at the protein level may yield clues on the biological meaning of such adaptive processes. The role of such coevolutionary dynamics in the continual fine-tuning of RbcL remains obscure. Results We used the timescale and phylogenetic analyses to investigate and search for processes of adaptive evolution in rbcL gene in three gymnosperm families, namely Podocarpaceae, Taxaceae and Cephalotaxaceae. To understand the relationships between regions identified as having evolved under adaptive evolution, we performed coevolutionary analyses using the software CAPS. Importantly, adaptive processes were identified at amino acid sites located on the contact regions among the Rubisco subunits and on the interface between Rubisco and its activase. Adaptive amino acid replacements at these regions may have optimized the holoenzyme activity. This hypothesis was pinpointed by evidence originated from our analysis of coevolution that supported the correlated evolution between Rubisco and its activase. Interestingly, the correlated adaptive processes between both these proteins have paralleled the geological variation history of the concentration of atmospheric CO2. Conclusions The gene rbcL has experienced bursts of adaptations in response to the changing concentration of CO2 in the atmosphere. These adaptations have emerged as a result of a continuous dynamic of mutations, many of which may have involved innovation of functional Rubisco features. Analysis of the protein structure and the functional
Sen, Lin; Fares, Mario A; Liang, Bo; Gao, Lei; Wang, Bo; Wang, Ting; Su, Ying-Juan
The chloroplast-localized ribulose-1, 5-biphosphate carboxylase/oxygenase (Rubisco), the primary enzyme responsible for autotrophy, is instrumental in the continual adaptation of plants to variations in the concentrations of CO2. The large subunit (LSU) of Rubisco is encoded by the chloroplast rbcL gene. Although adaptive processes have been previously identified at this gene, characterizing the relationships between the mutational dynamics at the protein level may yield clues on the biological meaning of such adaptive processes. The role of such coevolutionary dynamics in the continual fine-tuning of RbcL remains obscure. We used the timescale and phylogenetic analyses to investigate and search for processes of adaptive evolution in rbcL gene in three gymnosperm families, namely Podocarpaceae, Taxaceae and Cephalotaxaceae. To understand the relationships between regions identified as having evolved under adaptive evolution, we performed coevolutionary analyses using the software CAPS. Importantly, adaptive processes were identified at amino acid sites located on the contact regions among the Rubisco subunits and on the interface between Rubisco and its activase. Adaptive amino acid replacements at these regions may have optimized the holoenzyme activity. This hypothesis was pinpointed by evidence originated from our analysis of coevolution that supported the correlated evolution between Rubisco and its activase. Interestingly, the correlated adaptive processes between both these proteins have paralleled the geological variation history of the concentration of atmospheric CO2. The gene rbcL has experienced bursts of adaptations in response to the changing concentration of CO2 in the atmosphere. These adaptations have emerged as a result of a continuous dynamic of mutations, many of which may have involved innovation of functional Rubisco features. Analysis of the protein structure and the functional implications of such mutations put forward the conclusion that
Abstract Background The chloroplast-localized ribulose-1, 5-biphosphate carboxylase\\/oxygenase (Rubisco), the primary enzyme responsible for autotrophy, is instrumental in the continual adaptation of plants to variations in the concentrations of CO2. The large subunit (LSU) of Rubisco is encoded by the chloroplast rbcL gene. Although adaptive processes have been previously identified at this gene, characterizing the relationships between the mutational dynamics at the protein level may yield clues on the biological meaning of such adaptive processes. The role of such coevolutionary dynamics in the continual fine-tuning of RbcL remains obscure. Results We used the timescale and phylogenetic analyses to investigate and search for processes of adaptive evolution in rbcL gene in three gymnosperm families, namely Podocarpaceae, Taxaceae and Cephalotaxaceae. To understand the relationships between regions identified as having evolved under adaptive evolution, we performed coevolutionary analyses using the software CAPS. Importantly, adaptive processes were identified at amino acid sites located on the contact regions among the Rubisco subunits and on the interface between Rubisco and its activase. Adaptive amino acid replacements at these regions may have optimized the holoenzyme activity. This hypothesis was pinpointed by evidence originated from our analysis of coevolution that supported the correlated evolution between Rubisco and its activase. Interestingly, the correlated adaptive processes between both these proteins have paralleled the geological variation history of the concentration of atmospheric CO2. Conclusions The gene rbcL has experienced bursts of adaptations in response to the changing concentration of CO2 in the atmosphere. These adaptations have emerged as a result of a continuous dynamic of mutations, many of which may have involved innovation of functional Rubisco features. Analysis of the protein structure and the functional implications of such
Jepsen, Allan Dam; Hvam, Lars
In order for companies to make well founded decisions on the product family makeup, an understanding of the correlation between the complexity of the product family and business processes is required, though it is often not available. This paper investigates the potential of using the Product...
Hassan, Karl A.; Jackson, Scott M.; Penesyan, Anahit; Patching, Simon G.; Tetu, Sasha G.; Eijkelkamp, Bart A.; Brown, Melissa H.; Henderson, Peter J. F.; Paulsen, Ian. T.
Chlorhexidine is widely used as an antiseptic or disinfectant in both hospital and community settings. A number of bacterial species display resistance to this membrane-active biocide. We examined the transcriptomic response of a representative nosocomial human pathogen, Acinetobacter baumannii, to chlorhexidine to identify the primary chlorhexidine resistance elements. The most highly up-regulated genes encoded components of a major multidrug efflux system, AdeAB. The next most highly overexpressed gene under chlorhexidine stress was annotated as encoding a hypothetical protein, named here as AceI. Orthologs of the aceI gene are conserved within the genomes of a broad range of proteobacterial species. Expression of aceI or its orthologs from several other γ- or β-proteobacterial species in Escherichia coli resulted in significant increases in resistance to chlorhexidine. Additionally, disruption of the aceI ortholog in Acinetobacter baylyi rendered it more susceptible to chlorhexidine. The AceI protein was localized to the membrane after overexpression in E. coli. This protein was purified, and binding assays demonstrated direct and specific interactions between AceI and chlorhexidine. Transport assays using [14C]-chlorhexidine determined that AceI was able to mediate the energy-dependent efflux of chlorhexidine. An E15Q AceI mutant with a mutation in a conserved acidic residue, although unable to mediate chlorhexidine resistance and transport, was still able to bind chlorhexidine. Taken together, these data are consistent with AceI being an active chlorhexidine efflux protein and the founding member of a family of bacterial drug efflux transporters. PMID:24277845
This study explored the potential for otolith geochemistry in snapper (Family: Lutjanidae) to identify residency in juvenile nursery habitats with distinctive carbon isotope values. Conventional bulk otolith and muscle stable isotope analyses (SIA) and essential amino acid (AA) SIA were conducted on snapper collected from seagrass beds, mangroves, and coral reefs in the Red Sea, Caribbean Sea, and Pacific coast of Panama. While bulk stable isotope values in otoliths showed regional differences, they failed to distinguish nursery residence on local scales. Essential AA δ13C values in otoliths, on the other hand, varied as a function of habitat type and provided a better tracer of residence in different juvenile nursery habitats than conventional bulk otolith SIA alone. A strong linear relationship was found between paired otolith and muscle essential AA δ13C values regardless of species, geographic region, or habitat type, indicating that otolith AAs recorded the same dietary information as muscle AAs. Juvenile snapper in the Red Sea sheltered in mangroves but fed in seagrass beds, while snapper from the Caribbean Sea and Pacific coast of Panama showed greater reliance on mangrove-derived carbon. Furthermore, compound-specific SIA revealed that microbially recycled detrital carbon, not water-column-based new phytoplankton carbon, was the primary carbon source supporting snapper production on coastal reefs of the Red Sea. This study presented robust tracers of juvenile nursery residence that will be crucial for reconstructing ontogenetic migration patterns of fishes among coastal wetlands and coral reefs. This information is key to determining the importance of nursery habitats to coral reef fish populations and will provide valuable scientific support for the design of networked marine-protected areas. © 2011 Springer-Verlag.
McMahon, K. W.; Berumen, M. L.; Mateo, I.; Elsdon, T. S.; Thorrold, S. R.
This study explored the potential for otolith geochemistry in snapper (Family: Lutjanidae) to identify residency in juvenile nursery habitats with distinctive carbon isotope values. Conventional bulk otolith and muscle stable isotope analyses (SIA) and essential amino acid (AA) SIA were conducted on snapper collected from seagrass beds, mangroves, and coral reefs in the Red Sea, Caribbean Sea, and Pacific coast of Panama. While bulk stable isotope values in otoliths showed regional differences, they failed to distinguish nursery residence on local scales. Essential AA δ13C values in otoliths, on the other hand, varied as a function of habitat type and provided a better tracer of residence in different juvenile nursery habitats than conventional bulk otolith SIA alone. A strong linear relationship was found between paired otolith and muscle essential AA δ13C values regardless of species, geographic region, or habitat type, indicating that otolith AAs recorded the same dietary information as muscle AAs. Juvenile snapper in the Red Sea sheltered in mangroves but fed in seagrass beds, while snapper from the Caribbean Sea and Pacific coast of Panama showed greater reliance on mangrove-derived carbon. Furthermore, compound-specific SIA revealed that microbially recycled detrital carbon, not water-column-based new phytoplankton carbon, was the primary carbon source supporting snapper production on coastal reefs of the Red Sea. This study presented robust tracers of juvenile nursery residence that will be crucial for reconstructing ontogenetic migration patterns of fishes among coastal wetlands and coral reefs. This information is key to determining the importance of nursery habitats to coral reef fish populations and will provide valuable scientific support for the design of networked marine-protected areas.
Bottino, Clement J; Rhodes, Erinn T; Kreatsoulas, Catherine; Cox, Joanne E; Fleegler, Eric W
To describe a clinical approach for food insecurity screening incorporating a menu offering food-assistance referrals, and to examine relationships between food insecurity and referral selection. Caregivers of 3- to 10-year-old children presenting for well-child care completed a self-administered questionnaire on a laptop computer. Items included the US Household Food Security Survey Module: 6-Item Short Form (food insecurity screen) and a referral menu offering assistance with: 1) finding a food pantry, 2) getting hot meals, 3) applying for Supplemental Nutrition Assistance Program (SNAP), and 4) applying for Special Supplemental Nutrition Program for Women, Infants, and Children (WIC). Referrals were offered independent of food insecurity status or eligibility. We examined associations between food insecurity and referral selection using multiple logistic regression while adjusting for covariates. A total of 340 caregivers participated; 106 (31.2%) reported food insecurity, and 107 (31.5%) selected one or more referrals. Forty-nine caregivers (14.4%) reported food insecurity but selected no referrals; 50 caregivers (14.7%) selected one or more referrals but did not report food insecurity; and 57 caregivers (16.8%) both reported food insecurity and selected one or more referrals. After adjustment, caregivers who selected one or more referrals had greater odds of food insecurity compared to caregivers who selected no referrals (adjusted odds ratio 4.0; 95% confidence interval 2.4-7.0). In this sample, there was incomplete overlap between food insecurity and referral selection. Offering referrals may be a helpful adjunct to standard screening for eliciting family preferences and identifying unmet social needs. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.
Full Text Available Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during childhood, developing progressively impaired central vision and bilateral atrophic macular lesions in the retinal pigmental epithelium (RPE that resembled a "beaten-bronze" appearance. Peripheral venous blood was obtained from all patients and their family members for genetic analysis. Exome sequencing was used to analyze the exome of two patients II1, II2. A total of 50709 variations shared by the two patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in all family members by PCR and Sanger sequencing. Compound heterozygous variants p.Y808X and p.G607R of the ATP-binding cassette, sub-family A (ABC1, member 4 (ABCA4 gene, which encodes the ABCA4 protein, a member of the ATP-binding cassette (ABC transport superfamily, were identified as causative mutations for Stargardt disease of this family. Our findings provide one novel ABCA4 mutation in Chinese patients with Stargardt disease.
Horton, Amanda L; Momirova, Valerija; Dizon-Townson, Donna; Wenstrom, Katharine; Wendel, George; Samuels, Philip; Sibai, Baha; Spong, Catherine Y; Cotroneo, Margaret; Sorokin, Yoram; Miodovnik, Menachem; O'Sullivan, Mary J; Conway, Deborah; Wapner, Ronald J
To estimate whether there is a correlation between family history of venous thromboembolism and factor V Leiden mutation carriage in gravid women without a personal history of venous thromboembolism. This is a secondary analysis of a prospective observational study of the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden mutation. Family history of venous thromboembolism in either first- or second-degree relatives was self-reported. Sensitivity, specificity, and positive and negative predictive values of family history to predict factor V Leiden mutation carrier status were calculated. Women without a personal venous thromboembolism history and with available DNA were included (n=5,168). One hundred forty women (2.7% [95% confidence interval (CI) 2.3-3.2%]) were factor V Leiden mutation-positive. Four hundred twelve women (8.0% [95% CI 7.3-8.7%]) reported a family history of venous thromboembolism. Women with a positive family history were twofold more likely to be factor V Leiden mutation carriers than those with a negative family history (23 of 412 [5.6%] compared with 117 of 4,756 [2.5%], Pfactor V Leiden carriers were 16.4% (95% CI 10.7-23.6%), 92.3% (95% CI 91.5-93.0%), and 5.6% (95% CI 3.6-8.3%), respectively. Although a family history of venous thromboembolism is associated with factor V Leiden mutation in thrombosis-free gravid women, the sensitivity and positive predictive values are too low to recommend screening women for the factor V Leiden mutation based solely on a family history.
Full Text Available The aim of the current study was to explore the impact of schizophrenia on the life of the patient and his family, in particular, which problems people with schizophrenia and their families face. We applied a qualitative research strategy and method of semi-structured interview. Qualitative analysis of the data demonstrated barriers in the working and financial areas of life of people with schizophrenia. In addition, schizophrenia negatively affects social interactions of patients which lead to their social isolation which is also derived from barriers at work. Families with this kind of patient suffer mainly in the economic sphere of life with the necessity to leave the job and take care of an ill member. These families also suffer from isolation, restriction of social contacts, reduction of free-time activities, and many other problems included within the barriers in social interactions. Family members suffer psychological stress and they badly cope with the situation if the ill member is hospitalized. In addition, the family meets with the structural discrimination in the form of lack of information about the disease, lack of day care centres network and similar barriers in communication with physicians and the other professionals.
Full Text Available Correlated mutation analysis has a long history of interesting applications, mostly in the detection of contact pairs in protein structures. Based on previous observations that, if properly assessed, amino acid correlation data can also provide insights about functional sub-classes in a protein family, we provide a complete framework devoted to this purpose. An amino acid specific correlation measure is proposed, which can be used to build networks summarizing all correlation and anti-correlation patterns in a protein family. These networks can be submitted to community structure detection algorithms, resulting in subsets of correlated amino acids which can be further assessed by specific parameters and procedures that provide insight into the relationship between different communities, the individual importance of community members and the adherence of a given amino acid sequence to a given community. By applying this framework to three protein families with contrasting characteristics (the Fe/Mn-superoxide dismutases, the peroxidase-catalase family and the C-type lysozyme/α-lactalbumin family, we show how our method and the proposed parameters and procedures are related to biological characteristics observed in these protein families, highlighting their potential use in protein characterization and gene annotation.
Canizales-Quinteros, Samuel; Huertas-Vázquez, Adriana; Riba-Ramírez, Laura; Monroy-Guzmán, Adriana; Domínguez-López, Aarón; Romero-Hidalgo, Sandra; Aguilar-Salinas, Carlos; Rodríguez-Torres, Maribel; Ramírez-Jiménez, Salvador; Tusié-Luna, María Teresa
Coronary artery disease and diabetes mellitus are among the primary mortality and morbidity causes in Mexico. Genetic factors play a fundamental role in the development of these entities. In the past few years due to the recognition and study of families with monogenic forms of diabetes and dislipidemias associated with development of atherosclerosis, several genes and loci have been associated with these conditions through genetic linkage studies. These studies have provided evidence of the genetic heterogeneity that exists and the type of genes involved in different ethnic groups. The study of Mexican families with early-onset diabetes and combined familial hyperlipidemia showed the participation of different genetic loci associated with these conditions in the Mexican population. These findings show the value of gene mapping strategies in the identification of the genetic component in these entities in our population.
Spiegler, Stefanie; Rath, Matthias; Hoffjan, Sabine; Dammann, Philipp; Sure, Ulrich; Pagenstecher, Axel; Strom, Tim; Felbor, Ute
Familial cerebral cavernous malformations (CCMs) predispose to seizures and hemorrhagic stroke. Molecular genetic analyses of CCM1, CCM2, and CCM3 result in a mutation detection rate of up to 98%. However, only whole genome sequencing (WGS) in combination with the Manta algorithm for analyses of structural variants revealed a heterozygous 24 kB inversion including exon 1 of CCM2 in a 12-year-old boy with familial CCMs. Its breakpoints were fine-mapped, and quantitative analysis on RNA confirmed reduced CCM2 expression. Our data expand the spectrum of CCM mutations and indicate that the existence of a fourth CCM disease gene is rather unlikely.
Busk, Peter Kamp; Lange, Mette; Lange, Lene
Proteins of the glycosyl hydrolase family 61 (gh61) are important proteins for fungal degradation of biomass. There are 132 entries for gh61 in the CAZY database, no subfamilies have been defined and each fungus may have several gh61s with very different sequences. Alignment of highly divergent s...
D.H.J. Pols (David); W.M. Bramer (Wichor); P.J.E. Bindels (Patrick); F.A. van de Laar (Floris A.); A.M. Bohnen (Arthur)
textabstractPhysicians and researchers in the field of family medicine often need to find relevant articles in online medical databases for a variety of reasons. Because a search filter may help improve the efficiency and quality of such searches, we aimed to develop and validate search filters to
Dufay, J Noelia; Fernández-Murray, J Pedro; McMaster, Christopher R
The SLC25 family member SLC25A38 (Hem25 in yeast) was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis. Mutations in the human SLC25A38 gene cause congenital sideroblastic anemia. The full extent to which SLC25 family members coregulate heme synthesis with other mitochondrial functions is not clear. In this study, we surveyed 29 nonessential SLC25 family members in Saccharomyces cerevisiae for their ability to support growth in the presence and absence of HEM25 Six SLC25 family members were identified that were required for growth or for heme synthesis in cells lacking Hem25 function. Importantly, we determined that loss of function of the SLC25 family member Flx1, which imports FAD into mitochondria, together with loss of function of Hem25, resulted in inability to grow on media that required yeast cells to supply energy using mitochondrial respiration. We report that specific components of complexes of the electron transport chain are decreased in the absence of Flx1 and Hem25 function. In addition, we show that mitochondria from flx1 Δ hem25 Δ cells contain uncharacterized Cox2-containing high molecular weight aggregates. The functions of Flx1 and Hem25 provide a facile explanation for the decrease in heme level, and in specific electron transport chain complex components. Copyright © 2017 Dufay et al.
Oczkowski, Simon J W; Au, Selena; des Ordons, Amanda Roze; Gill, Marlyn; Potestio, Melissa L; Smith, Orla; Sinuff, Tasnim; Stelfox, Henry T; Fox-Robichaud, Alison E
To identify elements which enable patient and family centred care (PFCC) in the intensive care unit (ICU) and priorities for PFCC research. We engaged a panel of multidisciplinary stakeholders in a modified Delphi process. Items generated from a literature review and panelist suggestions were rated in 3 successive rounds on a scale from 1 to 7. Median score was used to rate each item's priority, with 5 or more indicating "essential priority," 4 or 5 "moderate priority" and 3 or less "low priority." Interquartile range (IQR) was used to measure consensus, with IQR of 1 indicating "high" consensus, 2 "moderate" consensus, and 3 or greater "low" consensus. Six items were rated essential elements for facilitating PFCC with high consensus (flexible visiting hours, family participation in bedside care, trained family support person, interventions to facilitate continuity of care, staff education to support families, continuity of staff assignments). Three items were rated essential research topics: interventions to facilitate continuity of care following ICU discharge (moderate consensus), family participation in bedside care (low consensus), and decision aids for end of life decision-making (low consensus). Stakeholders identified clear and distinct priorities for PFCC in clinical care and research, though there was greater consensus for clinical care. Copyright © 2017 Elsevier Inc. All rights reserved.
Full Text Available Abstract Background Wolfram syndrome gene 1 (WFS1 accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family. Methods The Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis. Results Pure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects. Conclusion We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.
Full Text Available BACKGROUND: Genetic variants make some contributions to inflammatory bowel disease (IBD, including Crohn's disease (CD and ulcerative colitis (UC. More than 100 susceptibility loci were identified in Western IBD studies, but susceptibility gene has not been found in Chinese IBD patients till now. Sequencing of individuals with an IBD family history is a powerful approach toward our understanding of the genetics and pathogenesis of IBD. The aim of this study, which focuses on a Han Chinese CD family, is to identify high-risk variants and potentially novel loci using whole exome sequencing technique. METHODS: Exome sequence data from 4 individuals belonging to a same family were analyzed using bioinformatics methods to narrow down the variants associated with CD. The potential risk genes were further analyzed by genotyping and Sanger sequencing in family members, additional 401 healthy controls (HC, 278 sporadic CD patients, 123 UC cases, a pair of monozygotic CD twins and another Chinese CD family. RESULTS: From the CD family in which the father and daughter were affected, we identified a novel single nucleotide variant (SNV c.374T>C (p.I125T in exon 4 of discs large homolog 1 (DLG1, a gene has been reported to play multiple roles in cell proliferation, T cell polarity and T cell receptor signaling. After genotyping among case and controls, a PLINK analysis showed the variant was of significance (PA (p.R278Q in exon 9 of DLG1. CONCLUSIONS: We have discovered novel genetic variants in the coding regions of DLG1 gene, the results support that DLG1 is a novel potential susceptibility gene for CD in Chinese patients.
Li, Xin; Battle, Alexis; Karczewski, Konrad J; Zappala, Zach; Knowles, David A; Smith, Kevin S; Kukurba, Kim R; Wu, Eric; Simon, Noah; Montgomery, Stephen B
Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual's genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which potential impact can be estimated from the genetic code, but determining the impact of rare noncoding variants has been more challenging. To improve our understanding of such variants, we combined high-quality genome sequencing and RNA sequencing data from a 17-individual, three-generation family to contrast expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs) within this family to eQTLs and sQTLs within a population sample. Using this design, we found that eQTLs and sQTLs with large effects in the family were enriched with rare regulatory and splicing variants (minor allele frequency impact of rare noncoding variants. We found that distance to the transcription start site, evolutionary constraint, and epigenetic annotation were considerably more informative for predicting the impact of rare variants than for predicting the impact of common variants. These results highlight that rare noncoding variants are important contributors to individual gene-expression profiles and further demonstrate a significant capability for genomic annotation to predict the impact of rare noncoding variants. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.
Lin, Long-Liu; Merlino, Antonello
An additional example in which heterogeneous nucleation has helped in the search for crystallization conditions of a protein is reported. Optimization of the crystallization conditions led to the formation of single crystals of γ-glutamyl transpeptidase from B. licheniformis that diffracted to about 3.0 Å resolution. Here, the crystallization and preliminary X-ray diffraction studies of Bacillus licheniformis γ-glutamyl transpeptidase (BlGT) are reported. The serendipitous finding of heterogeneous nucleants in the initial experiments provided the first crystallization conditions for the protein. Crystals were grown by hanging-drop vapour diffusion using a precipitant solution consisting of 20%(w/v) PEG 3350, 0.2 M magnesium chloride hexahydrate, 0.1 M Tris–HCl pH 8.2. The protein crystallized in the orthorhombic space group P2 1 2 1 2 1 , with one heterodimer per asymmetric unit and unit-cell parameters a = 60.90, b = 61.97, c = 148.24 Å. The BlGT crystals diffracted to 2.95 Å resolution
Debbie S Kuo
Full Text Available Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was to identify a possible causative mutation in this family and to investigate its pathogenesis.We performed exome sequencing and identified a putative mutation in gap junction protein α8 (GJA8. We used PCR and DNA sequencing of GJA8 in affected and unaffected members of the pedigree to test segregation of the variant with the phenotype. We tested cellular distribution and function of the variant protein by immunofluorescence and intercellular transfer of Neurobiotin in transiently transfected HeLa cells.Exome sequencing revealed a variant in GJA8 (c.658A>G encoding connexin50 (Cx50 that resulted in a missense change (p.N220D in transmembrane domain 4. The variant was present in all three affected family members, but was also present in the proband's grandfather who was reported to be unaffected. The mutant protein localized to the plasma membrane and supported intercellular Neurobiotin transfer in HeLa cells.We identified a variant in transmembrane domain 4 of Cx50 in a family with autosomal dominant congenital cataracts. This variant has been previously identified in other cataract cohorts, but it is also present in unaffected individuals. Our study demonstrates that the mutant protein localized to the plasma membrane and formed functional intercellular channels. These data suggest that GJA8 c.658A>G is most likely a benign rare variant.
Baker, Francis X; Gallagher, Colleen M
Undue influence from family members of patients with advanced cancer remains a serious ethical problem in end-of-life decision making. Despite the wealth of articles discussing the problem of undue influence, little has been written by way of practical guidance to help clinicians identify and effectively manage situations of undue influence. This article briefly lays out how to identify and manage situations of undue influence sensitively and effectively. We explain how undue influence may present itself in the clinic and distinguish it from ethically permissible expressions of relational autonomy. In addition, we lay out a process by which any clinician suspecting undue influence may gather additional information and, if necessary, conduct a family meeting to address the undue influence. It is our hope that by providing clinicians at all levels of patient care with such guidance, they will feel empowered to respond to cases of undue influence when they arise.
Full Text Available We report three adult sibs (one female, two males with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A>G, c.1154C>T. These results reinforce the notion that abnormal metabolite levels in newborns may lead to the diagnosis of adult metabolic disease in the mother and potentially other family members.
García, Elizabeth A; Ziliani, María; Agüero, Fernán; Bernabó, Guillermo; Sánchez, Daniel O; Tekiel, Valeria
The identification and characterization of antigens expressed in Trypanosoma cruzi stages that parasitize mammals are essential steps for the development of new vaccines and diagnostics. Genes that are preferentially expressed in trypomastigotes may be involved in key processes that define the biology of trypomastigotes, like cell invasion and immune system evasion. With the initial aim of identifying trypomastigote-specific expressed tags, we constructed and sequenced an epimastigote-subtracted trypomastigote cDNA library (library TcT-E). More than 45% of the sequenced clones of the library could not be mapped to previously annotated mRNAs or proteins. We validated the presence of these transcripts by reverse northern blot and northern blot experiments, therefore providing novel information about the mRNA expression of these genes in trypomastigotes. A 280-bp consensus element (TcT-E element, TcT-Eelem) located at the 3' untranslated region (3' UTR) of many different open reading frames (ORFs) was identified after clustering the TcT-E dataset. Using an RT-PCR approach, we were able to amplify different mature mRNAs containing the same TcT-Eelem in the 3' UTR. The proteins encoded by these ORFs are members of a novel surface protein family in T. cruzi, (which we named TcTASV for T. cruzi Trypomastigote, Alanine, Serine and Valine rich proteins). All members of the TcTASV family have conserved coding amino- and carboxy-termini, and a central variable core that allows partitioning of TcTASV proteins into three subfamilies. Analysis of the T. cruzi genome database resulted in the identification of 38 genes/ORFs for the whole TcTASV family in the reference CL-Brener strain (lineage II). Because this protein family was not found in other trypanosomatids, we also looked for the presence of TcTASV genes in other evolutionary lineages of T. cruzi, sequencing 48 and 28 TcTASVs members from the RA (lineage II) and Dm28 (lineage I) T. cruzi strains respectively. Detailed
Elizabeth A García
Full Text Available BACKGROUND: The identification and characterization of antigens expressed in Trypanosoma cruzi stages that parasitize mammals are essential steps for the development of new vaccines and diagnostics. Genes that are preferentially expressed in trypomastigotes may be involved in key processes that define the biology of trypomastigotes, like cell invasion and immune system evasion. METHODOLOGY/PRINCIPAL FINDINGS: With the initial aim of identifying trypomastigote-specific expressed tags, we constructed and sequenced an epimastigote-subtracted trypomastigote cDNA library (library TcT-E. More than 45% of the sequenced clones of the library could not be mapped to previously annotated mRNAs or proteins. We validated the presence of these transcripts by reverse northern blot and northern blot experiments, therefore providing novel information about the mRNA expression of these genes in trypomastigotes. A 280-bp consensus element (TcT-E element, TcT-Eelem located at the 3' untranslated region (3' UTR of many different open reading frames (ORFs was identified after clustering the TcT-E dataset. Using an RT-PCR approach, we were able to amplify different mature mRNAs containing the same TcT-Eelem in the 3' UTR. The proteins encoded by these ORFs are members of a novel surface protein family in T. cruzi, (which we named TcTASV for T. cruzi Trypomastigote, Alanine, Serine and Valine rich proteins. All members of the TcTASV family have conserved coding amino- and carboxy-termini, and a central variable core that allows partitioning of TcTASV proteins into three subfamilies. Analysis of the T. cruzi genome database resulted in the identification of 38 genes/ORFs for the whole TcTASV family in the reference CL-Brener strain (lineage II. Because this protein family was not found in other trypanosomatids, we also looked for the presence of TcTASV genes in other evolutionary lineages of T. cruzi, sequencing 48 and 28 TcTASVs members from the RA (lineage II and Dm28
Mala, Sankeerti; Rathod, Vanita; Pundir, Siddharth; Dixit, Sudhanshu
The unique pattern and structural diversity of fingerprints, lip prints, palatal rugae, and their occurrence in different patterns among individuals make it questionable whether they are completely unique even in a family hierarchy? Do they have any repetition of the patterns among the generations? Or is this a mere chaos theory? The present study aims to assess the pattern self-repetition of fingerprints, lip prints, and palatal rugae among three generations of ten different families. The present study was conducted at Rungta College of Dental Science and Research, Bhilai, India. Participants birth by origin of Chhattisgarh were only included in the study. Thirty participants from three consecutive generations of ten different families were briefed about the purpose of the study, and their fingerprints, lip prints, and palatal rugae impression were recorded and analyzed for the pattern of self-repetition. Multiple comparisons among the generations and one-way analysis of variance test were performed using SPSS 20 trial version. Among the pattern of primary palatal rugae, 10% showed repetition in all the three generations. Thirty percent showed repetition of the pattern of thumb fingerprints in all the three generation. The pattern of lip prints in the middle 1/3 rd of lower lip, 20% showed repetition in alternative generations. The evaluations of fingerprints, lip prints, and palatal rugae showed fractal dimensions, occurring variations in dimensions according to the complexity of each structure. Even though a minute self-repetition in the patterns of lip, thumb, and palate among the three consequent generations in a family was observed considering the sample size, these results need to be confirmed in a larger sample, either to establish the role of chaos theory in forensic science or identifying a particular pattern of the individual in his family hierarchy.
Druley, Todd E; Wang, Lihua; Lin, Shiow J
: We performed custom hybridization capture sequencing to identify the functional variants in 464 candidate genes for longevity or the major diseases of aging in 615 pedigrees (4,953 individuals) from the LLFS, using a multiplexed, custom hybridization capture. Variants were analyzed individually...... from six pedigrees. OBFC1 (chromosome 10) is involved in telomere maintenance, and falls within a linkage peak recently reported from an analysis of telomere length in LLFS families. Two different algorithms for single gene associations identified three genes with an enrichment of variation...
Beach, Renee A.; Eva, Kevin W.; Reiter, Harold I.
Purpose: Self-declaration of personal values has been suggested as a means of identifying students with greater predilection for future primary care careers. While statistically significant differences have been demonstrated, absolute differences between those interested in primary care and those interested in specialist careers tend to be small.…
Wu, Nini; Hou, Yang; Wang, Qian; Yu, Chengfu
Parents' educational aspirations for youth play an important role in shaping youth's own educational aspirations; however, little is known about how and in what context parents may transmit their aspirations to youth effectively. This is of particular interest and import to be examined in Chinese families, given Chinese cultural emphasis on educational achievement and Chinese youth's outstanding academic performance internationally. By integrating several key theories of motivation and parental socialization (i.e., the expectancy-value model of academic achievement, the two-step model of value transmission, the contextual model of parenting, and the self-determination theory), the current study investigated simultaneously the mediating roles of parental involvement in youth's learning and youth's perceptions of parental aspirations, as well as the moderating role of parental warmth in the intergenerational transmission process of educational aspirations in Chinese families. A two-wave longitudinal study spanning about half a year was conducted among 323 Chinese seventh graders (54% female; M age = 13.25 years) and one of their parents (median educational attainment = completion of high school, median monthly income = USD 766-1226). It was found that parental educational aspirations for youth were related positively both indirectly through parental involvement and directly to youth's perceptions of parental aspirations, which in turn were associated positively with youth's own educational aspirations about half a year later. It was also found that parental educational aspirations for youth and youth's own educational aspirations were associated positively with each other only when youth reported experiencing high levels of parental warmth, but unrelated when youth reported experiencing low levels of parental warmth, whereas such moderating effects of parental warmth were absent on the links from parental aspirations to youth's perceptions of parental
Full Text Available Nocturnal frontal lobe epilepsy has been historically considered a channelopathy caused by mutations in subunits of the neuronal nicotinic acetylcholine receptor or in a recently reported potassium channel. However, these mutations account for only a minority of patients, and the existence of at least a new locus for the disease has been demonstrated. In 2005, we detected two nucleotide variations in the promoter of the CRH gene coding for the corticotropin releasing hormone in 7 patients. These variations cosegregated with the disease and were demonstrated to alter the cellular levels of this hormone. Here, we report the identification in an Italian affected family of a novel missense mutation (hpreproCRH p.Pro30Arg located in the region of the CRH coding for the protein pro-sequence. The mutation was detected in heterozygosity in the two affected individuals. In vitro assays demonstrated that this mutation results in reduced levels of protein secretion in the short time thus suggesting that mutated people could present an altered capability to respond immediately to stress agents.
Guček, Nena Kopčavar; Selič, Polona
This multi-centre cross-sectional study explored associations between prevalence of depression and exposure to intimate partner violence (IPV) at any time in patients' adult life in 471 participants of a previous IPV study. In 2016, 174 interviews were performed, using the Short Form Domestic Violence Exposure Questionnaire, the Zung Scale and questions about behavioural patterns of exposure to IPV. Family doctors reviewed patients' medical charts for period from 2012 to 2016, using the Domestic Violence Exposure Medical Chart Check List, for conditions which persisted for at least three years. Depression was found to be associated with any exposure to IPV in adult life and was more likely to affect women. In multivariable logistic regression modelling, factors associated with self-rated depression were identified (p < 0.05). Exposure to emotional and physical violence was identified as a risk factor in the first model, explaining 23% of the variance. The second model explained 66% of the variance; past divorce, dysfunctional family relationships and a history of incapacity to work increased the likelihood of depression in patients. Family doctors should consider IPV exposure when detecting depression, since lifetime IPV exposure was found to be 40.4% and 36.9% of depressed revealed it.
Zhang, Ying; Wei, Min; Shen, Nanping; Zhang, Yaqing
This study was designed to determine the key predictors for each aspect of family management of families with children who have chronic conditions in China. The participants included 399 caregivers whose children have chronic illnesses. We used the following instruments: Child Behavior Checklist; Feetham Family Functioning Survey; and Family Management Measures. The final modes of the hierarchical regression explained 29-48% of the variance in aspects of family management. More family support should be provided for those with low family income, children with renal and genetic disorders and rheumatic diseases and those living in rural areas. Child and family functioning affects family management. Copyright © 2015 Elsevier Inc. All rights reserved.
Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y
and BRCA2 in high risk breast and/or ovarian cancer families. The mutations were detected via pre-screening using dHPLC or high-resolution melting and direct sequencing. We identified 16 variants in BRCA1, including 9 deleterious frame-shift mutations, 2 intronic variants, 4 missense mutations, and 1......Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1...... synonymous variant. The remaining 24 variants were identified in BRCA2, including 10 deleterious mutants (6 frame-shift and 4 nonsense), 2 intronic variants, 10 missense mutations and 2 synonymous variants. The frequency of the variants of unknown significance was examined in control individuals. Moreover...
Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y
Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1...... and BRCA2 in high risk breast and/or ovarian cancer families. The mutations were detected via pre-screening using dHPLC or high-resolution melting and direct sequencing. We identified 16 variants in BRCA1, including 9 deleterious frame-shift mutations, 2 intronic variants, 4 missense mutations, and 1......, the presumed significance of the missense mutations was predicted in silico using the align GVGD algorithm. In conclusion, the mutation screening identified 40 novel variants in the BRCA1 and BRCA2 genes and thereby extends the knowledge of the BRCA1/BRCA2 mutation spectrum. Nineteen of the mutations were...
Inanloorahatloo, Kolsoum; Zand Parsa, Amir Farhang; Huse, Klaus; Rasooli, Paniz; Davaran, Saeid; Platzer, Matthias; Fan, Jian-Bing; Amini, Sasan; Steemers, Frank; Elahi, Elahe
Coronary artery disease (CAD) is a leading cause of death worldwide. Myocardial infarction is the most severe outcome of CAD. Despite extensive efforts, the genetics of CAD is poorly understood. We aimed to identify the genetic cause of CAD in a pedigree with several affected individuals. Exome sequencing led to identification of a mutation in CYP27A1 that causes p.Arg225His in the encoded protein sterol 27-hydroxylase as the likely cause of CAD in the pedigree. The enzyme is multifunctional, and several of its functions including its functions in vitamin D metabolism and reverse cholesterol transport (RCT) are relevant to the CAD phenotype. Measurements of vitamin D levels suggested that the mutation does not affect CAD by affecting this parameter. We suggest that the mutation may cause CAD by affecting RCT. Screening of all coding regions of the CYP27A1 in 100 additional patients led to finding four variations (p.Arg14Gly, p.Arg26Lys, p.Ala27Arg, and p.Val86Met) in seven patients that may contribute to their CAD status. CYP27A1 is the known causative gene of cerebrotendinous xanthomatosis, a disorder which is sometimes accompanied by early onset atherosclerosis. This and the observation of potentially harmful variations in unrelated CAD patients provide additional evidence for the suggested causative role of the p.Arg225His mutation in CAD. Copyright © 2013 Elsevier Masson SAS. All rights reserved.
Kawamoto, T; Matsuno, K; Kayama, F; Arashidani, K; Yoshikawa, M; Kodama, Y
In this paper, we determined whether ethylene glycol monomethyl ether (EGME) and diethylene glycol monomethyl ether (diEGME) induce hepatic gamma-glutamyl transpeptidase activity. Male adult Wistar rats weighing 220 g were used as experimental animals. EGME (100, 300 mg/kg per day) and diEGME (500, 1000, 2000 mg/kg per day) were administered by gavage for 1, 2 or 5 days or 4 weeks. In the 4-week study, experimental animals were administered EGME or diEGME once a day orally, 5 days/week. EGME treatment increased the serum gamma-glutamyl transpeptidase (GGT) level significantly, however, diEGME did not. The activities of three other enzymes (SGOT, SGPT and ALP) in serum were not altered by EGME or diEGME treatment and thus there was no biochemical indices of hepatic damage by EGME or diEGME. EGME treatment increased the GGT activities in the liver and lungs. Of the organs examined, the induction of GGT was the greatest in the liver. The inducibility in the liver was 216% for the 5-day treatment and 460% for the 4-week treatment. A dose-dependent increase of hepatic microsomal GGT activity by EGME was observed. On the other hand, renal GGT activities were declined to 72% and 60% of control by the 5-day and 4-week EGME treatments, respectively. DiEGME did not affect the GGT activities in any of the tissues except those of the brain. In the histochemical study, most hepatocytes at the periportal zones were stained with GGT staining after the 4-week treatment. However, the hepatocytes at the central zones were negative.
Full Text Available Abstract Background It has been speculated that the γ-glutamyl transpeptidase (ggt gene is present only in Neisseria meningitidis and not among related species such as Neisseria gonorrhoeae and Neisseria lactamica, because N. meningitidis is the only bacterium with GGT activity. However, nucleotide sequences highly homologous to the meningococcal ggt gene were found in the genomes of N. gonorrhoeae isolates. Results The gonococcal homologue (ggt gonococcal homologue; ggh was analyzed. The nucleotide sequence of the ggh gene was approximately 95 % identical to that of the meningococcal ggt gene. An open reading frame in the ggh gene was disrupted by an ochre mutation and frameshift mutations induced by a 7-base deletion, but the amino acid sequences deduced from the artificially corrected ggh nucleotide sequences were approximately 97 % identical to that of the meningococcal ggt gene. The analyses of the sequences flanking the ggt and ggh genes revealed that both genes were localized in a common DNA region containing the fbp-ggt (or ggh-glyA-opcA-dedA-abcZ gene cluster. The expression of the ggh RNA could be detected by dot blot, RT-PCR and primer extension analyses. Moreover, the truncated form of ggh-translational product was also found in some of the gonococcal isolates. Conclusion This study has shown that the gonococcal ggh gene is a pseudogene of the meningococcal ggt gene, which can also be designated as Ψggt. The gonococcal ggh (Ψggt gene is the first identified bacterial pseudogene that is transcriptionally active but phenotypically silent.
Abu-Farha, Mohamed; Lanouette, Sylvain; Elisma, Fred; Tremblay, Véronique; Butson, Jeffery; Figeys, Daniel; Couture, Jean-François
The SMYD (SET and MYND domain) family of lysine methyltransferases (KMTs) plays pivotal roles in various cellular processes, including gene expression regulation and DNA damage response. Initially identified as genuine histone methyltransferases, specific members of this family have recently been shown to methylate non-histone proteins such as p53, VEGFR, and the retinoblastoma tumor suppressor (pRb). To gain further functional insights into this family of KMTs, we generated the protein interaction network for three different human SMYD proteins (SMYD2, SMYD3, and SMYD5). Characterization of each SMYD protein network revealed that they associate with both shared and unique sets of proteins. Among those, we found that HSP90 and several of its co-chaperones interact specifically with the tetratrico peptide repeat (TPR)-containing SMYD2 and SMYD3. Moreover, using proteomic and biochemical techniques, we provide evidence that SMYD2 methylates K209 and K615 on HSP90 nucleotide-binding and dimerization domains, respectively. In addition, we found that each methylation site displays unique reactivity in regard to the presence of HSP90 co-chaperones, pH, and demethylation by the lysine amine oxidase LSD1, suggesting that alternative mechanisms control HSP90 methylation by SMYD2. Altogether, this study highlights the ability of SMYD proteins to form unique protein complexes that may underlie their various biological functions and the SMYD2-mediated methylation of the key molecular chaperone HSP90.
Zhou, Sirui; Gan-Or, Ziv; Ambalavanan, Amirthagowri; Lai, Dongbing; Xie, Pingxing; Bourassa, Cynthia V; Strong, Stephanie; Ross, Jay P; Dionne-Laporte, Alexandre; Spiegelman, Dan; Dupré, Nicolas; Foroud, Tatiana M; Xiong, Lan; Dion, Patrick A; Rouleau, Guy A
Intracranial Aneurysm (IA) is a common disease with a worldwide prevalence of 1-3%. In the French-Canadian (FC) population, where there is an important founder effect, the incidence of IA is higher and is frequently seen in families. In this study, we genotyped a cohort of 257 mostly familial FC IA patients and 1,992 FC controls using the Illumina NeuroX SNP-chip. The most strongly associated loci were tested in 34 Inuit IA families and in 32 FC IA patients and 106 FC controls that had been exome sequenced (WES). After imputation, one locus at 3p14.2 (FHIT, rs1554600, p = 4.66 × 10 -9 ) reached a genome-wide significant level of association and a subsequent validation in Nunavik Inuit cohort further confirmed the significance of the FHIT variant association (rs780365, FBAT-O, p = 0.002839). Additionally, among the other promising loci (p < 5 × 10 -6 ), the one at 3q13.2 (rs78125721, p = 4.77 × 10 -7 ), which encompasses CCDC80, also showed an increased mutation burden in the WES data (CCDC80, SKAT-O, p = 0.0005). In this study, we identified two new potential IA loci in the FC population: FHIT, which is significantly associated with hypertensive IA, and CCDC80, which has potential genetic and functional relevance to IA pathogenesis, providing evidence on the additional risk loci for familial IA. We also replicated the previous IA GWAS risk locus 18q11.2, and suggested a potential locus at 8p23.1 that warrants further study.
Manning, Joseph C; Hemingway, Pippa; Redsell, Sarah A
The involvement of patients and the public in the development, implementation and evaluation of health care services and research is recognized to have tangible benefits in relation to effectiveness and credibility. However, despite >96% of children and young people surviving critical illness or injury, there is a paucity of published reports demonstrating their contribution to informing the priorities for aftercare services and outcomes research. We aimed to identify the service and research priorities for Paediatric Intensive Care Unit survivors with children and young people, their families and other stakeholders. We conducted a face-to-face, multiple-stakeholder consultation event, held in the Midlands (UK), to provide opportunities for experiences, views and priorities to be elicited. Data were gathered using write/draw and tell and focus group approaches. An inductive content analytical approach was used to categorize and conceptualize feedback. A total of 26 individuals attended the consultation exercise, including children and young people who were critical care survivors; their siblings; parents and carers; health professionals; academics; commissioners; and service managers. Consultation findings indicated that future services, interventions and research must be holistic and family-centred. Children and young people advisors reported priorities that focused on longer-term outcomes, whereas adult advisors identified priorities that mapped against the pathways of care. Specific priorities included developing and testing interventions that address unmet communication and information needs. Furthermore, initiatives to optimize the lives and longer-term functional and psycho-social outcomes of Paediatric Intensive Care Unit survivors were identified. This consultation exercise provides further evidence of the value of meaningful patient and public involvement in identifying the priorities for research and services for Paediatric Intensive Care Unit survivors
Michelle Meyer, BA
Full Text Available Background: Effective strategies to identify and screen children at risk for HIV are needed. The objectives of this study were to evaluate the utilization of a family information table (FIT to identify and test at-risk children in Kenya and identify factors associated with child testing. Methods: A cross-sectional study was conducted among HIV-infected adults with children at five Kenyan clinics. HIV testing status for children aged ≤18 years was gathered from the patients’ FITs and compared to reports from in-person clinic visits as the gold standard. Generalized estimating equations were used to assess predictors for HIV testing of children adjusted for confounders and within parent correlation. Results: Our sample included 384 HIV-infected adults enrolled in care with 933 reported children. Overall, 323 FITs (84% correctly listed all children in the family and 340 (89% documented an HIV testing status (including untested for all children. Seventy-five percent of parents verbally reported all children tested, compared to only 46% of FITs (OR=13.5, 95% CI 6.5-27.8. Verbal reports identified 739 (79% children tested, with 55 (7.4% HIV-positive and 17 (2.3% HIV-exposed infants (HEI. Of 63 adults with HIV-positive children or HEI, 60 (95% reported enrolling children into care. Likelihood that children had been tested was higher for younger children (≤4y vs. > 4y, aOR=2.0; 95% CI 1.4-2.9 and lower if the partner’s serostatus was unknown vs. seropositive (aOR=0.3; 95% CI: 0.1-0.8. Conclusions: Although the FIT may be a useful tool to identify children at risk for HIV, this study found underutilization by providers. To maximize impact of this tool, documentation of follow-up for untested and positive children is essential. Global Health Implications: Through early documentation of at-risk children and follow up of untested and infected children, the FIT may serve as an effective resource for improving HIV testing and linkage to care.
Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S
-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192......*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole......-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15...
Gershoni, Moran; Hauser, Ron; Yogev, Leah; Lehavi, Ofer; Azem, Foad; Yavetz, Haim; Pietrokovski, Shmuel; Kleiman, Sandra E
Up to 1% of all men experience azoospermia, a condition of complete absence of sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly studied in model organisms, and their relevance to humans is unclear because human genetic studies are very scarce. Our objective was to uncover novel human mutations and genes causing azoospermia due to testicular meiotic maturation arrest. Affected and unaffected siblings from three families were subjected to whole-exome or whole-genome sequencing, followed by comprehensive bioinformatics analyses to identify mutations suspected to cause azoospermia. These likely mutations were further screened in azoospermic and normozoospermic men and in men proven to be fertile, as well as in a reference database of local populations. We identified three novel likely causative mutations of azoospermia in three genes: MEIOB, TEX14, and DNAH6. These genes are associated with different meiotic processes: meiotic crossovers, daughter cell abscission, and possibly rapid prophase movements. The genes and pathways we identified are fundamental for delineating common causes of azoospermia originating in mutations affecting diverse meiotic processes and have great potential for accelerating approaches to diagnose, treat, and prevent infertility.Genet Med advance online publication 16 February 2017.
White, David; Krueger, Paul; Meaney, Christopher; Antao, Viola; Kim, Florence; Kwong, Jeffrey C
To identify variables associated with willingness to undertake leadership roles among academic family medicine faculty. Web-based survey. Bivariate and multivariable analyses (logistic regression) were used to identify variables associated with willingness to undertake leadership roles. Department of Family and Community Medicine at the University of Toronto in Ontario. A total of 687 faculty members. Variables related to respondents' willingness to take on various academic leadership roles. Of all 1029 faculty members invited to participate in the survey, 687 (66.8%) members responded. Of the respondents, 596 (86.8%) indicated their level of willingness to take on various academic leadership roles. Multivariable analysis revealed that the predictors associated with willingness to take on leadership roles were as follows: pursuit of professional development opportunities (odds ratio [OR] 3.79, 95% CI 2.29 to 6.27); currently holding at least 1 leadership role (OR 5.37, 95% CI 3.38 to 8.53); a history of leadership training (OR 1.86, 95% CI 1.25 to 2.78); the perception that mentorship is important for one's current role (OR 2.25, 95% CI 1.40 to 3.60); and younger age (OR 0.97, 95% CI 0.95 to 0.99). Willingness to undertake new or additional leadership roles was associated with 2 variables related to leadership experiences, 2 variables related to perceptions of mentorship and professional development, and 1 demographic variable (younger age). Interventions that support opportunities in these areas might expand the pool and strengthen the academic leadership potential of faculty members.
Sunde, Lone; Bisgaard, Marie Luise; Soll-Johanning, Helle
a family history, and 39 relatives to cases) were analysed for MSI and CIN. In this small case-control study, no significant differences in the frequencies of MSI and CIN were observed between cases with a family history and their controls without a family history. MSI+;CIN- was observed in 6/29 cases......-ploidy were obtained in 16/26, 16/26, and 14/25 families, respectively.Although MSI+;CIN- appeared to predict familial CRC with a high specificity, neither MSI, CIN, or MSI+;CIN- are likely to be sufficiently sensitive predictors of familial CRC....
Full Text Available Progressive familial intrahepatic cholestasis (PFIC refers to a heterogeneous group of autosomal-recessive disorders. The estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC-1, PFIC-2, and PFIC-3 are due to mutations in ATP8B1, ABCB11, and ABCB4 genes involved in bile secretion, respectively. Serum gamma-glutamyl transpeptidase is normal in patients with PFIC-1 and PFIC-2, while it is raised in patients with PFIC3. The main clinical manifestation of PFIC is severe intrahepatic cholestasis. PFIC usually appears in infancy or childhood and rapidly progresses to end-stage liver disease before adulthood. Diagnosis of this disease is based on clinical manifestations, liver function tests, liver ultrasonography, liver histology, and genetic testing. Ursodeoxycholic acid therapy is the initial treatment in all PFIC patients to prevent liver damage. In some PFIC1 and PFIC2 patients, biliary diversion may also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation.
Bindal, Shruti; Gupta, Rani
Gamma-glutamyl transpeptidase enzyme, from Bacillus licheniformis ER15 (BLGGT), was produced extracellularly using a complex medium with high enzyme titers. Enzyme was concentrated and purified using ultra-filtration and ion exchange chromatography, respectively, with a purification fold of 4.6 and 50.11% yield. Enzyme was covalently immobilized onto chitosan microspheres (CMS). Immobilization was standardized with respect to pH, enzyme load and time. Immobilization efficiency of 11.9U/mg dry weight of microsphere was obtained in Tris-HCl buffer (pH 9.0) at 18°C in 4h. Immobilized enzyme (CMS-GGT) exhibited improved thermal stability (t1/2 of 70.7min at 60°C), activity in a broader pH range and improved salt stability in 18% (3M) sodium chloride solution as compared to free enzyme. Both free and immobilized enzymes specifically converted glutamine to glutamic acid in a mixture of amino acids. CMS-GGT had a better shelf life and high recyclability retaining 90% catalytic efficiency upto 10 reaction cycles. For long-term storage, CMS-GGT can be disinfected using either sodium azide or sodium hypochlorite solution without affecting enzyme activity. Thus, the present study provides an easy and efficient method for GGT enzyme immobilization that results in an improved and robust enzyme preparation. Copyright © 2016 Elsevier B.V. All rights reserved.
Frère, Jean-Marie; Ghuysen, Jean-Marie; Perkins, Harold R.; Nieto, Manuel
When Ac2-l-Lys-d-Ala-d-Ala and either meso-diaminopimelic acid or Gly-l-Ala are exposed to the exocellular dd-carboxypeptidase–transpeptidase of Streptomyces R61, transpeptidation reactions yielding Ac2-l-Lys-d-Ala-(d)-meso- diaminopimelic acid and Ac2-l-Lys-d-Ala-Gly-l-Ala occur concomitantly with the hydrolysis of the tripeptide into Ac2-l-Lys-d-Ala. The proportion of the enzyme activity which can be channelled in the transpeptidation and the hydrolysis pathways depends upon the pH and the polarity of the environment. Transpeptidation is favoured both by increasing the pH and by decreasing the water content of the reaction mixtures. Kinetics suggest that the reactions proceed through an ordered mechanism in which the acceptor molecule (meso-diaminopimelic acid or Gly-l-Ala) binds first to the enzyme. Both acceptors behave as non-competitive inhibitors of the hydrolysis pathway. Transpeptidation is inhibited by high concentrations of Gly-l-Ala but not by high concentrations of meso-diaminopimelic acid. The occurrence on the enzyme of an additional inhibitory binding site for Gly-l-Ala is suggested. PMID:4772274
Meekers, Dominique; Ratovonanahary, Raseliarison; Andrianantoandro, Tokinirina; Randrianarisoa, Hiangotiana
In several African countries fertility levels have stagnated or increased slightly. However, many women still report an unmet need for family planning. Therefore achieving further fertility declines requires programs that increase demand for family planning, but that also address the existing unmet need. One way to improve contraceptive access in a cost-effective manner might be to integrate family planning services into other existing health services. This paper analyzes secondary data from the 2012-2013 Millennium Development Goals (MDG) survey in Madagascar to estimate the number of women with an unmet need for family planning that might benefit from integrating family planning services into other health services. In Madagascar, one third of the demand for family planning is not met; an estimated 820,000 women have an unmet need for family planning. A substantial portion of these women can be reached by integrating family planning services into existing maternal and child health services. Health providers are uniquely positioned to help address method-related reasons for non-use of family planning, such as concerns about health problems and side-effects. Given the large unmet need for family planning, programs should not exclusively focus on increasing the demand for family planning, but also seek new ways to address the existing unmet need. Our study illustrates that simple analyses of existing health survey data can be an important tool for informing the design of programs to tackle this unmet need.
Chen Amy Chen
Full Text Available Diabetes is a disease of abnormal glucose homeostasis characterized by chronic hyperglycemia and a broad array of consequent organ damage. Because normal glucose homeostasis is maintained by a complex interaction between behavior (feeding and physical activity and metabolic activity that is modulated by inter-organ signaling through secreted factors, disease modeling in vitro is necessarily limited. In contrast, in vivo studies allow complex metabolic phenotypes to be studied but present a barrier to high throughput studies. Here we present the development of a novel in vivo screening platform that addresses this primary limitation of in vivo experimentation. Our platform leverages the large secretory capacity of the liver and the hepatocyte transfection technique of hydrodynamic tail vein injection to achieve supraphysiologic blood levels of secreted proteins. To date, the utility of hydrodynamic transfection has been limited by the deleterious impact of the variable transfection efficiency inherent to this technique. We overcome this constraint by co-transfection of a secreted luciferase cDNA whose product can be easily monitored in the blood of a living animal and used as a surrogate marker for transfection efficiency and gene expression levels. To demonstrate the utility of our strategy, we screened 248 secreted proteins for the ability to enhance glucose tolerance. Surprisingly, interleukin-6 and several of its family members but not other well-recognized insulin sensitizing agents were identified as potent hypoglycemic factors. We propose this experimental system as a powerful and flexible in vivo screening platform for identifying genes that modulate complex behavioral and metabolic phenotypes.
Khan, Kamron; Logan, Clare V.; McKibbin, Martin; Sheridan, Eamonn; Elçioglu, Nursel H.; Yenice, Ozlem; Parry, David A.; Fernandez-Fuentes, Narcis; Abdelhamed, Zakia I.A.; Al-Maskari, Ahmed; Poulter, James A.; Mohamed, Moin D.; Carr, Ian M.; Morgan, Joanne E.; Jafri, Hussain; Raashid, Yasmin; Taylor, Graham R.; Johnson, Colin A.; Inglehearn, Chris F.; Toomes, Carmel; Ali, Manir
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus. Most of these clinical features overlap with defects in the Norrin/β-catenin signalling pathway that is characterized by dysgenesis of the retinal and hyaloid vasculature. Our findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye. This work also provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression. PMID:22068589
Full Text Available Objectives: Hearing loss (HL is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL. In Iran, HL is one of the most common disabilities due to consanguineous marriages. The aim was to investigate the prevalence of three new ARHL genes (GJB4, GJC3, and SLITRK6 reported in neighboring countries among Iranian families with ARNSHL. Methods: One hundred unrelated families with at least two affected siblings in consanguineous marriage, who were negative for GJB2 gene mutations, were selected. By using three STR markers for each gene, homozygosity mapping was performed. Results: Two families showed linkage to GJB4, six families were linked to GJC3 and only one family linked to SLITRK6. The samples of these families who showed linkage were sent for Sanger sequencing to detect the causative mutations. However, after analyzing the sequencing results, no mutation could be detected in either of the families. Molecular analysis for these nine families is underway in order to determine the pathogenic mutations using whole exome sequencing. Discussion: These data demonstrate a very low prevalence of mutation in these three genes (GJB4, GJC3, and SLITRK6 in the Iranian population, since no mutation was detected in our study group of 100 families.
Shahid, Shaouli; Durey, Angela; Bessarab, Dawn; Aoun, Samar M; Thompson, Sandra C
Aboriginal Australians experience poorer outcomes from cancer compared to the non-Aboriginal population. Some progress has been made in understanding Aboriginal Australians' perspectives about cancer and their experiences with cancer services. However, little is known of cancer service providers' (CSPs) thoughts and perceptions regarding Aboriginal patients and their experiences providing optimal cancer care to Aboriginal people. Communication between Aboriginal patients and non-Aboriginal health service providers has been identified as an impediment to good Aboriginal health outcomes. This paper reports on CSPs' views about the factors impairing communication and offers practical strategies for promoting effective communication with Aboriginal patients in Western Australia (WA). A qualitative study involving in-depth interviews with 62 Aboriginal and non-Aboriginal CSPs from across WA was conducted between March 2006-September 2007 and April-October 2011. CSPs were asked to share their experiences with Aboriginal patients and families experiencing cancer. Thematic analysis was carried out. Our analysis was primarily underpinned by the socio-ecological model, but concepts of Whiteness and privilege, and cultural security also guided our analysis. CSPs' lack of knowledge about the needs of Aboriginal people with cancer and Aboriginal patients' limited understanding of the Western medical system were identified as the two major impediments to communication. For effective patient-provider communication, attention is needed to language, communication style, knowledge and use of medical terminology and cross-cultural differences in the concept of time. Aboriginal marginalization within mainstream society and Aboriginal people's distrust of the health system were also key issues impacting on communication. Potential solutions to effective Aboriginal patient-provider communication included recruiting more Aboriginal staff, providing appropriate cultural training for CSPs
Background Aboriginal Australians experience poorer outcomes from cancer compared to the non-Aboriginal population. Some progress has been made in understanding Aboriginal Australians’ perspectives about cancer and their experiences with cancer services. However, little is known of cancer service providers’ (CSPs) thoughts and perceptions regarding Aboriginal patients and their experiences providing optimal cancer care to Aboriginal people. Communication between Aboriginal patients and non-Aboriginal health service providers has been identified as an impediment to good Aboriginal health outcomes. This paper reports on CSPs’ views about the factors impairing communication and offers practical strategies for promoting effective communication with Aboriginal patients in Western Australia (WA). Methods A qualitative study involving in-depth interviews with 62 Aboriginal and non-Aboriginal CSPs from across WA was conducted between March 2006 - September 2007 and April-October 2011. CSPs were asked to share their experiences with Aboriginal patients and families experiencing cancer. Thematic analysis was carried out. Our analysis was primarily underpinned by the socio-ecological model, but concepts of Whiteness and privilege, and cultural security also guided our analysis. Results CSPs’ lack of knowledge about the needs of Aboriginal people with cancer and Aboriginal patients’ limited understanding of the Western medical system were identified as the two major impediments to communication. For effective patient–provider communication, attention is needed to language, communication style, knowledge and use of medical terminology and cross-cultural differences in the concept of time. Aboriginal marginalization within mainstream society and Aboriginal people’s distrust of the health system were also key issues impacting on communication. Potential solutions to effective Aboriginal patient-provider communication included recruiting more Aboriginal staff
Burke, Meghan M.; Goldman, Samantha E.
Compared to families of students with other types of disabilities, families of students with autism spectrum disorder (ASD) are significantly more likely to enact their procedural safeguards such as mediation and due process. However, we do not know which school, child, and parent characteristics are associated with the enactment of safeguards.…
Full Text Available BACKGROUND: Whole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary disorders in which the pathogenic gene harbors a large cohort of exons. We set out to demonstrate a suitable example of genetic diagnosis of MEN 2A/FMTC (multiple endocrine neoplasia type 2/familial medullary thyroid carcinoma using this approach. METHODOLOGY/PRINCIPAL FINDINGS: We sequenced the whole exome of six individuals from a large Chinese MEN2A/FMTC pedigree to identify the variants of the RET (REarranged during Transfection protooncogene and followed this by validation. Then prophylactic or surgical thyroidectomy with modified or level VI lymph node dissection and adrenalectomy were performed for the carriers. The cases were closely followed up. Massively parallel sequencing revealed four missense mutations of RET. We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C634Y/V292M/R67H/R982C compound mutation, due to the involvement of p.C634Y in the proband with MEN 2A and p.V292M/R67H/R982C in the proband's husband with FMTC. In the maternal origin, p.C634Y caused bilateral MTC in all 5 cases and bilateral pheochromocytoma in 2 of the 5; the earliest onset age was 28 years. In the paternal origin, one of the six p.V292M/R67H/R982C carriers presented bilateral MTC (70 years old, one only had bilateral C-cell hyperplasia (44 years, two had bilateral multi-nodules (46 and 48 years and two showed no abnormality (22 and 19 years. CONCLUSIONS/SIGNIFICANCE: The results confirmed the successful clinical utility of whole exome sequencing, and our data suggested that the p.C634Y/V292M/R67H/R982C mutation of RET exhibited a more aggressive clinical phenotype than p.C634Y or p.V292M/R67H/R982C, while p.V292M/R67H/R982C presented a relatively milder pathogenicity of MTC and likely predisposed to FMTC.
Ceci, L.N.; Curzio, O.A.; Pomilio, A.B.
The effects of 50 Gy gamma-irradiation 30 days after harvest on gamma-glutamyl transpeptidase (GTP) activity (the first enzyme in the catabolism of gamma-glutamyl peptides) of garlic bulbs of 'Red' during storage for 300 days were evaluated. GTP activity was determined by spectrophotometry using gamma-glutamyl-p-nitroanilide as exogenous substrate, and was correlated with parameters related to the metabolic-respiratory activity, such as sprouting index in control bulbs, and cumulative weight losses (CWL) and non-enzymic or control pyruvate (CP: metabolite of the respiratory chain) in irradiated and control bulbs. GTP activity was also correlated with flavour parameters, such as enzymic pyruvate (EP; metabolite of the reaction of alliinase and sulphur amino acids in crushed garlic) and primary sulphur compounds. From these results, three storage stages are suggested: (i) the internal dormancy period, (ii) the first post-dormant stage, and (iii) the second post-dormant stage. During the first 90 days of storage (first stage) all the parameters remained nearly constant in the controls, while GTP activity and CP content increased in irradiated garlic because of radioinduced metabolic-respiratory activation. From 90 to 180 days of storage (second stage) the correlation between the increases of GTP and EP in irradiated garlic and controls was due to the action of GTP on gamma-glutamyl peptides that finally released substrates of alliinase. Both enzymes increased EP contact, which was higher in irradiated garlic (major flavour enhancement) than in controls. After 180 days of storage (third stage) EP and primary sulphur compounds decreased in irradiated garlic and in the controls. while GTP, CWL and CP kept increasing in both samples with lower rates of increase in irradiated garlic. These increases were related to metabolic activation. reserve exhaustion and finally rotting. Therefore, irradiated garlic was of better quality at the end of storage
Bindal, Shruti; Gupta, Rani
Microbial γ-glutamyl transpeptidases (GGTs) have been exploited in biotechnological, pharmaceutical, and food sectors for the synthesis of various γ-glutamyl compounds. But, till date, no bacterial GGTs are commercially available in the market because of lower levels of production from various sources. In the current study, production of GGT from Bacillus licheniformis ER15 was investigated to achieve high GGT titers. Hyperproduction of GGT from B. licheniformis ER15 was achieved with 6.4-fold enhancement (7921.2 ± 198.7 U/L) by optimization of culture medium following one-variable-at-a-time strategy and statistical approaches. Medium consisting of Na 2 HPO 4 : 0.32% (w/v); KH 2 PO 4 : 0.15% (w/v); starch: 0.1% (w/v); soybean meal: 0.5% (w/v); NaCl: 4.0% (w/v), and MgCl 2 : 5 mM was found to be optimal for maximum GGT titers. Maximum GGT titers were obtained, in the optimized medium at 37°C and 200 rpm, after 40 h. It was noteworthy that GGT production was a linear function of sodium chloride concentration, as observed during response surface methodology. While investigating the role of NaCl on GGT production, it was found that NaCl drastically decreased subtilisin concentration and indirectly increasing GGT recovery. B. licheniformis ER15 is proved to be a potential candidate for large-scale production of GGT enzyme and its commercialization.
Full Text Available Obesity is growing epidemic affecting 35% of adults in the United States. Previous genome-wide association studies (GWAS have identified numerous loci associated with obesity. However, the majority of studies have been completed in Caucasians focusing on total body measures of adiposity. Here we report the results from genome-wide and exome chip association studies focusing on total body measures of adiposity including body mass index (BMI, percent body fat (PBF and measures of fat deposition including waist circumference (WAIST, waist-hip ratio (WHR, subcutaneous adipose tissue (SAT, and visceral adipose tissue (VAT in Hispanic Americans (nmax = 1263 from the Insulin Resistance Atherosclerosis Family Study (IRASFS. Five SNPs from two novel loci attained genome-wide significance (P<5.00x10-8 in IRASFS. A missense SNP in the isocitrate dehydrogenase 1 gene (IDH1 was associated with WAIST (rs34218846, MAF = 6.8%, PDOM = 1.62x10-8. This protein is postulated to play an important role in fat and cholesterol biosynthesis as demonstrated in cell and knock-out animal models. Four correlated intronic SNPs in the Zinc finger, GRF-type containing 1 gene (ZGRF1; SNP rs1471880, MAF = 48.1%, PDOM = 1.00x10-8 were strongly associated with WHR. The exact biological function of ZGRF1 and the connection with adiposity remains unclear. SNPs with p-values less than 5.00x10-6 from IRASFS were selected for replication. Meta-analysis was computed across seven independent Hispanic-American cohorts (nmax = 4156 and the strongest signal was rs1471880 (PDOM = 8.38x10-6 in ZGRF1 with WAIST. In conclusion, a genome-wide and exome chip association study was conducted that identified two novel loci (IDH1 and ZGRF1 associated with adiposity. While replication efforts were inconclusive, when taken together with the known biology, IDH1 and ZGRF1 warrant further evaluation.
Anil Singh Basnyat
Full Text Available Breast cancer (BC is the most common type of cancer worldwide, being a major cause of morbidity in female. In Nepal it is the second most common type of cancer among females of perimenopausal age group. More than one quarter of the BC diagnosed in young Nepalese female, with familial history of breast cancer, early pregnancy, longer lactation and estrogen exposure and often with tumors showing aggressive biological behaviors. Anthracyclines (Doxorubicin based treatment regime were reported to cause cardiotoxicity by increasing intramyocardial free radical production, lipid alterations and decreasing antioxidant level. Oxidative stress involving cellular reactive oxygen species (ROS production is widely accepted mechanism but the molecular basis of chemotherapy induced organ toxicity remains highly controversial. An increased rate of metabolism and oxidative stress results rapid turnover of cancer cells that modulates the enzyme level in blood circulation. Serum LDH and GGT level correlates with tumor burden, metastatic character of BC and intensity of organtoxicity. The aim of our study is to evaluate the serum level of LDH and GGT in BC patients receiving chemotherapy and correlate these enzyme levels with different stages of BC. A total number of 150 subjects were included in the study, comprising 90 histopathologically confirmed 24 to 76 years aged patients of different breast cancer stages, receiving at least 3 cycles of 5-Fluorouracil, Adriamycin and Cyclophosphamide (FAC chemotherapy. Sixty age- matched healthy women were enrolled as controls. Blood samples from each individual was collected after informed consent and analysed for serum LDH and GGT levels using standard biochemical methods. Data were analyzed using student's paired 't' test, Pearson correlation test and ANOVA. Serum LDH and GGT levels were significantly (p<0.001 increased in BC patients as compared to control group. When all 4 stages of BC were compared to control group
Kumari, Shobha; Pal, Ravi Kant; Gupta, Rani; Goel, Manisha
Gamma glutamyl transpeptidase, (GGT) is a ubiquitous protein which plays a central role in glutathione metabolism and has myriad clinical implications. It has been shown to be a virulence factor for pathogenic bacteria, inhibition of which results in reduced colonization potential. However, existing inhibitors are effective but toxic and therefore search is on for novel inhibitors, which makes it imperative to understand the interactions of various inhibitors with the protein in substantial detail. High resolution structures of protein bound to different inhibitors can serve this purpose. Gamma glutamyl transpeptidase from Bacillus licheniformis is one of the model systems that have been used to understand the structure-function correlation of the protein. The structures of the native protein (PDB code 4OTT), of its complex with glutamate (PDB code 4OTU) and that of its precursor mimic (PDB code 4Y23) are available, although at moderate/low resolution. In the present study, we are reporting the preliminary analysis of, high resolution X-ray diffraction data collected for the co-crystals of B. licheniformis, Gamma glutamyl transpeptidase, with its inhibitor, Acivicin. Crystals belong to the orthorhombic space group P2 1 2 1 2 1 and diffract X-ray to 1.45 Å resolution. This is the highest resolution data reported for all GGT structures available till now. The use of SUMO fused expression system enhanced yield of the target protein in the soluble fraction, facilitating recovery of protein with high purity. The preliminary analysis of this data set shows clear density for the inhibitor, acivicin, in the protein active site.
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...
Litholdo, Celso G; Parker, Benjamin; Eamens, Andrew L
, the identification of proteins targeted by LCR F-box itself has proven problematic. Here, a proteomic analysis of shoot apices from plants with altered LCR levels identified a member of the Latex Protein (MLP) family gene as a potential LCR F-box target. Bioinformatic and molecular analyses also suggested that other...... MLP family members are likely to be targets for this post-translational regulation. Direct interaction between LCR F-Box and MLP423 was validated. Additional MLP members had reduction in protein accumulation, in varying degrees, mediated by LCR F-Box. Transgenic Arabidopsis lines, in which MLP28...... Taken together, the results demonstrate that MLPs are driven to degradation by LCR, and indicate that MLP gene family is target of miR394-LCR regulatory node, representing potential targets for directly post-translational regulation mediated by LCR F-Box. In addition, MLP28 family member is associated...
Seidl, M.F.; Ackerveken, van den G.; Govers, F.; Snel, B.
The taxonomic class of oomycetes contains numerous pathogens of plants and animals but is related to nonpathogenic diatoms and brown algae. Oomycetes have flexible genomes comprising large gene families that play roles in pathogenicity. The evolutionary processes that shaped the gene content have
Allen, Michael; Ferrier, Suzanne; Sargeant, Joan; Loney, Elaine; Bethune, Graeme; Murphy, Gerard
Caring for patients with dementia is complex and demanding. Since family physicians (FPs) provide much of this care, we examined their practices, learning needs, and barriers to care concerning Alzheimer's disease and other dementias. We surveyed 392 (approximately 50%) Nova Scotia FPs and conducted focus groups and interviews with: FPs; staff of…
Banks, Duren; Landsverk, John; Wang, Kathleen
The "Greenbook" provides a roadmap for child welfare agencies to collaborate and provide effective responses to families who are experiencing co-occurring child maltreatment and domestic violence. A multisite developmental evaluation was conducted of six demonstration sites that received federal funding to implement "Greenbook" recommendations for…
E.J. Meijers-Heijboer (Hanne); G. Moslein; H. Lynch; M. Wasielewski (Marijke); R. Fodde (Riccardo); A. Wagner (Anja); F. Elstrodt (Fons); P. Verkuijlen; C. Tops (Carli); J. Burn (John); R.R. van den Bos (Renate); A. de Snoo (Anja); A.E.M. Schutte (Mieke); P.F. Franken (Patrick); G.T. Fat; S. Jagmohan; P. Chapman; C.T. Brekelmans (Cecile); J.T. Wijnen (Juul); H. Vasen (Hans); A.M.W. van den Ouweland (Ans); J.G.M. Klijn (Jan); A. Hollestelle (Antoinette)
textabstractBecause of genetic heterogeneity, the identification of breast cancer-susceptibility genes has proven to be exceedingly difficult. Here, we define a new subset of families with breast cancer characterized by the presence of colorectal cancer cases. The 1100delC
Basit, Sulman; Albalawi, Alia M; Alharby, Essa; Khoshhal, Khalid I
Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family. We performed whole genome genotyping using Illumina HumanOmni 2.5 M array and whole exome sequencing (WES) using Nextera Rapid capture kit and Illumina NextSeq500 instrument in four individuals of a family with DDH. SNP data analysis did not identify any runs of homozygosity and copy number variations. Identity-by-descent (IBD) analysis on whole genome genotyping data identified a shared haplotypes on chromosome 1 in affected individuals. An analysis of the WES data identified rare heterozygous variants in HSPG2 and ATP2B4 genes in the affected individuals. Multiple prediction software predicted that the variants identified are damaging. Moreover, in silico analysis showed that HSPG2 regulates ATP2B4 expression using a variety of transcription factors. Our results indicate that there might be a functional epistatic interaction between HSPG2 and ATP2B4, and DDH in the family studied is due to a combined effect of both variants. These variants are also present in the asymptomatic mother suggesting that the variants in HSPG2 and ATP2B4 are incompletely penetrant. This study provides the first evidence of digenic inheritance of DDH in a family and extends the spectrum of genetic heterogeneity in this human disorder.
Shah, Mohd Hussain; Bhat, Vishwanath; Shetty, Jyoti S; Kumar, Arun
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet (brachydactyly). WMS is caused by mutations in the FBN1, ADAMTS10, and LTBP2 genes. Mutations in the LTBP2 and ADAMTS17 genes cause a WMS-like syndrome, in which the affected individuals show major features of WMS but do not display brachydactyly and joint stiffness. The main purpose of our study was to determine the genetic cause of WMS in an Indian family. Whole exome sequencing (WES) was used to identify the genetic cause of WMS in the family. The cosegregation of the mutation was determined with Sanger sequencing. Reverse transcription (RT)-PCR analysis was used to assess the effect of a splice-site mutation on splicing of the ADAMTS17 transcript. The WES analysis identified a homozygous novel splice-site mutation c.873+1G>T in a known WMS-like syndrome gene, ADAMTS17, in the family. RT-PCR analysis in the patient showed that exon 5 was skipped, which resulted in the deletion of 28 amino acids in the ADAMTS17 protein. The mutation in the WMS-like syndrome gene ADAMTS17 also causes WMS in an Indian family. The present study will be helpful in genetic diagnosis of this family and increases the number of mutations of this gene to six.
Lakhanpaul, Monica; Culley, Lorraine; Robertson, Noelle; Bird, Deborah; Hudson, Nicky; Johal, Narynder; McFeeters, Melanie; Angell, Emma; Hamlyn-Williams, Charlotte; Abbas, Nadine; Manikam, Logan; Johnson, Mark
Over one million children receive treatment for asthma in the UK. South Asian children experience excess morbidity and higher rates of hospitalization than the White population. This study aimed to explore perceptions and experiences of asthma and asthma management in British South Asian and White British families, to identify barriers to optimal management and to inform culturally appropriate interventions to improve management. A qualitative methodology, using semi-structured interviews was adopted. Members of 30 families from six major South Asian ethnic-religious groups were purposively sampled (n = 49). For comparison, 17 White British parents were interviewed. Topics included understandings of asthma; day-to-day management; interactions with health care providers and the perceived quality of healthcare services. Data were analyzed using interpretive thematic analysis, facilitated by NVivo. Similarities and differences between South Asian and White families were analysed across key themes. Many of the problems facing families of a child with asthma were common to South Asian and White British families. Both had limited understanding of asthma causes and triggers and expressed confusion about the use of medications. Both groups reported delays in receiving a clear diagnosis and many experienced what was perceived as uncoordinated care and inconsistent advice from health professionals. No family had received an asthma plan. South Asian families had more difficulty in recognising severity of symptoms and those with limited English faced additional barriers to receiving adequate information and advice about management due to poor communication support systems. South Asian parents reported higher levels of involvement of wider family and higher levels of stigma. Attendance at the emergency department was related to previous experience, difficulties in accessing primary care, lack of knowledge of alternatives and difficulties in assessing severity. Barriers to
Relationship between alcohol drinking and aspartate aminotransferase:alanine aminotransferase (AST:ALT) ratio, mean corpuscular volume (MCV), gamma-glutamyl transpeptidase (GGT), and apolipoprotein A1 and B in the U.S. population.
Liangpunsakul, Suthat; Qi, Rong; Crabb, David W; Witzmann, Frank
The misuse of alcohol, even at levels just above two drinks per day, is a public health problem, but identifying patients with this potentially unhealthy drinking is hindered by the lack of tests. Several blood tests, such as those testing for gamma-glutamyl transpeptidase (GGT) or mean corpuscular volume (MCV), are among the commonly used markers to identify very heavy drinking, but combinations of these markers have rarely been tested in lighter drinkers. We examined the relationship between alcohol drinking and the levels of these markers in a national population-based study composed primarily of lighter drinkers. Data were analyzed from 8,708 adult participants in the third U.S. National Health and Nutrition Examination Survey after excluding subjects with iron overload; with hepatitis B and C; who were pregnant; and who were taking prescription drugs such as phenytoin (Dilantin), barbiturates, and hydroxyurea (Droxia and Hydrea). The relationship between the amount of alcohol drinking and GGT, aspartate aminotransferase:alanine aminotransferase ratio, MCV of erythrocytes, and apolipoprotein A1 and B were analyzed and adjusted for potential liver injury risk factors. The prevalence of unhealthy alcohol drinking (defined as consumption of more than two standard drinks per day) was 6.7%. Heavier drinkers tended to be younger and reported an average of 4.2 drinks per day. When tested alone or in combination, the sensitivity and positive predictive values for these blood tests were too low to be clinically useful in identifying the subjects in the heavier drinking category. In this large, national, population-based study, the markers of heavy drinking studied here, either alone or in combination, did not appear to be useful in identifying unhealthy drinking. More work is needed to find the novel marker(s) associated with risky alcohol drinking.
Relationship Between Alcohol Drinking and Aspartate Aminotransferase:Alanine Aminotransferase (AST:ALT) Ratio, Mean Corpuscular Volume (MCV), Gamma-Glutamyl Transpeptidase (GGT), and Apolipoprotein A1 and B in the U.S. Population*
Liangpunsakul, Suthat; Qi, Rong; Crabb, David W.; Witzmann, Frank
Objective: The misuse of alcohol, even at levels just above two drinks per day, is a public health problem, but identifying patients with this potentially unhealthy drinking is hindered by the lack of tests. Several blood tests, such as those testing for gamma-glutamyl transpeptidase (GGT) or mean corpuscular volume (MCV), are among the commonly used markers to identify very heavy drinking, but combinations of these markers have rarely been tested in lighter drinkers. We examined the relationship between alcohol drinking and the levels of these markers in a national population-based study composed primarily of lighter drinkers. Method: Data were analyzed from 8,708 adult participants in the third U.S. National Health and Nutrition Examination Survey after excluding subjects with iron overload; with hepatitis B and C; who were pregnant; and who were taking prescription drugs such as phenytoin (Dilantin), barbiturates, and hydroxyurea (Droxia and Hydrea). The relationship between the amount of alcohol drinking and GGT, aspartate aminotransferase:alanine aminotransferase ratio, MCV of erythrocytes, and apolipoprotein A1 and B were analyzed and adjusted for potential liver injury risk factors. Results: The prevalence of unhealthy alcohol drinking (defined as consumption of more than two standard drinks per day) was 6.7%. Heavier drinkers tended to be younger and reported an average of 4.2 drinks per day. When tested alone or in combination, the sensitivity and positive predictive values for these blood tests were too low to be clinically useful in identifying the subjects in the heavier drinking category. Conclusions: In this large, national, population-based study, the markers of heavy drinking studied here, either alone or in combination, did not appear to be useful in identifying unhealthy drinking. More work is needed to find the novel marker(s) associated with risky alcohol drinking. PMID:20230722
Full Text Available Abstract Background Severe hypertriglyceridemia (HTG has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel. Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.
Bailes, Sally; Fichten, Catherine S; Rizzo, Dorrie; Baltzan, Marc; Grad, Roland; Pavilanis, Alan; Creti, Laura; Amsel, Rhonda; Libman, Eva
The purpose of this study was to examine the sleep characteristics, metabolic syndrome disease and likelihood of obstructive sleep apnea in a sample of older, family medicine patients previously unsuspected for sleep apnea. A total of 295 participants, minimum age 45, 58.7% women, were recruited from two family medicine clinics. None previously had been referred for sleep apnea testing. All participants completed a sleep symptom questionnaire and were offered an overnight polysomnography study, regardless of questionnaire results. 171 followed through with the sleep laboratory component of the study. Health data regarding metabolic syndrome disease (hypertension, hyperlipidemia, diabetes and obesity) were gathered by chart review. Overall, more women than men enrolled in the study and pursued laboratory testing. Of those who underwent polysomnography testing, 75% of the women and 85% of the men were diagnosed with sleep apnea based on an apnea/hypopnea index of 10 or greater. Women and men had similar polysomnography indices, the majority being in the moderate to severe ranges. In those with OSA diagnosis, gender differences in sleep symptom severity were not significant. We conclude that greater gender equality in sleep apnea rates can be achieved in family practice if sleep apnea assessments are widely offered to older patients. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: firstname.lastname@example.org.
Holtrop, Kendal; Chaviano, Casey L; Scott, Jenna C; McNeil Smith, Shardé
Homeless families in transitional housing face a number of distinct challenges, yet there is little research seeking to guide prevention and intervention work with homeless parents. Informed by the tenets of community-based participatory research, the purpose of this study was to identify relevant components to include in a parenting intervention for this population. Data were gathered from 40 homeless parents through semistructured individual interviews and were analyzed using qualitative content analysis. The resulting 15 categories suggest several topics, approach considerations, and activities that can inform parenting intervention work with homeless families in transitional housing. Study findings are discussed within the context of intervention fidelity versus adaptation, and implications for practice, research, and policy are suggested. This study provides important insights for informing parenting intervention adaptation and implementation efforts with homeless families in transitional housing. (PsycINFO Database Record (c) 2015 APA, all rights reserved).
Shen, Joseph J; Carmichael, Jason; Vásquez Santos, Leoncio
An important aspect of genetic counseling is the recognition of and adaptation to the socio-cultural uniqueness of the different populations that a genetics clinic serves. The Central Valley of California is home to a large population from Mexico, with a significant proportion of indigenous ancestry originating from the state of Oaxaca. We report on our experience with two families of this community-one extended family with an early lethal inborn error of metabolism and the other with a chronic disfiguring form of ichthyosis. We identified multiple important factors that needed to be considered, including the matching of language dialects, adaptation to different social interaction conventions, acknowledgement of traditional medicine beliefs, and effective transmission of genetic terms and concepts, all of which should be incorporated into the interactions with these families when aiming to provide comprehensive genetic counseling.
Llovet, Patricia; Illana, Francisco J; Martín-Morales, Lorena; de la Hoya, Miguel; Garre, Pilar; Ibañez-Royo, M Dolores; Pérez-Segura, Pedro; Caldés, Trinidad; García-Barberán, Vanesa
Li-Fraumeni syndrome (LFS) is an autosomal dominant, inherited tumor predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. The molecular diagnosis of LFS is important to develop strategies for early detection and access to the genetic counseling. Our study evaluated germline TP53 mutations in Spanish families with a history suggestive of LFS. Germline TP53 alterations in 22 families with a history suggestive of LFS were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification. Loss of heterozygosity analysis and immunohistochemistry of the protein in the tumor were performed in order to evaluate the pathogenicity of a novel alteration detected. A total of seven TP53 mutations were detected, six point mutations (4 missense and 2 nonsense) and a novel inframe deletion. 93% of mutation carriers developed at least one malignancy (mainly breast cancer and sarcomas), with a mean age at diagnosis of the first tumor of 30.2 years. Two missense mutations acted as dominant-negative. The novel inframe mutation c.437_445del was located in the DNA-binding domain. This mutation segregated with cancer in the family, and both high expression of the protein and loss of the wild-type TP53 allele were detected in the tumor of the carrier. We have found a novel inframe deletion in TP53 that likely results in the loss of p53 function and acts in a non-dominant negative way, although further studies are necessary to clarify this issue. The identification of novel TP53 alterations is crucial for a personalized cancer-risk management of the Li-Fraumeni syndrome.
Hua, Youjia; Duan, Shiwei; Murmann, Andrea E
have generated custom data sets containing expression information of 54 miRNA families sharing the same seed match. We have developed a novel strategy for correlating miRNAs with individual genes based on a summed Pearson Correlation Coefficient (sPCC) that mimics an in silico titration experiment......micro(mi)RNAs are small non-coding RNAs that negatively regulate expression of most mRNAs. They are powerful regulators of various differentiation stages, and the expression of genes that either negatively or positively correlate with expressed miRNAs is expected to hold information...
Cheng, Hongbo; Zhang, Qin; Wang, Wenbin; Meng, Qingxia; Wang, Fuxin; Liu, Minjuan; Mao, Jun; Shi, Yichao; Wang, Wei; Li, Hong
To identify the pathogenic mutation and provide prenatal counseling and diagnosis in two large Chinese families with autosomal dominant all-frequency hearing loss. Whole exome sequencing technology was used to identify the pathogenic mutation of the two families. In addition, 298 patients with sporadic hearing loss and 400 normal controls were studied to verify the mutation/polymorphism nature of the identified variant. Prenatal diagnosis was carried out. A rare missense mutation c.2389G > A (p.D572N) in the Wolframin syndrome 1 (WFS1) gene was identified. It was reported in only one previous Chinese study, and never in other populations/ethnicities. The mutation was also found in one patient with sporadic hearing loss (1/298, 0.3%). A healthy baby was born after prenatal diagnosis. Our findings strongly suggest that the c.2389G > A mutation in WFS1 is associated with all-frequency hearing loss, rather than low- or high-frequency loss. So far, the mutation is only reported in Chinese. Prenatal diagnosis and prenatal counseling is available for these two Chinese families. Copyright © 2018. Published by Elsevier B.V.
Crerand, Canice E; Kapa, Hillary M; Litteral, Jennifer; Pearson, Gregory D; Eastman, Katherine; Kirschner, Richard E
To evaluate the psychometric properties of the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV), a screening instrument for psychosocial risk in families of children with craniofacial conditions, and to examine risk classification of patients in a craniofacial population. Prospective, cross-sectional, single-center study. Interdisciplinary cleft lip and palate/craniofacial center at a US children's hospital. Parents/caregivers (n = 242) of 217 children ages 1 month to 17 years being treated for a congenital syndromic or nonsyndromic craniofacial condition completed the PAT-CV and validating measures from July 2015 to July 2016. The PAT-CV was completed by 121 caregivers a second time to assess test-retest reliability. PAT-CV, Child Behavior Checklist, Adult Self-Report, Pediatric Quality of Life Inventory, Craniofacial Experiences Questionnaire, and Family Environment Scale. Construct validity of the PAT-CV was supported by significant correlations ( P risk group, 32.3% within the targeted risk group, and 7.8% within the clinical range. Good criterion validity was indicated by significantly higher scores ( P risk groups. Internal consistency (Cronbach's α = 0.86) and test-retest reliability for the PAT-CV total score ( r = 0.77, P psychosocial risk. Accurate identification of risk and implementation of appropriate interventions may contribute to improvements in medical and psychosocial outcomes.
Hassig, Christian A; Zeng, Fu-Yue; Kung, Paul; Kiankarimi, Mehrak; Kim, Sylvia; Diaz, Paul W; Zhai, Dayong; Welsh, Kate; Morshedian, Shana; Su, Ying; O'Keefe, Barry; Newman, David J; Rusman, Yudi; Kaur, Harneet; Salomon, Christine E; Brown, Susan G; Baire, Beeraiah; Michel, Andrew R; Hoye, Thomas R; Francis, Subhashree; Georg, Gunda I; Walters, Michael A; Divlianska, Daniela B; Roth, Gregory P; Wright, Amy E; Reed, John C
Antiapoptotic Bcl-2 family proteins are validated cancer targets composed of six related proteins. From a drug discovery perspective, these are challenging targets that exert their cellular functions through protein-protein interactions (PPIs). Although several isoform-selective inhibitors have been developed using structure-based design or high-throughput screening (HTS) of synthetic chemical libraries, no large-scale screen of natural product collections has been reported. A competitive displacement fluorescence polarization (FP) screen of nearly 150,000 natural product extracts was conducted against all six antiapoptotic Bcl-2 family proteins using fluorochrome-conjugated peptide ligands that mimic functionally relevant PPIs. The screens were conducted in 1536-well format and displayed satisfactory overall HTS statistics, with Z'-factor values ranging from 0.72 to 0.83 and a hit confirmation rate between 16% and 64%. Confirmed active extracts were orthogonally tested in a luminescent assay for caspase-3/7 activation in tumor cells. Active extracts were resupplied, and effort toward the isolation of pure active components was initiated through iterative bioassay-guided fractionation. Several previously described altertoxins were isolated from a microbial source, and the pure compounds demonstrate activity in both Bcl-2 FP and caspase cellular assays. The studies demonstrate the feasibility of ultra-high-throughput screening using natural product sources and highlight some of the challenges associated with this approach. © 2014 Society for Laboratory Automation and Screening.
Veerappa, Avinash M; Saldanha, Marita; Padakannaya, Prakash; Ramachandra, Nallur B
Developmental dyslexia (DD) is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. We performed genome-wide screening for copy number variations (CNVs) in 10 large Indian dyslexic families using Affymetrix Genome-Wide Human SNP Array 6.0. Results revealed the complex genomic rearrangements due to one non-contiguous deletion and five contiguous micro duplications and micro deletions at 17q21.31 region in three dyslexic families. CNVs in this region harbor the genes KIAA1267, LRRC37A, ARL17A/B, NSFP1, and NSF. The CNVs in case 1 and case 2 at this locus were found to be in homozygous state and case 3 was a de novo CNV. These CNVs were found with at least one CNV having a common break and end points in the parents. This cluster of genes containing NSF is implicated in learning, cognition, and memory, though not formally associated with dyslexia. Molecular network analysis of these and other dyslexia related module genes suggests NSF and other genes to be associated with cellular/vesicular membrane fusion and synaptic transmission. Thus, we suggest that NSF in this cluster would be the nearest gene responsible for the learning disability phenotype. © 2014 Wiley Periodicals, Inc.
Kang, Peter Choon Eng; Phuah, Sze Yee; Sivanandan, Kavitta; Kang, In Nee; Thirthagiri, Eswary; Liu, Jian Jun; Hassan, Norhashimah; Yoon, Sook-Yee; Thong, Meow Keong; Hui, Miao; Hartman, Mikael; Yip, Cheng Har; Mohd Taib, Nur Aishah; Teo, Soo Hwang
Although the breast cancer predisposition genes BRCA1 and BRCA2 were discovered more than 20 years ago, there remains a gap in the availability of genetic counselling and genetic testing in Asian countries because of cost, access and inaccurate reporting of family history of cancer. In order to improve access to testing, we developed a rapid test for recurrent mutations in our Asian populations. In this study, we designed a genotyping assay with 55 BRCA1 and 44 BRCA2 mutations previously identified in Asian studies, and validated this assay in 267 individuals who had previously been tested by full sequencing. We tested the prevalence of these mutations in additional breast cancer cases. Using this genotyping approach, we analysed recurrent mutations in 533 Malaysian breast cancer cases with Malays, 3 BRCA1 and 2 BRCA2 mutations in Chinese and 1 BRCA1 mutation in Indians account for 60, 24 and 20 % of carrier families, respectively. By contrast, haplotype analyses suggest that a recurrent BRCA2 mutation (c.262_263delCT) found in 5 unrelated Malay families has at least 3 distinct haplotypes. Taken together, our data suggests that panel testing may help to identify carriers, particularly Asian BRCA2 carriers, who do not present with a priori strong family history characteristics.
Skjøt, Rikke L. V.; Oettinger, Thomas; Rosenkrands, Ida
Culture filtrate from Mycobacterium tuberculosis contains protective antigens of relevance for the generation of a new antituberculosis vaccine. We have identified two previously uncharacterized M. tuberculosis proteins (TB7.3 and TB10.4) from the highly active low-mass fraction of culture filtrate....... The molecules were characterized, mapped in a two-dimensional electrophoresis reference map of short-term culture filtrate, and compared with another recently identified low-mass protein, CFP10 (F. X. Berthet, P, B. Rasmussen, I. Rosenkrands, P. Andersen, and B. Gicquel. Microbiology 144:3195-3203, 1998......), and the well-described ESAT-6 antigen. Genetic analyses demonstrated that TB10.4 as well as CFP10 belongs to the ESAT-6 family of low-mass proteins, whereas TB7.3 is a low-molecular-mass protein outside this family. The proteins were expressed in Escherichia coli, and their immunogenicity was tested...
Skjøt, R L; Oettinger, T; Rosenkrands, I
Culture filtrate from Mycobacterium tuberculosis contains protective antigens of relevance for the generation of a new antituberculosis vaccine. We have identified two previously uncharacterized M. tuberculosis proteins (TB7.3 and TB10.4) from the highly active low-mass fraction of culture filtrate....... The molecules were characterized, mapped in a two-dimensional electrophoresis reference map of short-term culture filtrate, and compared with another recently identified low-mass protein, CFP10 (F. X. Berthet, P. B. Rasmussen, I. Rosenkrands, P. Andersen, and B. Gicquel. Microbiology 144:3195-3203, 1998......), and the well-described ESAT-6 antigen. Genetic analyses demonstrated that TB10.4 as well as CFP10 belongs to the ESAT-6 family of low-mass proteins, whereas TB7.3 is a low-molecular-mass protein outside this family. The proteins were expressed in Escherichia coli, and their immunogenicity was tested...
Veerappa, Avinash M; Saldanha, Marita; Padakannaya, Prakash; Ramachandra, Nallur B
Genome-wide screening for copy number variations (CNVs) in ten Indian dyslexic families revealed the presence of five de novo CNVs in regions harboring GABARAP, NEGR1, ACCN1, DCDC5, and one in already known candidate gene CNTNAP2. These genes are located on regions of chromosomes 17p13.1, 1p31.1, 17q11.21, 11p14.1 and 7q35, respectively, and are implicated in learning, cognition and memory processes through dendritic spinal plasticity, though not formally associated with dyslexia. Molecular network analysis of these and other dyslexia-related module genes suggests them to be associated with synaptic transmission, axon guidance and cell adhesion. Thus, we suggest that dyslexia may also be caused by neuronal disconnection in addition to the earlier view that it is due to neuronal migrational disorder.
Banks, Duren; Landsverk, John; Wang, Kathleen
The Greenbook provides a roadmap for child welfare agencies to collaborate and provide effective responses to families who are experiencing co-occurring child maltreatment and domestic violence. A multisite developmental evaluation was conducted of six demonstration sites that received federal funding to implement Greenbook recommendations for child welfare agencies. Surveys of child welfare caseworkers show significant changes in several areas of agency policy and practice, including regular domestic violence training, written guidelines for reporting domestic violence, and working closely and sharing resources with local domestic violence service providers. Case file reviews show significant increases in the level of active screening for domestic violence, although this increase peaks at the midpoint of the initiative. These findings, coupled with on-site interview data, point to the importance of coordinating system change activities in child welfare agencies with a number of other collaborative activities.
Povlsen, L.; Karlberg, I.; Ringsberg, K.C.
Objective The aim of the study was to analyse how parents of Turkish and Turkish/Kurdish children with diabetes and health care professionals perceived the education and support provided, and to assess what was required to improve the collaboration between the families and the team in order to op...... as promoting attendance at the clinics. Conclusion Non-western immigrants have a considerable need for special support to help them learn to manage a chronic disease. Health education should aim at bridging the gap between differences related to culture and traditions...... that the content of the education is understood, implemented and maintained; 2) special support to enable parents to deal with practical and emotional problems and conflicts related to diabetes management; 3) closer contact and psychosocial support in order to promote learning and motivation for selfcare as well...
Khoury, Michael; Manlhiot, Cedric; Gibson, Don; Chahal, Nita; Stearne, Karen; Dobbin, Stafford; McCrindle, Brian W
Universal screening of children for dyslipidemia and other cardiovascular risk factors has been recommended. Given the clustering of cardiovascular risk factors within families, one benefit of screening adolescents may be to identify "at-risk" families in which adult members might also be at elevated risk and potentially benefit from medical evaluation. Cross-sectional study of grade 9 students evaluating adiposity, lipids and blood pressure. Data collected by Heart Niagara Inc. through the Healthy Heart Schools' Program. Parents completed questionnaires, evaluating family history of dyslipidemia, hypertension, diabetes and early cardiovascular disease events in parents and siblings (first-degree relatives), and grandparents (second-degree relatives). Associations between positive risk factor findings in adolescents and presence of a positive family history were assessed in logistic regression models. N = 4014 adolescents ages 14-15 years were screened; 3467 (86 %) provided family medical history. Amongst adolescents, 4.7 % had dyslipidemia, 9.5 % had obesity, and 3.5 % had elevated blood pressure. Central adiposity (waist-to-height ratio ≥0.5) in the adolescent was associated with increased odds of diabetes in first- (OR:2.0 (1.6-2.6), p < 0.001) and second-degree relatives (OR:1.3 (1.1-1.6), p = 0.002). Dyslipidemia was associated with increased odds of diabetes (OR:1.6 (1.1-2.3), p < 0.001), hypertension (OR:2.2 (1.5-3.2), p < 0.001) and dyslipidemia (OR:2.2 (1.5-3.2),p < 0.001) in first degree relatives. Elevated blood pressure did not identify increased odds of a positive family history. Presence of obesity and/or dyslipidemia in adolescents identified through a universal school-based screening program is associated with risk factor clustering within families. Universal pediatric cardiometabolic screening may be an effective entry into reverse cascade screening.
Niu, Zhijie; Feng, Yong; Hu, Zhengmao; Li, Jiada; Sun, Jie; Chen, Hongsheng; He, Chufeng; Wang, Xueping; Jiang, Lu; Liu, Yalan; Cai, Xinzhang; Wang, Lili; Cai, Yuxiang; Liu, Xuezhong; Mei, Lingyun
Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. The phenotype of the Chinese family was characterized using audiologic testing and pedigree analysis. The combined approach of array screening and whole-exome sequencing was used to identify the disease-causing gene in this family. This pedigree, in which the affected subjects presented isolated low-frequency sensorineural hearing impairment with childhood onset, was associated with autosomal dominant inheritance of the c.2591A > G mutation in exon 8 of the Wolframin syndrome 1 (WFS1) gene which was not present in 286 unrelated controls with matched ancestry and is highly conserved across species. In addition, several mutations affecting the Glu864 residue have been previously identified in different populations, suggesting that this site is likely to be a mutational hot spot. We identified a novel substitution, Glu864Gly, of WFS1 as the causative variant for this pedigree. Our data extend the mutation spectrum of the WFS1 gene in Chinese individuals and may contribute to establishing a better genotype-phenotype correlation for LFSNHL. Copyright © 2017 Elsevier B.V. All rights reserved.
Donna S Mackay
Full Text Available Primary open-angle glaucoma (POAG is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adult-onset POAG segregating in an African-American family. Exome sequencing identified a novel missense variant (c.418C>T, p.Arg140Trp in exon-5 of the gene coding for epidermal growth factor (EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1 that co-segregated with disease in the family. Linkage and haplotype analyses with microsatellite markers indicated that the disease interval overlapped a known POAG locus (GLC1H on chromosome 2p. The p.Arg140Trp substitution was predicted in silico to have damaging effects on protein function and transient expression studies in cultured cells revealed that the Trp140-mutant protein exhibited increased intracellular accumulation compared with wild-type EFEMP1. In situ hybridization of the mouse eye with oligonucleotide probes detected the highest levels of EFEMP1 transcripts in the ciliary body, cornea, inner nuclear layer of the retina, and the optic nerve head. The recent finding that a common variant near EFEMP1 was associated with optic nerve-head morphology supports the possibility that the EFEMP1 variant identified in this POAG family may be pathogenic.
Atividade da gama glutamil transpeptidase urinária, dosagens séricas de uréia e creatinina como meios diagnósticos auxiliares na nefrotoxicidade induzida por aminoglicosídeo em cães Urinary gamma glutamyl transpeptidase activity, urinalysis, bun and creatinine serum dosages as a auxiliary diagnostic mean in dogs nephrotoxicity induced by aminoglycosides
Carla Rosane de Aguiar Hennemann
Full Text Available Foram utilizados 11 cães, hígidos, com idade entre 1 e 5 anos. Inicialmente procedeu-se à determinação dos valores basais através de cinco colheitas diárias de urina e sangue, e realizou-se a urinálise, determinação da atividade da gama glutamil transpeptidase urinária, dosagens sérica de uréia e creatinina. A nefrotoxicidade foi induzida com a utilização de10mg/kg de gentamicina, 3 vezes ao dia, durante 14 dias. As colheitas de urina foram realizadas a cada 24 hors e o sangue foi colhido a cada 48 horas, durante 14 dias. Após este período os cães foram submetidos à eutanásia, procedendo-se à necropsia, e estudo histopatológico dos rins. Os sinais clínicos apresentados foram apatia, anorexia, poliúria, oligúria, anúria, polidipsia, vômito e diarréia. Pela urinálise observou-se a ocorrência de proteinúria, glicosúria, hematúria, cilindrúria, celulúria e isostenúria; os valores de gama glutamil transpeptidase urinária elevaram-se de forma crescente a partir de 24 horas de administração da gentamicina até o final do experimento, a azotemia foi observada no 12° e 14° dias da pesquisa. Na avaliação histopatológica observou-se nefrose tubular aguda. Com base nos resultados obtidos pode-se concluir que a mensuração da atividade da gama glutamil transpeptidase urinária é um sensível indicador de lesão tubular renal possibilitando o diagnóstico precoce, juntamente com a urinálise.Eleven healthy dogs, ranging from one to five years old, were used for this study. Base line values were determined through five daily samples of urine for urinalysis and urinary gamma glutamyl transpeptidase activity, and blood for serum dosage of BUN and creatinine. Nephrotoxicity was induced using 10mg/kg of gentamicin, 3 times a day (tid, for 14 days. Urine samples were drawn every 24 hours and blood samples every 48 hours, for 14 days. After this period, the dogs were euthanized and necropsy was done for further
Hansen, Lars; Eiberg, Hans Rudolf Lytchoff; Barrett, Timothy
Wolfram syndrome (WS) is a neuro-degenerative autosomal recessive (AR) disorder (OMIM #222300) caused by mutations in the WFS1 gene on 4p16.1. More than 120 mutations have been identified in WFS1 associated with AR WS, as well as autosomal dominant nonsyndromic low-frequency sensorineural hearing...
Yelland, Jane; Riggs, Elisha; Wahidi, Sayed; Fouladi, Fatema; Casey, Sue; Szwarc, Josef; Duell-Piening, Philippa; Chesters, Donna; Brown, Stephanie
Refugees have poor mental, social and physical health related to experiences of trauma and stresses associated with settlement, however little is known about how refugee families experience maternity and early childhood services. The aim of this study was to explore the responsiveness of health services to the social and mental health of Afghan women and men at the time of having a baby. Participatory methods including community engagement and consultation with the Afghan community and service providers in Melbourne, Australia. Bicultural researchers conducted interviews with Afghan women and men who had recently had a baby. Interviews and focus groups were also conducted with health professionals working in the region. Thirty interviews were conducted with Afghan women and men who had recently had a baby. Thirty-four health professionals participated in an interview or focus group.Afghan women and men reported significant social hardship during the period before and after having a baby in Australia, but were rarely asked about their social health by maternity and early childhood services.Most health professionals recognised that knowledge and understanding of their client's migration history and social circumstances was relevant to the provision of high quality care. However, inquiring about refugee background, and responding to non-clinical needs of refugee families was challenging for many health professionals. Factors that made it more difficult for health professionals to engage with Afghan families in pregnancy included limited understanding of the context of migration, dependency of many Afghan women on their husband for interpreting, short appointments, and the high likelihood of seeing different health professionals at each antenatal visit. Community-based maternal and child health nurses had more scope to work with interpreters, and build relationships with families, providing a stronger foundation for identifying and responding to complex social
Gao Lei; Liang Bo; Fares Mario A; Sen Lin; Wang Bo; Wang Ting; Su Ying-Juan
Abstract Background The chloroplast-localized ribulose-1, 5-biphosphate carboxylase/oxygenase (Rubisco), the primary enzyme responsible for autotrophy, is instrumental in the continual adaptation of plants to variations in the concentrations of CO2. The large subunit (LSU) of Rubisco is encoded by the chloroplast rbcL gene. Although adaptive processes have been previously identified at this gene, characterizing the relationships between the mutational dynamics at the protein level may yield c...
Pant, Niraj; Srivastava, S P
The study describes the concentrations of zinc, magnesium, copper, iron, and biochemical markers of seminal vesicle and prostate in seminal plasma of different categories of infertile men. The zinc level in oligasthenospermic subjects was significantly higher than in azoospermic, asthenospermic, and oligospermic subjects. The gamma-glutamyl transpeptidase activity in both oligoasthenospermic and azoospermic subjects were significantly lower than in asthenospermic and oligospermic individuals. There was no significant difference in iron, copper, and magnesium levels and acid phosphatase activity among the different infertile categories. A positive correlation between zinc and acid phosphatase (r=0.84, r= 0.73; p < 0.05), and between copper and fructose (r=0.81, r=0.72; p<0.05) was observed in oligoasthenospermic and azoospermic men, respectively. On the basis of our results, it may be postulated that there is a direct effect of the trace elements zinc and copper on acid phosphatase and fructose, respectively, in oligoasthenospermic and azoospermic subjects.
Full Text Available Familial dysautonomia (FD is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C, leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ELP1. Small non-coding RNAs known as microRNAs (miRNAs are important post-transcriptional regulators of gene expression and play an essential role in the nervous system development and function. To better understand the neuronal specificity of IKAP loss, we examined expression of miRNAs in human olfactory ecto-mesenchymal stem cells (hOE-MSCs from five control individuals and five FD patients. We profiled the expression of 373 miRNAs using microfluidics and reverse transcription coupled to quantitative PCR (RT-qPCR on two biological replicate series of hOE-MSC cultures from healthy controls and FD patients. This led to the total identification of 26 dysregulated miRNAs in FD, validating the existence of a miRNA signature in FD. We then selected the nine most discriminant miRNAs for further analysis. The signaling pathways affected by these dysregulated miRNAs were largely within the nervous system. In addition, many targets of these dysregulated miRNAs had been previously demonstrated to be affected in FD models. Moreover, we found that four of our nine candidate miRNAs target the neuron-specific splicing factor NOVA1. We demonstrated that overexpression of miR-203a-3p leads to a decrease of NOVA1, counter-balanced by an increase of IKAP, supporting a potential interaction between NOVA1 and IKAP. Taken together, these results reinforce the choice of miRNAs as potential therapeutic targets and suggest that NOVA1 could be a regulator of FD pathophysiology.
Hashmi, Jamil Amjad; Albarry, Maan Abdullah; Almatrafi, Ahmed M; Albalawi, Alia M; Mahmood, Amer; Basit, Sulman
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP. WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8). Sanger sequencing validates the variant discovered through exome in all 12 affected individuals and showed that this mutation is segregating with RP phenotype in an autosomal recessive manner in 51 individuals of the family tested here. Our study expands the mutation spectrum of EYS gene in RP patients and extends the body of evidence that supports the importance of EYS gene in eye development. © 2017 Japanese Teratology Society.
Jumana Yousuf Al-Aama
Full Text Available Celiac disease (CD, a multi-factorial auto-inflammatory disease of the small intestine, is known to occur in both sporadic and familial forms. Together HLA and Non-HLA genes can explain up to 50% of CD's heritability. In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR pattern. We have identified a rare homozygous insertion c.1683_1684insATT, in the conserved coding region of AK5 gene that showed classical AR model segregation in this family. Sequence validation of 200 chromosomes each of sporadic CD cases and controls, revealed that this extremely rare (EXac MAF 0.000008 mutation is highly penetrant among general Saudi populations (MAF is 0.62. Genotype and allelic distribution analysis have indicated that this AK5 (c.1683_1684insATT mutation is negatively selected among patient groups and positively selected in the control group, in whom it may modify the risk against CD development [p<0.002]. Our observation gains additional support from computational analysis which predicted that Iso561 insertion shifts the existing H-bonds between 400th and 556th amino acid residues lying near the functional domain of adenylate kinase. This shuffling of amino acids and their H-bond interactions is likely to disturb the secondary structure orientation of the polypeptide and induces the gain-of-function in nucleoside phosphate kinase activity of AK5, which may eventually down-regulates the reactivity potential of CD4+ T-cells against gluten antigens. Our study underlines the need to have population-specific genome databases to avoid false leads and to identify true candidate causal genes for the familial form of celiac disease.
Pradhan, Seema; Kant, Chandra; Verma, Subodh; Bhatia, Sabhyata
The CCCH zinc finger is a group of proteins characterised by a typical motif consisting of three cysteine residues and one histidine residue. These proteins have been reported to play important roles in regulation of plant growth, developmental processes and environmental responses. In the present study, genome wide analysis of the CCCH zinc finger gene family was carried out in the available chickpea genome. Various bioinformatics tools were employed to predict 58 CCCH zinc finger genes in chickpea (designated CarC3H1-58), which were analysed for their physio-chemical properties. Phylogenetic analysis classified the proteins into 12 groups in which members of a particular group had similar structural organization. Further, the numbers as well as the types of CCCH motifs present in the CarC3H proteins were compared with those from Arabidopsis and Medicago truncatula. Synteny analysis revealed valuable information regarding the evolution of this gene family. Tandem and segmental duplication events were identified and their Ka/Ks values revealed that the CarC3H gene family in chickpea had undergone purifying selection. Digital, as well as real time qRT-PCR expression analysis was performed which helped in identification of several CarC3H members that expressed preferentially in specific chickpea tissues as well as during abiotic stresses (desiccation, cold, salinity). Moreover, molecular characterization of an important member CarC3H45 was carried out. This study provides comprehensive genomic information about the important CCCH zinc finger gene family in chickpea. The identified tissue specific and abiotic stress specific CCCH genes could be potential candidates for further characterization to delineate their functional roles in development and stress.
Molly B. Sheridan
Full Text Available Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition. Both required hormone treatment to produce secondary sex characteristics and pubertal development beyond Tanner 1. SNP array analysis of both probands was performed to detect shared regions of homozygosity which may harbor homozygous mutations in a gene causing their common features of abnormal pubertal development, alopecia, and variable cognitive delay. Our patients shared multiple homozygous genomic regions; ten shared regions were >1 Mb in length and constituted 0.99% of the genome. DCAF17, encoding a transmembrane nuclear protein of uncertain function, was the only gene identified in a homozygous region known to cause hypogonadotropic hypogonadism. DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, hypogonadotropic hypogonadism, sensorineural hearing loss, diabetes mellitus, and extrapyramidal movements. Sequencing of the coding exons and flanking intronic regions of DCAF17 in the proband revealed homozygosity for a previously described founder mutation (c.436delC. Targeted DCAF17 sequencing of his affected sibling revealed the same homozygous mutation. This family illustrates the utility of SNP array testing in consanguineous families to efficiently and inexpensively identify regions of genomic homozygosity in which genetic candidates for recessive conditions can be identified.
Niu, Erli; Shang, Xiaoguang; Cheng, Chaoze; Bao, Jianghao; Zeng, Yanda; Cai, Caiping; Du, Xiongming; Guo, Wangzhen
COBRA-Like (COBL) genes, which encode a plant-specific glycosylphosphatidylinositol (GPI) anchored protein, have been proven to be key regulators in the orientation of cell expansion and cellulose crystallinity status. Genome-wide analysis has been performed in A. thaliana, O. sativa, Z. mays and S. lycopersicum, but little in Gossypium. Here we identified 19, 18 and 33 candidate COBL genes from three sequenced cotton species, diploid cotton G. raimondii, G. arboreum and tetraploid cotton G. hirsutum acc. TM-1, respectively. These COBL members were anchored onto 10 chromosomes in G. raimondii and could be divided into two subgroups. Expression patterns of COBL genes showed highly developmental and spatial regulation in G. hirsutum acc. TM-1. Of them, GhCOBL9 and GhCOBL13 were preferentially expressed at the secondary cell wall stage of fiber development and had significantly co-upregulated expression with cellulose synthase genes GhCESA4, GhCESA7 and GhCESA8. Besides, GhCOBL9 Dt and GhCOBL13 Dt were co-localized with previously reported cotton fiber quality quantitative trait loci (QTLs) and the favorable allele types of GhCOBL9 Dt had significantly positive correlations with fiber quality traits, indicating that these two genes might play an important role in fiber development. PMID:26710066
Manikam, Logan; Shah, Rakhee; Reed, Kate; Santini, Gupreet; Lakhanpaul, Monica
To facilitate South Asian (SA) families and health-care professionals (HCPs) participation in a prioritization exercise to co-produce child health research and public awareness agendas. A three-stage process was adopted involving the following: (i) systematic literature review, (ii) HCP scoping survey and (iii) focus groups of SA adolescents and families. A Punjabi- and Urdu-speaking community facilitator moderated focus groups. A British Sign Language interpreter assisted in the hard of hearing group. Concordant and discordant themes between HCPs and SAs were identified. National survey of HCPs. Leicestershire for SA families. A total of 27 HCPs and 35 SAs. SAs varied by descent, age (16-74), UK stay length (3-57 years) religion and disability. Ranked by submission frequency in the survey, HCPs prioritized (i) public awareness on obesity, mental health, health-care access, vitamin D and routine health checks and (ii) research on nutrition, diabetes, health education and parenting methods. South Asians prioritized research into the effectiveness of alternative medicines, a theme not identified by HCPs. Both HCPs and SAs prioritized increased research or public awareness on mental health illness, blood and organ donation, obesity and diet. Whilst HCPs identified diabetes, vitamin D and rickets together with parenting methods were important priorities requiring increased public awareness, and these views were not shared by SAs. Minority groups are not always included in priority setting exercises due to concerns about language and perceived difficulty with accessing communities. Through this co-production exercise, we showed that it is possible and essential. © 2016 The Authors Health Expectations Published by John Wiley & Sons Ltd.
Tan-McGrory, Aswita; Bennett-AbuAyyash, Caroline; Gee, Stephanie; Dabney, Kirk; Cowden, John D; Williams, Laura; Rafton, Sarah; Nettles, Arie; Pagura, Sonia; Holmes, Laurens; Goleman, Jane; Caldwell, LaVone; Page, James; Oceanic, Patricia; McMullen, Erika J; Lopera, Adriana; Beiter, Sarah; López, Lenny
By 2020, the child population is projected to have more racial and ethnic minorities make up the majority of the populations and health care organizations will need to have a system in place that collects accurate and reliable demographic data in order to monitor disparities. The goals of this group were to establish sample practices, approaches and lessons learned with regard to race, ethnicity, language, and other demographic data collection in pediatric care setting. A panel of 16 research and clinical professional experts working in 10 pediatric care delivery systems in the US and Canada convened twice in person for 3-day consensus development meetings and met multiple times via conference calls over a two year period. Current evidence on adult demographic data collection was systematically reviewed and unique aspects of data collection in the pediatric setting were outlined. Human centered design methods were utilized to facilitate theme development, facilitate constructive and innovative discussion, and generate consensus. Group consensus determined six final data collection domains: 1) caregivers, 2) race and ethnicity, 3) language, 4) sexual orientation and gender identity, 5) disability, and 6) social determinants of health. For each domain, the group defined the domain, established a rational for collection, identified the unique challenges for data collection in a pediatric setting, and developed sample practices which are based on the experience of the members as a starting point to allow for customization unique to each health care organization. Several unique challenges in the pediatric setting across all domains include: data collection on caregivers, determining an age at which it is appropriate to collect data from the patient, collecting and updating data at multiple points across the lifespan, the limits of the electronic health record, and determining the purpose of the data collection before implementation. There is no single approach that will
Full Text Available Integrating genetic data from families with highly penetrant forms of disease together with genetic data from outbred populations represents a promising strategy to uncover the complete frequency spectrum of risk alleles for complex traits such as rheumatoid arthritis (RA. Here, we demonstrate that rare, low-frequency and common alleles at one gene locus, phospholipase B1 (PLB1, might contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry and also in unrelated individuals from the general population (European ancestry. Through identity-by-descent (IBD mapping and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R mutation at the PLB1 gene on 2q23, which significantly co-segregated with RA in family members with a dominant mode of inheritance (P = 0.009. We further evaluated PLB1 variants and risk of RA using a GWAS meta-analysis of 8,875 RA cases and 29,367 controls of European ancestry. We identified significant contributions of two independent non-coding variants near PLB1 with risk of RA (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P = 3.2 × 10(-6. Finally, we performed deep exon sequencing of PLB1 in 1,088 RA cases and 1,088 controls (European ancestry, and identified suggestive dispersion of rare protein-coding variant frequencies between cases and controls (P = 0.049 for C-alpha test and P = 0.055 for SKAT. Together, these data suggest that PLB1 is a candidate risk gene for RA. Future studies to characterize the full spectrum of genetic risk in the PLB1 genetic locus are warranted.
McCauley, Mary; Head, Jennifer; Lambert, Jaki; Zafar, Shamsa; van den Broek, Nynke
Violence against women is an international public health concern and a violation of women's rights. Domestic violence can first occur, and increase in frequency and severity, during and after pregnancy. Healthcare providers have the potential to identify and support women who experience domestic violence. We sought to investigate the knowledge and perceptions of domestic violence among doctors who provide routine antenatal and postnatal care at healthcare facilities in Pakistan. In addition, we explored possible management options from policy makers, and enabling factors of and barriers to the routine screening of domestic violence. Semi-structured key informant interviews were conducted with doctors (n = 25) working in public and private hospitals and with officials involved in domestic violence policy development (n = 5) in Islamabad, Pakistan. Transcribed interviews were coded and codes grouped into categories. Thematic framework analysis was undertaken to identify emerging themes. Most doctors have a good awareness of domestic violence and a desire to help women who report domestic violence during and after pregnancy. Enabling factors included doctors' ability to build rapport and trust with women and their suggestion that further education of both healthcare providers and women would be beneficial. However, domestic violence is often perceived as a "family issue" that is not routinely discussed by healthcare providers. Lack of resources, lack of consultation time and lack of effective referral pathways or support were identified as the main barriers to the provision of quality care. Doctors and policy advisors are aware of the problem and open to screening for domestic violence during and after pregnancy. It is suggested that the provision of a speciality trained family liaison officer or healthcare provider would be beneficial. Clear referral pathways need to be established to provide quality care for these vulnerable women in Pakistan.
Garcelon, Nicolas; Neuraz, Antoine; Benoit, Vincent; Salomon, Rémi; Burgun, Anita
The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW). We developed a pipeline to process 1.6 million reports from multiple sources. This pipeline is part of the load process of the Necker Hospital CDW. We identified patients with "Lupus and diarrhea," "Crohn's and diabetes," and "NPHP1" from the CDW. The overall precision, recall, specificity, and F-measure were 0.85, 0.98, 0.93, and 0.91, respectively. The proposed method generates a highly accurate identification of cases from a CDW of rare disease EHRs. © The Author 2016. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: email@example.com
Full Text Available Abstract Background The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. The two major breast cancer susceptibility genes BRCA1 and BRCA2 are involved in 30% of hereditary breast cancer cases, but the discovery of additional breast cancer predisposition genes for the non-BRCA1/2 breast cancer families has so far been unsuccessful. Results In order to evaluate the power improvement provided by using SNP markers in a real situation, we have performed a whole genome screen of 19 non-BRCA1/2 breast cancer families using 4720 genomewide SNPs with Illumina technology (Illumina's Linkage III Panel, with an average distance of 615 Kb/SNP. We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. These results were consistent in analyses that excluded SNPs in high linkage disequilibrium. The results were compared with those obtained previously using a 10 cM microsatellite scan (STR-GWS and we found lower or not significant linkage signals with STR-GWS data compared to SNP data in all cases. Conclusion Our results show the power increase that SNPs can supply in linkage studies.
Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.
Zuo, Yongchun; Lv, Yang; Wei, Zhuying; Yang, Lei; Li, Guangpeng; Fan, Guoliang
Defensins as one of the most abundant classes of antimicrobial peptides are an essential part of the innate immunity that has evolved in most living organisms from lower organisms to humans. To identify specific defensins as interesting antifungal leads, in this study, we constructed a more rigorous benchmark dataset and the iDPF-PseRAAAC server was developed to predict the defensin family and subfamily. Using reduced dipeptide compositions were used, the overall accuracy of proposed method increased to 95.10% for the defensin family, and 98.39% for the vertebrate subfamily, which is higher than the accuracy from other methods. The jackknife test shows that more than 4% improvement was obtained comparing with the previous method. A free online server was further established for the convenience of most experimental scientists at http://wlxy.imu.edu.cn/college/biostation/fuwu/iDPF-PseRAAAC/index.asp. A friendly guide is provided to describe how to use the web server. We anticipate that iDPF-PseRAAAC may become a useful high-throughput tool for both basic research and drug design.
Jang, Mi Ae; Lee, Chang Woo; Kim, Jin Kyung; Ki, Chang Seok
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features without major structural anomalies and tested negative for the NIPBL gene. His younger sister, mother, and maternal grandmother presented with mild mental retardation. By exome sequencing of the proband, a novel SMC1A variant, c.3178G>A, was identified, which was expected to cause an amino acid substitution (p.Glu1060Lys) in the highly conserved coiled-coil domain of the SMC1A protein. Sanger sequencing confirmed that the three female relatives with mental retardation also carry this variant. Our results reveal that SMC1A gene defects are associated with milder phenotypes of CdLS. Furthermore, we showed that exome sequencing could be a useful tool to identify pathogenic variants in patients with CdLS.
van Erkelens, A; Sie, A S; Manders, P; Visser, A; Duijm, L E; Mann, R M; Ten Voorde, M; Kroeze, H; Prins, J B; Hoogerbrugge, N
Identifying high familial breast cancer (FBC) risk improves detection of yet unknown BRCA1/2-mutation carriers, for whom BC risk is both highly likely and potentially preventable. We assessed whether a new online self-test could identify women at high FBC risk in population-based BC screening without inducing anxiety or distress. After their visit for screening mammography, women were invited by email to take an online self-test for identifying highly increased FBC risk-based on Dutch guidelines. Exclusion criteria were previously diagnosed as increased FBC risk or a personal history of BC. Anxiety (State-Trait Anxiety Inventory Dutch Version), distress (Hospital Anxiety Depression Scale) and BC risk perception were assessed using questionnaires, which were completed immediately before and after taking the online self-test and 2 weeks later. Of the 562 women invited by email, 406 (72%) completed the online self-test while 304 also completed questionnaires (response rate 54%). After exclusion criteria, 287 (51%) were included for data analysis. Median age was 56 years (range 50-74). A high or moderate FBC risk was identified in 12 (4%) and three (1%) women, respectively. After completion of the online self-test, anxiety and BC risk perception were decreased while distress scores remained unchanged. Levels were below clinical relevance. Most women (85%) would recommend the self-test; few (3%) would not. The online self-test identified previously unknown women at high FBC risk (4%), who may carry a BRCA1/2-mutation, without inducing anxiety or distress. We therefore recommend offering this self-test to women who attend population-based screening mammography for the first time. Copyright © 2017 Elsevier Ltd. All rights reserved.
Full Text Available BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes. METHODOLOGY/PRINCIPAL FINDINGS: We studied three subjects with craniofacial features and hypocalcemia (group 1, two subjects with craniofacial features alone (group 2, and three subjects with normal phenotype within a single Japanese family. Fluorescence in situ hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous TBX1 frameshift mutation (c.1253delA, p.Y418fsX459 specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The TBX1 mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain. CONCLUSIONS/SIGNIFICANCE: Clinical features in groups 1+2 are well explained by the TBX1 mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.
Wang, Wan-Li; Zheng, Xing-Long; Zhang, Zhi-Yong; Zhou, Ying; Hao, Jie; Tang, Gang; Li, Ou; Xiang, Jun-Xi; Wu, Zheng; Wang, Bo
Liver fibrosis and cirrhosis is associated with the prognosis of patients with hepatocellular carcinoma (HCC) after treatment. The γ-glutamyl transpeptidase to platelet ratio (GPR) is reported to predict significant liver fibrosis and cirrhosis. The aim of this study was to investigate the predictive value of preoperative GPR on the recurrence and survival of patients with HCC who underwent curative hepatectomy.A retrospective review of demographics, medical records, and prognosis of patients with hepatitis B virus (HBV)-related HCC was performed. Overall survival (OS) and disease-free survival (DFS) were evaluated using Kaplan-Meier method, and the log-rank test was used to analyze differences in recurrence and survival. Univariate and multivariate analyses were used for significance of prognostic factor.A total of 357 patients with HBV-related HCC were included in this analysis. The preoperative GPR was associated with recurrence and survival rates, independent of HCC progression or tumor marker levels, in a multivariate analysis. OS was higher in patients with a GPR GPR ≥0.84 than in those with GPR GPR score of ≥0.84 represents a major risk factor for the poor prognosis for HBV-related HCC after hepatic resection, and GPR served as an independent predictive factor for HBV-related HCC OS.
Liu, Longgen; Lan, Qing; Lin, Lin; Lu, Jianchun; Ye, Chunyan; Tao, Qian; Cui, Manman; Zheng, Shuqin; Zhang, Xiujun; Xue, Yuan
The gamma-glutamyl transpeptidase-to-platelet ratio (GPR) is a new noninvasive marker for assessing liver fibrosis. We aimed to evaluate the performance of GPR for prediction of 90-day mortality in patients with acute-on-chronic liver failure (ACLF). A total of 355 patients with HBV-associated ACLF were enrolled from two clinical centers and divided into training group (n=210) and validation group (n=145). Potential risk factors for 90-day mortality were analyzed. Age, MELD score and GPR were independent risk factors associated with ACLF prognosis. A new scoring system (MELD-GPR) was developed. MELD-GPR=9.211-0.029×age-0.290×MELD-0.460×GPR. For ACLF patients with liver cirrhosis, the area under the receiver operating characteristic curve (AUROC) of MELD-GPR was 0.788, which was significantly higher than that of MELD and MELD-Na (0.706 and 0.666, respectively). Patients were stratified into three groups according to MELD-GPR scores (high risk: 0.95), and the high-risk group (MELD-GPRGPRGPR into MELD may provide more accurate survival prediction in patients with HBV-ACLF. Copyright © 2017 Elsevier B.V. All rights reserved.
Chi, Meng-Chun; Lo, Yi-Hui; Chen, Yi-Yu; Lin, Long-Liu; Merlino, Antonello
γ-Glutamyl transpeptidases (γ-GTs, EC 18.104.22.168) are a class of ubiquitous enzymes which initiate the cleavage of extracellular glutathione (γ-Glu-Cys-Gly, GSH) into its constituent glutamate, cysteine, and glycine and catalyze the transfer of its γ-glutamyl group to water (hydrolysis), amino acids or small peptides (transpeptidation). These proteins utilize a conserved Thr residue to process their chains into a large and a small subunit that then form the catalytically competent enzyme. Multiple sequence alignments have shown that some bacterial γ-GTs, including that from Bacillus licheniformis (BlGT), possess an extra sequence at the C-terminal tail of the large subunit, whose role is unknown. Here, autoprocessing, structure, catalytic activity and stability against both temperature and the chemical denaturant guanidinium hydrochloride of six BlGT extra-sequence deletion mutants have been characterized by SDS-PAGE, circular dichroism, intrinsic fluorescence and homology modeling. Data suggest that the extra sequence has a crucial role in enzyme activation and structural stability. Our results assist in the development of a structure-based interpretation of the autoprocessing reaction of γ-GTs and are helpful to unveil the molecular bases of their structural stability. Copyright © 2014 Elsevier B.V. All rights reserved.
Flahou, Bram; Haesebrouck, Freddy; Chiers, Koen; Van Deun, Kim; De Smet, Lina; Devreese, Bart; Vandenberghe, Isabel; Favoreel, Herman; Smet, Annemieke; Pasmans, Frank; D'Herde, Katharina; Ducatelle, Richard
Helicobacter (H.) suis is the most prevalent non-H. pylori Helicobacter species colonizing the stomach of humans suffering from gastric disease. In the present study, we aimed to unravel the mechanism used by H. suis to induce gastric epithelial cell damage. H. suis lysate induced mainly apoptotic death of human gastric epithelial cells. Inhibition of γ-glutamyl transpeptidase (GGT) activity present in H. suis lysate and incubation of AGS cells with purified native and recombinant H. suis GGT showed that this enzyme was partly responsible for the observed apoptosis. Supplementation of H. suis or H. pylori GGT-treated cells with glutathione strongly enhanced the harmful effect of both enzymes and resulted in the induction of oncosis/necrosis, demonstrating that H. suis and H. pylori GGT-mediated degradation of glutathione and the resulting formation of glutathione degradation products play a direct and active role in the induction of gastric epithelial cell death. This was preceded by an increase of extracellular H(2)O(2) concentrations, generated in a cell-independent manner and causing lipid peroxidation. In conclusion, H. suis and H. pylori GGT-mediated generation of pro-oxidant glutathione degradation products brings on cell damage and causes apoptosis or necrosis, dependent on the amount of extracellular glutathione available as a GGT substrate. © 2011 Blackwell Publishing Ltd.
Claudia Vianna Maurer-Morelli
Full Text Available We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb in a family with mesial temporal lobe epilepsy (MTLE. Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ~12cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Zmax of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.
Cowles, Martis W; Brown, David D R; Nisperos, Sean V; Stanley, Brianna N; Pearson, Bret J; Zayas, Ricardo M
In contrast to most well-studied model organisms, planarians have a remarkable ability to completely regenerate a functional nervous system from a pluripotent stem cell population. Thus, planarians provide a powerful model to identify genes required for adult neurogenesis in vivo. We analyzed the basic helix-loop-helix (bHLH) family of transcription factors, many of which are crucial for nervous system development and have been implicated in human diseases. However, their potential roles in adult neurogenesis or central nervous system (CNS) function are not well understood. We identified 44 planarian bHLH homologs, determined their patterns of expression in the animal and assessed their functions using RNAi. We found nine bHLHs expressed in stem cells and neurons that are required for CNS regeneration. Our analyses revealed that homologs of coe, hes (hesl-3) and sim label progenitors in intact planarians, and following amputation we observed an enrichment of coe(+) and sim(+) progenitors near the wound site. RNAi knockdown of coe, hesl-3 or sim led to defects in CNS regeneration, including failure of the cephalic ganglia to properly pattern and a loss of expression of distinct neuronal subtype markers. Together, these data indicate that coe, hesl-3 and sim label neural progenitor cells, which serve to generate new neurons in uninjured or regenerating animals. Our study demonstrates that this model will be useful to investigate how stem cells interpret and respond to genetic and environmental cues in the CNS and to examine the role of bHLH transcription factors in adult tissue regeneration.
Baba, Kaori; Kataoka, Yaeko
The aims of this study were to determine the rate of women who are high-risk for child abuse and neglect in a perinatal unit in Japan, and to identify the factors associated with risk level. To assess the potential risk for child abuse and neglect the Japanese version of the Kempe Family Stress Checklist (FSC-J) was used to guide interviews with postpartum women. FSC-J uses a three-point scale to score 10 categories, categorizing responses as "no risk=0", "risk=5", and "high risk=10". The range of FSC-J is 0-100. Using an established cutoff point of 25, subjects were divided into high and low risk groups. For both groups, relationships between factors were analyzed. Of the 174 subjects who agreed to participate, 12 (6.9%) scored high-risk, and 162 (93.1%) scored low-risk. Adjusted odds ratio identified three associated factors as important for predicting risk level: past mental illness (OR=341.1), previous experience of intimate partner violence (OR=68.0), and having a partner who was unemployed (OR=14.5). Although this study was on a small sample of women in one hospital in Japan and a larger population would make this study much stronger, these results suggest that some 6.9% of postpartum women in Japan may be at high-risk for child abuse and neglect. It is critical, therefore, to develop a system for screening, intervention, and referral for such women and their children. Copyright © 2014 Elsevier Ltd. All rights reserved.
del Bello, B; Paolicchi, A; Comporti, M; Pompella, A; Maellaro, E
It has been reported in several cell lines that exposure to low levels of reactive oxygen species can exert a stimulatory effect on their proliferation. We have previously shown that mild oxidative conditions can also counteract apoptotic stimuli. A constitutive cellular production of low levels of superoxide and hydrogen peroxide originates from various sources; among these, gamma-glutamyl transpeptidase (GGT), the plasma membrane-bound activity in charge of metabolizing extracellular reduced glutathione, has recently been included. Since the inhibition of GGT is a sufficient stimulus for the induction of apoptosis in selected cell lines, we investigated whether this effect might result from the suppression of the mentioned GGT-dependent prooxidant reactions, on the theory that the latter may represent a basal antiapoptotic and proliferative signal for the cell. Experiments showed that: 1) GGT activity in U937 monoblastoid cells is associated with the production of low levels of hydrogen peroxide, and two independent GGT inhibitors cause a dose-dependent decrease of such GGT-dependent production of H2O2; 2) GGT inhibition with acivicin results in cell growth arrest, and induces cell death and DNA fragmentation with the ladder appearance of apoptosis; 3) treatment of cells with catalase--and even more with Trolox C--is able to decrease their proliferative rate; 4) GGT inhibition (with suppression of H2O2 production) results in a down-regulation of poly(ADP-ribose) polimerase (PARP) activity, which precedes the proteolytic cleavage of PARP molecule, such as that typically induced by caspases. The reported data suggest that the low H2O2 levels originating as a by-product during GGT activity are able to act as sort of a 'life signal' in U937 cells, insofar as they can maintain cell proliferation and protect against apoptosis, possibly through an up-regulation of PARP activity.
Skjøt, R L; Oettinger, T; Rosenkrands, I
), and the well-described ESAT-6 antigen. Genetic analyses demonstrated that TB10.4 as well as CFP10 belongs to the ESAT-6 family of low-mass proteins, whereas TB7.3 is a low-molecular-mass protein outside this family. The proteins were expressed in Escherichia coli, and their immunogenicity was tested...
Montgomery, Mary Jean; Quinn, Jim
This manual is designed to help child care providers develop, implement, and evaluate a family development plan for at-risk families. The plan's five components are designed to: (1) identify family strengths; (2) identify family needs; (3) identify community resources; (4) develop and implement a family action plan; and (5) monitor family…
Full Text Available Screening for pathogenic mutations in breast and ovarian cancer genes such as BRCA1/2, CHEK2 and RAD51C is common practice for individuals from high-risk families. However, test results may be ambiguous due to the presence of unclassified variants (UCV in the concurrent absence of clearly cancer-predisposing mutations. Especially the presence of intronic or exonic variants within these genes that possibly affect proper pre-mRNA processing poses a challenge as their functional implications are not immediately apparent. Therefore, it appears necessary to characterize potential splicing UCV and to develop appropriate classification tools. We investigated 30 distinct BRCA1 variants, both intronic and exonic, regarding their spliceogenic potential by commonly used in silico prediction algorithms (HSF, MaxEntScan along with in vitro transcript analyses. A total of 25 variants were identified spliceogenic, either causing/enhancing exon skipping or activation of cryptic splice sites, or both. Except from a single intronic variant causing minor effects on BRCA1 pre-mRNA processing in our analyses, 23 out of 24 intronic variants were correctly predicted by MaxEntScan, while HSF was less accurate in this cohort. Among the 6 exonic variants analyzed, 4 severely impair correct pre-mRNA processing, while the remaining two have partial effects. In contrast to the intronic alterations investigated, only half of the spliceogenic exonic variants were correctly predicted by HSF and/or MaxEntScan. These data support the idea that exonic splicing mutations are commonly disease-causing and concurrently prone to escape in silico prediction, hence necessitating experimental in vitro splicing analysis.
Pittman, Jon K; Hirschi, Kendal D
The Ca(2+)/Cation Antiporter (CaCA) superfamily is an ancient and widespread family of ion-coupled cation transporters found in nearly all kingdoms of life. In animals, K(+)-dependent and K(+)-indendent Na(+)/Ca(2+) exchangers (NCKX and NCX) are important CaCA members. Recently it was proposed that all rice and Arabidopsis CaCA proteins should be classified as NCX proteins. Here we performed phylogenetic analysis of CaCA genes and protein structure homology modelling to further characterise members of this transporter superfamily. Phylogenetic analysis of rice and Arabidopsis CaCAs in comparison with selected CaCA members from non-plant species demonstrated that these genes form clearly distinct families, with the H(+)/Cation exchanger (CAX) and cation/Ca(2+) exchanger (CCX) families dominant in higher plants but the NCKX and NCX families absent. NCX-related Mg(2+)/H(+) exchanger (MHX) and CAX-related Na(+)/Ca(2+) exchanger-like (NCL) proteins are instead present. Analysis of genomes of ten closely-related rice species and four Arabidopsis-related species found that CaCA gene family structures are highly conserved within related plants, apart from minor variation. Protein structures were modelled for OsCAX1a and OsMHX1. Despite exhibiting broad structural conservation, there are clear structural differences observed between the different CaCA types. Members of the CaCA superfamily form clearly distinct families with different phylogenetic, structural and functional characteristics, and therefore should not be simply classified as NCX proteins, which should remain as a separate gene family.
Lemoine, Maud; Shimakawa, Yusuke; Nayagam, Shevanthi; Khalil, Mustapha; Suso, Penda; Lloyd, Jo; Goldin, Robert; Njai, Harr-Freeya; Ndow, Gibril; Taal, Makie; Cooke, Graham; D'Alessandro, Umberto; Vray, Muriel; Mbaye, Papa Saliou; Njie, Ramou; Mallet, Vincent; Thursz, Mark
Simple and inexpensive non-invasive fibrosis tests are highly needed but have been poorly studied in sub-Saharan Africa. Using liver histology as a gold standard, we developed a novel index using routine laboratory tests to predict significant fibrosis in patients with chronic HBV infection in The Gambia, West Africa. We prospectively assessed the diagnostic accuracy of the novel index, Fibroscan, aspartate transaminase-to-platelet ratio index (APRI), and Fib-4 in Gambian patients with CHB (training set) and also in French and Senegalese CHB cohorts (validation sets). Of 135 consecutive treatment-naïve patients with CHB who had liver biopsy, 39% had significant fibrosis (Metavir fibrosis stage ≥F2) and 15% had cirrhosis (F4). In multivariable analysis, gamma-glutamyl transpeptidase (GGT) and platelet count were independent predictors of significant fibrosis. Consequently, GGT-to-platelet ratio (GPR) was developed. In The Gambia, the area under the receiver operating characteristic curve (AUROC) of the GPR was significantly higher than that of APRI and Fib-4 to predict ≥F2, ≥F3 and F4. In Senegal, the AUROC of GPR was significantly better than Fib-4 and APRI for ≥F2 (0.73, 95% CI 0.59 to 0.86) and better than Fib-4 and Fibroscan for ≥F3 (0.93, 0.87 to 0.99). In France, the AUROC of GPR to diagnose ≥F2 (0.72, 95% CI 0.59 to 0.85) and F4 (0.87, 0.76 to 0.98) was equivalent to that of APRI and Fib-4. The GPR is a more accurate routine laboratory marker than APRI and Fib-4 to stage liver fibrosis in patients with CHB in West Africa. The GPR represents a simple and inexpensive alternative to liver biopsy and Fibroscan in sub-Saharan Africa. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Rymenant, M E; Marchand, R
The use of the determination of the gamma-glutamyl-transpeptidase (GT), the 5'nucleotidase and of the isoenzymes of the alkaline phosphatase for the differential diagnoses of liver disease is discussed. It is concluded that the GT is a useful test to diagnose diseases of liver, common bile duct or pancreas, but without distinction between these illnessess. An affection of these organs is not very probable if the GT is normal, it is very probable if the level of activity exceeds 500 units. In cancer patients without jaundice, a normal level of this enzyme suggests the absence of metastases of the liver. The enzymatic activity is normal in case of bone affection but can be elevated in case of some neurological diseases and 3 to 4 days after the beginning of a myocardial infarction. An abnormally elevated 5'nucleotidase accompanied with an elevated alkaline phosphatase suggests strongly the presence of an hepatobiliary damage, except when the alkaline phosphatase is very elevated, which may cause an "apparent" increase of the 5'nucleotidase and except when the elevation is due to a bone damage. The rise in case of bone damage seems however not to take place by more than 10 % of the cases. This enzyme is also useful for the diagnoses of active chronic liver damages. The determination of the isoenzymes of the alkaline phosphatase seems especially useful in case of an increase of the phosphatase alkaline whilst the 5'nucleotidase and the liver tests are normal. It often gives the possibility to determine whether the increase of the alkaline phosphatase in that case can be ascribed to a bone or to a liver damage. The technical details are important. The electrophoresis on acrylamide and the inactivation by heat seem to be adequate methods. To the autors it appears that the determination of the GT and of the 5'nucleotidase can find place in the classical liver tests, from one could eliminate other tests such as the Hanger. As far as the determination of the isoenzymes of
Andresen, Christina Aaen; Smedegaard, Stine; Sylvestersen, Kathrine Beck
The Ankyrin and SOCS (Suppressor of Cytokine Signaling) box (ASB) family of proteins function as the substrate recognition subunit in a subset of Elongin-Cullin-SOCS (ECS) E3 ubiquitin ligases. Despite counting with 18 members in humans, the identity of the physiological targets of the Asb protei...
Kilburn, M. Rebecca; Maloney, Shannon I.
After an initial inventory of community indicators in its 2008 Shreveport-Bossier City "Community Counts" annual report, the Community Foundation of Shreveport-Bossier decided to focus existing funding related to children and families on the areas of education, health, and poverty, as well as develop new funds in these areas. These focal…
Horwitz, M.S.; Radich, J. [Fred Hutchinson Cancer Research Center, Seattle, WA (United States); Sabath, D.E. [Univ. of Washington, Seattle (United States)
The initial steps promoting carcinogenesis in the hematologic malignancies remain poorly understood. We report on a family with an incompletely penetrant, autosomal dominant syndrome of acute myelogenous leukemia, affecting at least eight adults from three generations. The affected individuals have developed leukemias differing in morphologic subtype, tumor cytogenetics, and abruptness of presentation. Within this family are found subtypes affecting the granulocytic, monocytic, and megakaryocytic lineages. At least one individual has a normal tumor karyotype while another has complex rearrangements including monsomy 7, trisomy 8 and translocation 1;7. Some have presented with acute onset and others with a protracted myelodysplasia syndrome. One person at fifty percent risk of inheriting this gene developed disseminated atypical mycobacterium infection in the absence of leukemia, but also without apparent causes for acquired deficiencies in cellular immunity. Features common to affected family members, including the individual with mycobacterium infection, are the early presence in bone marrow of red cell and platelet maturation defects. A search for mutations in diseased marrows fails to detect abnormalities of p53 exons 5, 6, 7 and 8 or N-ras codons 12, 13 and 61. We conclude that there is a gene in this family that probably acts early in hematopoetic differentiation and confers susceptibility to a wide range of leukemia subtypes spanning the maturation of the myeloid series.
Ez-Zaitouni, Zineb; Hilkens, Andrea; Gossec, Laure; Berg, Inger Jorid; Landewe, Robert; Ramonda, Roberta; Dougados, Maxime; van der Heijde, Desiree; van Gaalen, Floris
Background: The Assessment of SpondyloArthritis international Society (ASAS) definition of a positive family history (PFH) of spondyloarthritis (SpA) includes the following diseases in first-or second-degree relatives: ankylosing spondylitis (AS), acute anterior uveitis (AAU), reactive arthritis
Edsgärd, D; Scheel, M; Hansen, N T
To search for disease-related copy number variations (CNVs) in families with a high frequency of germ cell tumours (GCT), we analysed 16 individuals from four families by array comparative genomic hybridization (aCGH) and applied an integrative systems biology algorithm that prioritizes risk...... GCT patients and 200 healthy controls. Observed CNV frequencies of 1.9% among cases and 1.5% amongst controls were not significantly different and this was further confirmed by CNV data extracted from a genome-wide analysis of 189 cases and 380 controls, where similar frequencies of 2.2% were observed....... Collectively, the findings show that a heterozygous loss at the RLN1 locus is not a genetic factor mediating high population-wide risk for testicular germ cell tumour, but do not exclude a contribution of this aberration in some cases of cancer. The preliminary expression data suggest a possible role...
Maguire, C N; McCallum, L A; Storey, C; Whitaker, J P
The National DNA Database (NDNAD) of England and Wales was established on April 10th 1995. The NDNAD is governed by a variety of legislative instruments that mean that DNA samples can be taken if an individual is arrested and detained in a police station. The biological samples and the DNA profiles derived from them can be used for purposes related to the prevention and detection of crime, the investigation of an offence and for the conduct of a prosecution. Following the South East Asian Tsunami of December 2004, the legislation was amended to allow the use of the NDNAD to assist in the identification of a deceased person or of a body part where death has occurred from natural causes or from a natural disaster. The UK NDNAD now contains the DNA profiles of approximately 6 million individuals representing 9.6% of the UK population. As the science of DNA profiling advanced, the National DNA Database provided a potential resource for increased intelligence beyond the direct matching for which it was originally created. The familial searching service offered to the police by several UK forensic science providers exploits the size and geographic coverage of the NDNAD and the fact that close relatives of an offender may share a significant proportion of that offender's DNA profile and will often reside in close geographic proximity to him or her. Between 2002 and 2011 Forensic Science Service Ltd. (FSS) provided familial search services to support 188 police investigations, 70 of which are still active cases. This technique, which may be used in serious crime cases or in 'cold case' reviews when there are few or no investigative leads, has led to the identification of 41 perpetrators or suspects. In this paper we discuss the processes, utility, and governance of the familial search service in which the NDNAD is searched for close genetic relatives of an offender who has left DNA evidence at a crime scene, but whose DNA profile is not represented within the NDNAD. We
Huijgen, Roeland; Hutten, Barbara A; Kindt, Iris; Vissers, Maud N; Kastelein, John J P
Screening for familial hypercholesterolemia (FH) within affected families is often based on cutoff values for low-density lipoprotein cholesterol (LDL-C). However, the diagnostic accuracy of LDL-C levels is influenced by the magnitude of the LDL-C overlap between FH patients and unaffected relatives. The purpose of the current study was to assess to what extent this overlap is influenced by the severity of specific FH mutations. Individuals were eligible if they underwent family screening for FH between 2003 and 2010. The entire cohort was then compared with those who were investigated for the presence of the most severe mutations (class 1). The area under the receiver operating characteristics curve and the sensitivity of the 90th percentile of LDL-C were calculated for both cohorts. We included 26 406 individuals, of whom 9169 (35%) carried an FH-causing mutation. In the entire cohort at baseline, mean LDL-C was 4.63 ± 1.44 mmol/L for FH carriers (n=5372) and 2.96 ± 0.96 mmol/L for unaffected relatives (n=15 148); P<0.001. The corresponding operating characteristics curve (95% CI) was 86.6% (85.9%-87.2%), and the cutoff level of LDL-C above the 90th percentile showed a sensitivity of 68.5%. The operating characteristics curve and sensitivity significantly improved when the 5933 individuals tested for class 1 mutations were assessed separately; 96.2% (95.3%-97.1%) and 91.3%, respectively. In summary, the overlap in terms of LDL-C levels between those with molecularly proven FH and unaffected relatives is to a large extent because of the high prevalence of modestly severe LDL-receptor mutations in the Netherlands.
Guo, Wenbin; Liu, Feng; Chen, Jindong; Wu, Renrong; Li, Lehua; Zhang, Zhikun; Chen, Huafu; Zhao, Jingping
Abnormal short-range and long-range functional connectivities (FCs) have been implicated in the neurophysiology of schizophrenia. This study was conducted to examine the potential of short-range and long-range FCs for differentiating the patients from the controls with a family-based case-control design. Twenty-eight first-episode, drug-naive patients with schizophrenia, 28 unaffected siblings of the patients (family-based controls, FBCs), and 40 healthy controls (HCs) underwent resting-state functional magnetic resonance imaging (fMRI) scans. The data were analyzed by short-range and long-range FC analyses, receiver operating characteristic curve (ROC) and support vector machine (SVM). Compared with the FBCs/HCs, the patients exhibit increased short-range positive FC strength (spFCS) and/or long-range positive FC strength (lpFCS) in the default-mode network (DMN) and decreased spFCS and lpFCS in the sensorimotor circuits. Furthermore, a combination of the spFCS values in the right superior parietal lobule and the lpFCS values in the left fusiform gyrus/cerebellum VI can differentiate the patients from the FBCs with high sensitivity and specificity. The findings highlight the importance of the DMN and sensorimotor circuits in the pathogenesis of schizophrenia. Combining with family-based case-control design may be a viable option to limit the confounding effects of environmental risk factors in neuroimaging studies of schizophrenia. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.
Song, Xin; Li, Wen-Qing; Hu, Nan; Zhao, Xue Ke; Wang, Zhaoming; Hyland, Paula L; Jiang, Tao; Kong, Guo Qiang; Su, Hua; Wang, Chaoyu; Wang, Lemin; Sun, Li; Fan, Zong Min; Meng, Hui; Zhang, Tang Juan; Ji, Ling Fen; Hu, Shou Jia; Han, Wei Li; Wu, Min Jie; Zheng, Peng Yuan; Lv, Shuang; Li, Xue Min; Zhou, Fu You; Burdett, Laurie; Ding, Ti; Qiao, You-Lin; Fan, Jin-Hu; Han, Xiao-You; Giffen, Carol; Tucker, Margaret A; Dawsey, Sanford M; Freedman, Neal D; Chanock, Stephen J; Abnet, Christian C; Taylor, Philip R; Wang, Li-Dong; Goldstein, Alisa M
Based on our initial genome-wide association study (GWAS) on esophageal squamous cell carcinoma (ESCC) in Han Chinese, we conducted a follow-up study to examine the single nucleotide polymorphisms (SNPs) associated with family history (FH) of upper gastrointestinal cancer (UGI) cancer in cases with ESCC. We evaluated the association between SNPs and FH of UGI cancer among ESCC cases in a stage-1 case-only analysis of the National Cancer Institute (NCI, 541 cases with FH and 1399 without FH) and Henan GWAS (493 cases with FH and 869 without FH) data (discovery phase). The top SNPs (or their surrogates) from discovery were advanced to a stage-2 evaluation in additional Henan subjects (2801 cases with FH and 3136 without FH, replication phase). A total of 19 SNPs were associated with FH of UGI cancer in ESCC cases with P provide important insights into new low-penetrance susceptibility regions involved in the susceptibility of families with multiple UGI cancer cases.
Fostira, F; Konstantopoulou, I; Mavroudis, D; Tryfonopoulos, D; Yannoukakos, D; Voutsinas, G E
Currently, hereditary breast cancer is being attributed to more than 20 genes of differing penetrance. Although BRCA1 and BRCA2 are still the genes of reference for breast cancer susceptibility, extreme breast cancer phenotypes may be the result of deleterious alleles of other genes. Here, we report three families with early-onset breast cancer that were initially referred for BRCA1/BRCA2 genetic testing. They were diagnosed with breast cancer at an extraordinarily early age. On the basis of their extensive family history, which included multiple cancer types, and their Her2 status, they were suspected for Li-Fraumeni syndrome. Indeed, all three probands were found to harbor TP53 tumor suppressor gene mutations. These included p.C275X, described here for the first time, as well as p.R213X and p.Y220C, which have been described in the past. Our conclusion is that decisions on genetic analysis for inherited early onset breast cancer should always be based on detailed pedigree information, combined with Her2 status. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Jelani, Musharraf; Kang, Changsoo; Mohamoud, Hussein Sheikh Ali; Al-Rehaili, Rayan; Almramhi, Mona Mohammad; Serafi, Rehab; Yang, Huanming; Al-Aama, Jumana Yousuf; Naeem, Muhammad; Alkhiary, Yaser Mohammad
The present study aimed to identify the genetic cause of non-syndromic primary failure of tooth eruption in a five-generation consanguineous Saudi family using whole-exome sequencing (WES) analysis. The family pedigree and phenotype were obtained from patient medical records. WES of all four affected family members was performed using the 51 Mb SureSelect V4 library kit and then sequenced using the Illumina HiSeq2000 sequencing system. Sequence alignment, variant calling, and the annotation of single nucleotide polymorphisms and indels were performed using standard bioinformatics pipelines. The genotype of candidate variants was confirmed in all available family members by Sanger sequencing. Pedigree analysis suggested that the inheritance was autosomal recessive. WES of all affected individuals identified a novel homozygous variant in exon 8 of the parathyroid hormone 1 receptor gene (PTH1R) (NM_000316: c.611T>A: p.Val204Glu). To the best of our knowledge, this is the first report of primary failure of eruption caused by a homozygous mutation in PTH1R. Our findings prove the application of WES as an efficient molecular diagnostics tool for this rare phenotype and further broaden the clinical spectrum of PTH1R pathogenicity. Copyright © 2016 Elsevier Ltd. All rights reserved.
Edsgärd, D; Scheel, M; Hansen, N T
-associated genes among loci targeted by CNVs. The top-ranked candidate, RLN1, encoding a Relaxin-H1 peptide, although only detected in one of the families, was selected for further investigations. Validation of the CNV at the RLN1 locus was performed as an association study using qPCR with 106 sporadic testicular...... GCT patients and 200 healthy controls. Observed CNV frequencies of 1.9% among cases and 1.5% amongst controls were not significantly different and this was further confirmed by CNV data extracted from a genome-wide analysis of 189 cases and 380 controls, where similar frequencies of 2.2% were observed....... Collectively, the findings show that a heterozygous loss at the RLN1 locus is not a genetic factor mediating high population-wide risk for testicular germ cell tumour, but do not exclude a contribution of this aberration in some cases of cancer. The preliminary expression data suggest a possible role...
Skjøt, R L; Oettinger, T; Rosenkrands, I
Culture filtrate from Mycobacterium tuberculosis contains protective antigens of relevance for the generation of a new antituberculosis vaccine. We have identified two previously uncharacterized M. tuberculosis proteins (TB7.3 and TB10.4) from the highly active low-mass fraction of culture filtra...
Lee, J. H.; Cheng, R.; Honig, L. S.
Leukocyte telomere length is believed to measure cellular aging in humans, and short leukocyte telomere length is associated with increased risks of late onset diseases, including cardiovascular disease, dementia, etc. Many studies have shown that leukocyte telomere length is a heritable trait......, and several candidate genes have been identified, including TERT, TERC, OBFC1, and CTC1. Unlike most studies that have focused on genetic causes of chronic diseases such as heart disease and diabetes in relation to leukocyte telomere length, the present study examined the genome to identify variants that may...... contribute to variation in leukocyte telomere length among families with exceptional longevity. From the genome wide association analysis in 4,289 LLFS participants, we identified a novel intergenic SNP rs7680468 located near PAPSS1 and DKK2 on 4q25 (p = 4.7E-8). From our linkage analysis, we identified two...
Edsgard, Stefan Daniel; Scheel, M.; Hansen, Niclas Tue
‐associated genes among loci targeted by CNVs. The top‐ranked candidate, RLN1, encoding a Relaxin‐H1 peptide, although only detected in one of the families, was selected for further investigations. Validation of the CNV at the RLN1 locus was performed as an association study using qPCR with 106 sporadic testicular...... GCT patients and 200 healthy controls. Observed CNV frequencies of 1.9% among cases and 1.5% amongst controls were not significantly different and this was further confirmed by CNV data extracted from a genome‐wide analysis of 189 cases and 380 controls, where similar frequencies of 2.2% were observed...... and spermatids. Collectively, the findings show that a heterozygous loss at the RLN1 locus is not a genetic factor mediating high population‐wide risk for testicular germ cell tumour, but do not exclude a contribution of this aberration in some cases of cancer. The preliminary expression data suggest a possible...
Watson, Rob; Castleden, Heather; Masuda, Jeffrey; King, Malcolm; Stewart, Miriam
Asthma is the most common chronic condition affecting Aboriginal youth aged 8 to 12 years in Canada. Research investigating psychosocial challenges associated with asthma is limited. This study examines support resources, support-seeking strategies, support and education needs, and intervention preferences of Aboriginal youth with asthma and their caregivers in an effort to encourage community-wide, health-promoting behaviors. We employed a community-based participatory research design to conduct interviews with 21 youths aged 8 to 12 years and 17 caregivers from 5 Mi'kmaq communities in Unama'ki (Cape Breton) Nova Scotia, Canada. After conducting interviews that explored existing and desired social, educational, and health support in participating communities, we held a 2-day asthma camp to engage participants in asthma education, social support networking, and cultural activities. At the camp, we collected data through participant observation, sharing circles, focus groups, and youth drawings of their experiences living with asthma. Our study yielded 4 key findings: 1) asthma triggers included household mold, indoor smoking, pets, season change, strenuous exercise, extreme cold, and humidity; 2) social and educational support is lacking in Mi'kmaq communities despite a strong desire for these services; 3) cultural, linguistic, and geographic barriers to accessing support exist; and 4) family members are primary support resources. Improved support and educational resources are needed to foster effective Mi'kmaq asthma support networks. Future asthma interventions for marginalized populations must be culturally meaningful and linguistically accessible to those using and providing asthma support.
Edenir Inêz Palmero
Full Text Available Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA. If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening, respectively, and 7 for CHEK2 1100delC testing. A deleterious BRCA2 mutation was identified in one of the HBOC probands and the CHEK2 1100delC mutation occurred in one of the HBCC families. No deleterious germline alterations were identified in BRCA1 or TP53. Although strict inclusion criteria and a comprehensive testing approach were used, the suspected genetic risk in these families remains unexplained. Further studies in a larger cohort are necessary to better understand the genetic component of hereditary breast cancer in Southern Brazil.
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.
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.
Matzhold, Eva M; Drexler, Camilla; Wagner, Thomas
The presence of ABO subgroup alleles and unusual O alleles often is associated with discrepant serologic findings in ABO blood group typing. In the ABO gene of a Caucasian female and her daughters who had aberrant ABO phenotypes, a novel ABO O allele characterized by a large deletion that included two exons was identified. ABO phenotypes were determined by standard agglutination tests and adsorption-elution studies. Allele-specific sequencing analyses of the ABO gene as well as messenger RNA transcripts were carried out. All three samples showed the same discrepant ABO blood typing results lacking A and B antigens, indicating Blood Group O, whereas anti-A1 and anti-A2 isoagglutinins were not detectable in reverse typing. Analyses of the ABO gene revealed a novel allele characterized by a deletion of 2169 base pairs, including sequences of Intron 1, Exon 2, Intron 2, Exon 3, and Intron 3. Exon 1 was directly joined to Exon 4 in the ABO transcript. Because the novel allele was associated with a well-described O allele, the absence of A-antigens in the inherited ABO subtype phenotype may be due to the identified mutation affecting the transmembrane-spanning domain of the encoded protein and impairing the transferase activity. © 2016 AABB.
Peng, Hui; Zheng, Yunyun; Chen, Maojiao; Wang, Ying; Xiao, Yazhong; Gao, Yi
A novel starch-binding domain (SBD) that represents a new carbohydrate-binding module family (CBM69) was identified in the α-amylase (AmyP) of the recently established alpha-amylase subfamily GH13_37. The SBD and its homologues come mostly from marine bacteria, and phylogenetic analysis indicates that they are closely related to the CBM20 and CBM48 families. The SBD exhibited a binding preference toward raw rice starch, but the truncated mutant (AmyPΔSBD) still retained similar substrate preference. Kinetic analyses revealed that the SBD plays an important role in soluble starch hydrolysis because different catalytic efficiencies have been observed in AmyP and the AmyPΔSBD. Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
Chen, Bisi; Niu, Fangfang; Liu, Wu-Zhen; Yang, Bo; Zhang, Jingxiao; Ma, Jieyu; Cheng, Hao; Han, Feng; Jiang, Yuan-Qing
The R2R3-MYB proteins comprise one of the largest families of transcription factors in plants. Although genome-wide analysis of this family has been carried out in some plant species, little is known about R2R3-MYB genes in canola (Brassica napus L.). In this study, we have identified 76 R2R3-MYB genes in the canola genome through mining of expressed sequence tags (ESTs). The cDNA sequences of 44 MYB genes were successfully cloned. The transcriptional activities of BnaMYB proteins encoded by these genes were assayed in yeast. The subcellular localizations of representative R2R3-MYB proteins were investigated through GFP fusion. Besides, the transcript abundance level analysis during abiotic conditions and ABA treatment identified a group of R2R3-MYB genes that responded to one or more treatments. Furthermore, we identified a previously functionally unknown MYB gene-BnaMYB78, which modulates reactive oxygen species (ROS)-dependent cell death in Nicotiana benthamiana, through regulating the transcription of a few ROS- and defence-related genes. Taken together, this study has provided a solid foundation for understanding the roles and regulatory mechanism of canola R2R3-MYB genes. © The Author 2016. Published by Oxford University Press on behalf of Kazusa DNA Research Institute.
Hane James K
Full Text Available Abstract Background Repeat-induced point mutation (RIP is a fungal genome defence mechanism guarding against transposon invasion. RIP mutates the sequence of repeated DNA and over time renders the affected regions unrecognisable by similarity search tools such as BLAST. Results DeRIP is a new software tool developed to predict the original sequence of a RIP-mutated region prior to the occurrence of RIP. In this study, we apply deRIP to the genome of the wheat pathogen Stagonospora nodorum SN15 and predict the origin of several previously uncharacterised classes of repetitive DNA. Conclusions Five new classes of transposon repeats and four classes of endogenous gene repeats were identified after deRIP. The deRIP process is a new tool for fungal genomics that facilitates the identification and understanding of the role and origin of fungal repetitive DNA. DeRIP is open-source and is available as part of the RIPCAL suite at http://www.sourceforge.net/projects/ripcal.
Sawada, Akihisa; Croom-Carter, Deborah; Kondo, Osamu; Yasui, Masahiro; Koyama-Sato, Maho; Inoue, Masami; Kawa, Keisei; Rickinson, Alan B; Tierney, Rosemary J
Polymorphisms in Epstein-Barr virus (EBV) latent genes can identify virus strains from different human populations and individual strains within a population. An Asian EBV signature has been defined almost exclusively from Chinese viruses, with little information from other Asian countries. Here we sequenced polymorphic regions of the EBNA1, 2, 3A, 3B, 3C and LMP1 genes of 31 Japanese strains from control donors and EBV-associated T/NK-cell lymphoproliferative disease (T/NK-LPD) patients. Though identical to Chinese strains in their dominant EBNA1 and LMP1 alleles, Japanese viruses were subtly different at other loci. Thus, while Chinese viruses mainly fall into two families with strongly linked 'Wu' or 'Li' alleles at EBNA2 and EBNA3A/B/C, Japanese viruses all have the consensus Wu EBNA2 allele but fall into two families at EBNA3A/B/C. One family has variant Li-like sequences at EBNA3A and 3B and the consensus Li sequence at EBNA3C; the other family has variant Wu-like sequences at EBNA3A, variants of a low frequency Chinese allele 'Sp' at EBNA3B and a consensus Sp sequence at EBNA3C. Thus, EBNA3A/B/C allelotypes clearly distinguish Japanese from Chinese strains. Interestingly, most Japanese viruses also lack those immune-escape mutations in the HLA-A11 epitope-encoding region of EBNA3B that are so characteristic of viruses from the highly A11-positive Chinese population. Control donor-derived and T/NK-LPD-derived strains were similarly distributed across allelotypes and, by using allelic polymorphisms to track virus strains in patients pre- and post-haematopoietic stem-cell transplant, we show that a single strain can induce both T/NK-LPD and B-cell-lymphoproliferative disease in the same patient.
Engvall, Karin; Hult, M; Corner, R; Lampa, E; Norbäck, D; Emenius, G
The aim was to develop a new model to identify residential buildings with higher frequencies of "SBS" than expected, "risk buildings". In 2005, 481 multi-family buildings with 10,506 dwellings in Stockholm were studied by a new stratified random sampling. A standardised self-administered questionnaire was used to assess "SBS", atopy and personal factors. The response rate was 73%. Statistical analysis was performed by multiple logistic regressions. Dwellers owning their building reported less "SBS" than those renting. There was a strong relationship between socio-economic factors and ownership. The regression model, ended up with high explanatory values for age, gender, atopy and ownership. Applying our model, 9% of all residential buildings in Stockholm were classified as "risk buildings" with the highest proportion in houses built 1961-1975 (26%) and lowest in houses built 1985-1990 (4%). To identify "risk buildings", it is necessary to adjust for ownership and population characteristics.
Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William
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...
Aoude, Lauren G; Wadt, Karin A W; Pritchard, Antonia L
Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however...
The multiracial population is one of the fastest growing segments of the U. S. population. In discussing the multiracial population it is first important to identify and define the groups that are under the heading of multiracial. The literature has included interracial couples, multiracial individuals, and families in which a cross-racial or…
Joseph H Lee
Full Text Available Leukocyte telomere length is believed to measure cellular aging in humans, and short leukocyte telomere length is associated with increased risks of late onset diseases, including cardiovascular disease, dementia, etc. Many studies have shown that leukocyte telomere length is a heritable trait, and several candidate genes have been identified, including TERT, TERC, OBFC1, and CTC1. Unlike most studies that have focused on genetic causes of chronic diseases such as heart disease and diabetes in relation to leukocyte telomere length, the present study examined the genome to identify variants that may contribute to variation in leukocyte telomere length among families with exceptional longevity. From the genome wide association analysis in 4,289 LLFS participants, we identified a novel intergenic SNP rs7680468 located near PAPSS1 and DKK2 on 4q25 (p=4.7E-8. From our linkage analysis, we identified two additional loci with HLOD scores exceeding three, including 4.77 for 17q23.2 and 4.36 for 10q11.21. These two loci harbor a number of novel candidate genes with SNPs, and our gene-wise association analysis identified multiple genes, including DCAF7, POLG2, CEP95, and SMURF2 at 17q23.2; and RASGEF1A, HNRNPF, ANF487, CSTF2T, and PRKG1 at 10q11.21. Among these genes, multiple SNPs were associated with leukocyte telomere length, but the strongest association was observed with one contiguous haplotype in CEP95 and SMURF2. We also show that three previously reported genes – TERC, MYNN, and OBFC1 – were significantly associated with leukocyte telomere length at pempirical smaller than 0.05.
Robust and Comprehensive Analysis of 20 Osteoporosis Candidate Genes by Very High-Density Single-Nucleotide Polymorphism Screen Among 405 White Nuclear Families Identified Significant Association and Gene–Gene Interaction
Xiong, Dong-Hai; Shen, Hui; Zhao, Lan-Juan; Xiao, Peng; Yang, Tie-Lin; Guo, Yan; Wang, Wei; Guo, Yan-Fang; Liu, Yong-Jun; Recker, Robert R; Deng, Hong-Wen
Many “novel” osteoporosis candidate genes have been proposed in recent years. To advance our knowledge of their roles in osteoporosis, we screened 20 such genes using a set of high-density SNPs in a large family-based study. Our efforts led to the prioritization of those osteoporosis genes and the detection of gene–gene interactions. Introduction We performed large-scale family-based association analyses of 20 novel osteoporosis candidate genes using 277 single nucleotide polymorphisms (SNPs) for the quantitative trait BMD variation and the qualitative trait osteoporosis (OP) at three clinically important skeletal sites: spine, hip, and ultradistal radius (UD). Materials and Methods One thousand eight hundred seventy-three subjects from 405 white nuclear families were genotyped and analyzed with an average density of one SNP per 4 kb across the 20 genes. We conducted association analyses by SNP- and haplotype-based family-based association test (FBAT) and performed gene–gene interaction analyses using multianalytic approaches such as multifactor-dimensionality reduction (MDR) and conditional logistic regression. Results and Conclusions We detected four genes (DBP, LRP5, CYP17, and RANK) that showed highly suggestive associations (10,000-permutation derived empirical global p ≤ 0.01) with spine BMD/OP; four genes (CYP19, RANK, RANKL, and CYP17) highly suggestive for hip BMD/OP; and four genes (CYP19, BMP2, RANK, and TNFR2) highly suggestive for UD BMD/OP. The associations between BMP2 with UD BMD and those between RANK with OP at the spine, hip, and UD also met the experiment-wide stringent criterion (empirical global p ≤ 0.0007). Sex-stratified analyses further showed that some of the significant associations in the total sample were driven by either male or female subjects. In addition, we identified and validated a two-locus gene–gene interaction model involving GCR and ESR2, for which prior biological evidence exists. Our results suggested the
Park, Ji Sook; Ko, Jae Sung; Seo, Jeong Kee; Moon, Jin Soo; Park, Sung Sup
AIM: To investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others. METHODS: Of 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood. RESULTS: Living donor-liver transplantation was performed in four patients because of rapidly progressive hepatic failure and hepatocellular carcinoma. Three missense mutations were found in two patients: compound heterozygous 677C>T (S226L)/3007G>A (G1003R) and heterozygous 2296G>A (G766R). The mutations were located near and in the transmembranous space. CONCLUSION: Alterations in the transmembrane of the bile salt export pump in the Korean infants were different from those previously reported in Chinese, Japanease, Taiwanese, and European patients. PMID:27239116
Full Text Available A FRET-based random screening assay was used to generate hit compounds as sortase A inhibitors that allowed us to identify ethyl 3-oxo-2-(2-phenylhydrazinylidenebutanoate as an example of a new class of sortase A inhibitors. Other analogues were generated by changing the ethoxycarbonyl function for a carboxy, cyano or amide group, or introducing substituents in the phenyl ring of the ester and acid derivatives. The most active derivative found was 3-oxo-2-(2-(3,4dichlorophenylhydrazinylidenebutanoic acid (2b, showing an IC50 value of 50 µM. For a preliminary assessment of their antivirulence properties the new derivatives were tested for their antibiofilm activity. The most active compound resulted 2a, which showed inhibition of about 60% against S. aureus ATCC 29213, S. aureus ATCC 25923, S. aureus ATCC 6538 and S. epidermidis RP62A at a screening concentration of 100 µM.
Abellan van Kan, Gabor; Houles, Mathieu; Vellas, Bruno
The present review describes and discusses the currently available definitions for sarcopenia from consensus studies. Different sarcopenia definitions have been proposed in these last years. Six main approaches to an operative definition of sarcopenia have been identified. Although the first definitions were solely based on the assessment of the amount of muscle mass, current definitions seem to consistently recognize a bi-dimensional nature of sarcopenia. So, these approaches imply the need of simultaneously assessing both age-related quantitative (i.e. amount of muscle mass) and qualitative (i.e. muscle strength and function) declines of skeletal muscle. Although current consensus exists about a bi-dimensional nature, the proposed approaches to measure sarcopenia are characterized by methodological differences. The majority of the operative definitions proposes to assess muscle mass as an index of appendicular muscle mass divided by squared height (evaluated by dual energy X-ray absorptiometry), assess strength using hand-held dynamometers, and assess function by evaluating gait speed at habitual pace over a short distance. Nevertheless, the clinically relevant thresholds and how to combine the three aspects in an operative definition in order to identify sarcopenia are heterogeneous. A main drawback is that supportive empirical data are missing for these conceptual definitions regarding the risk-assessment of different clinically significant adverse outcomes.
Ma, Joyce L. C.; Wong, Timothy K. Y.; Lau, Luk King; Pun, Shuk Han
This article reports the results of a telephone survey (n = 1,015 respondents) that aims to identify the perceived general family functioning and family resources of Hong Kong Chinese families and their linkage to each other in a rapidly transforming society. The perceived general family functioning of the respondents was average, and the five…
... and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the ...
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 ...
... 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 ...
... relating to each other Set individual and family goals and work on ways to achieve them Results Family therapy doesn't automatically solve family conflicts or make an unpleasant situation go away. But ...
Yuen, Cynthia X; Fuligni, Andrew J; Gonzales, Nancy; Telzer, Eva H
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.
Landsman, Miriam J; Boel-Studt, Sharma
Recent federal legislation strengthens children's and families' rights to family-centered practice by increasing the responsibility of child welfare agencies to identify and engage extended family members in providing care and support to children placed out of the home. Preliminary results from an experimental study of a federally funded family finding project found greater involvement of family, kin, and informal supports and a higher likelihood of reunification or relative placement compared with standard child welfare services.
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.
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
... Related Topics: Asbestos Contact Us Share Protect Your Family How to Identify Materials That May Contain Asbestos ... Improper removal may actually increase your and your family’s exposure to asbestos fibers. Top of Page Asbestos ...
Seita, John R.
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…
Breunlin, Douglas C; Jacobsen, Elizabeth
In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT. © 2014 FPI, Inc.
Kao, Tsui-Sui A; Caldwell, Cleopatra H
Family efficacy, which refers to a family's belief in its ability to produce a desired outcome, has been shown to protect adolescents from risky health behaviors. Few studies have examined family efficacy within diverse populations, however, and understanding of how efficacy is framed and formed within the context of cultural and familial values is limited. This descriptive qualitative study examined sources of family efficacy within ethnically and socioeconomically diverse families, evaluating how such families develop and exercise family efficacy with the intent to protect adolescents from risky health behaviors (i.e., marijuana and alcohol use and early sexual activity). We collected qualitative data via two semi-structured interviews, 4-6 months apart, with 31 adolescents (ages 12-14) and their parent/s, for total of 148 one-on-one interviews. Thematic analysis identified three distinct domains of family efficacy: relational, pragmatic, and value-laden. Prior experiences and cultural background influenced the domain/s utilized by families. Significantly, families that consistently tapped into all three domains were able to effectively manage personal and family difficulties; these families also had family strategies in place to prevent adolescents from risky behaviors. Health professionals could utilize this concept of multidimensional family efficacy to promote health within culturally diverse families. © 2015 Family Process Institute.
Meadows, Sarah O.; Beckett, Megan K.; Bowling, Kirby; Golinelli, Daniela; Fisher, Michael P.; Martin, Laurie T.; Meredith, Lisa S.; Osilla, Karen Chan
Abstract Military life presents a variety of challenges to military families, including frequent separations and relocations as well as the risks that service members face during deployment; however, many families successfully navigate these challenges. Despite a recent emphasis on family resilience, the U.S. Department of Defense (DoD) does not have a standard and universally accepted definition of family resilience. A standard definition is a necessary for DoD to more effectively assess its efforts to sustain and improve family resilience. RAND authors reviewed the literature on family resilience and, in this study, recommend a definition that could be used DoD-wide. The authors also reviewed DoD policies related to family resilience, reviewed models that describe family resilience and identified key family resilience factors, and developed several recommendations for how family-resilience programs and policies could be managed across DoD. PMID:28083409
... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Donate Home What is Autism? What is Autism? ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Family Issues Home / Living with Autism / Family Issues ...
... relationship. Different families have different communication and coping styles. Consider how your family reacts in a crisis ... Learn more about how to get support for parenting while living with cancer . The importance of communication ...
Wouter W. de Herder
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.
W.W. de Herder (Wouter)
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.
A qualitative approach using the integrative model of behaviour change to identify intervention strategies to increase optimal child restraint practices among culturally and linguistically diverse families in New South Wales.
Brown, Julie; Burton, Danielle; Nikolin, Stevan; Crooks, Philippa Jane; Hatfield, Julie; Bilston, Lynne E
To qualitatively explore barriers to optimal child restraint use using the integrative behaviour change model in culturally and linguistically diverse (CALD) communities in New South Wales (NSW), Australia. A semi-structured discussion was used to conduct 11 language specific focus groups in Arabic, Assyrian, Cantonese, Mandarin, Vietnamese and Turkish. Translated transcriptions were analysed using the major concepts of the integrative behaviour change model. Restraint use intent among CALD community carers is related to perceived safety of their children and complying with the law. While most participants appreciated the safety benefits of correct and appropriate use, a minority did not. Child restraint legislation may positively influence social norms, and enforcement appears to increase parental self-efficacy. However, concerns over child comfort may negatively influence both norms and self-efficacy. There are clear deficits in knowledge that may act as barriers as well as confusion over best practice in safely transporting children. Large family size, vehicle size and cost appear to be real environmental constraints in CALD communities. Determinants of intent and deficits in knowledge in this diverse range of CALD communities in NSW Australia are similar to those reported in other qualitative studies regardless of the population studied. This indicates that key messages should be the same regardless of the target population. However, for CALD communities there is a specific need to ensure access to detailed information through appropriate delivery strategies and languages. Furthermore, practical constraints such as cost of restraints and family size may be particularly important in CALD communities.
The key role that the family plays in many different aspects of life in Africa is examined. Three main spheres of influence are identified: demographic aspects, economic aspects, and social control. In the demographic area, the author notes that the family influences marriage practices, family size desires, child health, and migration decisions. (SUMMARY IN ENG)
Miguel Alberto Ramírez Villaseñor
Full Text Available The present study is an analysis of twelve family structure variables in a sample of 250 under-age offenders' families. All families had been remitted to the Parents Group at the Behavioral Control Clinic between February and September, 1988, charged with theft and/or drug abuse. There are certain factors in those families ( such as immigration, the attributed value of the identified patient, his adolescent stage, the presence of extensive family members and a dead brother that seem to decide the symptomatology even more than other frequently mentioned variables (i.e., parents civil status, separations, divorces, new marriages, mother's occupation. The detected family structure seems to show a very close link between mother and identified patient that displaces the father to the system's periphery. We consider that this form of family structure leads to situations such as single mothers or promiscuous daughters who show similar symptoms to those shown in the identified patient.
Jensen, Lotte Groth; Lou, Stina; Aagaard, Jørgen
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......: 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......: The volunteer involvement is meaningful but also challenging. The families value professional support....
Pay More Attention: a national mixed methods study to identify the barriers and facilitators to ensuring equal access to high-quality hospital care and services for children and young people with and without learning disabilities and their families.
Oulton, Kate; Wray, Jo; Carr, Lucinda; Hassiotis, Angela; Jewitt, Carey; Kerry, Sam; Tuffrey-Wijne, Irene; Gibson, Faith
Despite evidence of health inequalities for adults with intellectual disability (ID) there has yet to be a comprehensive review of how well hospital services are meeting the needs of children and young people (CYP) with ID and their families. We do not know how relevant existing recommendations and guidelines are to CYP, whether these are being applied in the paediatric setting or what difference they are making. Evidence of parental dissatisfaction with the quality, safety and accessibility of hospital care for CYP with ID exists. However, the extent to which their experience differs from parents of CYP without ID is not known and the views and experiences of CYP with ID have not been investigated. We will compare how services are delivered to, and experienced by CYP aged 5-15 years with and without ID and their families to see what inequalities exist, for whom, why and under what circumstances. We will use a transformative, mixed methods case study design to collect data over four consecutive phases. We will involve CYP, parents and hospital staff using a range of methods; interviews, parental electronic diary, hospital and community staff questionnaire, patient and parent satisfaction questionnaire, content analysis of hospital documents and a retrospective mapping of patient hospital activity. Qualitative data will be managed and analysed using NVivo and quantitative data will be analysed using parametric and non-parametric descriptive statistics. The study will run from December 2015 to November 2018. We have Health Authority Approval (IRAS project ID: 193932) for phase 1 involving staff only and ethical and Health Authority Approval for phases 2-4 (IRAS project ID: 178525). We will disseminate widely to relevant stakeholders, using a range of accessible formats, including social media. We will publish in international peer-reviewed journals and present to professional, academic and lay audiences through national and international conferences. Published by
Cao, Michelle; Guilleminault, Christian
Studies on families with sleepwalking are uncommonly published but can give further information on the phenotype of patients with chronic sleepwalking. Out of 51 individuals referred for chronic sleepwalking during a 5-year period, we obtained sufficient information on 7 families with direct relatives who reported sleepwalking with or without sleep terrors. Among 70 living direct family members, we obtained questionnaire responses from 50 subjects and identified 34 cases with a history of sleepwalking. Of the 50 subjects, 16 completed only questionnaires, while all the others also completed a clinical evaluation and nocturnal sleep recordings. There was a positive history of sleepwalking on either the paternal or maternal side of the family over several generations in our 7 families. Thirty-three clinically evaluated subjects had evidence of sleep-disordered breathing (SDB), with associated craniofacial risk factors for SDB (particularly maxillary and/or mandibular deficiencies). There was a complete overlap with the report of parasomnias and the presence of SDB. In cases with current sleepwalking, treatment of SDB coincided with clear improvement of the parasomnia. All of our subjects with parasomnias presented with familial traits considered as risk factors for SDB. These anatomical risk factors are present at birth and even subtle SDB can lead to sleep disruption and instability of NREM sleep. The question raised is: are factors leading to chronic sleep disruption the familial traits responsible for familial sleepwalking? Copyright 2010 Elsevier B.V. All rights reserved.
Coyle, James P.; Nochajski, Thomas; Maguin, Eugene; Safyer, Andrew; DeWit, David; Macdonald, Scott
Resilient families are able to adapt to adversities, but the nature of family resilience is not well understood. This study examines patterns of family functioning that may protect families from the negative impact of alcohol abuse. Naturally occurring patterns of family functioning are identified and associations between these patterns and…
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....
Kim, Heejung; Rose, Karen M
To report a concept analysis of family homeostasis. As family members are a majority of informal caregivers, negative consequences from caregiving duty create a vicious cycle in the family unit resulting in ongoing health crises and care challenges. Concept analysis. Forty empirical studies published from 1956-2012 were selected by searching five electronic bibliographical databases and by a manual search conducted from 2012-2013. Search terms included 'family homeostasis', 'homeostasis in family', 'homeostatic care' and 'family equilibrium'. Clinical experiences in nursing practice were used for constructing cases and clinical implications. Walker and Avant's method guided this analysis. Family homeostasis is defined as the capacity and mechanisms by which equilibrium is re-established in the family after a change occurs. Five critical attributes are identified: (1) predetermined setpoint; (2) self-appraised antecedents; (3) interdependence; (4) tendency to stability; and (5) feedback mechanisms. Antecedents include any type of causative change beyond the tolerable limit, while consequences encompass intermediate and long-term outcomes as well as equilibrium itself. Family homeostasis provides a conceptual rationale of family caregiving. While care recipients remain the primary beneficiaries of healthcare provision, homeostatic mechanisms are required to support the family caregiver's valuable contribution in the caring process to enhance family well-being. Further study should expand the definition and settings of family to reflect healthcare needs of diverse types of families and from the perspectives of different healthcare providers. © 2014 John Wiley & Sons Ltd.
Yeğen, Hale Nur; Çetin, Merve
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
Reunifying children placed in foster care with their birth parents is a primary goal of the child welfare system. Yet, relatively little is known about the reunification process. This article analyzes new data on trends in family reunification and discovers: (1) Although most children still exit foster care through family reunification, exit…
Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these families is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question
Bowen, Deborah J; Albrecht, Terrance; Hay, Jennifer; Eggly, Susan; Harris-Wei, Julie; Meischke, Hendrika; Burke, Wylie
Interventions to improve communication among family members may facilitate information flow about familial risk and preventive health behaviors. This is a secondary analysis of the effects of an interactive website intervention aimed at increasing communication frequency and agreement about health risk among melanoma families. Participants were family units, consisting of one family member with melanoma identified from a previous research study (the case) and an additional first degree relative and a parent of a child 0–17. Family triads were randomized to receive access to the website intervention or to serve as control families. Family communication frequency and agreement about melanoma prevention behaviors and beliefs were measured at baseline and again at one year post randomization. Intervention participants of all three types significantly increased the frequency of communication to their first degree relatives (Parents, siblings, children; range =14–18 percentage points; all pcommunication about cancer risk. PMID:28248624
Shippee, Tetyana P; Henning-Smith, Carrie; Gaugler, Joseph E; Held, Robert; Kane, Robert L
This article explores the factor structure of a new family satisfaction with nursing home care instrument and determines the relationship of resident quality of life (QOL) and facility characteristics with family satisfaction. Data sources include (1) family satisfaction interviews ( n = 16,790 family members), (2) multidimensional survey of resident QOL ( n = 13,433 residents), and (3) facility characteristics ( n = 376 facilities). We used factor analysis to identify domains of family satisfaction and multivariate analyses to identify the role of facility-level characteristics and resident QOL on facility-mean values of family satisfaction. Four distinct domains were identified for family satisfaction: "care," "staff," "environment," and "food." Chain affiliation, higher resident acuity, more deficiencies, and large size were all associated with less family satisfaction, and resident QOL was a significant (albeit weak) predictor of family satisfaction. Results suggest that family member satisfaction is distinct from resident QOL but is associated with resident QOL and facility characteristics.
... attention and educational advantages, which generally raise her self-esteem. Children in small families, especially first and only ... be for you both to accept the increasing definition of personality that needs to occur as she ...
María Ángela Mattar Yunes
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
Bischof, Gary Paul
Literature on families of adolescent sexual offenders is sparse. Adolescents' perception of family structure, family adaptability and cohesion, parent-child communication, and family communication about sexuality are considered in an effort to identify family characteristics that distinguish families of adolescent sex offenders (n=39) from violent juvenile delinquents (n=25), non-violent juvenile delinquents (n=41), and from non-problem families (normative data). Families of sex offende...
Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M
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.
Amerikaner, Martin J.; Omizo, Michael M.
The parents of 90 children (30 each of learning disabled, emotionally disturbed, and normal children five-14 years old) completed The Family Adaptability and Cohesion Evaluation Scales. Results provided partial support for the hypotheses on family interaction with implications for assessing and intervening in problems identified as learning…
Skelton, JA; Buehler, C; Irby, MB; Grzywacz, JG
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
Butler, Dennis J; Brocato, Joseph; Yeazel, Mark
All family medicine programs are required to provide specialty-specific didactic conferences for residents. Since a baseline study of family medicine didactic formats was published in 2000, training requirements have changed, core content has evolved, and new teaching strategies have been recommended. The present study examines the characteristics of current family medicine didactics, compares current and past conference format data, and identifies factors affecting content selection. The survey used in the prior conference formats study was distributed to all US family medicine programs. All questions from the original survey were repeated, and items regarding factors affecting conference content and threats to conferences were added. The survey response rate was 66%. The majority of family medicine programs endorse block formats for structuring conferences. Compared to the original study, programs are devoting significantly more hours to didactics on fewer days. Family medicine faculty and residents are responsible for 70% of didactic offerings (also a significant shift), and 87% of programs use a core curriculum. In over 70% of programs, some residents are unavailable for conferences due to work restrictions or service demands. The Accreditation Council for Graduate Medical Education subcompetencies and Milestones have only a moderate impact on topic selection. Family medicine didactics have evolved in the past 15 years with a notable increase in reliance upon core faculty and residents to lead conferences. Reduced availability of residents prevents all residents from having full exposure to the didactic curriculum. Family medicine faculty who are taking greater responsibility for didactics are also faced with increased clinical and administrative duties.
Full Text Available Research in child and adult literacy demonstrates that the achievement and the level of literacy that children attain at school is connected with the social and cultural characteristics and the level of literacy of the child's family. This intergenerational transfer of the level of literacy has motivated the search for different ways of improving the level of literacy.The concept of family literacy is based on the assumption that a higher level of parent literacy means that the children may achieve the same, and it also offers better schooling prospects. Family literacy programmes help families to develop different activities, including reading and writing skills, both in their community and in everyday life.
Nissen, Kathrine Grovn; Trevino, Kelly; Lange, Theis
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...... 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...... of quality of life and perceived social support in comparison to supportive family types. CONCLUSIONS: 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...
Amato, N.; Maldonado, R.H.C.
The study on phenomena in the super high energy region, Σ E j > 1000 TeV revealed events that present a big dark spot in central region with high concentration of energy and particles, called halo. Six super families with halo were analysed by Brazil-Japan Cooperation of Cosmic Rays. For each family the lateral distribution of energy density was constructed and R c Σ E (R c ) was estimated. For studying primary composition, the energy correlation with particles released separately in hadrons and gamma rays was analysed. (M.C.K.)
age-appropriate reproductive health information to young people. This is partly due to their discomfort in discussing the subjects of sex or reproduction or to the erroneous view that providing any information on these topics will encourage increased sexual activity (Karim et al., 2003). Because of such factors, many young ...
Hudson, Kathy L.; Collins, Francis S.
Kathy L. Hudson and Francis S. Collins discuss how and why the US National Institutes of Health worked with the family of Henrietta Lacks, the unwitting source of the HeLa cell line, to craft an agreement for access to HeLa genome data. PMID:23925224
Araoz, Daniel L.; Negley-Parker, Esther
A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)
Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....
Filser, Matthias; Brem, Alexander; Gast, Johanna
, organizational culture and behaviour, resources, and innovation and strategy. Second, based on a thorough literature review the major research avenues are reflected. The comparison of the results of both analyses showed the following areas for future research on family firm innovation: members‘ individual human......Over the past decade, research on innovation in family firms has received growing attention by scholars and practitioners around the globe with a wide range of aspects explored within the current body of literature. Despite the constantly growing number of scientific publications, research lacks...... a comprehensive and critical review of past and present research achievements. First, conducting a bibliometric analysis with a focus on innovation in family firms, we identify five topical clusters that help to understand the foundations of recent findings: namely ownership and governance, structural settings...
Apoio social à família do paciente com câncer: identificando caminhos e direções Apoyo social a la familia del paciente con cáncer: identificando caminos y cursos Social support to the family of the cancer patient: identifying ways and directions
Keila de Oliveira Lisboa Sanchez
Full Text Available Rede e apoio social são recursos que enfermeiros podem oferecer às famílias. Esta revisão identifica que aspectos estão sendo pesquisados sobre apoio social à família do doente com câncer. Localizaram-se 51 artigos, sendo 70% de metodologia quantitativa e 26% publicados nos dois últimos anos. Os temas abordados foram: Cuidador familiar como provedor de apoio social; Fatores que interferem no apoio social; Religiosidade como apoio social e o apoio social proveniente de programas educativos, atividades grupais e recursos tecnológicos. Dos artigos, 49% foram escritos por enfermeiros, sendo a ênfase internacional para avaliação das necessidades, experiências das famílias e apoios oferecidos, enquanto que os artigos nacionais enfatizavam a definição de conceitos e identificação das necessidades das famílias visando ao planejamento de intervenções.Rede y apoyo social son recursos que la enfermería puede ofrecer para las familias. Esta revisión identifica que aspectos están siendo pesquisados sobre el apoyo social a la familia del enfermo con cáncer. Se ha localizado 51 artículos siendo 70% de los trabajos fue para pesquisa cuantitativa y 26% fueron publicados en los dos últimos años. Los temas abordados: Los cuidadores familiares como proveedor de apoyo social; Factores que interfieren en el apoyo social; Religiosidad como apoyo social y apoyo social de los programas educativos, actividades grupales y recursos tecnológicos. De los artículos, 49% fueron escritos por las enfermeras, la atención internacional para la evaluación de las necesidades, experiencias de la familia y ofreció su apoyo, mientras que los artículos nacionales hacen hincapié en la definición de los conceptos y la identificación de las necesidades de las familias a la planificación de las intervenciones.Network and social support are resources that nursing can offer to families. This review identifies which aspects of social support are being
Grangeon, Romain; Zupan, John R; Anderson-Furgeson, James; Zambryski, Patricia C
Agrobacterium tumefaciens elongates by addition of peptidoglycan (PG) only at the pole created by cell division, the growth pole, whereas the opposite pole, the old pole, is inactive for PG synthesis. How Agrobacterium assigns and maintains pole asymmetry is not understood. Here, we investigated whether polar growth is correlated with novel pole-specific localization of proteins implicated in a variety of growth and cell division pathways. The cell cycle of A. tumefaciens was monitored by time-lapse and superresolution microscopy to image the localization of A. tumefaciens homologs of proteins involved in cell division, PG synthesis and pole identity. FtsZ and FtsA accumulate at the growth pole during elongation, and improved imaging reveals FtsZ disappears from the growth pole and accumulates at the midcell before FtsA. The L,D-transpeptidase Atu0845 was detected mainly at the growth pole. A. tumefaciens specific pole-organizing protein (Pop) PopZAt and polar organelle development (Pod) protein PodJAt exhibited dynamic yet distinct behavior. PopZAt was found exclusively at the growing pole and quickly switches to the new growth poles of both siblings immediately after septation. PodJAt is initially at the old pole but then also accumulates at the growth pole as the cell cycle progresses suggesting that PodJAt may mediate the transition of the growth pole to an old pole. Thus, PopZAt is a marker for growth pole identity, whereas PodJAt identifies the old pole.
Søndergaard, Kathrine Lærke; Almli, Line Floan
In this paper we examine what characterizes family firms’ decisions when it comes to having a family member being the CEO or the chairman of the board of the company. We define this as family management, which is the dependent variable in our research. This variable has four non-ordered mutually exclusive values; family CEO, family chairman of the board, family CEO and family chairman of the board, and neither family CEO nor family chairman of the board. Using data from the Center for Corpora...
Full Text Available Vitamin E was recently shown to improve hepatic histology in a randomized controlled trial of pioglitazone or vitamin E for nonalcoholic steatohepatitis (PIVENS. The current study utilized samples collected in the PIVENS trial to identify: (1 baseline metabolomic profiles that could identify who would respond to vitamin E treatment and (2 end of treatment metabolomic profiles reflective of histologic improvement. A comprehensive analysis of metabolomics profiles (n = 547 quantified by mass spectrometry was performed in vitamin E responders (n = 16, vitamin E non-responders (n = 15, and placebo responders (n = 15. At baseline, phenyl-propionic acid (Odds ratio: 29.4, p<0.01, indole-propionic acid levels (Odds ratio: 16.2, p<0.01 were directly associated with a subsequent histologic response to vitamin E treatment whereas γ-carboxyethylhydroxychroman (CEHC levels were inversely related to histologic response. Adjusting for baseline values by analysis of covariance, the end of treatment levels of gamma-glutamyl leucine (Fold change: 0.82, p<0.02 and gamma-glutamyl valine (Fold change: 0.8, p<0.03 were significantly lower in vitamin E responders compared to non-responders. The levels of gamma-glutamyl transpeptidase were not significantly different across the two groups. Subjects receiving placebo who demonstrated a histologic improvement also demonstrated lower levels of gamma-glutamylated amino acids (leucine, valine and isoleucine compared to vitamin E non-responders. These data provide exploratory proof that there are measurable differences in the metabolic profile of subjects who are likely (vs unlikely to respond to vitamin E treatment for NASH and in those experiencing histologic improvement (vs no improvement on treatment and support further studies to validate these biomarkers.
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.
Kim, Joyce; Mammo, Danny; Siegel, Marni B; Katsanis, Sara H
In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS) database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforcement agencies a powerful tool for developing investigative leads, apprehending criminals, revitalizing cold cases and exonerating wrongfully convicted individuals. As familial searching involves a range of logistical, social, ethical and legal considerations, states are now grappling with policy options for implementing familial searching to balance crime fighting with its potential impact on society. When developing policies for familial searching, legislators should take into account the impact of familial searching on select populations and the need to minimize personal intrusion on relatives of individuals in the DNA database. This review describes the approaches used to narrow a suspect pool from a partial match search of CODIS and summarizes the economic, ethical, logistical and political challenges of implementing familial searching. We examine particular US state policies and the policy options adopted to address these issues. The aim of this review is to provide objective background information on the controversial approach of familial searching to inform policy decisions in this area. Herein we highlight key policy options and recommendations regarding effective utilization of familial searching that minimize harm to and afford maximum protection of US citizens.
Hohashi, Naohiro; Honda, Junko
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.
Josephson, Allan M
For many, family therapy refers to sessions in which all family members are present. Yet in contemporary psychiatry there are many ways to work with families in addition to this classic concept. This article proposes family intervention as an encompassing term for a new family paradigm in child and adolescent psychiatry. Developmental psychopathology is a guiding principle of this paradigm. A full range of ways to work with families clinically is described with clinical examples. Copyright © 2015 Elsevier Inc. All rights reserved.
Drago, Matthew J; Aronson, Paul L; Madrigal, Vanessa; Yau, Jennifer; Morrison, Wynne
The objective of this study was to identify if family characteristics or opinions affected participation in family centered rounds. Observational study of 431 patient encounters on daily work rounds, followed by 100 questionnaires completed by family members of patients in the unit during observation. PICU at a tertiary care, academic, free-standing children's hospital. Patients and families admitted to the PICU during the observation period. None. The most frequent family members present for rounds were mothers (40%). Race, educational level, age of the family member, age of the child, whether the admission was expected, and whether the family member was a medical professional had no association with whether the family member attended rounds. Both family members who were present and those who were not present felt being at rounds would improve the care of their child (87% vs. 100%, p = 0.57). A family's response that they preferred to attend rounds was the only factor associated with a higher likelihood of attending rounds (odds ratio 3.4, 95% confidence interval 1.1-10.8, p = 0.03). Families feel that participating in family centered rounds improves the care of their children. Those that like attending rounds are more likely to participate in family centered rounds, but family demographic characteristics were not associated with rounds attendance. Future studies are needed to identify barriers to family participation in family centered rounds.
Riedel, Brandalyn C; Ducharme, Jamie K; Geldmacher, David S
Objective. To understand who dementia patients identify as their family and how dementia affects family life. Background. Dementia care is often delivered in family settings, so understanding the constituency and needs of the family unit involved in care is important for determining contributors to family quality of life. Design/Methods. Seventy-seven families receiving care at an academic dementia clinic completed questionnaires regarding the affected person and the family. Responses were categorized as focused on an individual's needs or the family's needs. Results. Respondents identified a mean of 3.77 family members involved in care. Spouse (80.5%), daughter (58.4%), son (46.8%), and stepchild or child-in-law (37.7%) were the most frequently listed family members. Questions regarding the effect of dementia-related changes in cognition and mood were most likely to elicit a family-focused response. Questionnaire items that inquired about specific medical questions and strategies to improve family function were least likely to elicit a family-focused response. Conclusions. Both caregivers and persons with dementia frequently provided family-focused responses, supporting the construct of dementia as an illness that affects life in the family unit. This finding reinforces the potential utility of family-centered quality of life measures in assessing treatment success for people with dementia.
As business processes and information transactions have become an inextricably intertwined with the Web, the importance of assignment, registration, discovery, and maintenance of identifiers has increased. In spite of this, integrated frameworks for managing identifiers have been slow to emerge. Instead, identification systems arise (quite naturally) from immediate business needs without consideration for how they fit into larger information architectures. In addition, many legacy identifier systems further complicate the landscape, making it difficult for content managers to select and deploy identifier systems that meet both the business case and long term information management objectives. This presentation will outline a model for evaluating identifier applications and the functional requirements of the systems necessary to support them. The model is based on a layered analysis of the characteristics of identifier systems, including: * Functional characteristics * Technology * Policy * Business * Social T...
The problem of identifiability is basic to all statistical methods and data analysis, occurring in such diverse areas as Reliability Theory, Survival Analysis, and Econometrics, where stochastic modeling is widely used. Mathematics dealing with identifiability per se is closely related to the so-called branch of ""characterization problems"" in Probability Theory. This book brings together relevant material on identifiability as it occurs in these diverse fields.
de Haan, Monique
This paper investigates the effect of family size and birth order on educational attainment. An instrumental variables approach is used to identify the effect of family size. Instruments for the number of children are twins at last birth and the sex mix of the first two children. The effect of birth order is identified, by examining the relation…
Hansen, Jakob Møller; Hauge, Anne Werner; Ashina, Messoud
The aim was to identify and describe migraine trigger factors in patients with familial hemiplegic migraine (FHM) from a population-based sample.......The aim was to identify and describe migraine trigger factors in patients with familial hemiplegic migraine (FHM) from a population-based sample....
Rajasekharan, Sathyanath; Kennedy, Timothy E
The name netrin is derived from the Sanskrit Netr, meaning 'guide'. Netrins are a family of extracellular proteins that direct cell and axon migration during embryogenesis. Three secreted netrins (netrins 1, 3 and 4), and two glycosylphosphatidylinositol (GPI)-anchored membrane proteins, netrins G1 and G2, have been identified in mammals. The secreted netrins are bifunctional, acting as attractants for some cell types and repellents for others. Receptors for the secreted netrins include the Deleted in Colorectal Cancer (DCC) family, the Down's syndrome cell adhesion molecule (DSCAM), and the UNC-5 homolog family: Unc5A, B, C and D in mammals. Netrin Gs do not appear to interact with these receptors, but regulate synaptic interactions between neurons by binding to the transmembrane netrin G ligands NGL1 and 2. The chemotropic function of secreted netrins has been best characterized with regard to axon guidance during the development of the nervous system. Extending axons are tipped by a flattened, membranous structure called the growth cone. Multiple extracellular guidance cues direct axonal growth cones to their ultimate targets where synapses form. Such cues can be locally derived (short-range), or can be secreted diffusible cues that allow target cells to signal axons from a distance (long-range). The secreted netrins function as short-range and long-range guidance cues in different circumstances. In addition to directing cell migration, functional roles for netrins have been identified in the regulation of cell adhesion, the maturation of cell morphology, cell survival and tumorigenesis.
... 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. ...
Kim, Joyce; Mammo, Danny; Siegel, Marni B; Katsanis, Sara H
Abstract In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS) database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforce...
Chakravarty, Sugoto; Fox, George E.; Zhu, Dianhui
Most single-stranded RNA (ssRNA) viruses mutate rapidly to generate a large number of strains with highly divergent capsid sequences. Determining the capsid residues or nucleotides that uniquely characterize these strains is critical in understanding the strain diversity of these viruses. RECOVIR (an acronym for "recognize viruses") software predicts the strains of some ssRNA viruses from their limited sequence data. Novel phylogenetic-tree-based databases of protein or nucleic acid residues that uniquely characterize these virus strains are created. Strains of input virus sequences (partial or complete) are predicted through residue-wise comparisons with the databases. RECOVIR uses unique characterizing residues to identify automatically strains of partial or complete capsid sequences of picorna and caliciviruses, two of the most highly diverse ssRNA virus families. Partition-wise comparisons of the database residues with the corresponding residues of more than 300 complete and partial sequences of these viruses resulted in correct strain identification for all of these sequences. This study shows the feasibility of creating databases of hitherto unknown residues uniquely characterizing the capsid sequences of two of the most highly divergent ssRNA virus families. These databases enable automated strain identification from partial or complete capsid sequences of these human and animal pathogens.
Microphthalmos is a rare, potentially devastating condition. Catsch found 30 cases of microphthalmos in a population of 26,735 (0.11%); Scouras et al. among 120,000 ophthalmic out-patients found 70 cases of microphthalmos (0.058%); among 3,557 blind adults Lindstedt found 63 cases (1.77%) and Kissel et al. among 210,000 ophthalmic out-patients found 97 cases (0.046%). Congenital microphthalmos may be: colobomatous, complicated, pure. Pure microphthalmos or nanophthalmos is a rare condition in which the eye is reduced in size with a notably high ratio of the lens volume to eye volume, but no other congenital anomalies are present. The sclera is abnormally thick. Nanophthalmos may be sporadic or hereditary: hereditary transmission may be either recessive or dominant. These eyes are anatomically predisposition to angle-closure glaucoma and occasionally associated with uveal effusion. Angle-closure glaucoma probably is the result of the natural increase in the size of the lens with age; in addition, spontaneous choroidal detachment probably may cause elevation and forward rotation of the ciliary body pushing the lens-iris diaphragm forward, with increasing of the relative pupillary block. The uveal effusion probably is the result of choroidal congestion secondary to obstruction of vortex veins by abnormally thickened sclera. Uveal effusion may also occurs spontaneously in patients with nanophthalmos between the ages of 40 to 60 years. Surgical intervention with sudden decompression of the globe, appears to aggravate the degree of uveal effusion. Three cases of familial nanophthalmos associated with angle-closure glaucoma without uveal effusion not microcornea are reported. The occurrence of nanophthalmos in the same family suggests an autosomal recessive inheritance.(ABSTRACT TRUNCATED AT 250 WORDS)
de Montigny, F
The author presents a care plan based upon Sister Callista Roy's conceptual model, that is recognized as well suited to the family system. This, the first of two-part series, focuses on the first two steps of the care plan--the theoretical and practical aspects of data collection and data analysis. The subjects are a single mother and her son. During the first level of evaluation of the family system, the nurse observes and explores the family system's behavior as well as that of each of the family members using the four modes of adaptation: physiological needs, self-concept, role function, and interdependence relations. During the second level of evaluation, the nurse identifies observed and reported stimuli or factors within the family environment that influence observed behaviors. During the data analysis, the nurse determines if the reported or observed behaviors are adaptive or non-adaptive toward maintaining the bio-psycho-social integrity of the family. The nurse also determines if the behaviors allow for achievement of identified goals. The nurse establishes links between the behaviors and the stimuli, classes and organizes the findings, and formulates an appropriate nursing care plan. Next month's article will focus on the planning, implementation and evaluation of the nursing care plan. It will focus equally on the ways in which the nurse can facilitate the family's adaptation.
The results of a survey of 111 clinical psychologists in the Republic of Ireland along with some comparable data from US and UK surveys were used to address a series of questions about the link between family therapy and clinical psychology. Family therapy was not a clearly identifiable sub-specialty within clinical psychology in Ireland. Family therapy theoretical models were used by more than a quarter of the Irish sample to conceptualize their work but by less than a tenth of US and UK res...
Lynch, Henry; Wen, Hongxiu; Kim, Yeong C; Snyder, Carrie; Kinarsky, Yulia; Chen, Pei Xian; Xiao, Fengxia; Goldgar, David; Cowan, Kenneth H; Wang, San Ming
Genetic predisposition plays a key role in the development of familial breast cancer. In spite of strong familial clustering of the disease and extensive efforts made during the past decade; however, progress has been slow in identifying genetic predisposition for the majority of familial breast cancer families. The question arises therefore as to whether current approaches are adequate in identifying the unknown genetic predisposition. We analyzed eight members of a BRCA1-, BRCA2-, p53-, and PTEN-negative breast cancer family, of which five had breast cancer, one is an obligate gene carrier, and two were unaffected. We sequenced the entire coding region of the genome for each member using exome sequencing to identify nonsynonymous variants. We identified 55 nonsynonymous germline variants affecting 49 genes in multiple members of the family, of which 22 are predicted to have damaging effects. We validated 20 of the 22 selected variants in the family by Sanger sequencing. Two variants in KAT6B, an acetal transferase gene, were identified in six family members of which five were affected with breast cancer and one is the unaffected obligate carrier. We further examined the presence of the identified variants in a cohort of 40 additional breast cancer cases from 22 familial breast cancer families, but none of the 22 variants was detected in these cases. Sequencing the entire coding exons in KAT6B detects no variants in these cases. Our results show that genetic predisposition for familial breast cancer can be rich in an affected family, but the predisposition can be family-specific. As such, it will be difficult to detect them by applying population-based approach. Our study supports the concept that focusing on each affected family will be required to determine the genetic predisposition for many familial breast cancer families whose genetic dispositions remain unknown. © 2013 Wiley Periodicals, Inc.
Brandalyn C. Riedel
Full Text Available Objective. To understand who dementia patients identify as their family and how dementia affects family life. Background. Dementia care is often delivered in family settings, so understanding the constituency and needs of the family unit involved in care is important for determining contributors to family quality of life. Design/Methods. Seventy-seven families receiving care at an academic dementia clinic completed questionnaires regarding the affected person and the family. Responses were categorized as focused on an individual’s needs or the family’s needs. Results. Respondents identified a mean of 3.77 family members involved in care. Spouse (80.5%, daughter (58.4%, son (46.8%, and stepchild or child-in-law (37.7% were the most frequently listed family members. Questions regarding the effect of dementia-related changes in cognition and mood were most likely to elicit a family-focused response. Questionnaire items that inquired about specific medical questions and strategies to improve family function were least likely to elicit a family-focused response. Conclusions. Both caregivers and persons with dementia frequently provided family-focused responses, supporting the construct of dementia as an illness that affects life in the family unit. This finding reinforces the potential utility of family-centered quality of life measures in assessing treatment success for people with dementia.
Schor, Edward L
help guide the development of public policy and recommend how to assist pediatricians to promote well-functioning families (see Appendix). The magnitude of the assigned work required task force members to learn a great deal from research and researchers in the fields of social and behavioral sciences. A review of some critical literature was completed by a consultant to the task force and accompanies this report. That review identified a convergence of pediatrics and research on families by other disciplines. The task force found that a great deal is known about family functioning and family circumstances that affect children. With this knowledge, it is possible to provide pediatric care in a way that promotes successful families and good outcomes for children. The task force refers to that type of care as "family-oriented care" or "family pediatrics" and strongly endorses policies and practices that promote the adoption of this 2-generational approach as a hallmark of pediatrics. During the past decade, family advocates have successfully promoted family-centered care, "the philosophies, principles and practices that put the family at the heart or center of services; the family as the driving force." Most pediatricians report that they involve families in the decision making regarding the health care of their child and make an effort to understand the needs of the family as well as the child. Family pediatrics, like family-centered care, requires an active, productive partnership between the pediatrician and the family. But family pediatrics extends the responsibilities of the pediatrician to include screening, assessment, and referral of parents for physical, emotional, or social problems or health risk behaviors that can adversely affect the health and emotional or social well-being of their child. FAMILY CONTEXT OF CHILD HEALTH: The power and importance of families to children arises out of the extended duration for which children are dependent on adults to meet
Sussman, Marvin B.
The persistence of the nuclear family as the primary social unit in the United States and most all other societies, especially complex ones, is a fact. Values shape the definition of family, especially the "good family," and the "great debate" of this period on family failure, family corruption and the family's near demise originates in…
Isabel de Riquer
Full Text Available The scene is at the court of James I of Aragon in the mid-13th c., the place is the royal palace of Barcelona or any of the crown's other possessions, and the dramatis personae include the heir to the throne, prince Peire (future king Peire the Great, and the court's most famous troubadour, Cerverí de Girona (fl. 1259-85. Author of the largest corpus of any Occitan troubadour (114 poems, Cerverì distinguishes himself by the surprises and challenges he presents to his audience: an alba (the most openly erotic genre to the Virgin Mary, the Cobla in sis lengatges (Cobla in Six Languages, the apparently nonsensical Vers estrayn. Cerverì borrows equally from the folk-inspired Galician-Portuguese poetry and from the French tradition, including the chanson de malmariée, where a young woman bemoans being sold off by her family to an old man (gilos, "Jealous" and separated from her youthful doulz amis, some even praying for the death of their husband. Both within that tradition and among Cerverì's three chansons de malmariée, the Gelosesca stands out as "especially determined" to lose her husband, using every "solution" (prayer, black magic, potion or experimenta.
Blenner, Stephanie; Fernández, Ivys; Giron, Adriana; Grossman, Xena; Augustyn, Marilyn
The period of time after a child is identified with a developmental or mental health condition can be highly challenging. This is particularly true for diverse, underserved families who may face competing concerns related to poverty, culture, language, immigration, and family issues. Likewise, clinicians working with underserved families may…
Nacar, Eyyup; Karahuseyinoglu, M. Fatih; Karatas, Baykal; Altungul, Oguzhan
The families of individuals with Down-syndrome, autism, and mental problem who need for special requirements experience physical problems, tiredness, and antisocial life, which bring additional cost to family budget, from time to time due to difficulties of their children The aim of this study is to identify family burdens charged by kids with…
Kim, Hyun-Sil; Kim, Hun-Soo
The present study was aimed at determining the family factors related to juvenile delinquency and identifying the effect of family violence, family functioning, parental partner dynamics, and adolescents' personality on delinquent behavior among Korean adolescents. A cross-sectional study was performed using an anonymous, self-reporting…
The study examined the significant gender and family characteristics differences in work-family conflict, family-work conflict among workers in Lagos metropolis. Employee's perception as reflected in self reports constituted the central features of a model underlying the study, as perception is believed to be related to the ...
Wang Renzhong, secretary of the Secretariat of the CCP Central Committee, and Chen Muhua, vice premier of the State Council, addressed the national discussion meeting on propaganda for family planning. Wang Renzhong stated that if population control and family planning continue to be overlooked, population growth will become a calamity in the future. He identified family planning as a permanent strategic task and said that more publicity should be given to family planning, particularly in the rural areas. Chen Muhua discussed her recent briefing to Vice Chairman Deng on the progress made in family planning during 1980 and the current problems. She reported that Vice Chairman Deng expressed satisfaction over the 1980 achievements in family planning. Deng advised creating public opinion in favor of family planning. The national discussion meeting on propaganda for family planning was held in Beijing during January. Measures for implementing "major points of propaganda on controlling China's population growth" were studied.
Eduardo Coutinho Lourenço de Lima
Full Text Available In this paper, I discuss how the principle of identifying knowledge which Strawson advances in ‘Singular Terms and Predication’ (1961, and in ‘Identifying Reference and Truth-Values’ (1964 turns out to constrain communication. The principle states that a speaker’s use of a referring expression should invoke identifying knowledge on the part of the hearer, if the hearer is to understand what the speaker is saying, and also that, in so referring, speakers are attentive to hearers’ epistemic states. In contrasting it with Russell’s Principle (Evans 1982, as well as with the principle of identifying descriptions (Donnellan 1970, I try to show that the principle of identifying knowledge, ultimately a condition for understanding, makes sense only in a situation of conversation. This allows me to conclude that the cooperative feature of communication (Grice 1975 and reference (Clark andWilkes-Gibbs 1986 holds also at the understanding level. Finally, I discuss where Strawson’s views seem to be unsatisfactory, and suggest how they might be improved.
Thorngren, Jill M.; Kleist, David M.
Multiple Family Group Therapy has been identified as a viable treatment model for a variety of client populations. A combination of family systems theories and therapeutic group factors provide the opportunity to explore multiple levels of intrapersonal and interpersonal relationships between families. This article depicts a Multiple Family Group…
Herring, Roger D.; Erchul, William P.
David H. Olson's circumplex model identifies 16 types of family systems based on the dimensions of cohesion, adaptability, and communication. This paper relates the circumplex model to Native American familial structures. The historical Native American family was a multigenerational extended family with no desire for change, a description…
Eichelsheim, Veroni I.; Dekovic, Maja; Buist, Kirsten L.; Cook, William L.
The Social Relations Model (SRM) allows for examination of family relations on three different levels: the individual level (actor and partner effects), the dyadic level (relationship effects), and the family level (family effect). The aim of this study was to present a systematic review of SRM family studies and identify general patterns in the…
A small proportion of cases seen in neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS), Parkinson\\'s disease and Alzheimer disease are familial. These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene discovery.
Synopsis Genes linked to ALS susceptibility are being identified at an increasing rate owing to advances in molecular genetic technology. Genetic mechanisms in ALS pathogenesis appear to exert major effects in ~10% of patients, but genetic factors at some level may be important components of disease risk in most ALS patients. Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes. Translation of this knowledge to ALS therapy development is ongoing. PMID:26515623
Tudor, Kelly; Berger, Jill; Polivka, Barbara J; Chlebowy, Rachael; Thomas, Beena
Although strong evidence indicates that the presence of a patient's family during resuscitation has a positive effect on the family, the practice is still controversial and is not consistently implemented. To explore nurses' experience with resuscitation, perceptions of the benefits and risks of having a patient's family members present, and self-confidence in having family presence at their workplace. Differences in demographic characteristics and relationships between nurses' perceptions of self-confidence and perceived risks and benefits of family presence were evaluated. The study was descriptive, with a cross-sectional survey design. A convenience sample of 154 nurses working in inpatient and outpatient units at an urban hospital were surveyed. The 63-item survey included 2 previously validated scales, demographic questions, and opinion questions. Nurses' self-confidence and perceived benefit of family presence were significantly related (r = 0.54; P resuscitation events, were specialty certified, or were members of nurses' professional organizations. Barriers to family presence included fear of interference by the patient's family, lack of space, lack of support for the family members, fear of trauma to family members, and performance anxiety. Changing the practice of family presence will require strengthening current policy, identifying a team member to attend to the patient's family during resuscitation, and requiring nurses to complete education on evidence that supports family presence and changes in clinical practice. ©2014 American Association of Critical-Care Nurses.
Legeckaitė, Indrė; Pilkauskienė, Ina
Parental alcoholism leads to a dysfunctional environment in the family, which carries the potential to cause various difficulties for the children. The aim of the research is to exam of the correlation between the academic achievements of adolescents from alcoholic families and the adolescent’s role in the family. For this purpose CAST-6 (Children of Alcoholics Screening Test, Hodgins and Shimp, 1995) was used; it is meant for identifying the individuals from alcoholic families. To assess the...
What was the nature of the CPD activity, practice-related feedback and/or event and/or experience in your practice? The article explored different learning styles and outlined some of the models that can be used to identify them. It discussed the limitations of these models, indicating that although they can be helpful in identifying a student's preferred learning style, this is not 'fixed' and might change over time. Learning is also influenced by other factors, such as culture and age.
Beeber, Anna Song; Zimmerman, Sheryl
This article presents an adaptation of the Family Management Style Framework (FMSF)-a well-established framework of family response to chronic condition care of children-to families caring for older adults with dementia. Using the FMSF to better understand how families manage dementia care can provide clinicians with insights on how to work effectively with families. Using data from interviews with eight female caregivers of older adults with dementia, this secondary analysis adapts the FMSF, and identifies new dimensions that apply specifically to families caring for older adults with dementia. The discussion draws comparisons between the family management of a child with chronic condition to management of an older adult with dementia. The article concludes with a discussion of how understanding how families manage care of an older adult with dementia informs assessment for management styles and the tailoring of interventions specific to family, caregiver, and older adult needs.
Harris, Julie N.; Hay, Jennifer; Kuniyuki, Alan; Asgari, Maryam M; Press, Nancy; Bowen, Deborah J.
OBJECTIVE The family provides an important communication nexus for information and support exchange about family cancer history, and adoption of family-wide cancer risk reduction strategies. The goals of this study were to: 1) use the family systems theory to identify characteristics of this sample of families at increased risk of developing melanoma and 2) to relate familial characteristics to the frequency and style of familial risk communication. METHODS Participants were first-degree relatives (n=313) of melanoma patients, recruited into a family web-based intervention study. We used multivariable logistic regression models to analyze the association between family functioning and family communication. RESULTS Most participants were female (60%), with an average age of 51 years. Fifty percent of participants reported that they spoke to their relatives about melanoma risk and people were more likely to speak to their female family members. Familial adaptation, cohesion, coping, and health beliefs were strongly associated with an open style of risk communication within families. None were associated with a blocked style of risk communication. Only cohesion and adaptation were associated with the amount of risk communication that occurred within families. CONCLUSIONS Overall, individuals who came from families that were more highly cohesive, adaptable, and shared strong beliefs about melanoma risk were more likely to communicate openly about melanoma. The fact that this association was not consistent across blocked communication and communication frequency highlights the multifaceted nature of this process. Future research should focus on the interplay between different facets of communication. PMID:20119933
Congdon, Mark, Jr.; Herakova, Liliana; Bishop, Jessica
Courses: Introduction to Communication, Introduction to Interpersonal Communication, Family Communication, Small Group Communication, Communication and Listening. Objectives: By this end of this activity, students will be able to identify and practice supportive and defensive communication; understand a dialogic approach to conflict; and…
System (SMDSS) to identify factors that make forest and game reserves vulnerable to rampant human induced ... Commission Act, 1999 (Act 571); and Wildlife Resources (Amendment) (Declaration of Game Reserves). Regulations, 1976 ..... A dynamic simulation model of land-use changes in Sudano-sahelian countries of ...
Abraham, Janice M.
The role of the college or university chief financial officer in institutional risk management is (1) to identify risk (physical, casualty, fiscal, business, reputational, workplace safety, legal liability, employment practices, general liability), (2) to develop a campus plan to reduce and control risk, (3) to transfer risk, and (4) to track and…
Bögels, Susan M; Brechman-Toussaint, Margaret L
Family studies have found a large overlap between anxiety disorders in family members. In addition to genetic heritability, a range of family factors may also be involved in the intergenerational transmission of anxiety. Evidence for a relationship between family factors and childhood as well as parental anxiety is reviewed. Four groups of family variables are considered: (I) attachment; (II), aspects of family functioning, such as marital conflict, co-parenting, functioning of the family as a whole, and sibling relationships; (III) parental rearing strategies; and (IV) beliefs that parents hold about their child. The reviewed literature provides evidence for an association between each of these family factors and child anxiety. However, there is little evidence as yet that identified family factors are specific to child anxiety, rather than to child psychopathology in general. Moreover, evidence for a relationship between child anxiety and family factors is predominantly cross-sectional. Therefore, whether the identified family factors cause childhood anxiety still needs to be investigated. Further research that investigates mechanisms mediating the relationship between family factors and child anxiety is also called for. Finally, parental beliefs are identified as important predictors of parental behaviour that have largely not been investigated in relation to child anxiety disorders.
Lepistö, Sari; Ellonen, Noora; Helminen, Mika; Paavilainen, Eija
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.
Gunter, B. G.
Describes a method for teaching family sociology to students by utilizing volunteer families. Benefits of the approach were that students became involved in subject matter of a course on a semi-empirical level, and they became aware of all dimensions of family life. (EK)
Full Text Available Introduction comprises the information on two main forms of same sex families, civic partnership (same sex partnership and same sex marriage. Countries and various status modalities of legal regulations are mentioned. The main part of the text is dedicated to presentation of the findings of the most recent research on various aspects regarding children of same sex partnerships. It comprises presentations grouped in four main chapters: acceptance of same sex partnerships, acceptance of legal recognition of the same sex partnerships, family plans of homosexual teenagers, and raising children within and by the same sex partners. Also the real life cases mirroring legal changes through their life destinies are presented, such is e.g. the Irish way to legalization of the same sex partnerships. In addition, a love story of two women crowned by giving birth of their four children is mentioned. Reasons against and negative reactions the author puts under the title Homophobia. In the Concluding remarks, the author presents the most recent examples of legal changes happened in Norway, Ecuador, and in the American states of California and Connecticut. It was also stated that in European countries of low birth rate, the same sex families are inevitably identified as one of demographically valuable source of creating and raising children, which is worthy to be supported, rather than being hindered without reason and discriminated. Although different than a model of heterosexual family, same sex partnerships neither are harrowing to traditional family values, nor reflex of any kind of promiscuous, antisocial behavior, avoidance of parenthood, and negation of family. Quite opposite, these families are an outcome of endeavors of homosexuals not to be deprived of family, parenthood and all of other values of stabile, monogamous, emotional/sexual socially accepted and legally recognized and regulated conventional family. .
Grosse, Susan J.
This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.
... 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 ...
... 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 ...
... and Birth Control Sex and Sexuality Birth Control Family Health Infants and Toddlers Kids and Teens Pregnancy ... Home Prevention and Wellness Staying Healthy Choosing a Family Doctor Choosing a Family Doctor Share Print What ...
Holtom-Viesel, Anita; Allan, Steven
The objectives of this review were to systematically identify and evaluate quantitative research comparing family functioning (a) in eating disorder families with control families, (b) in families with different eating disorder diagnoses (c) perceptions of different family members and (d) the relationship between family functioning and recovery. This adds to the findings of previous reviews of family functioning by including data from control families, the range of diagnoses, and focusing on recovery. Findings were considered in relation to models of family functioning. Using specific search criteria, 17 research papers were identified and evaluated. Findings indicated that eating disorder families reported worse family functioning than control families but there was little evidence for a typical pattern of family dysfunction. A consistent pattern of family dysfunction for different diagnoses was not suggested but patients consistently rated their family as more dysfunctional than one or both of their parents. With respect to outcome and recovery, those with more positive perceptions of family functioning generally had more positive outcomes, irrespective of severity of eating disorder. Conclusions were limited by inconsistent findings and methodological issues. Further research is needed into the relationship between family functioning and outcome and the assessment of family functioning beyond self-report. © 2013.
Wielinga, Peter; Hendriksen, Rene S.; Aarestrup, Frank Møller
-source systems. There is therefore an obvious need to develop a global system of whole microbial genome databases to aggregate, share, mine and use microbiological genomic data, to address global public health and clinical challenges, and most importantly to identify and diagnose infectious diseases. The global...... of microorganisms, for the identification of relevant genes and for the comparison of genomes to detect outbreaks and emerging pathogens. To harness the full potential of WGS, a shared global database of genomes linked to relevant metadata and the necessary software tools needs to be generated, hence the global...... microbial identifier (GMI) initiative. This tool will ideally be used in amongst others in the diagnosis of infectious diseases in humans and animals, in the identification of microorganisms in food and environment, and to track and trace microbial agents in all arenas globally. This will require...
Guyard, Audrey; Michelsen, Susan I; Arnaud, Catherine
BACKGROUND AND AIM: Factors promoting family adaptation to child's disability are poorly studied together. The aim of the study was to describe the family adaptation to disability and to identify determinants associated with using a global theoretical model. MATERIALS AND METHODS: 286 families...... system: facing disability, it tries to recover its balance with available resources and its perception of the situation. Literature highlights potential stressors and protecting factors that could affect the disabled child's family adaptation but few papers study a global model including most...... of these factors. This study validated a global theoretical model of family adaptation to disability at adolescence. It identified behaviour disorders and motor impairment level as main stressors, family functioning as the largest protecting factors, and equipment and financial support as non significant...
Hurley, I W; Brooks, A M; Reinehr, D P; Grant, G B; Gillies, W E
A series of 22 patients with crystals in the anterior segment of the eye was examined by specular microscopy. Of 10 patients with hypermature cataract and hyperrefringent bodies in the anterior chamber cholesterol crystals were identified in four patients and in six of the 10 in whom aspirate was obtained cholesterol crystals were demonstrated in three, two of these having shown crystals on specular microscopy. In 10 patients with intracorneal crystalline deposits, cholesterol crystals were f...
STUDY SETTING. A statewide patient discharge database contained only one unique identifier: the social security number (SSN). A method was developed to transform (encrypt) the SSN so that it could be made publicly available, for purposes of linking discharge records, without revealing the SSN itself. The method of encrypting the SSN into a Record Linkage Number (RLN) is described. PRINCIPAL FINDINGS. The same RLN will always result from the same SSN; it is highly improbable that the same RLN ...
Pollock, J. J.; Ghuysen, J. M.; Linder, R.; Salton, M. R. J.; Perkins, H. R.; Nieto, M.; Leyh-Bouille, M.; Frere, J. M.; Johnson, K.
In the presence of Nα,Nε-diacetyl-L-Lys-D-Ala-D-Ala as donor, and either D-[14C]alanine, [14C]-glycine, or meso-[3H]diaminopimelic acid as acceptor, the DD carboxypeptidases from Streptomyces R61 and R39 catalyze a transpeptidation reaction with the release of terminal D-alanine from the donor and the formation of either Nα,Nε-diacetyl-L-Lys-D-Ala-D-[14C]Ala, Nα,Nε-diacetyl-L-Lys-D-Ala-[14C] Gly, or Nα,Nε-diacetyl-L-Lys-D-Ala-D-meso- [3H]diaminopimelic acid. The reaction appears to be a true transpeptidation, and is not simply a “reversal of hydrolysis”. Transpeptidation is inhibited by pencillin at concentrations that inhibit hydrolysis (carboxypeptidase action) of the donor peptide. There are differences in the specificity profiles of the Streptomyces enzymes for acceptor molecules:only the R61 enzyme used [14C]Gly-Gly as acceptor; transfer of Nα,Nε-diacetyl-L-Lys-D-Ala to this acceptor resulted in the formation of Nα,Nε-diacetyl-Lys-D-Ala-[14C] Gly-Gly, with the synthesis of a (D-Ala-Gly) peptide bond in an endoposition. Images PMID:4501580
... Diabetes Diabetes Risk Test Family Health History Quiz Family Health History Quiz Family health history is an ... health problems. Four Questions You Should Ask Your Family About Diabetes & Family Health History Knowing your family ...
Hsiao, Yun-Ju; Higgins, Kyle; Pierce, Tom; Whitby, Peggy J Schaefer; Tandy, Richard D
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.
Yeong C Kim
Full Text Available Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations. The Egyptian population has high genetic variations in reflecting its divergent ethnic origins, and incident rate of familial breast cancer in Egypt is also higher than the rate in many other populations. Using whole exome sequencing, we investigated genetic predisposition in five Egyptian familial breast cancer families. No pathogenic variants in BRCA1, BRCA2 and other classical breast cancer-predisposition genes were present in these five families. Comparison of the genetic variants with those in Caucasian familial breast cancer showed that variants in the Egyptian families were more variable and heterogeneous than the variants in Caucasian families. Multiple damaging variants in genes of different functional categories were identified either in a single family or shared between families. Our study demonstrates that genetic predisposition in Egyptian breast cancer families may differ from those in other disease populations, and supports a comprehensive screening of local disease families to determine the genetic predisposition in Egyptian familial breast cancer.
Bialasiewicz, Jan T.
Self-tuning control algorithms are potential successors to manually tuned PID controllers traditionally used in process control applications. A very attractive design method for self-tuning controllers, which has been developed over recent years, is the long-range predictive control (LRPC). The success of LRPC is due to its effectiveness with plants of unknown order and dead-time which may be simultaneously nonminimum phase and unstable or have multiple lightly damped poles (as in the case of flexible structures or flexible robot arms). LRPC is a receding horizon strategy and can be, in general terms, summarized as follows. Using assumed long-range (or multi-step) cost function the optimal control law is found in terms of unknown parameters of the predictor model of the process, current input-output sequence, and future reference signal sequence. The common approach is to assume that the input-output process model is known or separately identified and then to find the parameters of the predictor model. Once these are known, the optimal control law determines control signal at the current time t which is applied at the process input and the whole procedure is repeated at the next time instant. Most of the recent research in this field is apparently centered around the LRPC formulation developed by Clarke et al., known as generalized predictive control (GPC). GPC uses ARIMAX/CARIMA model of the process in its input-output formulation. In this paper, the GPC formulation is used but the process predictor model is derived from the state space formulation of the ARIMAX model and is directly identified over the receding horizon, i.e., using current input-output sequence. The underlying technique in the design of identified predictive control (IPC) algorithm is the identification algorithm of observer/Kalman filter Markov parameters developed by Juang et al. at NASA Langley Research Center and successfully applied to identification of flexible structures.
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.
This paper examines the possibility of finding evidence that phenomenal consciousness is independent of access. The suggestion reviewed is that we should look for isomorphisms between phenomenal and neural activation spaces. It is argued that the fact that phenomenal spaces are mapped via verbal report is no problem for this methodology. The fact that activation and phenomenal space are mapped via different means does not mean that they cannot be identified. The paper finishes by examining how data addressing this theoretical question could be obtained.
Full Text Available Despite integration of advanced functions that enable Femto Access Points (FAPs to be deployed in a plug-and-play manner, the femtocell concept still cause several opened issues to be resolved. One of them represents an assignment of Physical Cell Identifiers (PCIs to FAPs. This paper analyses a random based assignment algorithm in LTE systems operating in diverse femtocell scenarios. The performance of the algorithm is evaluated by comparing the number of confusions for various femtocell densities, PCI ranges and knowledge of vicinity. Simulation results show that better knowledge of vicinity can significantly reduce the number of confusions events.
A. A. Chernova
Full Text Available Pedigree of the family from Krasnoyarsk city with hereditary disorders of intracardiac conduction was studied. The diagnosis of each family member was verified by electrocardiography (ECG, echocardiography , bicycle ergometry , ECG Holter monitoring. The family 10-year follow-up showed familial aggregation of intracardiac conduction disorders in grandson, niece, son of the proband niece, ie, in the III-degree relatives. Family history of III-degree relatives with intracardiac conduction disorders and discordant pathology is identified.
de Haan, M.
This paper investigates the effect of family size and birth order on educational attainment. An instrumental variables approach is used to identify the effect of family size. Instruments for the number of children are twins at last birth and the sex mix of the first two children. The effect of birth
Full Text Available We analyze the concept of a “family as a social and cultural value”, its priority in the education of children compared with public institutions. We reveal the research areas of the problem of family values: the family as part of the hierarchy of values in the structure of social consciousness, the traditional ideal of the family as a unity of marriage, parenthood and family relationships, the study of family values in the structure of incentive components of individuals behavior. In the current conditions of the family crisis, we pay special attention to the family values of future teachers, as the regulations and professional activities orient them to work closely with the family. We identified indicators of value relations to family in the future teachers and the factors influencing the formation of values related to the family
M.A.A.M. Leenders (Mark); E. Waarts (Eric)
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 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.)
Ahluwalia, Hargun; Anand, Tanya; Suman, L N
Substance abuse is a family disease that adversely impacts both the user and the user's family. The family can act as a risk factor for the development of substance abuse among children and adults. The family can also be involved in therapy to either help the recovery process or prevent substance abuse. Marital and family therapy have been found to be effective in reducing the severity of substance use, lowering marital and family conflict, improving family communication and cohesion as well as effective parenting practices. Behavioural Couples Therapy has been found to have good empirical support for bringing about the desired changes in both substance abuse and marital relationship. While targeting entire families, the most common evidenced based family interventions are Brief Strategic Family Therapy, Multidimensional Family Therapy, Family Behaviour Therapy, Functional Family Therapy and Community Reinforcement Programme. Marital and family therapy have to be sensitive to gender and culture. Effective use of marital and family therapy requires adequate training to equip practitioners in adequately treating not only substance use disorders and family pathology, but also in treating co-morbid mental health conditions.
Bundy, Michael L., Ed.; Gumaer, James, Ed.
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…
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.
Loga, Slobodan; Sošić, Bojan; Kulenović, Alma Džubur; Svraka, Emira; Bosankić, Nina; Kučukalić, Abdulah; Cemalović, Omer; Hadžić, Alma
Quality of life assessments are increasingly present in health research. Chronic and progressive illness of a family member unavoidably affects quality of life of a family as a whole. The goals of this study were to gain insight into the family burden of chronic disorders, especially possible differences in family quality of life (FQOL) in families that have members suffering from either schizophrenia or Crohn's disease, and families in which none of the members have chronic somatic or mental illness, as well as to pilot an instrument for this purpose. The sample consisted of 53 families with a member suffering from schizophrenia, 50 families with a member suffering from Crohn's disease, and 45 families with no identifiable chronic illnesses. An informant from each family underwent a structured face to face interview, using a questionnaire specially adapted from Family Quality of Life Survey, an instrument widely used to assess FQOL in families with members with disabilities, and which addresses nine areas of family life. In the domain of health, both groups of families with chronic illnesses believe they have significantly different conditions when compared to members of the Control group. In the Crohn's disease group, families had a great deal more of challenges in accessing healthcare services; and see themselves at a disadvantage when compared to both other groups in the domain of finances. Control group offered lowest rating in the domain of support from others. Overall measures of FQOL show significant variation among the three groups, Crohn's disease group offering lowest ratings, followed by families of mental health service users. Overall, FQOL seems to be lower in families that have members diagnosed with Crohn's disease than in families with members suffering from schizophrenia. Illness-specific studies are required, as well as instruments with stronger psychometric properties and studies of determinants of FQOL. Qualitative approach should be emphasised
Neff, John E.
A clear picture of the influential drivers of private family firm performance has proven to be an elusive target. The unique characteristics of private family owned firms necessitate a broader, non-financial approach to reveal firm performance drivers. This research study sought to specify and evaluate the themes that distinguish successful family firms from less successful family firms. In addition, this study explored the possibility that these themes collectively form an effective organizational culture that improves longer-term firm performance. At an organizational level of analysis, research findings identified four significant variables: Shared Vision (PNS), Role Clarity (RCL), Confidence in Management (CON), and Professional Networking (OLN) that positively impacted family firm financial performance. Shared Vision exhibited the strongest positive influence among the significant factors. In addition, Family Functionality (APGAR), the functional integrity of the family itself, exhibited a significant supporting role. Taken together, the variables collectively represent an effective family business culture (EFBC) that positively impacted the long-term financial sustainability of family owned firms. The index of effective family business culture also exhibited potential as a predictive non-financial model of family firm performance. PMID:26042075
Neff, John E
A clear picture of the influential drivers of private family firm performance has proven to be an elusive target. The unique characteristics of private family owned firms necessitate a broader, non-financial approach to reveal firm performance drivers. This research study sought to specify and evaluate the themes that distinguish successful family firms from less successful family firms. In addition, this study explored the possibility that these themes collectively form an effective organizational culture that improves longer-term firm performance. At an organizational level of analysis, research findings identified four significant variables: Shared Vision (PNS), Role Clarity (RCL), Confidence in Management (CON), and Professional Networking (OLN) that positively impacted family firm financial performance. Shared Vision exhibited the strongest positive influence among the significant factors. In addition, Family Functionality (APGAR), the functional integrity of the family itself, exhibited a significant supporting role. Taken together, the variables collectively represent an effective family business culture (EFBC) that positively impacted the long-term financial sustainability of family owned firms. The index of effective family business culture also exhibited potential as a predictive non-financial model of family firm performance.
John Edward Neff
Full Text Available A clear picture of the influential drivers of private family firm performance has proven to be an elusive target. The unique characteristics of private family owned firms necessitate a broader, non-financial approach to reveal firm performance drivers. This research study sought to specify and evaluate the themes that distinguish successful family firms from less successful family firms. In addition, this study explored the possibility that these themes collectively form an effective organizational culture that improves longer-term firm performance. At an organizational level of analysis, research findings identified four significant variables: Shared Vision (PNS, Role Clarity (RCL, Confidence in Management (CON, and Professional Networking (OLN that positively impacted family firm financial performance. Shared Vision exhibited the strongest positive influence among the significant factors. In addition, Family Functionality (APGAR, the functional integrity of the family itself exhibited a significant supporting role. Taken together, the variables collectively represent an effective family business culture (EFBC that positively impacted the long-term financial sustainability of family owned firms. The index of effective family business culture also exhibited potential as a predictive non-financial model of family firm performance.
Martín Padilla, Ernesto; Obando Posada, Diana; Sarmiento Medina, Pedro
Identify attitudes and behaviors that evidence and characterize family adherence to treatment in patients with severe mental disorder. Qualitative descriptive, from an interpretative social approach. Chia, Colombia, with professionals in the psychiatric and geriatric settings. Twelve professionals in psychiatry, nursing and psychology, with experience in care of patients with serious mental disorder and their families. Intentional sampling. Twelve semi-structured interviews were carried out. The analysis strategy was made from the procedures of constant comparison and open coding of the grounded theory. As validation strategies, triangulation was done between researchers and methods, as interviews and results survey. Two categories of family adherence were defined: family and treatment (treatment cooperation, knowledge about the disease and attention to the disease evolution), and family attitudes towards the patient (patient's care, patient's promotion of autonomy, and affective attachment with the patient). A third category showed aspects that diminished family adherence, such as lack or distortion of information regarding mental disorder, or family and patient endurance attitudes. Participants agree about the relevance of the construct named «family adherence», which describes the behaviors and attitudes of the family regarding the treatment of patients with severe mental disorder. Family adherence can be seen as active participation behavior, but also as a process of strengthening relationships, which can reduce the burden and suffering on family members, caregivers and patients. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.
Ikeda, Tokunori; Masuda, Teruaki; Ueda, Mitsuharu; Yamashita, Taro; Misumi, Yohei; Shinriki, Satoru; Ando, Yukio
Background This retrospective longitudinal study was performed to determine whether tafamidis treatment leads to improvements in commonly used blood data for transthyretin familial amyloid polyneuropathy (TTR-FAP). Methods Commonly used blood data (complete blood count [including a haemogram], total protein, albumin, blood urea nitrogen, creatinine, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, γ-glutamyl transpeptidase, total bilirubin [T-Bil], creatine kinase, choline esterase, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, estimated glomerular filtration rate [eGFR], serum amyloid A protein, TTR, haemoglobin A1c, free triiodothyronine [FT3] and free thyroxine [FT4]) were investigated in 33 TTR-FAP patients. These values included longitudinal data at three time points: six months before or after tafamidis treatment and one year after tafamidis treatment. Longitudinal changes in each blood item were examined using a linear mixed model, adjusting for age at starting tafamidis, sex, TTR-FAP stage and value before tafamidis treatment. Results Our results show elevated TTR concentrations after tafamidis treatment. In contrast, haemoglobin, mean corpuscular haemoglobin, mean corpuscular haemoglobin concentration, mean platelet volume, platelet distribution width, T-Bil, eGFR, FT3 and FT4, gradually decreased through a reference range. There were no characteristic observations in any other items. TTR binds to thyroid hormone; therefore, FT3 and FT4 decreased in inverse proportion to increased TTR concentrations. Conclusion Unfortunately, progression to anaemia may occur regardless of tafamidis treatment. Because anaemia is sometimes present in TTR-FAP, attention should be paid to longitudinal changes in commonly used blood data, irrespective of tafamidis treatment.
Braun-Scharm, H; Frank, R
Following a short overall view on family therapeutic models of close family systems and on incest family models, the concept "incestoid family" is conceived. In this way, families should be exemplified in which it is true that no manifest incest occurs, but by going from one generation to another, relationships between parents and children, resembling a relationship between partners and the constellation of subliminal enticement and seduction situations promote pseudosexual behaviour patterns; the most conspicuous symptom of such a family is hyper- as well as hyposexualised behaviour in children and young people. Definitive and conceptual demarcations to oedipal and incestuous structures were undertaken. Four case descriptions should illustrate the clinic of incestoid families.
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.
A flexible character-indentable plastics embossing tape is backed by and bonded to a lead strip, not more than 0.025 inches thick, to form a tape suitable for identifying radiographs. The lead strip is itself backed by a relatively thin and flimsy plastics or fabric strip which, when removed, allows the lead plastic tape to be pressure-bonded to the surface to be radiographed. A conventional tape-embossing gun is used to indent the desired characters in succession into the lead-backed tape, without necessarily severing the lead; and then the backing strip is peeled away to expose the layer of adhesive which pressure-bonds the indented tape to the object to be radiographed. X-rays incident on the embossed tape will cause the raised characters to show up dark on the subsequently-developed film, whilst the raised side areas will show up white. Each character will thus stand out on the developed film. (author)
Dergun, Marina; Kao, Annie; Hauger, Sarmistha B.; Newburger, Jane W.; Burns, Jane C.
Objective To describe families with multiple members affected with Kawasaki syndrome (KS) to increase awareness of the familial occurrence of KS among practitioners who care for these patients. Design Retrospective review of medical records at 2 medical centers and data collection from remote KS families who contacted the KS Research Program at the University of California, San Diego. Results Eighteen families with multiple affected members were identified. There were 9 families with 2 affected siblings. In San Diego, 3 (0.7%) of 424 KS families had sibling cases. Nine families were identified with KS in 2 generations or in multiple affected members, yielding a total of 24 KS-affected children. No clear pattern of inheritance could be deduced from these pedigrees, and it is likely that multiple polymorphic alleles influence KS susceptibility. Conclusion Physicians should counsel affected families and make them aware of the potential increased risk of KS among family members. PMID:16143748
suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling, and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome. Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform. Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.
Tomlinson, B; White, M A; Wilson, M E
Pregnancy as a transition in family life is perceived as a crisis by many families. Sociodemographic characteristics of families during pregnancy can serve as important sources of information to nurses in drawing out family strengths and providing assistance during this crisis. Family dynamics were measured in 160 women in the third trimester of pregnancy. Half were in their first pregnancy and half were in their second pregnancy. The research question addressed the relationship between family dynamics and several sociodemographic characteristics. Statistically significant relationships were found between the sociodemographic variables of marital and social status, and several dimensions of family dynamics. Families in which couples were married and who enjoyed a higher social status had more positive family dynamics in the dimensions of individuation, stability, flexibility, mutuality and communication. Race, maternal age and parity were not related to level of family dynamics. Strengths in families who have more positive dynamics may be explained by availability of resources, their expertise in using the system, societal approval of marriage and internal family support from the husband. It is essential for nursing care to include systematic family assessment, socialization in effectively using the health care system and individualized family guidance.
Full Text Available There are few family owned businesses that survive to the next generation. In general, 30% of these businesses are passed on to second generation families and less than 15% survive to third generation families. There has been little research done on third generation family businesses. Therefore the main purpose of this paper is to identify the principal difficulties of passing on managerial skills to the third generation owners. This study uses a case study of a Brazilian family organization composed of twelve enterprises. The instrument to collect data was an individually guided recorded interview with all of the family managers (1ª, 2ª e 3ª generation. The technique applied, was suggested for Miles & Huberman (1994 to group the data in analytical categories to facilitate the analyzed speeches contained in the 49 blocks of responses. As a result, the transition the business to the third generation owners has been strongly associated with the relation between family and business by the following factors: a the succession process influenced by emotional and family values; b conflicts, rivalries and divergences of strategic visions and business goals between the family generations; c lack of professional criteria to hire relatives; and d fragility of communication and consequent asymmetry of information among the family members.
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....
Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael
covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large...
Glass, Valerie Q
Twenty-two African American lesbians were interviewed in order to identify and examine the intersection of individual and family processes that African American lesbian couples engage in as a family with members of their families of origin. A qualitative research design based on grounded theory methods was used. Data were interpreted using an integrative framework of postmodern feminism, Black feminism, and symbolic interactionism. Findings revealed three major themes: a) Black lesbian couple...
Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S
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.
Elisa Barbiano di Belgiojoso
Full Text Available Background: Family reunification of migrants in their destination country is often the result of a process that includes one or more steps and combines family and migration events. However, the lack of relevant data often limits the possibility of studying all these stages. Objective: The paper aims to identify family migration models by means of the entire family migration trajectory, highlighting the relationship of these models with the migration project and with the family, cultural, and gender norms of the country of origin. Methods: We used sequence analysis on a large sample of resident families with at least one foreign-born member in Italy, using data collected by the Italian Institute of Statistics in 2011-2012. We focused exclusively on migrants from less developed countries and the countries of Central and Eastern Europe. Results: Our results indicate that family characteristics and stability in the host country are not always relevant for family reunification. Family, cultural, and gender norms of the home country and the nature of the migration project itself determine the family migration model. When the migration project becomes orientated, or converges over time to settlement, family reunification is pursued regardless of the possible difficulties and conditions during emigration. Conversely, during the time that migrants are maintaining a temporary project, family reunification is not even considered. Contribution: Adopting a longitudinal approach, we generalised and extended previous results, considering migrants from additional countries and studying the reunification of all family members. We compared family migration models and their association with gender, cultural, and family norms of the country of origin and the family migration project.
Janunger, T.; Nilsson-Ardnor, S.; Wiklund, P.-G.
OBJECTIVES: The population of northern Sweden is characterized by reduced genetic diversity and a high incidence of stroke. We sought to reduce genetic variation further, using genealogic analysis in a set of nuclear families affected by stroke, and we subsequently performed a genome-wide scan...... to identify novel stroke susceptibility loci. METHODS: Through genealogy, 7 nuclear families with a common ancestor, connected over 8 generations, were identified. A genome-wide scan using 449 microsatellite markers was performed with subsequent haplotype analyses. RESULTS: A maximum allele-sharing lod score...... of 4.81 on chromosome 9q31-q33 was detected. Haplotype analysis identified a common 2.2-megabase interval in the chromosomal region in 4 of the nuclear families, where an overrepresentation of intracerebral hemorrhage was observed. CONCLUSIONS: We have identified a novel susceptibility locus for stroke...
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Miller-Bruce, Andrea E.
Family characteristics, and their typologies were examined in relationship to family adaptation in 97 nonclinical families with adolescents. Cohesion, adaptability, and satisfaction were measured by Family Adaptability and Cohesion Evaluation Scales III. Quantity of family time and routines and value of family time and routines were assessed using an adapted version of the Family Time and Routines Index. The dependent variable, family adaptation, was obtained using the Family M...
Sammartino, Frank J.
This report identifies overall tax burdens faced by low income families, explaining how those burdens would change if certain types of federal income tax cuts were enacted. Using detailed household-level data on incomes and taxes, the report shows how federal income and payroll taxes differ for low income families and how these families benefit…
Greeff, Abraham Petrus; Van den Berg, Estelle
The aim of this study was to identify family resilience characteristics in families in which a child has been bullied, in the Western Cape province of South Africa. Forty-eight mothers represented their families and completed a biographical questionnaire containing an open-ended question, and seven self-report questionnaires. Results from the…
McCubin, Hamilton I.; And Others
Longitudinal study on 48 families of returned prisoners of war to identify factors to explain degree of reintegration of returnee into his family system. Four sets of data were considered: (1) background characteristics of husband and wife; (2) indices of family preparedness; (3) returnees' prison experiences and their psychiatric status; (4)…
This study examined the knowledge level, attitude to and the practice of Family Planning among Airmen in Nigeria. It was hypothesized that knowledge of Family Planning, number of children and religion affect the use of Family planning. The study also identified socio-demographic variables and other factors associated ...
This paper reports on a workshop held at the 19th National Family Practitioners Conference in August 2016. The aim of the workshop was to describe possible future scenarios for the discipline of family medicine in South Africa and identify possible options for action. The workshop led a group of 40 family physicians from ...
How is the balance in obligations between the Family and the Danish Welfare State? Can we observe a trend to shift the responsibility back to the family? This booklet intends to sketch the legal framework around the division of responsibilities between the Family and the state and to analyse...... to what extent and where the unit of rights and obliagations is the individual and where it is the family or household....
Hayman, Brenda; Wilkes, Lesley
The aim of this recent Australian study was to explore the experiences of lesbian women choosing motherhood. Participants included 30 self-identifying lesbian mothers. Data were collected via interviews, data collection sheets, and online journaling. The interview and journaling data were analyzed using constant comparative analysis and subsequently illuminated three main themes: becoming mothers, constructing motherhood, and legitimizing our family. These papers described the journey to motherhood and specifically explored the various methods of conception and other decisions that participants made when planning their family, the challenge of heteronormativity in health care, and legitimizing the role of the non-birth mother in de novo families. This article aims to present the participants' experiences of motherhood that was a constant topic found woven throughout all three of the identified themes. Participants identified that they had a unique opportunity to create their own mothering roles in the absence of significant "lesbian mother" role models and that they were able to adjust and to adapt their roles depending on fluctuating circumstances.
Browne, Dillon T.; Wade, Mark; Prime, Heather; Jenkins, Jennifer M.
There is an ongoing need for literature that identifies the effects of broad contextual risk on school readiness outcomes via family mediating mechanisms. This is especially true amongst diverse and urban samples characterized by variability in immigration history. To address this limitation, family profiles of sociodemographic and contextual risk…
Ellis, J J; Inbody, D R
Personality attributes typically found in successful physicians can lead to difficulties in family life. This paper identifies physicians' positive characteristics and demonstrates with case-history material how these characteristics can contribute to interactional problems with family members. Ways of engaging physicians in treatment and avoiding some of the common pitfalls in working with this group are discussed.
Rosman, B L; Minuchin, S; Liebman, R
Family lunch sessions have proved a useful diagnostic and therapeutic technique in the treatment of anorexia nervosa. This paper describes the goals of these sessions and the strategies employed in the restructuring of family relationships. Data are presented illustrating changes in eating behavior of eight identified patients.
Harun, Lily Mastura Haji
Rurality has often been equated as to being backwards and non-promising to provide for a bright future. This study aims to identify the levels of self-concept, family concept, and family interaction measures of subjects from the rural and urban social settings of a state in Malaysia. Six hundred and thirty-nine (or two hundred and thirteen…
Full Text Available Family interventions have produced benefits on clinical and family outcomes in long standing psychosis. However, little is known about the efficacy of such interventions in the early stages of psychosis. This article reviews published research over the last two decades on family intervention in first-episode psychosis. Electronic databases, such as PubMed, PsycINFO, and ScienceDirect, have been systematically searched. In addition, an exhaustive Internet search was also carried out using Google and Google Scholar to identify the potential studies that evaluated family interventions in first-episode psychosis. We have identified seven reports of five randomized controlled trials (RCTs and five non-randomized and uncontrolled studies of family intervention. Our review on 12 reports of family intervention studies has shown mixed effects on outcomes in first-episode psychosis. Most of the reports showed no added benefits or very short-term benefits on primary clinical or family outcome variables. There is a dearth of family intervention studies in first-episode psychosis. More RCTs are needed to reach reliable conclusions.
Khamis, Abdullah M.
Motivation: The increased prevalence of multi-drug resistant (MDR) pathogens heightens the need to design new antimicrobial agents. Antimicrobial peptides (AMPs) exhibit broad-spectrum potent activity against MDR pathogens and kills rapidly, thus giving rise to AMPs being recognized as a potential substitute for conventional antibiotics. Designing new AMPs using current in-silico approaches is, however, challenging due to the absence of suitable models, large number of design parameters, testing cycles, production time and cost. To date, AMPs have merely been categorized into families according to their primary sequences, structures and functions. The ability to computationally determine the properties that discriminate AMP families from each other could help in exploring the key characteristics of these families and facilitate the in-silico design of synthetic AMPs. Results: Here we studied 14 AMP families and sub-families. We selected a specific description of AMP amino acid sequence and identified compositional and physicochemical properties of amino acids that accurately distinguish each AMP family from all other AMPs with an average sensitivity, specificity and precision of 92.88%, 99.86% and 95.96%, respectively. Many of our identified discriminative properties have been shown to be compositional or functional characteristics of the corresponding AMP family in literature. We suggest that these properties could serve as guides for in-silico methods in design of novel synthetic AMPs. The methodology we developed is generic and has a potential to be applied for characterization of any protein family.
Suggests that, although a young woman who has been sexually assaulted may experience pain and alienation as an individual, family members also experience trauma, often left unresolved while retaining an impact on the family's ability to function. Introduces family therapy as a desirable approach to treatment of the rape victim. (Author/JAC)
Gaugler, Joseph E.; Kane, Robert L.
Purpose: Despite growing research on assisted living (AL) as a residential care option for older adults, the social ramifications of residents' transitions to AL are relatively unexplored. This article examines family involvement in AL, including family structures of residents, types of involvement from family members living outside the AL…
Nock, Steven L.
Cites literature supporting view that as adults, children from single-parent families have less success in school, lower earnings, and lower occupational prestige than children from intact, two-parent families. Proposes that one reason why children from one-parent families achieve less as adults is that they lack exposure to hierarchical models of…
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California Agriculture, 1994
This special issue focuses on problems and challenges confronting the California family and on research and extension efforts to provide at least partial answers. Research briefs by staff include "Challenges Confront the California Family" (state trends in poverty, divorce, single-parent families, child abuse, delinquency, teen births,…
Kranichfeld, Marion L.
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…
Thomas, Darwin L., Ed.
Examines religion's place in the social sciences, reciprocal influences of family and religion, cohesion/polarization in American Catholic families, religion in Middletown, USA, gender and religion in Canadian and American students, domestic/religious individualism and suicide, and the New Christian Right's view of the family. (BH)
Howes, Michael (Sussex Univ., Brighton (UK). Inst. of Development Studies)
This paper analyses data from the Sri Lankan Forestry Master Plan and other sources, to explore the causes of biomass shortages, and to identify the areas where interventions are likely to have most impact. Five districts, concentrated in the wet lowland and hill country zones, are found to be in overall biomass fuel deficit whilst in a further five, which include dry zone locations, fuelwood consumption exceeds potential supply, Within the area of overall deficit, poorer urban groups and rural families with no home gardens - who together comprise 15% of all households nationally - are affected most severely. Another 10% of households are likely to suffer to a lesser extent. (author).
Full Text Available The family is often identified as the place where the future of society is guaranteed or destroyed. As the current family is obviously shifting in many regards in contemporary society the traditional educational responsibilities of the family are challenged. The educational mission of the family supposes intensive and ongoing work with the parents. What parents experience and learn becomes the living source for the pedagogical journey with their children. The author of this article explores various aspects of the new situation of education within the family in XXI century. He also reconsiders the challenges, concepts and contribution of the family in the educational mission in a contemporary European context.
Schneiderman, Gerald; Barrera, Maru
Currently, traditional family values that have been passed down through generations appear to be at risk. This has significant implications for the stability and health of individuals, families, and communities. This article explores selected issues related to intergenerational transmission of family values and cultural beliefs, with particular reference to Western culture and values that are rooted in Jewish and Christian traditions. It also examines family values and parenting styles as they influence the developing perspective of children and the family's adaptation to a changing world.
Full Text Available In this review we have aimed to focus on the clinical management of familial melanoma patients and their relatives. Along this line three major topics will be discussed: (1 management/screening of familial melanoma families: what is advised and what is the evidence thereof; (2 variability of families worldwide with regard to clinical phenotype, including cancer spectrum and likelihood of finding germline mutations and (3 background information for clinicians on the molecular biology of familial melanoma and recent developments in this field.
Gaff, Clara L
This article is the first in a series of seven which examine competence standards for nurses, midwives and health visitors in relation to genetics. The author indicates who might benefit from a genetic consultation and describes the use of a family history--in the form of a family tree--to identify these clients. Client expectations of a genetic consultation and managing these are also discussed.
Kim, Suk-Sun; Kim-Godwin, Yeoun Soo; Koenig, Harold G
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.
Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T.; O'Neill, Suzanne M.; Rubinstein, Wendy S.; Acheson, Louise S.
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
Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco
show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We......This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...
Eaton, Phyllis M.; Davis, Bertha L.; Hammond, Pamela V.; Condon, Esther H.; McGee, Zina T.
This exploratory research paper investigated the coping strategies of families of hospitalized psychiatric patients and identified their positive and negative coping strategies. In this paper, the coping strategies of 45 family members were examined using a descriptive, correlational, mixed method research approach. Guided by the Neuman Systems Model and using the Family Crisis Oriented Personal Evaluation Scales and semistructured interviews, this paper found that these family members used m...
de Souza, Alessandra; Pelegrini, Tamara Dos Santos; Ribeiro, João Henrique de Morais; Pereira, Daniele Sirineu; Mendes, Maria Angélica
to identify the attributes of the "family insufficiency" concept of the aged in the literature. critical literature analysis. family insufficiency is characterized as a complex process of psychosocial interaction, founded mainly on low social support of the aged and impaired family ties. Its antecedents are found in contemporary transformations within the family system, intergenerational conflicts, impaired family relationships and social vulnerability of the family. The consequences of family insufficiency include social vulnerability of the aged, decline of psychological and functional health, lower quality of life and unsuccessful aging. An original theoretical proposal was elaborated for the concept of family insufficiency in the elderly, with the identification of its attributes, antecedents and consequences. the findings of this study constitute a theoretical advancement in the Family Insufficiency Syndrome in elderly people and provide data for future field research in developing the concept.
Smit, Eileen M
The purpose of this study was to identify and describe the health care experiences of families with an internationally adopted child. Content analysis of data from 107 adoptive parents was used to identify themes that characterized health care experiences of the families. Four themes were identified: a) Coming home: Like a lobster thrown into a boiling pot; b) Vigilance: Is my child healthy today? Will my child be healthy tomorrow?; c) Unique health care needs of international adoption families: We are different; and d) Importance of support by health care providers: Do they know or care? Health care providers need to be aware of the unique experiences of the increasing number of international adoption families. The themes identified provide insight into the health care experiences of international adoption families and the crucial role of health care providers in helping international adoption families feel supported on their journey.
Creusa Ferreira da Silva
Full Text Available Objectives: To identify educational practices in family planning, facilitating factors, difficulties and resulting impacts. Method: This is an integrative literature review, using the three descriptors: "family planning", "health education" and "contraception"; In the databases of the Scientific Electronic Library Online (SciELO, Latin American and Caribbean Literature in Health Sciences (LILACS and Nursing Database (BDENF, were searched in January and February 2016. Results: Regarding the accomplishment of educational practices, most of the studies pointed out its accomplishment. The difficulties and facilitators aspects were related to the management of the health service, professional competence and users. Guarantee of family rights and autonomy were the impacts pointed out. Conclusion: The study showed that educational practices in family planning are tools to be encouraged as a guarantee and respect for sexual and reproductive rights. Descriptors: family planning; education in health; contraception.
Gerber, Gwendolyn L.
The diagnosis and evaluation of families applying for family therapy is necessary to identify problems in their relationships that can be effectively integrated into treatment. In the Family Distance Doll Placement technique, a diagnostic tool for assessing patterns of closeness and distance within the family, parents are asked to make up stories…
Jarrett, Robin L.; Coba-Rodriguez, Sarai
Researchers have examined the impact of family on child literacy among low-income African American families and preschoolers considered to be at risk for not being ready for kindergarten. Quantitative studies identify family-parental variables associated with poorer literacy outcomes, whereas qualitative studies detail family practices that…
Berent-Braun, M.M.; Uhlaner, L.M.
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
Slade, Steve; Ross, Shelley; Lawrence, Kathrine; Archibald, Douglas; Mackay, Maria Palacios; Oandasan, Ivy F.
Abstract Objective To examine trends in family medicine training at a time when substantial pedagogic change is under way, focusing on factors that relate to extended family medicine training. Design Aggregate-level secondary data analysis based on the Canadian Post-MD Education Registry. Setting Canada. Participants All Canadian citizens and permanent residents who were registered in postgraduate family medicine training programs within Canadian faculties of medicine from 1995 to 2013. Main outcome measures Number and proportion of family medicine residents exiting 2-year and extended (third-year and above) family medicine training programs, as well as the types and numbers of extended training programs offered in 2015. Results The proportion of family medicine trainees pursuing extended training almost doubled during the study period, going from 10.9% in 1995 to 21.1% in 2013. Men and Canadian medical graduates were more likely to take extended family medicine training. Among the 5 most recent family medicine exit cohorts (from 2009 to 2013), 25.9% of men completed extended training programs compared with 18.3% of women, and 23.1% of Canadian medical graduates completed extended training compared with 13.6% of international medical graduates. Family medicine programs vary substantially with respect to the proportion of their trainees who undertake extended training, ranging from a low of 12.3% to a high of 35.1% among trainees exiting from 2011 to 2013. Conclusion New initiatives, such as the Triple C Competency-based Curriculum, CanMEDS–Family Medicine, and Certificates of Added Competence, have emerged as part of family medicine education and credentialing. In acknowledgment of the potential effect of these initiatives, it is important that future research examine how pedagogic change and, in particular, extended training shapes the care family physicians offer their patients. As part of that research it will be important to measure the breadth and uptake of
Schultz, Jerelyn B.; Adams, Donna U.
Administered 50 needs statements to 134 minimally and mildly mentally disabled adolescent students to identify their family life education needs as a basis for curriculum development. Identified six clusters or groups of family life education needs: Basic Nutrition, Teenage Pregnancy, Sex Education, Developmental Tasks of Adolescents, Marriage and…
Wirsching, M; Stierlin, H
Family therapy of psychosomatic disorders is oftern difficult and comparable to the therapy of psychotic patients. Nonetheless, the results published today by authors such as Minuchin and Selvini and our own experiences are promising indeed. We have found that what seemed to be a deep-rooted psychic structure changed rapidly and enduringly if the relationship field changed. Amelioration of symptoms is in many cases easily attained if they are understood in their function within a relational system. Also, we regard the system or family approach as a chance for medical practice. The general practioner who usually deals with family systems has, in our view, an ideal position to bring about change if he uses his authority and trust properly. He has to obtain a positive, not pathology-oriented view and should use family and social resources in spite of engaging in an often fruitless and endless contact with the designated patient, which only serves to maintain and even to increase the homeostatic lock of the family system.
... Which country/region your family originally came from (Ireland, Germany, Eastern Europe, Africa, and so on) Ask these same questions about any relatives who have died. How Will a Family History Help You and Your Family? Share your family ...
Dressel, Paula L.; Avant, W. Ray
This paper analyzes 12 contemporary textbooks in family sociology for their portrayal of older families and older family members. Recommendations are made with regard to both the content and the context of materials on aging families in sociology textbooks. (Author)
The present thesis investigated family history and neurobiology of social phobia. Social phobia is a disabling disorder characterized by a marked fear of scrutiny in a variety of social situations. By using a validated questionnaire, study I related family history of excessive social anxiety to social phobia and avoidant personality disorder in epidemiologically identified probands in the Swedish general population. A two- to threefold increased relative risk of social anxiety was observed fo...
Canter, P. H.; Brown, L. B.; Greaves, C.; Ernst, E.
Johrei is a form of spiritual healing comprising “energy channelling” and light massage given either by a trained healer or, after some basic training, by anyone. This pilot trial aimed to identify any potential benefits of family-based Johrei practice in childhood eczema and for general health and to establish the feasibility of a subsequent randomised controlled trial. Volunteer families of 3-5 individuals, including at least one child with eczema were recruited to an uncontrolled pilot t...
Lima-Rodríguez, Joaquín Salvador; Baena-Ariza, María Teresa; Domínguez-Sánchez, Isabel; Lima-Serrano, Marta
To examine the influence of a child or adolescent with intellectual disabilities on the family unit. A systematic review of the literature, following the recommendations of the PRISMA statement, was carried out on the PubMed, Scopus, CINAHL, PsycINFO and Psicodoc databases. Original articles were found, published in the last 5 years, in Spanish, English, Portuguese, Italian or French, with summary and full text and satisfactory or good methodological quality. Two independent researchers agreed on their decisions. In general, care is provided in the family, mothers assume the greater responsibility, and their wellbeing is lower than that of fathers. Having the support of the husband improves their quality of life. The fraternal subsystem can be affected, with regard to the warmth and the status/power of the relationship, and behavioural problems. Family health may be affected in all its dimensions: family functioning and atmosphere due to increased demands and changes in the organisation and distribution of roles; family resilience and family coping, due to rising costs and dwindling resources; family integrity could be strengthened by strengthened family ties. Quality of family life is enhanced by emotional support. These families may need individualised attention due to the increased demand for care, diminishing resources or other family health problems. Nurses using a family-centred care approach can identify these families and help them to normalise their situation by promoting their family health and the well-being of its members. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.
Cassandra Borges Bortolon
Full Text Available Abstract Substance abuse affects both the user and the family system as a whole, yet substance abuse treatment is centered on the user, leaving the family in the background. Objective: To identify the symptoms of codependency and health issues in the codependent family members of drug users who called a toll-free telephone counseling service. In total, 505 family members participated in this cross-sectional study. Drug users’ mothers and wives who had less than 8 years of education and those who were unemployed had a greater chance of high codependency. It was also determined that a high level of codependency imposed a significant burden on the physical and emotional well-being of those affected, resulting in poor health, reactivity, self-neglect and additional responsibilities. It was concluded that codependency has a negative impact on the family system and on the health of the family members of drug users.
Howe, Tami; Davidson, Bronwyn; Worrall, Linda; Hersh, Deborah; Ferguson, Alison; Sherratt, Sue; Gilbert, Jocelyn
Aphasia affects family members in addition to the individuals with the communication disorder. In order to develop appropriate services for the relatives of people with aphasia post-stroke, their rehabilitation goals need to be identified. The aim of the current investigation was to identify the rehabilitation goals that family members of individuals with aphasia have for themselves. Forty-eight family members of adults with aphasia post-stroke participated in in-depth semi-structured interviews to identify the rehabilitation goals they had for themselves. All the interviews were transcribed verbatim and analysed using qualitative content analysis. Analysis revealed seven categories of goals that the family members had for themselves: to be included in rehabilitation, to be provided with hope and positivity, to be able to communicate and maintain their relationship with the person with aphasia, to be given information, to be given support, to look after their own well-being, and to be able to cope with new responsibilities. A few participants reported that, at certain times during the rehabilitation process, they did not have any goals for themselves. This study highlights that family members of individuals with aphasia have a number of aphasia-related rehabilitation goals for themselves. In order to provide a family-centred approach to rehabilitation, health professionals, including speech-language pathologists, need systematically to identify and address family members' goals in light of the categories revealed in this investigation. © 2012 Royal College of Speech and Language Therapists.
This article identifies the burgeoning field of positive psychology as an important extension to the knowledge base of family nursing. Representing a new emphasis from the traditional social and human sciences, which have largely focused on problem- and deficit-based approaches, positive psychology focuses on optimal functioning and is an ideal complement to the strengths-based orientation of family nursing. Domains of positive psychology are presented and exemplars of supporting research offered. Finally, suggestions are given for ways to apply concepts from positive psychology to family nursing practice, research, and education.
Kataoka-Yahiro, Merle; Ceria, Clementina; Caulfield, Rick
The grandparenting caregiving role in ethnically diverse families has not been well defined and described in the present literature. The goals of this article are to (a) synthesize what is known about the grandparent caregiving role in ethnically diverse families in the context of the African-American, Hispanic, and Asian-American families and (b) identify gaps in knowledge to guide future research, education, and practice in this area of study. A narrative approach was used to review the literature from 1980 to 2003 and a descriptive summary of the literature is provided with a discussion of the research methods and salient findings.
Brown, J B; Blackwell, L F; Billings, J J; Conway, B; Cox, R I; Garrett, G; Holmes, J; Smith, M A
It is now well accepted that a woman can conceive from an act of intercourse for a maximum of only about 7 days of her menstrual cycle. The reliability of natural family planning depends on identifying this window of fertility without ambiguity. Several symptomatic markers, cervical mucus and basal body temperature, have been used extensively and with considerable success in most women but failures occur. Ovarian and pituitary hormone production show characteristic patterns during the cycle. Urinary estrogen and pregnanediol measurements yield reliable information concerning the beginning, peak, and end of the fertile period, provided that the assays are accurate and performed on timed specimens of urine. We have developed such enzyme immunoassays for urinary estrogen and pregnanediol glucuronides that can be performed at home. In the early versions of the assays, enzyme reaction rates were measured by eye, but more recently, a simple photoelectronic rate meter has been used. The final problem to be solved is not technologic but whether women are sufficiently motivated to expend the same time and effort each day for 10 days a month, with less cost, on fertility awareness as they spend on making a cup of tea.
Fiese, Barbara H
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).
Boyd, Britta; Hollensen, Svend; Goto, Toshio
This article focuses on the international joint venture formation process of family businesses. The reasoning behind Danfoss’ decision to cooperate with two competing family businesses in Japan and China as well as two nonfamily businesses in Canada and Britain will be analysed. In......-depth qualitative interviews reveal the driving forces on both sides and show how the psychic distance can be reduced between the different parent firms including the joint venture (JV) child. The purpose of this study is to compare equal split or equity joint ventures of non-family and family firms regarding...... the formation process including competences and cultures. The study indicates what core competences of a family business matter when cooperating in equal split joint ventures. Implications for family business owners and ideas for future research are discussed....
Pettengill, Myriam Aparecida Mandetta; Angelo, Margareth
This study aimed to develop the concept of family vulnerability. Data were collected through Qualitative Concept Analysis, which involves two phases. In the first, theoretical phase, data from literature were used for identification of the theoretical attributes of the concept. In the second, field phase, data were collected by means of observations and interviews with twelve families going through the experience of a child's disease and hospitalization. Symbolic Interactionism was used as a theoretical framework, which supported Grounded Theory, applied to guide data collection and analysis in the field phase. As a result of phase II, a theoretical model was built, whose central category defines family vulnerability as FEELING THREATENED IN THEIR AUTONOMY, due to the interactions between family members, illness and health team. The comparison between the two analyses allowed for a theoretical proposition of family vulnerability and advances in terms of theoretical knowledge on family nursing.
Bennett, L A
During the 1970s and 1980s a small but rich tradition of anthropological and sociological studies of family culture, cultural context, and alcohol has developed. Ideally, ethnographic analysis of a cultural group and in-depth holistic examination of family process are incorporated in such research. In conducting family, culture, and alcohol investigations, researchers are encouraged to reexamine some conceptual assumptions: (1) their working definition of culture; (2) their relative emphasis on family culture or cultural context; (3) their attention to socialization as an active process in the transmission of culture within and across generations; and (4) their adoption of a holistic and cross-generational perspective. To apply this line of research to preventive and intervention strategies, two questions are especially relevant: Why are particular alcohol traditions established and maintained within families? What incentives and constraints from the family's cultural context help create, preserve, and/or terminate particular drinking practices?
Terzis, A I
The purpose of the present study is to investigate the association between certain family characteristics and schizophrenia. In order to examine the proposal, 404 schizophrenic patients (201 males and 203 females) from 5 psychiatric hospitals situated in the great metropolitan area of São Paulo were observed. The majority of the patients came from families very poor (85.74%). Over half the patients came from families of 4 to 8 siblings, and the average number of children per mother in those families was significantly higher (6.60) in comparison with the average figure for the population in general (4.65). Regarding the family disruption in about 55% of the cases this factor was present. As to the age of the patients at the family breakup, the majority of the subjects studied ranged from 0 to 3 years of age.
Hansen, Maria; Walmod, Peter Schledermann
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......, whereas vertebrates contain two to four genes. In cnidarians, the gene appears to encode a secreted protein, but transmembrane isoforms of the protein have also evolved, and in many species, alternative splicing facilitates the expression of both transmembrane and secreted isoforms. In most species......, 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...
Nieuwenhuis, Marry H; Lefevre, Jérémie H; Bülow, Steffen
Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.......Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice....
Full Text Available Essential problem of the research is an attempt that is to show some selected aspects of changes taking place in modern family. Economical and social ones- last decades' cultural transformations have been democratizing inner lives of families, reorganizing the arrangement of forces which work in them, affecting on development of autonomous individual idea, more and more recreating the ideas which are dominant in both political and social life: democracy, liberalism or individualism. In Polish modern society coexist different family models: post-traditional, modernistic and post-modern one. Basing on the studies with ethnographical character, in free narrations I try to identify the factors of functioning of families that constitute particular family model. An important goal is “careful listening” to the narration in such a special way to find out about the determinants of family chances and risks during the process of accommodation to new reality. The research focused on matters which concerned: organizing a family life, parental relationships, relations between parents and their child and the problem of communication character. Presentation of pictures from family life, experienced successes and difficulties allow to look into the families' present problems and to draw a life panorama of Polish families
Full Text Available Amphipod crustaceans were collected at all 55 stations sampled with an epibenthic sledge during two IceAGE expeditions (Icelandic marine Animals: Genetics and Ecology in 2011 and 2013. In total, 34 amphipod families and three superfamilies were recorded in the samples. Distribution maps are presented for each taxon along with a summary of the regional taxonomy for the group. Statistical analyses based on presence/absence data revealed a pattern of family distributions that correlated with sampling depth. Clustering according to the geographic location of the stations (northernmost North Atlantic Sea and Arctic Ocean can also be observed. IceAGE data for the Amphilochidae and Oedicerotidae were analysed on species level; in case of the Amphilochidae they were compared to the findings from a previous Icelandic benthic survey, BIOICE (Benthic Invertebrates of Icelandic waters, which also identified a high abundance of amphipod fauna.
In response to a recent influx of Vietnamese refugees and their settlement in Kai Tak camp the Family Planning Association of Hong Kong (FPAHK) promoted family planning and supplied contraceptives. FPAHK field workers organized film shows and talks on family planning on 3 consecutive days for 4000 refugees. Most of the refugees were transferred to the Shamshuipo camp to await resettlement in foreign countries. The FPAHK have begun recruiting acceptors in that camp.
Shapiro, Ditte Krogh
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...... 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....
Rasmussen, Andreas H; Rasmussen, Hanne B; Silahtaroglu, Asli
in the postsynapse, the DLGAP family seems to play a vital role in synaptic scaling by regulating the turnover of both ionotropic and metabotropic glutamate receptors in response to synaptic activity. DLGAP family has been directly linked to a variety of psychological and neurological disorders. In this review we...... downstream signalling in the neuron. The postsynaptic density, a highly specialized matrix, which is attached to the postsynaptic membrane, controls this downstream signalling. The postsynaptic density also resets the synapse after each synaptic firing. It is composed of numerous proteins including a family...... focus on the direct and indirect role of DLGAP family on schizophrenia as well as other brain diseases....
Boyd, Britta; Hollensen, Svend; Goto, Toshio
-depth qualitative interviews reveal the driving forces on both sides and show how the psychic distance can be reduced between the different parent firms including the joint venture (JV) child. The purpose of this study is to compare equal split or equity joint ventures of non-family and family firms regarding...... the formation process including competences and cultures. The study indicates what core competences of a family business matter when cooperating in equal split joint ventures. Implications for family business owners and ideas for future research are discussed....
Full Text Available Following an episode of typical transient global amnesia (TGA, a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The study of familial TGA cases might facilitate the understanding of TGA aetiology.
Greeff, Abraham Petrus; Vansteenwegen, Alfons; Geldhof, Annelies
The aim of this study was to identify and explore resilience factors associated with family adaption after a child had been diagnosed with cancer. Using a cross-sectional survey research design, parents (n = 26), and children (n = 25) from the same families independently completed six self-report questionnaires, as well as responded to an open-ended question about those qualities that helped their family through the period following the diagnosis. The most significant results came from the children's data. According to these results, connectedness within the family, the experience of control over life events, family routines, positive, and supportive communication, redefinition of crisis situations, and lastly, a passive appraisal of crisis situations, were positively linked to better family adaptation. The identified factors should be strengthened and developed in families finding themselves in a similar situation.
Aljbaae, S.; Carruba, V.; Masiero, J. R.; Domingos, R. C.; Huaman, M.
The Rafita asteroid family is an S-type group located in the middle main belt, on the right-hand side of the 3J:-1A mean-motion resonance. The proximity of this resonance to the family left-hand side in the semimajor axis caused many former family members to be lost. As a consequence, the family shape in the (a, 1/D) domain is quite asymmetrical, with a preponderance of objects on the right-hand side of the distribution. The Rafita family is also characterized by a leptokurtic distribution in inclination, which allows the use of methods of family age estimation recently introduced for other leptokurtic families such as Astrid, Hansa, Gallia and Barcelona. In this work, we propose a new method based on the behaviour of an asymmetry coefficient function of the distribution in the (a, 1/D) plane to date incomplete asteroid families such as Rafita. By monitoring the time behaviour of this coefficient for asteroids simulating the initial conditions at the time of the family formation, we were able to estimate that the Rafita family should have an age of 490 ± 200 Myr, in good agreement with results from independent methods such as Monte Carlo simulations of Yarkovsky and YORP dynamical induced evolution and the time behaviour of the kurtosis of the sin (I) distribution. Asteroids from the Rafita family can reach orbits similar to 8 per cent of the currently known near-Earth objects. During the final 10 Myr of the simulation, ≃1 per cent of the simulated objects are present in NEO space, and thus would be comparable to objects in the present-day NEO population.
Schuler, Tammy A; Zaider, Talia I; Li, Yuelin; Masterson, Melissa; McDonnell, Glynnis A; Hichenberg, Shira; Loeb, Rebecca; Kissane, David W
Screening and baseline data on 170 American families (620 individuals), selected by screening from a palliative care population for inclusion in a randomized controlled trial of family-focused grief therapy, were examined to determine whether family dysfunction conferred higher levels of psychosocial morbidity. We hypothesized that greater family dysfunction would, indeed, be associated with poorer psychosocial outcomes among palliative care patients and their family members. Screened families were classified according to their functioning on the Family Relationships Index (FRI) and consented families completed baseline assessments. Mixed-effects modeling with post hoc tests compared individuals' baseline psychosocial outcomes (psychological distress, social functioning, and family functioning on a different measure) according to the classification of their family on the FRI. Covariates were included in all models as appropriate. For those who completed baseline measures, 191 (30.0%) individuals were in low-communicating families, 313 (50.5%) in uninvolved families, and 116 (18.7%) in conflictual families. Family class was significantly associated (at ps ≤ 0.05) with increased psychological distress (Beck Depression Inventory and Brief Symptom Inventory) and poorer social adjustment (Social Adjustment Scale) for individual family members. The family assessment device supported the concurrent accuracy of the FRI. As predicted, significantly greater levels of individual psychosocial morbidity were present in American families whose functioning as a group was poorer. Support was generated for a clinical approach that screens families to identify those at high risk. Overall, these baseline data point to the importance of a family-centered model of care. Copyright © 2017 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.
Eun Ju eSon
Full Text Available Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC and follicular thyroid carcinomas (FTC compose 95% of all thyroid malignancies. Familial follicular cell-derived well-differentiated thyroid cancers contribute to 5% of those cases. These familial follicular cell derived carcinomas or non-medullary thyroid carcinomas (NMTC divide into two clinical-pathological groups. One group, syndromic-associated, composed by predominately non-thyroidal tumors, is comprised of Pendred syndrome, Warner syndrome, Carney complex type 1, PTEN-hamartoma tumor syndrome (Cowden disease; PHTS, familial adenomatous polyposis (FAP/Gardner syndrome. Additionally other less established links correlated to the development of follicular cell-derived tumors have also included Ataxia-teleangiectasia syndrome, McCune Albright syndrome, and Peutz-Jeghers syndrome. The subsequent group encompasses syndromes typified by non-medullary thyroid carcinomas or NMTC, as well as, pure familial (f PTC with or without oxyphilia, fPTC with multinodular goiter and fPTC with papillary renal cell carcinoma. This heterogeneous group of diseases has not a established genotype-phenotype correlation as the well-known genetic events identified in the familial C-cell-derived tumors or medullary thyroid carcinomas (MTC. Clinicians should be have the knowledge to identify the likelihood of a patient presenting with thyroid cancer having an additional underlying familial syndrome stemming from characteristics through morphological findings that would alert the pathologist to have the patient undergo subsequent molecular genetics evaluations. This review will discuss the clinical and pathological findings of the patients with familial papillary thyroid carcinoma, such as familial adenomatous polyposis, Carney complex, Werner syndrome, and Pendred syndrome and the heterogeneous group of familial papillary thyroid carcinoma.
Maxwell, Susannah J; Molster, Caron M; Poke, Samantha J; O'Leary, Peter
To explore the views of the Western Australian community on cascade screening for familial hypercholesterolemia (FH), focusing on the desire of relatives to be informed about a familial risk, the acceptability of being informed by family or by health professionals, and preferences around how this information is shared. A cross-sectional computer assisted telephone interviewing (CATI) survey was employed, and 430 respondents were recruited randomly from the electronic version of the Western Australian telephone directory. Interviews were conducted in June 2008 and had a response rate of 75%. Most respondents (93%) indicated a desire to be informed about their familial risk of FH. Of these, 91% desired to be informed by their relative, 77% by the health clinic involved in the FH screening program, and 95% indicated a desire to be offered screening for the condition. Women aged 18-54 years were more likely to report a preference for being informed by their relative. The odds of reporting a high likelihood of attending the program health clinic for testing were significantly lower among men aged 18-54 years. If contacted by the program health clinic, 1 in 3 respondents found it unacceptable to not be told their relative's name. This study provides evidence of community support for FH cascade screening programs that adopt a policy of "direct contact," where program staff contact the relatives of the index cases and inform them of their familial risk. Maximizing community support for the screening program may require that index cases give consent to include their personal details when the initial contact is made with their relatives. It may also require special consideration of how younger members of the community are contacted and encouraged to participate in the screening programs.
Sajid Hussain, M; Bakhtiar, Syeda Marriam; Farooq, Muhammad
Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational...... mutation. One third of the families were linked to ASPM followed by WDR62 confirming previous data. We identified three novel ASPM mutations, four novel WDR62 mutations, one novel MCPH1 mutation and two novel CEP152 mutations. CEP152 mutations have not been described before in the Pakistani population....
South African Family Practice(SAFP) is a peer-reviewed scientific journal, which strives to provide primary care physicians and researchers with a broad range of scholarly work in the disciplines of Family Medicine, Primary Health Care, Rural Medicine, District Health and other related fields. SAFP publishes original ...
Original title: Gezinsrapport 2011. Between 2007 and 2010 the Netherlands had its first ever Minister for Youth and Family. The position of the family in modern society is a subject of considerable debate, not just at political and policy level, but also in society itself. Voices are
Zero to Three (J), 2003
In this article, seven families describe their experiences giving birth to and raising a premature baby. Their perspectives vary, one from another, and shift over time, depending on each family's circumstances and the baby's developmental course. Experiences discussed include premature labor, medical interventions and the NICU, bringing the baby…
Plugge, C.M.; Zoetendal, E.G.
The family Victivallaceae is a member of the order Victivallales and holds only two cultured representatives: Victivallis vadensis strain CelloT and the uncharacterized strain NML 080035. They are Gram-negative, nonmotile, and anaerobic. Within the family as well as the order, cloned 16S rRNA gene
Administration for Children, Youth, and Families (DHHS), Washington, DC.
Utah's Department of Human Services' Family Reunification Project was initiated to demonstrate that intensive, time-limited, home-based services would enable children in foster care to return to their natural families more rapidly than regular foster care management permits. The following steps were taken in project development: (1) sites were…
... is essential, it is equally important for parents to set aside some time just for themselves, too. Additional Information from HealthyChildren.org: Turning Family Time into Active Time Bedtime Routines for School-Aged Children The Benefits & Tricks to Having a Family Dinner Article Body Last Updated ...
Goldstein, Lou Ann
Family involvement is essential to the developmental outcome of infants born into Neonatal Intensive Care Unit (NICU). In this article, evidence has been presented on the parent's perspective of having an infant in the NICU and the context of family. Key points to an educational assessment are also reviewed. Throughout, the parent's concerns and…
Presents a model of brief therapy with families allowing the therapist to develop a cognitive map of triadic interaction with a completeness which words alone cannot capture. The family is viewed as an interlocking system of interdependent relationships. Case material illustrates the use of this model in changing dysfunctional patterns. (Author)
The Family Constellation Scale (FC Scale) is an instrument that assesses perceived birth order in families. It can be used in counseling to help initiate conversations about various traits and assumptions that tend to characterize first-born, middle-born children, youngest-born, and only children. It provides both counselors and clients insights…
Lewit, Eugene M.; Baker, Linda Schuurmann
Available data on homeless families and children are reviewed, focusing on definitions of homelessness and the most common methods used to estimate the size of the homeless population. Trends in the duration of homelessness and the numbers of families at risk of losing housing are discussed. (SLD)
Phyllis M. Eaton
Full Text Available This exploratory research paper investigated the coping strategies of families of hospitalized psychiatric patients and identified their positive and negative coping strategies. In this paper, the coping strategies of 45 family members were examined using a descriptive, correlational, mixed method research approach. Guided by the Neuman Systems Model and using the Family Crisis Oriented Personal Evaluation Scales and semistructured interviews, this paper found that these family members used more emotion-focused coping strategies than problem-focused coping strategies. The common coping strategies used by family members were communicating with immediate family, acceptance of their situation, passive appraisal, avoidance, and spirituality. The family members also utilized resources and support systems, such as their immediate families, mental health care professionals, and their churches.
Full Text Available In family firms, the business and the family are two arenas in which processes significantly overlap and influence management. The present paper investigates the overlap of the family system and the business through the use of culture. Adopting an idiographic approach and recognising the unique psychodynamic process of family business (FB, this study aims to identify the cultural patterns within the FB, starting from what families define as a family, b business and, c the generational change. Twenty-five family firms were considered during the generational change. The results show how and when this overlap takes shape pointing out how the role of family tradition can became a critical or success factor for the business.
Heiselberg, Maj Hedegaard
The article explores how military deployment affects the everyday lives of Danish soldiers’ families. By approaching the challenges faced by soldiers and their partners from an anthropological perspective of the family, the article provides new insights into the social consequences of military...... deployment and the processes of militarization at home. Drawing on ethnographic examples from recent fieldwork among women, children, and soldiers at different stages of deployment, the article demonstrates how soldiers and their families attempt to live up to ideals about parenthood and family by creating...... ‘relational spaces’ that allow them to preserve intimate relationships despite geographical distances. Besides dealing with the practical responsibilities of everyday life, soldiers’ partners also fight to maintain the sense of closeness associated with normative ideals about family relations and a ‘good...
Albrechtslund, Anders; Bøge, Ask Risom; Sonne Damkjær, Maja
This presentation explores the question: What motivates the use of tracking technologies in families, and how does the use transform the relations between parent and child? The purpose is to investigate why tracking technologies are used in families and how these technologies potentially change...... the relation between parents and children. The use of tracking technologies in families implicate negotiations about the boundaries of trust and intimacy in parent-child relations which can lead to strategies of resistance or modification (Fotel and Thomsen, 2004; Rooney, 2010; Steeves and Jones, 2010......). In the presentation, we report from a qualitative study that focuses on intergenerational relations. The study draws on empirical data from workshops with Danish families as well as individual and group interviews. We aim to gain insights about the sharing habits and negotiations in intimate family relations...
More than 100 delegates from many African countries attended a seminar on the role of family planning in African development, which was held at the University College in Nairobi, Kenya from December 12-16, 1967. This article outlines some courses of action suggested at the session dealing with the training of family planning personnel. Medical schools should ideally include family planning in their curricula and should be encouraged to set up family planning clinics as part of the teaching facilities. African students studying overseas should adapt their learning to their own countries. General practitioners need at least a 3-day intensive course in family planning. The training of paramedical personnel is also discussed.
Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne
causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information......-cholesterol concentration to discriminate between mutation carriers and non-carriers was 4.4 mmol/L. CONCLUSION: Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria...
Gómez-Bustamante, Edna Margarita; Castillo-Ávila, Irma; Cogollo, Zuleima
Determination of family dysfunction predictors in adolescent students of Cartagena, Colombia. A cross-sectional analytical research was conducted by means of a probabilistic sample per conglomerate of high-school students. Participation of students between 13 and 17 years was requested. Family dysfunction was identified through the family APGAR scale. Predictors were adjusted by binary logistic regression. A total of 1,730 students agreed to participate, mean age was 14.7 years (SD=1.2), and 52.7% were girls. The family APGAR scale showed a Cronbach alpha of 0.78. A group of 896 students (51.8%) reported family dysfunction. Predictors of family dysfunction were: clinically significant depressive symptoms (OR=3.61; IC 95%: 2.31-5.63), low religiosity (OR=1.73; CI 95%: 1.41-2.13), non-nuclear family (OR=1.71, CI 95% 1.71-2.09) (OR=1.73, 95% CI 1.41-2.13), non-nuclear family (OR=1.71, 95%: CI 1.41-2.09), consumption of any illegal substance in their lives (OR=1.67, CI 95%: 1.15-2.13), residents of depressed neighborhoods (OR = 1.49; CI 95%: 1.19-1.87), and poor academic performance (OR=1.43; CI 95%: 1.15-1.76). Clinically significant depressive symptoms, low religiosity and non-nuclear family are the main predictors of family dysfunction among adolescent students in Cartagena, Colombia. The association is possibly bidirectional. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.
María Guadalupe Ramírez Contreras
Full Text Available It was estimated in 2009 that 11,500.0 millions Mexican immigrants were living in the United States (Pew Hispanic Center, 2009. However, such immigrants can’t take their families with them to the US breaking-up of the family unit. Therefore, immigrants and their families become members of a transnational family. In order to cope with such family break-up, members of such families try to balance themselves through developing an emotional intimacy using communication technologies. However, what kind of emotional support is offered when one of the members of the transnational family is a senior citizen and chronically ill? What kind of emotions do these transnational families experience? Which communication technologies do they use to be in touch? How these communication technologies are related to the emotional support? In order to answer these research questions, I explored previous studies in which I found that they only included the immigrants’ point of view. To overcome this limitation in this study, I included the point of view of all members of transnational families. I conducted a qualitative study. It took place in Sahuayo, Michoacan. I interviewed members of 15 transnational families during 2012 and 2013. The results showed that emotional support was identified as: a contacting relatives in Mexico, initiated by immigrants, b exchanging daily life experiences; c solving issues and conflicts; and d immigrants supporting, participating or being virtually in special celebrations. Immigrants also used communication technologies in order to maintain emotional ties and give emotional support to their parents. The communication help immigrants to provide the emotional support to their parents and also to express their feelings. I recommend studying national migrants and rural populations, in order to analyse any differences between them and my sample.
Weisner, Thomas S; Fiese, Barbara H
Mixed methods in family psychology refer to the systematic integration of qualitative and quantitative techniques to represent family processes and settings. Over the past decade, significant advances have been made in study design, analytic strategies, and technological support (such as software) that allow for the integration of quantitative and qualitative methods and for making appropriate inferences from mixed methods. This special section of the Journal of Family Psychology illustrates how mixed methods may be used to advance knowledge in family science through identifying important cultural differences in family structure, beliefs, and practices, and revealing patterns of family relationships to generate new measurement paradigms and inform clinical practice. Guidance is offered to advance mixed methods research in family psychology through sound principles of peer review.
Mathijssen, Jolanda J. J. P.; Koot, Hans M.; Verhulst, Frank C.; De Bruyn, Eric E. J.; Oud, Johan H. L.
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…
Howe, Tami; Davidson, Bronwyn; Worrall, Linda; Hersh, Deborah; Ferguson, Alison; Sherratt, Sue; Gilbert, Jocelyn
Background: Aphasia affects family members in addition to the individuals with the communication disorder. In order to develop appropriate services for the relatives of people with aphasia post-stroke, their rehabilitation goals need to be identified. Aim: The aim of the current investigation was to identify the rehabilitation goals that family…
Full Text Available In this study, we present a review of research of accounting in family firms. The aim is to summarize the main findings of prior studies and identify what we have learned so far about the role of accounting in family firms. Specifically, we survey the contributions of accounting researchers to the study of family firms in four subfields: (1 financial accounting and reporting, (2 management accounting and management control, (3 auditing, and (4 accounting history. After considering some theoretical and empirical advancements of family business research in other disciplines, we conclude by identifying avenues for future research.
Stroup, Antoinette M; Smith, Ken R
This study expands recent research that examines how the receipt of BRCA1 genetic test results affects family adaptability and cohesion 1 year after genetic risk notification. Study participants were members of a large Utah-based kindred with an identified mutation at the BRCA1 locus. The final sample, 90 men and 132 women, contributed information before genetic testing (baseline) and 4 months and/or 1 year after receipt of genetic test results. After controlling for other factors such as family coping resources (Family Crises-Oriented Personal Evaluation Scale) and strains (Family Strains Index) and the tested individual's anxiety levels before genetic testing (state anxiety subscale), men and women reported significant declines in family cohesion 1 year after genetic risk notification (P adaptability 1 year after risk notification (+0.21 points per month; P family cohesion and adaptability levels, whereas a personal history of cancer, having a great deal of caregiving involvement for a female relative with cancer, anxiety, and some types of coping resources had a negative effect on men's perceived family cohesion and adaptability levels. Although results showed that tested parents are perceiving a decline in family functioning after genetic risk notification, there is no evidence to suggest that the decline is due to carrier status. In fact, it is other life circumstances that exist at the time of the genetic testing process that seem to influence the degree to which families adjust to the experience and test results.
Turnbull, Triece; van Wersch, Anna; van Schaik, Paul
Objective: To identify how British families discuss sexual matters and to determine if the use of a multimedia computer program increases knowledge to promote communication about sexual topics. Design: A mixed-method approach in which families were interviewed within the family environment. Method: Twenty families from the north east of England…
Vilaseca, Rosa; Gràcia, Marta; Beltran, Francesc S.; Dalmau, Mariona; Alomar, Elisabeth; Adam-Alcocer, Ana Luisa; Simó-Pinatella, David
Background: The study assesses the support needs of individuals with intellectual disability and their families in Catalonia. The present authors examine family quality of life (FQoL), identify the individual services required and assess families' perceptions of the extent to which their family member with intellectual disability and they…
Boucher, Nathan A
What is the characterization of family involvement in health decisions, filial piety, religiosity/spirituality, and fatalism as they relate to attitudes/intentions toward end-of-life (EOL) planning/decision making among elderly Dominicans and Puerto Ricans in East Harlem, New York City? An exploratory study using grounded theory and domain analysis was conducted with 51 elderly Dominicans and Puerto Ricans. Purposive and emerging themes were identified by three coders. Purposive themes were family involvement in health decisions/filial piety and religiosity/spirituality/fatalism and for clinical EOL-related terms; emerging themes were accessing/using EOL care, autonomy, influence of death/dying on own future care decisions, and death/dying is a private matter. The recommendations for community members are to empower awareness of EOL issues, engage providers regarding cultural needs, and clarification of advance care planning (ACP) function; the recommendations for providers are to engage patients to enhance culturally responsive care, clarify ACP function, and ask patients about preference for roles of family and God in decisions; the recommendations for policy makers are to enhance palliative education/access and immigration status research protections.
The Mexican Association Against Violence Towards Women (COVAC) surveyed 3300 men and women aged 18-65 in Mexico City and nine other cities in 1995 to assess public opinion regarding domestic violence. 17% of respondents were of high socioeconomic status, 33% of middle status, and 50% of low status. 61% of respondents stated that children are the family members most frequently abused physically or mentally, 21% identified mothers, and 10% other female family members. 96% of respondents considered physical and mental mistreatment to be forms of violence. 70% considered physical mistreatment and psychological damage to occur very frequently. 21% knew of someone who was abused in the preceding 6 months. 74% of the abused persons were women. 52% were mothers and 30% were daughters. Of the abused males, 21% were 13-17 years old and 71% were 5-24 years of age. 69% were sons and 12% were fathers. Only 20% of cases were reported to any authority. 46% of the cases reported led to jailing of the aggressor. 43% of the cases were not reported for fear of provoking greater violence. 83% of respondents approved of separation of the aggressor from the family if necessary. 90% approved of seeking orientation or legal protection from an authority, and 94% approved of shelters for abused women and children. 54% knew of the existence of some legal mechanism to confront violence even though there is no legislation in Mexico specifically against domestic violence.
Full Text Available Several studies suggest a strong familial aggregation for cluster headache (CH, but so far none of them have included subjects with probable cluster headache (PCH in accordance with the International Classification of Headache Disorders. Objective To identify cases of probable cluster headache and to assess the familial aggregation of cluster headache by including these subjects. Method Thirty-six patients attending a headache consultation and diagnosed with trigeminal autonomic headaches were subjected to a questionnaire-based interview. A telephone interview was also applied to all the relatives who were pointed out as possibly affected as well as to some of the remaining relatives. Results Twenty-four probands fulfilled the criteria for CH or PCH; they had 142 first-degree relatives, of whom five were found to have CH or PCH, including one case of CH sine headache. The risk for first-degree relatives was observed to be increased by 35- to 46-fold. Conclusion Our results suggest a familial aggregation of cluster headache in the Portuguese population.
Dinckan, N; Du, R; Petty, L E; Coban-Akdemir, Z; Jhangiani, S N; Paine, I; Baugh, E H; Erdem, A P; Kayserili, H; Doddapaneni, H; Hu, J; Muzny, D M; Boerwinkle, E; Gibbs, R A; Lupski, J R; Uyguner, Z O; Below, J E; Letra, A
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis. Novel variants in KREMEN1 were identified as likely pathogenic in 2 families with suspected syndromic tooth agenesis. Variants in more than 1 gene were identified segregating with tooth agenesis in 2 families, suggesting oligogenic inheritance. Structural modeling of missense variants suggests deleterious effects to the encoded proteins. Functional analysis of an indel variant (c.3607+3_6del) in LRP6 suggested that the predicted resulting mRNA is subject to nonsense-mediated decay. Our results support a major role for WNT pathways genes in the etiology of tooth agenesis while revealing new candidate genes. Moreover, oligogenic cosegregation was suggestive for complex inheritance and potentially complex gene product interactions during development, contributing to improved understanding of the genetic etiology of familial tooth agenesis.
Dermer, Shannon B.; Smith, Shannon D.; Barto, Korenna K.
To effectively work with and advocate for lesbians, gay men, and their families, one has to be aware of the individual, relational, and societal forces that may negatively affect them. The focus of this article is to familiarize the reader with terminology used to identify and label sexual prejudice, discrimination, and oppression. The pros and…
Smeele, Zoe E; Burns, Jennifer M; Van Doorsaler, Koenraad; Fontenele, Rafaela S; Waits, Kara; Stainton, Daisy; Shero, Michelle R; Beltran, Roxanne S; Kirkham, Amy L; Berngartt, Rachel; Kraberger, Simona; Varsani, Arvind
Papillomaviridae is a diverse family of circular, double-stranded DNA (dsDNA) viruses that infect a broad range of mammalian, avian and fish hosts. While papillomaviruses have been characterized most extensively in humans, the study of non-human papillomaviruses has contributed greatly to our understanding of their pathogenicity and evolution. Using high-throughput sequencing approaches, we identified 7 novel papillomaviruses from vaginal swabs collected from 81 adult female Weddell seals (Leptonychotes weddellii) in the Ross Sea of Antarctica between 2014-2017. These seven papillomavirus genomes were amplified from seven individual seals, and six of the seven genomes represented novel species with distinct evolutionary lineages. This highlights the diversity of papillomaviruses among the relatively small number of Weddell seal samples tested. Viruses associated with large vertebrates are poorly studied in Antarctica, and this study adds information about papillomaviruses associated with Weddell seals and contributes to our understanding of the evolutionary history of papillomaviruses.
Vera, Ivania; Lucchese, Roselma; Nakatani, Adélia Yaeko Kyosen; Pagotto, Valeria; Montefusco, Selma Rodrigues Alves; Sadoyama, Geraldo
The aim of this study was to identify factors associated with family functionality of non-institutionalized long-lived subjects, who were residents in Goiânia (GO), Brazil. This was a population-based epidemiological study with cross-sectional outline. Evaluation scales of the functional and cognitive capacities were used. Family dynamics was measured using the Adaptation, Partnership, Growth, Affection, and Resolve (APGAR) instrument by making home interviews with 131 long-lived individuals. There was prevalence of the female gender, average of age of 83.87 years old, widowhood condition, and residence in a big family, primary schooling, and self-perception of regular health. A great amount showed independence for self-care and partial dependence for daily life instrumental activities. Family functionality prevailed with score average of 9.06 points. In conclusion, family functionality in long-lived subjects is associated with self-perception of poor/bad health, osteoporosis, and fall. Results allowed characterizing long-lived subjects' family functionality with the aim of valuing and prioritizing family as a caregiver.
Background Lysozyme c (chicken-type lysozyme) has an important role in host defense, and has been extensively studied as a model in molecular biology, enzymology, protein chemistry, and crystallography. Traditionally, lysozyme c has been considered to be part of a small family that includes genes for two other proteins, lactalbumin, which is found only in mammals, and calcium-binding lysozyme, which is found in only a few species of birds and mammals. More recently, additional testes-expressed members of this family have been identified in human and mouse, suggesting that the mammalian lysozyme gene family is larger than previously known. Results Here we characterize the extent and diversity of the lysozyme gene family in the genomes of phylogenetically diverse mammals, and show that this family contains at least eight different genes that likely duplicated prior to the diversification of extant mammals. These duplicated genes have largely been maintained, both in intron-exon structure and in genomic context, throughout mammalian evolution. Conclusions The mammalian lysozyme gene family is much larger than previously appreciated and consists of at least eight distinct genes scattered around the genome. Since the lysozyme c and lactalbumin proteins have acquired very different functions during evolution, it is likely that many of the other members of the lysozyme-like family will also have diverse and unexpected biological properties. PMID:21676251
Biegel Jason M
Full Text Available Abstract Background Lysozyme c (chicken-type lysozyme has an important role in host defense, and has been extensively studied as a model in molecular biology, enzymology, protein chemistry, and crystallography. Traditionally, lysozyme c has been considered to be part of a small family that includes genes for two other proteins, lactalbumin, which is found only in mammals, and calcium-binding lysozyme, which is found in only a few species of birds and mammals. More recently, additional testes-expressed members of this family have been identified in human and mouse, suggesting that the mammalian lysozyme gene family is larger than previously known. Results Here we characterize the extent and diversity of the lysozyme gene family in the genomes of phylogenetically diverse mammals, and show that this family contains at least eight different genes that likely duplicated prior to the diversification of extant mammals. These duplicated genes have largely been maintained, both in intron-exon structure and in genomic context, throughout mammalian evolution. Conclusions The mammalian lysozyme gene family is much larger than previously appreciated and consists of at least eight distinct genes scattered around the genome. Since the lysozyme c and lactalbumin proteins have acquired very different functions during evolution, it is likely that many of the other members of the lysozyme-like family will also have diverse and unexpected biological properties.
Studies of the Africa OR/TA Project and other Cooperating Agencies suggest that support of family planning by traditional health practitioners (THPs), traditional birth attendants (TBAs), Islamic religious leaders, and male opinion leaders (MOLs) can result in an increase in the availability of family planning services in the community. A study in Kenya shows that 100 trained THPs who were actively involved in family planning (i.e., distributors of condoms, oral contraceptives, and primary health care drugs) increased contraceptive use in Siaya and Kakamega districts from 7% to 15% and from 14% to 34%, respectively. Contraceptive use did not change in the 2 control areas. Two years after TBAs underwent training in family planning promotion, the proportion of women who named TBAs as their source of family planning information increased from 2% to 18%. In The Gambia, integration of Islamic religious leaders into family planning promotion activities resulted in an increase of current modern contraceptive method use from 9% to 20% for males and from 9% to 26% for females. Involvement of 69 MOLs has increased knowledge of family planning methods in Nkambe, Cameroon. For example, among males, knowledge about the condom increased from 52% to 81% and knowledge about spermicides increased from 12% to 44%. The corresponding figures for women were 47% to 72% and 17% to 42%, respectively.
Full Text Available The increasing trend of partnership disruption among families with children in recent decades has been accompanied by substantial changes in traditional gender roles in industrialized countries. Yet, relatively little is known about the effects of changing gender relations on family stability in the European context. In this paper, we study such gender influences at the familial and societal level in Sweden and Hungary between the mid-1960s and the early 1990s. We focus on the disruption of the first parental union (i.e. the union in which a couple's first child was born. Our analysis is based on data extracted from the Swedish and Hungarian Fertility and Family Surveys of 1992/93. We use the method of hazard regression. The results suggest (i that the establishment of the dual-earner family model influences family stability only if it is accompanied by some changes in traditional gender relations within the family, and (ii that women's and men's labor-market behavior have different effects in spite of the relatively long history of women's (also mothers' labor-force participation in both Sweden and Hungary.
This paper addresses the growing diversity and complexity of spirituality in society and within families. This requires a broadly inclusive, multifaith approach in clinical training and practice. Increasingly, individuals, couples, and families seek, combine, and reshape spiritual beliefs and practices--within and among faiths and outside organized religion--to fit their lives and relationships. With rising faith conversion and interfaith marriages, the paper examines challenges in multifaith families, particularly with marriage, childrearing, and the death of a loved one. Clinical guidelines, cautions, and case examples are offered to explore the role and significance of spiritual beliefs and practices in couple and family relationships; to identify spiritual sources of distress and relational conflict; and to draw potential spiritual resources for healing, well-being, and resilience, fitting client values and preferences. 2010 © FPI, Inc.
Jensen, Arne; Krishna, M.
In this paper we give some new criteria for identifying the components of a probability measure, in its Lebesgue decomposition. This enables us to give new criteria to identify spectral types of self adjoint operators on Hilbert spaces, especially those of interest....
Jensen, Arne; Krishna, M.
In this paper we give some new criteria for identifying the components of a probability measure, in its Lebesgue decomposition. This enables us to give new criteria to identify spectral types of self-adjoint operators on Hilbert spaces, especially those of interest....
Solheim, Catherine; Zaid, Samantha; Ballard, Jaime
In this study, an ambiguous loss framework as described by Boss (1999, Ambiguous loss: Learning to live with unresolved grief, First Harvard University Press, Cambridge, MA) was used to examine and understand the family experiences of Mexican immigrant agricultural workers in Minnesota. Transcripts from interviews with 17 workers in Minnesota and 17 family members in Mexico were analyzed using qualitative methodology to identify experiences of ambiguous loss in the participants' narratives. Key dimensions of ambiguous loss identified in the transcripts include: psychological family, feelings of chronic/recurring loss, finding support, and meaning making. In the category of psychological family, participants in both Mexico and the United States mourned the physical absence of their family members and experienced ambiguity regarding family responsibilities, but worked to maintain their psychological roles within the family. In the category of chronic/recurring loss, participants in both countries experienced chronic worry from not knowing if family members were safe, ambiguity regarding when the immigrant would return, and chronic stressors that compounded these feelings of loss. Participants in both countries coped with both real and ambiguous losses by accessing family support and by using ambiguous communication to minimize worry. Participants in Mexico also accessed work and community-based support. Participants in both countries made meaning of the ambiguous loss by identifying ways their lives were improved and goals were met as a result of the immigration for agricultural work in Minnesota. © 2015 Family Process Institute.
Visser, M; Mochtar, M H; de Melker, A A; van der Veen, F; Repping, S; Gerrits, T
What do identifiable sperm donors feel about psychosocial counselling? Identifiable sperm donors found it important that psychosocial counselling focused on emotional consequences and on rules and regulations and they expected to have access to psychosocial counselling at the time that donor-offspring actually sought contact. Most studies on sperm donors are on anonymous donors and focus on recruitment, financial compensation, anonymity and motivations. There is limited knowledge on the value that identifiable sperm donors place on psychosocial counselling and what their needs are in this respect. We performed a qualitative study from March until June 2014 with 25 identifiable sperm donors, who were or had been a donor at the Centre for Reproductive Medicine of the Academic Medical Centre in Amsterdam any time between 1989 and 2014. We held semi-structured in-depth interviews with identifiable sperm donors with an average age of 44 years. The interviews were fully transcribed and analysed using the constant comparative method of grounded theory. Twelve out of 15 donors (former donors ITALIC! n = 8, active donors ITALIC! n = 7) who had received a counselling session during their intake procedure found it important that they had been able to talk about issues such as the emotional consequences of donation, disclosure to their own children, family and friends, future contact with donor-offspring and rules and regulations. Of the 10 former donors who had received no counselling session, 8 had regretted the lack of intensive counselling. In the years following their donation, most donors simply wanted to know how many offspring had been born using their sperm and had no need for further counselling. Nevertheless, they frequently mentioned that they were concerned about the well-being of 'their' offspring. In addition, they would value the availability of psychosocial counselling in the event that donor-offspring actually sought contact. A limitation of our study is its
Jacobsen, J H; Rosenberg, R S; Huttenlocher, P R; Spire, J P
A familial syndrome of painful nocturnal cramping and jerking in members of three generations is described. All-night polysomnograms demonstrated both myoclonic jerks and sustained muscular activity in three family members, a 4-year-old girl, who presented with frequent episodes of painful awakenings; her 7-year-old brother, who had similar but less severe symptoms; and the 28-year-old mother, who had suffered nocturnal cramping and awakenings for much of her life. To the authors' knowledge, this is the first description of a familial disorder characterized by exclusively nocturnal intermittent cramping and myoclonus of brainstem or spinal origin.
Mehmet Emin Öztürk
Full Text Available Individuals with Disabilities Education Act (IDEA gives many rights to parents with special needs in terms of involvement and participation. Given the importance of family involvement in the special education process, and federal legislation that increasingly mandated and supported such involvement over time, considerable research has focused on the multiple ways that relationships between schools and families in the special education decision making process have played out. Educational professionals should create a positive climate for CLD families so that they feel more comfortable and therefore are able to participate more authentically and meaningfully.
Cardy, John; Katori, Makoto
We consider a generalization of the vicious walker problem in which N random walkers in R d are grouped into p families. Using field-theoretic renormalization group methods we calculate the asymptotic behaviour of the probability that no pairs of walkers from different families have met up to time t. For d > 2, this is constant, but for d -α , which we compute to O(ε 2 ) in an expansion in ε = 2 - d. The second-order term depends on the ratios of the diffusivities of the different families. In two dimensions, we find a logarithmic decay (ln t) -α-bar and compute α-bar exactly
marsico, giuseppina; Chaudhary, N; Valsiner, Jaan
relatives, ancestors’ spirits, etc.) in efforts that use Peripheral Communication Patterns creates a highly redundant social context for human development over life course which is the basis for family members’ resilience during critical life events. Examples from the social contexts of Greenland, Italy...... collective of persons linked with one another by a flexible social network. Within such networks, Peripheral Communication Patterns set the stage for direct everyday life activities within the family context. Peripheral Communication Patterns are conditions where one family network member (A) communicates...
Wilczek, F.; Zee, A.
The possible utility of spinor representations of large orthogonal internal-symmetry groups is explored. The repetitive structure of families is incorporated quite naturally, but there is a difficulty with extra ''conjugate'' families having V+A weak currents. Possible methods for removing these conjugate families from the low-energy spectrum are discussed. An SO(18) example is discussed in some detail. An occurrence of spinors as a classification of composite particles is discussed. A long appendix discusses useful techniques for practical calculations involving spinors
Noemi, I; Rugiero, E; Viovy, A; Cortés, P P; Cerva, J L; González, M; Back, S; Gottlieb, B; Herrera, M E; Cordovez, J
With the objective of defining the intrafamiliar distribution pattern of the infection and illness caused by Toxocara sp., 78 infected families (356 people) were studied for 30 months. At the same time 28 families free of infection were studied, as a control group (97 people). The socioeconomic level was analyzed according to a modified Graffar index. Contac with canine and feline pets, and antecedents of geophagia and onichophagia were found to be risk factors which would facilitate the infection. The average of persons infected, diagnosed by ELISA Toxocara test, was 2.8 per family. The importance of familiar distribution of the infection and its primary prevention is strongly stressed.
Brown, Kyla; Worrall, Linda; Davidson, Bronwyn; Howe, Tami
Language and lifestyle changes experienced following the onset of aphasia extend beyond the individual to impact family members of persons with aphasia. Research exploring the meaning of living successfully with aphasia has explored the perspectives of individuals with aphasia and speech-language pathologists. Family members' views of living successfully with aphasia may also contribute valuable insights into positive adaptive processes and factors that may influence clinical interventions and community-based services for individuals with aphasia and their families. To explore, from the perspectives of family members of individuals with aphasia, the meaning of living successfully with aphasia. Twenty-four family members (nominated by individuals with aphasia) participated in semistructured in-depth interviews about living successfully with aphasia. Interviews were transcribed verbatim and analyzed using interpretative phenomenological analysis to identify themes relating to the meaning of living successfully with aphasia. Seven themes were identified from analysis of family member participant transcripts: getting involved in life, support for the person with aphasia, communication, family members' own needs, putting life in perspective, focusing on and celebrating strengths and improvements, and experiences with services. Findings provide evidence to support previous research indicating that aphasia affects the whole family and not just an individual. The inclusion of family members as part of the rehabilitation team is indicated. Family members' needs and priorities must be considered in conceptualizing living successfully with aphasia to ensure family members are included in intervention programs.
Peter J. Gould; J. Bradley St.Clair; Paul D. Anderson
A major objective of tree improvement programs is to identify genotypes that will perform well in operational deployments. Relatively little is known, however, about how the competitive environment affects performance in different types of deployments. We tested whether the genetic composition and density of deployments affect the performance of full-sib families of...
Della Porta, Sandra; Howe, Nina
This study examined sibling behavior during polyadic family conflicts (involving three or more family members) by identifying operational conflict elements (i.e., roles, topic), power strategies, effective influence of power, and social domain argumentation. Polyadic conflict sequences (n = 210) were identified in 35/39 families with two siblings…
Saldarriaga Gil, Wilmar
Full Text Available A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis. The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele. With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies.
This article systematically analyzes emerging practices of sorting, sharing and storing photos in everyday family life. I report from a study of how Danish families and school children implement and negotiate the use of digital technologies. The purpose is to investigate why digital technologies...... are used and how they potentially change the relation between parents and children. The more general ambition of our study is to significantly improve our understanding of the motives and consequences of the deep infiltration of technology into contemporary family life in a networked world. Our study draws...... on empirical data from in-depth interviews with 15 Danish families and 50 school children aged 13-16 during six months in 2017. Both parents and children use their digital devices, particularly smartphones, as cameras to document their lives and to share photos with others. However, the interviews show...
Skip to main content Learning About Familial Hypercholesterolemia Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding Opportunities ...
McKain, Barbara; McKain, Michael
Discusses need for dissolution of the couple" relationship with substitution of the extended family which would permit each member to maintain individuality and to function on own merit. Suggests group living as preferable alternative. (CJ)
AnilKumar, P.; Srinivas, T.N.R.
habitats ranging from cold marine regions like Antarctica, freshwater bodies, algal/microbial mats, marine waters, marine sediments, mangroves, haloalkaline soda lakes, hot springs, mud volcanoes, and ikaite tufa columns Some of the species of the family...
... associated interstitial lung disease (RB-ILD); and cryptogenic organizing pneumonia (COP). Cigarette smoking is a major risk factor for developing IIP, even in families with FPF. Clinical Trials For more than 100 ...
Nowicka, Paulina; Höglund, Peter; Pietrobelli, Angelo
OBJECTIVE: The aim was to evaluate the efficacy of a Family Weight School treatment based on family therapy in group meetings with adolescents with a high degree of obesity. METHODS: Seventy-two obese adolescents aged 12-19 years old were referred to a childhood obesity center by pediatricians...... and school nurses and offered a Family Weight School therapy program in group meetings given by a multidisciplinary team. Intervention was compared with an untreated waiting list control group. Body mass index (BMI) and BMI z-scores were calculated before and after intervention. RESULTS: Ninety percent...... group with initial BMI z-score 3.5. CONCLUSIONS: Family Weight School treatment model might be suitable for adolescents with BMI z...
Green, Lisa Katherine
This study aimed to systematically describe the decision-making phase of family formation in German lesbians planning to parent via donor insemination, to assess the issues pertinent to each mother role and those involved in donor type choice using a retrospective, structured questionnaire. Data was collected from 105 self-identified lesbian women, 55 of whom were birthmothers and 50 of whom were social mothers. The process of planning a lesbian-headed family created by donor insemination ...
Crowley, Susan L.
This study used data from 992 cases in 16 longitudinal studies of the Early Intervention Research Institute to evaluate five measures of family functioning: (1) Family Adaptability and Cohesion Evaluation Scale-III; (2) Family Support Scale; (3) Family Resources Scale; (4) Parenting Stress Index; and (5) Family Inventory of Life Events.…
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…
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.
... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share The "Perfect" Family Page Content Article Body Is there such a ...
Oandasan, Ivy; White, David; Hammond Mobilio, Melanie; Gotlib Conn, Lesley; Feldman, Kymm; Kim, Florence; Rouleau, Katherine; Sorensen, Leslie
To explore how family physicians understand the concept of academic leadership. Case study. Department of Family and Community Medicine at the University of Toronto in Ontario. Thirty family physician academic leaders. Focus groups and interviews were conducted with family physicians from a large multisite urban university who were identified by peers as academic leaders at various career stages. Transcripts from the focus groups and interviews were anonymized and themes were analyzed and negotiated among 3 researchers. Participants identified qualities of leadership among academic leaders that align with those identified in the current literature. Despite being identified by others as academic leaders, participants were reluctant to self-identify as such. Participants believed they had taken on early leadership roles by default rather than through planned career development. This study affirms the need to define academic leadership explicitly, advance a culture that supports it, and nurture leaders at all levels with a variety of strategies.
Daire, Andrew P.; Dominguez, Vanessa N.; Carlson, Ryan G.; Case-Pease, Jenene
We administered the Family Adjustment Measure to 368 parents of children with special needs to identify positive adjustment. We randomly split the sample to conduct exploratory factor analysis ("n" = 194) and confirmatory factor analysis ("n" = 174). Results indicated four possible subscales and that explain 51% of the variance.
International Planned Parenthood Federation, London (England).
This booklet presents evidence which links the effects of unplanned pregnancies on the health of the mother and child. The first section identifies the causes of high mortality and morbidity rates among children. Teenage child-bearing, child-bearing past the age of 35, family size and birth intervals are discussed. The second section presents…
Cazzamali, Giuseppe; Klærke, Dan Arne; Grimmelikhuijzen, Cornelis J P
in the genomic databases from the malaria mosquito Anopheles gambiae and the honeybee Apis mellifera. These four tyramine or tyramine-like receptors constitute a new receptor family that is phylogenetically distinct from the previously identified insect octopamine/tyramine receptors. The Drosophila tyramine...
Mahood, S.; Rojas, R.; Andres, D.; Zagozeski, C.; White, G.; Bradel, T.
An educational contract for family medicine residency training and evaluation addresses many of the difficulties and challenges of current postgraduate medical education. This article identifies important principles for developing a contractual approach; describes the contract used in one program and its implementation; and discusses its theory, advantages, and limitations.
de Jong, Rinke; Bijleveld, C.C.J.H.
This study aimed to examine the association between different characteristics of sexual abuse and adverse family outcomes in later life. Through archived court files, a large sample of Dutch men and women who have been sexually abused as a child could be identified. Outcome variables were assessed
Maluccio, Anthony N.; And Others
In response to the question of how research can contribute to the recently intensified reexamination of family reunification services in public as well as private child welfare agencies, this article reviews research findings from related studies, delineates knowledge gaps and issues, and identifies emerging research priorities. (TJQ)