Family and academic performance: identifying high school student profiles

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Alicia Aleli Chaparro Caso López

2016-01-01

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.

Identifying public health competencies relevant to family medicine.

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Harvey, Bart J; Moloughney, Brent W; Iglar, Karl T

2011-10-01

Public health situations faced by family physicians and other primary care practitioners, such as severe acute respiratory syndrome (SARS) and more recently H1N1, have resulted in an increased interest to identify the public health competencies relevant to family medicine. At present there is no agreed-on set of public health competencies delineating the knowledge and skills that family physicians should possess to effectively face diverse public health challenges. Using a multi-staged, iterative process that included a detailed literature review, the authors developed a set of public health competencies relevant to primary care, identifying competencies relevant across four levels, from "post-MD" to "enhanced." Feedback from family medicine and public health educator-practitioners regarding the set of proposed "essential" competencies indicated the need for a more limited, feasible set of "priority" areas to be highlighted during residency training. This focused set of public health competencies has begun to guide relevant components of the University of Toronto's Family Medicine Residency Program curriculum, including academic half-days; clinical experiences, especially identifying "teachable moments" during patient encounters; resident academic projects; and elective public health agency placements. These competencies will also be used to guide the development of a family medicine-public health primer and faculty development sessions to support family medicine faculty facilitating residents to achieve these competencies. Once more fully implemented, an evaluation will be initiated to determine the degree to which these public health competencies are being achieved by family medicine graduates, especially whether they attained the knowledge, skills, and confidence necessary to effectively face diverse public health situations-from common to emergent. Copyright © 2011 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Identifying the Family, Job, and Workplace Characteristics of Employees Who Use Work-Family Benefits.

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Secret, Mary

2000-01-01

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…

Common mutations identified in the MLH1 gene in familial Lynch syndrome

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Jisha Elias

2017-12-01

In this study we identified three families with Lynch syndrome from a rural cancer center in western India (KCHRC, Goraj, Gujarat, where 70-75 CRC patients are seen annually. DNA isolated from the blood of consented family members of all three families (8-10 members/family was subjected to NGS sequencing methods on an Illumina HiSeq 4000 platform. We identified unique mutations in the MLH1 gene in all three HNPCC family members. Two of the three unrelated families shared a common mutation (154delA and 156delA. Total 8 members of a family were identified as carriers for 156delA mutation of which 5 members were unaffected while 3 were affected (age of onset: 1 member <30yrs & 2 were>40yr. The family with 154delA mutation showed 2 affected members (>40yr carrying the mutations.LYS618DEL mutation found in 8 members of the third family showed that both affected and unaffected carried the mutation. Thus the common mutations identified in the MLH1 gene in two unrelated families had a high risk for lynch syndrome especially above the age of 40.

The effect of ethylene glycol monomethyl ether and diethylene glycol monomethyl ether on hepatic gamma-glutamyl transpeptidase.

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Kawamoto, T; Matsuno, K; Kayama, F; Arashidani, K; Yoshikawa, M; Kodama, Y

1992-11-22

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.

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

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Huang, Xiao-Yan; Zhuang, Hong; Wu, Ji-Hong; Li, Jian-Kang; Hu, Fang-Yuan; Zheng, Yu; Tellier, Laurent Christian Asker M.; Zhang, Sheng-Hai; Gao, Feng-Juan; Zhang, Jian-Guo

2017-01-01

Purpose Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. Methods To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members by using Sanger sequencing and quantitative real-time PCR (QPCR). Results Of the cohort of ten FEVR families, six pathogenic variants were identified, including four novel and two known heterozygous mutations. Of the variants identified, four were missense variants, and two were novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del]. The two novel heterozygous deletion mutations were not observed in the control subjects and could give rise to a relatively severe FEVR phenotype, which could be explained by the protein function prediction. Conclusions We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for FEVR. These genetic deletion variations exhibit a severe form of FEVR, with tractional retinal detachments compared with other known point mutations. The data further enrich the mutation spectrum of FEVR and enhance our understanding of genotype–phenotype correlations to provide useful information for disease diagnosis, prognosis, and effective genetic counseling. PMID:28867931

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.

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Healey, Emma; Taylor, Natalie; Greening, Sian; Wakefield, Claire E; Warwick, Linda; Williams, Rachel; Tucker, Kathy

2017-12-01

PurposeRecommendations for BRCA1 and BRCA2 mutation carriers to disseminate information to at-risk relatives pose significant challenges. This study aimed to quantify family dissemination, to explain the differences between fully informed families (all relatives informed verbally or in writing) and partially informed families (at least one relative uninformed), and to identify dissemination barriers.MethodsBRCA1 and BRCA2 mutation carriers identified from four Australian hospitals (n=671) were invited to participate in the study. Distress was measured at consent using the Kessler psychological distress scale (K10). A structured telephone interview was used to assess the informed status of relatives, geographical location of relatives, and dissemination barriers. Family dissemination was quantified, and fully versus partially informed family differences were examined. Dissemination barriers were thematically coded and counted.ResultsA total of 165 families participated. Information had been disseminated to 81.1% of relatives. At least one relative had not been informed in 52.7% of families, 4.3% were first-degree relatives, 27.0% were second-degree relatives, and 62.0% were cousins. Partially informed families were significantly larger than fully informed families, had fewer relatives living in close proximity, and exhibited higher levels of distress. The most commonly recorded barrier to dissemination was loss of contact.ConclusionLarger, geographically diverse families have greater difficulty disseminating BRCA mutation risk information to all relatives. Understanding these challenges can inform future initiatives for communication, follow-up and support.

Reversible skeletal abnormalities in gamma-glutamyl transpeptidase-deficient mice

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Levasseur, Regis; Barrios, Roberto; Elefteriou, Florent; Glass, Donald A 2nd; Lieberman, Michael W.; Karsenty, Gerard

2003-01-01

Gamma-glutamyl transpeptidase (GGT) is a widely distributed ectopeptidase responsible for the degradation of glutathione in the gamma-glutamyl cycle. This cycle is implicated in the metabolism of cysteine, and absence of GGT causes a severe intracellular decrease in this amino acid. GGT-deficient (GGT-/-) mice have multiple metabolic abnormalities and are dwarf. We show here that this latter phenotype is due to a decreased of the growth plate cartilage total height resulting from a proliferative defect of chondrocytes. In addition, analysis of vertebrae and tibiae of GGT-/- mice revealed a severe osteopenia. Histomorphometric studies showed that this low bone mass phenotype results from an increased osteoclast number and activity as well as from a marked decrease in osteoblast activity. Interestingly, neither osteoblasts, osteoclasts, nor chondrocytes express GGT, suggesting that the observed defects are secondary to other abnormalities. N-acetylcysteine supplementation has been shown to reverse the metabolic abnormalities of the GGT-/- mice and in particular to restore the level of IGF-1 and sex steroids in these mice. Consistent with these previous observations, N-acetylcysteine treatment of GGT-/- mice ameliorates their skeletal abnormalities by normalizing chondrocytes proliferation and osteoblastic function. In contrast, resorbtion parameters are only partially normalized in GGT-/- N-acetylcysteine-treated mice, suggesting that GGT regulates osteoclast biology at least partly independently of these hormones. These results establish the importance of cysteine metabolism for the regulation of bone remodeling and longitudinal growth.

Gamma-glutamyl-transpeptidase to platelet ratio is not superior to APRI,FIB-4 and RPR for diagnosing liver fibrosis in CHB patients in China

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Huang, Rui; Wang, Guiyang; Tian, Chen; Liu, Yong; Jia, Bei; Wang, Jian; Yang, Yue; Li, Yang; Sun, Zhenhua; Yan, Xiaomin; Xia, Juan; Xiong, Yali; Song, Peixin; Zhang, Zhaoping; Ding, Weimao

2017-01-01

The gamma-glutamyl transpeptidase to platelet ratio (GPR) is a novel index to estimate liver fibrosis in chronic hepatitis B (CHB). Few studies compared diagnostic accuracy of GPR with other non-invasive fibrosis tests based on blood parameters. We analyzed diagnostic values of GPR for detecting liver fibrosis and compared diagnostic performances of GPR with APRI (aspartate aminotransferase-to-platelet ratio index), FIB-4 (fibrosis index based on the four factors), NLR (neutrophil-to-lymphocy...

Current research on progressive familial intrahepatic cholestasis

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DENG Baocheng

2015-09-01

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.

Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer.

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Kallenberg, F G J; Aalfs, C M; The, F O; Wientjes, C A; Depla, A C; Mundt, M W; Bossuyt, P M M; Dekker, E

2017-09-21

Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic. Each hospital continued standard procedures for identifying patients at risk (control strategy) and then, after a predetermined period, switched to offering the family history tool to included patients (intervention strategy). After considering the tool-based recommendation, the health care provider could decide on and arrange the referral. Primary outcome was the relative number of CRC patients who received screening or surveillance recommendations for themselves or relatives because of hereditary CRC or FCC, provided by genetic counseling. The intervention effect was evaluated using a logit-linear model. With the tool, 46/489 (9.4%) patients received a screening or surveillance recommendation, compared to 35/292 (12.0%) in the control group. In the intention-to-treat-analysis, accounting for time trends and hospital effects, this difference was not statistically significant (p = 0.58). A family history tool does not necessarily assist in increasing the number of CRC patients and relatives enrolled in screening or surveillance recommendations for hereditary CRC or FCC. Other interventions should be considered.

Identification of a highly reactive threonine residue at the active site of γ-glutamyl transpeptidase

International Nuclear Information System (INIS)

Stole, E.; Seddon, A.P.; Wellner, D.; Meister, A.

1990-01-01

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

Structure and Inhibitor Specificity of L,D-Transpeptidase (LdtMt2) from Mycobacterium tuberculosis and Antibiotic Resistance: Calcium Binding Promotes Dimer Formation.

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Gokulan, Kuppan; Khare, Sangeeta; Cerniglia, Carl E; Foley, Steven L; Varughese, Kottayil I

2018-03-09

The final step of peptidoglycan (PG) synthesis in all bacteria is the formation of cross-linkage between PG-stems. The cross-linking between amino acids in different PG chains gives the peptidoglycan cell wall a 3-dimensional structure and adds strength and rigidity to it. There are two distinct types of cross-linkages in bacterial cell walls. D,D-transpeptidase (D,D-TPs) generate the classical 4➔3 cross-linkages and the L,D-transpeptidase (L,D-TPs) generate the 3➔3 non-classical peptide cross-linkages. The present study is aimed at understanding the nature of drug resistance associated with L,D-TP and gaining insights for designing novel antibiotics against multi-drug resistant bacteria. Penicillin and cephalosporin classes of β-lactams cannot inhibit L,D-TP function; however, carbapenems inactivate its function. We analyzed the structure of L,D-TP of Mycobacterium tuberculosis in the apo form and in complex with meropenem and imipenem. The periplasmic region of L,D-TP folds into three domains. The catalytic residues are situated in the C-terminal domain. The acylation reaction occurs between carbapenem antibiotics and the catalytic Cys-354 forming a covalent complex. This adduct formation mimics the acylation of L,D-TP with the donor PG-stem. A novel aspect of this study is that in the crystal structures of the apo and the carbapenem complexes, the N-terminal domain has a muropeptide unit non-covalently bound to it. Another interesting observation is that the calcium complex crystallized as a dimer through head and tail interactions between the monomers.

New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes.

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Parker, Brian J; Moltke, Ida; Roth, Adam; Washietl, Stefan; Wen, Jiayu; Kellis, Manolis; Breaker, Ronald; Pedersen, Jakob Skou

2011-11-01

Regulatory RNA structures are often members of families with multiple paralogous instances across the genome. Family members share functional and structural properties, which allow them to be studied as a whole, facilitating both bioinformatic and experimental characterization. We have developed 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-coding regions comprising 725 individual structures, including 48 families with known structural RNA elements. Known families identified include both noncoding RNAs, e.g., miRNAs and the recently identified MALAT1/MEN β lincRNA family; and cis-regulatory structures, e.g., iron-responsive elements. We also 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 identify potential new regulatory networks, including large families of short hairpins enriched in immunity-related genes, e.g., TNF, FOS, and CTLA4, which include known transcript destabilizing elements. Our findings exemplify the diversity of post-transcriptional regulation and provide a resource for further characterization of new regulatory mechanisms and families of noncoding RNAs.

Ethical issues in identifying and recruiting participants for familial genetic research.

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Beskow, Laura M; Botkin, Jeffrey R; Daly, Mary; Juengst, Eric T; Lehmann, Lisa Soleymani; Merz, Jon F; Pentz, Rebecca; Press, Nancy A; Ross, Lainie Friedman; Sugarman, Jeremy; Susswein, Lisa R; Terry, Sharon F; Austin, Melissa A; Burke, Wylie

2004-11-01

Family-based research is essential to understanding the genetic and environmental etiology of human disease. The success of family-based research often depends on investigators' ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members raises ethical concerns due to the tension between protecting participants' privacy and promoting research quality, and guidelines for these activities are not well established. The Cancer Genetics Network Bioethics Committee assembled a multidisciplinary group to explore the scientific and ethical issues that arise in the process of family-based recruitment. The group used a literature review as well as expert opinion to develop recommendations about appropriate approaches to identifying, contacting, and recruiting family members. We conclude that there is no single correct approach, but recommend a balanced approach that takes into account the nature of the particular study as well as its recruitment goals. Recruitment of family members should be viewed as part of the research protocol and should require appropriate informed consent of the already-enrolled participant. Investigators should inform prospective participants why they are being contacted, how information about them was obtained, and what will happen to that information if they decide not to participate. The recruitment process should also be sensitive to the fact that some individuals from families at increased genetic risk will have no prior knowledge of their risk status. These recommendations are put forward to promote further discussion about the advantages and disadvantages of various approaches to family-based recruitment. They suggest a framework for considering alternative recruitment strategies and their implications, as well as highlight areas in need of further empirical research. (c) 2004 Wiley-Liss, Inc.

Moving beyond caregiver burden: identifying helpful interventions for family caregivers.

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Sorrell, Jeanne M

2014-03-01

Family members serving as informal caregivers for loved ones often experience physical, psychological, emotional, social, and financial consequences that can be conceptualized as caregiver burden. As the number of older adults in our society continues to increase, there will be even more demand for family caregivers. It is important to move beyond a focus on the statistics and characteristics of caregiver burden and identify helpful interventions to reduce this burden. Interventions that decrease caregiver burden can enable family caregivers to delay placement of the individual in an institutional setting and improve quality of life for both the caregiver and care recipient. Copyright 2014, SLACK Incorporated.

Patient- and Family-Identified Problems of Traumatic Brain Injury: Value and Utility of a Target Outcome Approach to Identifying the Worst Problems

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Laraine Winter

2016-01-01

Full Text Available Purpose: This study aimed to identify the sequelae of traumatic brain injury (TBI that are most troubling to veterans with TBI and their families and identify veteran-family differences in content and ranking. Instead of standardized measures of symptom frequency or severity, which may be insensitive to change or intervention effects, we used a target outcome measure for veterans with TBI and their key family members, which elicited open-ended reports concerning the three most serious TBI-related problems. This was followed by Likert-scaled ratings of difficulty in managing the problem. Methods: In this cross-sectional study, interviews were conducted in veterans’ homes. Participants included 83 veterans with TBI diagnosed at a Veterans Affairs medical rehabilitation service and a key family member of each veteran. We utilized open-ended questions to determine the problems caused by TBI within the last month. Sociodemographic characteristics of veterans and family members, and veterans’ military and medical characteristics were collected. A coding scheme was developed to categorize open-ended responses. Results: Families identified nearly twice as many categories of problems as did veterans, and veterans and families ranked problem categories very differently. Veterans ranked cognitive and physical problems worst; families ranked emotional and interpersonal problems worst. Conclusions: Easily administered open-ended questions about the most troubling TBI-related problems yield novel insights and reveal important veteran-family discrepancies.

Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey

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Nolan Vikki G

2004-05-01

Full Text Available Abstract Background The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. Methods The 1994/1995 National Health Interview Survey (NHIS was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1 single non-familial (one individual with one birth defect; 2 single familial (more than one individual with one birth defect; 3 multiple non-familial (one individual with more than one birth defect, and 4 multiple familial (more than one individual with more than one birth defect. The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. Results Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. Conclusions Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

OpenAIRE

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.

2016-01-01

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 ...

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

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Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad; Gottsch, Clare Brooks S.; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

2016-01-01

Purpose To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. Methods Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon–intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect. Results The ophthalmic examinations of the affected individuals in these familial cases were suggestive of RP. Exclusion analyses confirmed linkage to chromosome 6p harboring TULP1 with positive two-point LOD scores. Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A>G (p.K489R), in four families. Additionally, we identified a two-base deletion in exon 4, c.286_287delGA (p.E96Gfs77*); a homozygous splice site variant in intron 14, c.1495+4A>C; and a novel missense variation in exon 15, c.1561C>T (p.P521S). All mutations segregated with the disease phenotype in the respective families and were absent in ethnically matched control chromosomes. Haplotype analysis suggested (p<10−6) that affected individuals inherited the causal mutation from a common ancestor. Conclusions Pathogenic mutations in TULP1 are responsible for the RP phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families. PMID:27440997

The validity of the family history method for identifying Alzheimer disease.

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Li, G; Aryan, M; Silverman, J M; Haroutunian, V; Perl, D P; Birstein, S; Lantz, M; Marin, D B; Mohs, R C; Davis, K L

1997-05-01

To examine the validity of the family history method for identifying Alzheimer disease (AD) by comparing family history and neuropathological diagnoses. Seventy-seven former residents of the Jewish Home and Hospital for the Aged, New York, NY, with neuropathological evaluations on record were blindly assessed for the presence of dementia and, if present, the type of dementia through family informants by telephone interviews. The Alzheimer's Disease Risk Questionnaire was used to collect demographic information and screen for possible dementia. If dementia was suspected, the Dementia Questionnaire was administered to assess the course and type of dementia, i.e., primary progressive dementia (PPD, likely AD), multiple infarct dementia, mixed dementia (i.e., PPD and multiple infarct dementia), and other dementias based on the modified Diagnostic and Statistical Manual of Mental Disorders, Third Edition, criteria. Sixty (77.9%) of 77 elderly subjects were classified as having dementia and 17 (22.1%) were without dementia by family history evaluation. Of the 60 elderly subjects with dementia, 57 (95%) were found at autopsy to have had neuropathological changes related to dementia. The sensitivity of the family history diagnosis for dementia with related neuropathological change was 0.84 (57 of 68) and the specificity was 0.67 (6 of 9). Using family history information to differentiate the type of dementia, the sensitivity for definite or probable AD (with or without another condition) was 0.69 (36 of 51) and the specificity was 0.73 (19 of 26). The majority (9 of 15) of patients testing false negative for PPD had a history of stroke associated with onset of memory changes, excluding a diagnosis of PPD. Identifying dementia, in general, and AD, in particular, has an acceptable sensitivity and specificity. As is true for direct clinical diagnosis, the major issue associated with misclassifying AD in a family history assessment is the masking effects of a coexisting non

Covalent Immobilization of Bacillus licheniformis γ-Glutamyl Transpeptidase on Aldehyde-Functionalized Magnetic Nanoparticles

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Meng-Chun Chi

2013-02-01

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.

γ-glutamyl transpeptidase 1 specifically suppresses green-light avoidance via GABAA receptors in Drosophila.

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Liu, Jiangqu; Gong, Zhefeng; Liu, Li

2014-08-01

Drosophila larvae innately show light avoidance behavior. Compared with robust blue-light avoidance, larvae exhibit relatively weaker green-light responses. In our previous screening for genes involved in larval light avoidance, compared with control w(1118) larvae, larvae with γ-glutamyl transpeptidase 1 (Ggt-1) knockdown or Ggt-1 mutation were found to exhibit higher percentage of green-light avoidance which was mediated by Rhodopsin6 (Rh6) photoreceptors. However, their responses to blue light did not change significantly. By adjusting the expression level of Ggt-1 in different tissues, we found that Ggt-1 in malpighian tubules was both necessary and sufficient for green-light avoidance. Our results showed that glutamate levels were lower in Ggt-1 null mutants compared with controls. Feeding Ggt-1 null mutants glutamate can normalize green-light avoidance, indicating that high glutamate concentrations suppressed larval green-light avoidance. However, rather than directly, glutamate affected green-light avoidance indirectly through GABA, the level of which was also lower in Ggt-1 mutants compared with controls. Mutants in glutamate decarboxylase 1, which encodes GABA synthase, and knockdown lines of the GABAA receptor, both exhibit elevated levels of green-light avoidance. Thus, our results elucidate the neurobiological mechanisms mediating green-light avoidance, which was inhibited in wild-type larvae. © 2014 International Society for Neurochemistry.

New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes

DEFF Research Database (Denmark)

Parker, Brian John; Moltke, Ida; Roth, Adam

2011-01-01

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...

An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

DEFF Research Database (Denmark)

Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola

2009-01-01

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......). 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...

Identifying and Working with Dysfunctional Families.

Science.gov (United States)

Bilynsky, Natalie Sufler; Vernaglia, Elizabeth Rudow

1999-01-01

A school counselor is often called upon to intervene when a child's progress and the classroom environment begin to suffer because of the child's dysfunctional family. The article presents a six-stage, problem-solving model for school counselors in their work with children from dysfunctional families. Presents a case example to illustrate the…

Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.

Science.gov (United States)

Pathak, Anand; Adams, Charleen D; Loud, Jennifer T; Nichols, Kathryn; Stewart, Douglas R; Greene, Mark H

2015-10-01

Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR = 11.9; 95% CI, 5.1-23.4; excess absolute risk = 7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR = 13.4; 95% CI, 1.6-48.6). Our data are the first to indicate that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. ©2015 American Association for Cancer Research.

Prospectively-Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort

Science.gov (United States)

Pathak, Anand; Adams, Charleen D.; Loud, Jennifer T.; Nichols, Kathryn; Stewart, Douglas R.; Greene, Mark H.

2015-01-01

Background Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly-penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. Methods We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Results Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR=11.9; 95% confidence interval [CI]=5.1–23.4; excess absolute risk=7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR=13.4; 95%CI=1.6–48.6). Conclusions Our data are the first indicating that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Impact Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. PMID:26265202

Structure of 6-diazo-5-oxo-norleucine-bound human gamma-glutamyl transpeptidase 1, a novel mechanism of inactivation.

Science.gov (United States)

Terzyan, Simon S; Cook, Paul F; Heroux, Annie; Hanigan, Marie H

2017-06-01

Intense efforts are underway to identify inhibitors of the enzyme gamma-glutamyl transpeptidase 1 (GGT1) which cleaves extracellular gamma-glutamyl compounds and contributes to the pathology of asthma, reperfusion injury and cancer. The glutamate analog, 6-diazo-5-oxo-norleucine (DON), inhibits GGT1. DON also inhibits many essential glutamine metabolizing enzymes rendering it too toxic for use in the clinic as a GGT1 inhibitor. We investigated the molecular mechanism of human GGT1 (hGGT1) inhibition by DON to determine possible strategies for increasing its specificity for hGGT1. DON is an irreversible inhibitor of hGGT1. The second order rate constant of inactivation was 0.052 mM -1 min -1 and the K i was 2.7 ± 0.7 mM. The crystal structure of DON-inactivated hGGT1 contained a molecule of DON without the diazo-nitrogen atoms in the active site. The overall structure of the hGGT1-DON complex resembled the structure of the apo-enzyme; however, shifts were detected in the loop forming the oxyanion hole and elements of the main chain that form the entrance to the active site. The structure of hGGT1-DON complex revealed two covalent bonds between the enzyme and inhibitor which were part of a six membered ring. The ring included the OG atom of Thr381, the reactive nucleophile of hGGT1 and the α-amine of Thr381. The structure of DON-bound hGGT1 has led to the discovery of a new mechanism of inactivation by DON that differs from its inactivation of other glutamine metabolizing enzymes, and insight into the activation of the catalytic nucleophile that initiates the hGGT1 reaction. © 2017 The Protein Society.

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.

NARCIS (Netherlands)

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.

2004-01-01

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

Metabolic syndrome is directly associated with gamma glutamyl transpeptidase elevation in Japanese women

Institute of Scientific and Technical Information of China (English)

Hiroshi Sakugawa; Fukunori Kin jo; Atsushi Saito; Tomofumi Nakayoshi; Kasen Kobashigawa; Hiroki Nakasone; Yuko Kawakami; Tsuyoshi Yamashiro; Tatsuji Maeshiro; Ko Tomimori; Satoru Miyagi

2004-01-01

AIM: This study aimed to determine whether metabolic syndrome is directly or indirectly, through fatty liver, associated with elevated gamma-glutamyl transpeptidase (GGT) levels in Japanese women.METHODS: From 4 366 women who received their annual health check-up, 4 211 women were selected for analysis.All 4 211 women were negative for both hepatitis B surface antigen and antibody to hepatitis C virus. Clinical and biochemical variables were examined by using univariate and multivariate analysis.RESULTS: A raised GGT level (＞68 IU/L) was seen in 258 (6.1%) of the 4 211 women. In univariate analysis, all variables examined (age, body mass index, blood pressure,hemoglobin concentration, fasting blood glucose,glycosylated hemoglobin A1c, cholesterol, triglyceride, and uric acid) were associated with the elevated GGT level,whereas in multivariate analysis, four variables (age ≥ 50 yr,hemoglobin ≥14 g/dL, triglyceride ≥ 150 mg/dL, and presence of diabetes) were significantly and independently associated with raised GGT level. Clinical variables predicting the presence of ultrasonographic evidence of fatty liver were also examined by multivariate analysis; four variables were associated with the presence of fatty liver: BMI ≥ 25 kg/m2,hemoglobin ≥ 14 g/dL, triglyceride≥150 mg/dL, and uric acid≥ 7 mg/dL. There was no significant association between the raised GGT level and the presence of fatty liver.Hypertriglyceridemia was significantly and independently associated with both the raised GGT level and the presence of fatty liver.CONCLUSION: Metabolic syndrome seemed to be directly,not indirectly through fatty liver, associated with the raised GGT level in Japanese women.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Science.gov (United States)

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

2016-01-01

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.

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

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Xiaodong Jiao

Full Text Available This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families, while the probability that the four familial cases have a common founder was estimated using EM and CHM-based algorithms. The expression of Crybb3 in the developing murine lens was investigated using TaqMan assays.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis localized the causal phenotype in family PKCC025 to chromosome 22q with statistically significant two-point logarithm of odds (LOD scores. Subsequently, we localized three additional families, PKCC063, PKCC131, and PKCC168 to chromosome 22q. Bidirectional Sanger sequencing identified a missense variation: c.493G>C (p.Gly165Arg in CRYBB3 that segregated with the disease phenotype in all four familial cases. This variation was not found in ethnically matched control chromosomes, the NHLBI exome variant server, or the 1000 Genomes or dbSNP databases. Interestingly, all four families harbor a unique disease haplotype that strongly suggests a common founder of the causal mutation (p<1.64E-10. We observed expression of Crybb3 in the mouse lens as early as embryonic day 15 (E15, and expression remained relatively steady throughout development.Here, we

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Science.gov (United States)

Hirvonen, Elina A M; Pitkänen, Esa; Hemminki, Kari; Aaltonen, Lauri A; Kilpivaara, Outi

2017-04-20

Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe), leading to constitutive activation of JAK-STAT signaling pathway. Familial clustering is also observed occasionally, but high-penetrance predisposition genes to PV have remained unidentified. We studied the predisposition to PV by exome sequencing (three cases) in a Finnish PV family with four patients. The 12 shared variants (maximum allowed minor allele frequency  G (p.Phe418Leu) in ZXDC, c.1931C > G (p.Pro644Arg) in ATN1, and c.701G > A (p.Arg234Gln) in LRRC3. We also observed a rare, predicted benign germline variant c.2912C > G (p.Ala971Gly) in BCORL1 in all four patients. Somatic mutations in BCORL1 have been reported in myeloid malignancies. We further screened the variants in eight PV patients in six other Finnish families, but no other carriers were found. Exome sequencing provides a powerful tool for the identification of novel variants, and understanding the familial predisposition of diseases. This is the first report on Finnish familial PV cases, and we identified three novel candidate variants that may predispose to the disease.

Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder.

Science.gov (United States)

Zhang, Tianxiao; Hou, Liping; Chen, David T; McMahon, Francis J; Wang, Jen-Chyong; Rice, John P

2018-03-01

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.

Use of thyroid-stimulating hormone tests for identifying primary hypothyroidism in family medicine patients.

Science.gov (United States)

Birk-Urovitz, Elizabeth; Elisabeth Del Giudice, M; Meaney, Christopher; Grewal, Karan

2017-09-01

To assess the use of thyroid-stimulating hormone (TSH) tests for identifying primary hypothyroidism in 2 academic family medicine settings. Descriptive study involving a retrospective electronic chart review of family medicine patients who underwent TSH testing. Two academic family practice sites: one site is within a tertiary hospital in Toronto, Ont, and the other is within a community hospital in Newmarket, Ont. A random sample of 205 adult family medicine patients who had 1 or more TSH tests for identifying potential primary hypothyroidism between July 1, 2009, and September 15, 2013. Exclusion criteria included a previous diagnosis of any thyroid condition or abnormality, as well as pregnancy or recent pregnancy within the year preceding the study period. The proportion of normal TSH test results and the proportion of TSH tests that did not conform to test-ordering guidelines. Of the 205 TSH test results, 200 (97.6%, 95% CI 94.4% to 99.2%) showed TSH levels within the normal range. All 5 patients with abnormal TSH test results had TSH levels above the upper reference limits. Nearly one-quarter (22.4%, 95% CI 16.9% to 28.8%) of tests did not conform to test-ordering guidelines. All TSH tests classified as not conforming to test-ordering guidelines showed TSH levels within normal limits. There was a significant difference ( P hypothyroidism case finding and screening was high, and the overall proportion of TSH tests that did not conform to test-ordering guidelines was relatively high as well. These results highlight a need for more consistent TSH test-ordering guidelines for primary hypothyroidism and perhaps some educational interventions to help curtail the overuse of TSH tests in the family medicine setting. Copyright© the College of Family Physicians of Canada.

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

DEFF Research Database (Denmark)

Bisgaard, M L; Ripa, R; Knudsen, Anne Louise

2004-01-01

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...

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Directory of Open Access Journals (Sweden)

Bo Gong

2015-01-01

Full Text Available Retinitis pigmentosa (RP is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437Tidentified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

NARCIS (Netherlands)

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.

2016-01-01

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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

DEFF Research Database (Denmark)

Hu, H; Haas, S A; Chelly, J

2016-01-01

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...

Father involvement: Identifying and predicting family members' shared and unique perceptions.

Science.gov (United States)

Dyer, W Justin; Day, Randal D; Harper, James M

2014-08-01

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.

A gonococcal homologue of meningococcal γ-glutamyl transpeptidase gene is a new type of bacterial pseudogene that is transcriptionally active but phenotypically silent

Directory of Open Access Journals (Sweden)

Watanabe Haruo

2005-10-01

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.

Fructose-induced aberration of metabolism in familial gout identified by 31P magnetic resonance spectroscopy

International Nuclear Information System (INIS)

Seegmiller, J.E.; Dixon, R.M.; Kemp, G.J.; Rajagopalan, B.; Radda, G.K.; Angus, P.W.; McAlindon, T.E.; Dieppe, P.

1990-01-01

The hyperuricemia responsible for the development of gouty arthritis results from a wide range of environmental factors and underlying genetically determined aberrations of metabolism. 31 P magnetic resonance spectroscopy studies of children with hereditary fructose intolerance revealed a readily detectable rise in phosphomonoesters with a marked fall in inorganic phosphate in their liver in vivo and a rise in serum urate in response to very low doses of oral fructose. Parents and some family members heterozygous for this enzyme deficiency showed a similar pattern when given a substantially larger dose of fructose. Three of the nine heterozygotes thus identified also had clinical gout, suggesting the possibility of this defect being a fairly common cause of gout. In the present study this same noninvasive technology was used to identify the same spectral pattern in 2 of the 11 families studied with hereditary gout. In one family, the index patient's three brothers and his mother all showed the fructose-induced abnormality of metabolism, in agreement with the maternal inheritance of metabolism, in agreement with the maternal inheritance of the gout in this family group. The test dose of fructose used produced a significantly larger increment in the concentration of serum urate in the patients showing the changes in 31 P magnetic resonance spectra than in the other patients with familial gout or in nonaffected members, thus suggesting a simpler method for initial screening for the defect

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

NARCIS (Netherlands)

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.

2014-01-01

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

Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study

DEFF Research Database (Denmark)

Sunde, Lone; Bisgaard, Marie Luise; Soll-Johanning, Helle

2009-01-01

(Chromosome INstability=LOH (loss of heterozygosity) and/or DNA-aneuploidy (abnormal nuclear DNA contents)) could be used as predictors of familial CRC. Formalin-fixed tissue from 97 patients with CRC (29 patients with 2 or more affected first-degree relatives (="cases"), 29 matched CRC controls without......Colonoscopy is recommended for persons with a familial risk of colorectal cancer (CRC). A familial risk is identified by a family history with CRC and/or predisposing mutation(s). However, such information may not be available. We analysed whether MSI (MicroSatellite Instability) and/or CIN...... 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...

Hyperproduction of γ-glutamyl transpeptidase from Bacillus licheniformis ER15 in the presence of high salt concentration.

Science.gov (United States)

Bindal, Shruti; Gupta, Rani

2017-02-07

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.

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

Science.gov (United States)

Zheng, Sui-Lian; Zhang, Hong-Liang; Lin, Zhen-Lang; Kang, Qian-Yan

2015-10-01

Usher syndrome (USH) is an autosomal recessive (AR) multi-sensory degenerative disorder leading to deaf-blindness. USH is clinically subdivided into three subclasses, and 10 genes have been identified thus far. Clinical and genetic heterogeneities in USH make a precise diagnosis difficult. A dominant‑like USH family in successive generations was identified, and the present study aimed to determine the genetic predisposition of this family. Whole‑exome sequencing was performed in two affected patients and an unaffected relative. Systematic data were analyzed by bioinformatic analysis to remove the candidate mutations via step‑wise filtering. Direct Sanger sequencing and co‑segregation analysis were performed in the pedigree. One novel and two known mutations in the USH2A gene were identified, and were further confirmed by direct sequencing and co‑segregation analysis. The affected mother carried compound mutations in the USH2A gene, while the unaffected father carried a heterozygous mutation. The present study demonstrates that whole‑exome sequencing is a robust approach for the molecular diagnosis of disorders with high levels of genetic heterogeneity.

An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

DEFF Research Database (Denmark)

Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola

2009-01-01

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...

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

Science.gov (United States)

Bowles, Neil E; Jou, Chuanchau J; Arrington, Cammon B; Kennedy, Brett J; Earl, Aubree; Matsunami, Norisada; Meyers, Lindsay L; Etheridge, Susan P; Saarel, Elizabeth V; Bleyl, Steven B; Yost, H Joseph; Yandell, Mark; Leppert, Mark F; Tristani-Firouzi, Martin; Gruber, Peter J

2015-12-01

Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified. Of these 11 variants, only MYH6 p.E1885K segregated with the WPW phenotype in all affected individuals and was absent in 10 unaffected family members. This variant was predicted to be damaging by in silico methods and is not present in the 1,000 genome and NHLBI exome sequencing project databases. Screening of a replication cohort of 47 unrelated WPW patients did not identify other likely causative variants in PRKAG2 or MYH6. MYH6 variants have been identified in patients with atrial septal defects, cardiomyopathies, and sick sinus syndrome. Our data highlight the pleiotropic nature of phenotypes associated with defects in this gene. © 2015 Wiley Periodicals, Inc.

Exome Analysis of a Family with Wolff–Parkinson–White Syndrome Identifies a Novel Disease Locus

Science.gov (United States)

Bowles, Neil E.; Jou, Chuanchau J.; Arrington, Cammon B.; Kennedy, Brett J.; Earl, Aubree; Matsunami, Norisada; Meyers, Lindsay L.; Etheridge, Susan P.; Saarel, Elizabeth V.; Bleyl, Steven B.; Yost, H. Joseph; Yandell, Mark; Leppert, Mark F.; Tristani-Firouzi, Martin; Gruber, Peter J.

2016-01-01

Wolff–Parkinson–White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5’ -AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified. Of these 11 variants, only MYH6 p.E1885K segregated with the WPW phenotype in all affected individuals and was absent in 10 unaffected family members. This variant was predicted to be damaging by in silico methods and is not present in the 1,000 genome and NHLBI exome sequencing project databases. Screening of a replication cohort of 47 unrelated WPW patients did not identify other likely causative variants in PRKAG2 or MYH6. MYH6 variants have been identified in patients with atrial septal defects, cardiomyopathies, and sick sinus syndrome. Our data highlight the pleiotropic nature of phenotypes associated with defects in this gene. PMID:26284702

The Baby TALK Model: An Innovative Approach to Identifying High-Risk Children and Families

Science.gov (United States)

Villalpando, Aimee Hilado; Leow, Christine; Hornstein, John

2012-01-01

This research report examines the Baby TALK model, an innovative early childhood intervention approach used to identify, recruit, and serve young children who are at-risk for developmental delays, mental health needs, and/or school failure, and their families. The report begins with a description of the model. This description is followed by an…

Transpeptidase activity of penicillin-binding protein SpoVD in peptidoglycan synthesis conditionally depends on the disulfide reductase StoA.

Science.gov (United States)

Bukowska-Faniband, Ewa; Hederstedt, Lars

2017-07-01

Endospore cortex peptidoglycan synthesis is not required for bacterial growth but essential for endospore heat resistance. It therefore constitutes an amenable system for research on peptidoglycan biogenesis. The Bacillus subtilis sporulation-specific class B penicillin-binding protein (PBP) SpoVD and many homologous PBPs contain two conserved cysteine residues of unknown function in the transpeptidase domain - one as residue x in the SxN catalytic site motif and the other in a flexible loop near the catalytic site. A disulfide bond between these residues blocks the function of SpoVD in cortex synthesis. With a combination of experiments with purified proteins and B. subtilis mutant cells, it was shown that in active SpoVD the two cysteine residues most probably interact by hydrogen bonding and that this is important for peptidoglycan synthesis in vivo. It was furthermore demonstrated that the sporulation-specific thiol-disulfide oxidoreductase StoA reduces SpoVD and that requirement of StoA for cortex synthesis can be suppressed by two completely different types of structural alterations in SpoVD. It is concluded that StoA plays a critical role mainly during maturation of SpoVD in the forespore outer membrane. The findings advance our understanding of essential PBPs and redox control of extra-cytoplasmic protein disulfides in bacterial cells. © 2017 The Authors. Molecular Microbiology Published by John Wiley & Sons Ltd.

Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder

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Chuphong Thongnak

2018-01-01

Full Text Available Autism spectrum disorder (ASD has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases. The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique. Whole-exome sequencing was performed with autism-affected children from two unrelated families. Each sample was sequenced on SOLiD 5500xl Genetic Analyzer system followed by combined bioinformatics pipeline including annotation and filtering process to identify candidate variants. Candidate variants were validated, and the segregation study with other family members was performed using Sanger sequencing. This study identified a possible causative variant for ASD, c.2951G>A, in the FGD6 gene. We demonstrated the potential for ASD genetic variants associated with ASD using whole-exome sequencing and a bioinformatics filtering procedure. These techniques could be useful in identifying possible causative ASD variants, especially in cases in which variants cannot be identified by other techniques.

Identifying family television practices to reduce children's television time

NARCIS (Netherlands)

Piotrowski, J.; Jordan, A.B.; Bleakley, A.; Hennessy, M.

2015-01-01

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

Identifying Links between Corporate Social Responsibility and Reputation: Some Considerations for Family Firms

Directory of Open Access Journals (Sweden)

Iguácel Melero-Polo

2017-07-01

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.

Getting what they need when they need it. Identifying barriers to information needs of family caregivers to manage dementia-related behavioral symptoms.

Science.gov (United States)

Werner, Nicole E; Stanislawski, Barbara; Marx, Katherine A; Watkins, Daphne C; Kobayashi, Marissa; Kales, Helen; Gitlin, Laura N

2017-02-22

Consumer health informatics (CHI) such as web-based applications may provide the platform for enabling the over 15 million family caregivers of patients with Alzheimer's Disease or related dementias the information they need when they need it to support behavioral symptom management. However, for CHI to be successful, it is necessary that it be designed to meet the specific information needs of family caregivers in the context in which caregiving occurs. A sociotechnical systems approach to CHI design can help to understand the contextual complexities of family caregiving and account for those complexities in the design of CHI for family caregivers. This study used a sociotechnical systems approach to identify barriers to meeting caregivers' information needs related to the management of dementia-related behavioral symptoms, and to derive design implications that overcome barriers for caregiver-focused web-based platforms. We have subsequently used these design implications to inform the development of a web-based platform, WeCareAdvisor,TM which provides caregivers with information and an algorithm by which to identify and manage behavioral symptoms for which they seek management strategies. We conducted 4 focus groups with family caregivers (N=26) in a Midwestern state. Qualitative content analysis of the data was guided by a sociotechnical systems framework. We identified nine categories of barriers that family caregivers confront in obtaining needed information about behavioral symptom management from which we extrapolated design implications for a web-based platform. Based on interactions within the sociotechnical system, three critical information needs were identified: 1) timely access to information, 2) access to information that is tailored or specific to caregiver's needs and contexts, and 3) usable information that can directly inform how caregivers' manage behaviors. The sociotechnical system framework is a useful approach for identifying information

Identifying socio-environmental factors that facilitate resilience among Canadian palliative family caregivers: a qualitative case study.

Science.gov (United States)

Giesbrecht, Melissa; Wolse, Faye; Crooks, Valorie A; Stajduhar, Kelli

2015-06-01

In Canada, friends and family members are becoming increasingly responsible for providing palliative care in the home. This is resulting in some caregivers experiencing high levels of stress and burden that may ultimately surpass their ability to cope. Recent palliative care research has demonstrated the potential for caregiver resilience within such contexts. This research, however, is primarily focused on exploring individual-level factors that contribute to resilience, minimizing the inherent complexity of this concept, and how it is simultaneously influenced by one's social context. Therefore, our study aims to identify socio-environmental factors that contribute to palliative family caregiver resilience in the Canadian homecare context. Drawing on ethnographic fieldnotes and semistructured interviews with family caregivers, care recipients, and homecare nurses, this secondary analysis employs an intersectionality lens and qualitative case study approach to identify socio-environmental factors that facilitate family caregivers' capacity for resilience. Following a case study methodology, two cases are purposely selected for analysis. Findings demonstrate that family caregiver resilience is influenced not only by individual-level factors but also by the social environment, which sets the lived context from which caregiving roles are experienced. Thematic findings of the two case studies revealed six socio-environmental factors that play a role in shaping resilience: access to social networks, education/knowledge/awareness, employment status, housing status, geographic location, and life-course stage. Findings contribute to existing research on caregiver resilience by empirically demonstrating the role of socio-environmental factors in caregiving experiences. Furthermore, utilizing an intersectional approach, these findings build on existing notions that resilience is a multidimensional and complex process influenced by numerous related variables that intersect

Effects of irradiation and storage on the gamma-glutamyl transpeptidase activity of garlic bulbs cv 'Red'

International Nuclear Information System (INIS)

Ceci, L.N.; Curzio, O.A.; Pomilio, A.B.

1992-01-01

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

gamma-Glutamyl transpeptidase overexpression increases metastatic growth of B16 melanoma cells in the mouse liver.

Science.gov (United States)

Obrador, Elena; Carretero, Julian; Ortega, Angel; Medina, Ignacio; Rodilla, Vicente; Pellicer, José A; Estrela, José M

2002-01-01

B16 melanoma (B16M) cells with high glutathione (GSH) content show rapid proliferation in vitro and high metastatic activity in the liver in vivo. gamma-Glutamyl transpeptidase (GGT)-mediated extracellular GSH cleavage and intracellular GSH synthesis were studied in vitro in B16M cells with high (F10) and low (F1) metastatic potential. GGT activity was modified by transfection with the human GGT gene (B16MF1/Tet-GGT cells) or by acivicin-induced inhibition. B16MF1/Tet-GGT and B16MF10 cells exhibited higher GSH content (35 +/- 6 and 40 +/- 5 nmol/10(6) cells, respectively) and GGT activity (89 +/- 9 and 37 +/- 7 mU/10(6) cells, respectively) as compared (P <.05) with B16MF1 cells (10 +/- 3 nmol GSH and 4 mU GGT/10(6) cells). Metastasis (number of foci/100 mm(3) of liver) increased in B16MF1 cells pretreated with GSH ester ( approximately 3-fold, P <.01), and decreased in B16MF1/Tet-GGT and B16MF10 cells pretreated with the GSH synthesis inhibitor L-buthionine (S,R)-sulphoximine ( approximately 5-fold and 2-fold, respectively, P <.01). Liver, kidney, brain, lung, and erythrocyte GSH content in B16MF1/Tet-GGT- or B16MF10-bearing mice decreased as compared with B16MF1- and non-tumor-bearing mice. Organic anion transporting polypeptide 1-independent sinusoidal GSH efflux from hepatocytes increased in B16MF1/Tet-GGT- or B16MF10-bearing mice ( approximately 2-fold, P <.01) as compared with non-tumor-bearing mice. Our results indicate that tumor GGT activity and an intertissue flow of GSH can regulate GSH content of melanoma cells and their metastatic growth in the liver.

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.

Science.gov (United States)

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

2004-09-01

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.

Peptidomic approach identifies cruzioseptins, a new family of potent antimicrobial peptides in the splendid leaf frog, Cruziohyla calcarifer

OpenAIRE

Proaño Bolaños, Carolina; Zhou, Mei; Wang, Lei; Luis, Coloma; Chen, Tianbao; Shaw, Christopher

2016-01-01

Phyllomedusine frogs are an extraordinary source of biologically active peptides. At least 8 families of antimicrobial peptides have been reported in this frog clade, the dermaseptins being the most diverse. By a peptidomic approach, integrating molecular cloning, Edman degradation sequencing and tandem mass spectrometry, a new family of antimicrobial peptides has been identified in Cruziohyla calcarifer. These 15 novel antimicrobial peptides of 20–32 residues in length are named cruzioseptin...

SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.

Science.gov (United States)

Dufay, J Noelia; Fernández-Murray, J Pedro; McMaster, Christopher R

2017-06-07

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.

SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability

Directory of Open Access Journals (Sweden)

J. Noelia Dufay

2017-06-01

Full Text Available 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 flx1Δ hem25Δ 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.

Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

DEFF Research Database (Denmark)

Druley, Todd E; Wang, Lihua; Lin, Shiow J

2016-01-01

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......BACKGROUND: The Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-specific rare variants at longevity-associated genes could have a similar functional impact on healthy phenotypes. METHODS......: 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...

Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families.

Science.gov (United States)

Shetty, Priya B; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C; Kardia, Sharon L R; Hanis, Craig L; Arnett, Donna K; Hunt, Steven C; Boerwinkle, Eric; Rao, Dabeeru C; Cooper, Richard S; Risch, Neil; Zhu, Xiaofeng

2015-02-01

Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African Americans. The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. The analysis was performed in 1905 unrelated African American subjects from the National Heart, Lung and Blood Institute's Family Blood Pressure Program (FBPP). Regions showing admixture evidence were followed-up with family-based association analysis in 3556 African American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age(2), sex, body mass index, and genome-wide mean ancestry to minimize the confounding caused by population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (low-density lipoprotein cholesterol), 8 (high-density lipoprotein cholesterol), 14 (triglycerides), and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52 939 single-nucleotide polymorphisms (SNPs) were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with high-density lipoprotein cholesterol (2 SNPs), low-density lipoprotein cholesterol (4 SNPs), and triglycerides (5 SNPs). The family data were used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions, including genes with known associations for cardiovascular disease. This study identified regions on chromosomes 7, 8, 14, and 19 and 11 SNPs from the fine-mapping analysis that were associated with high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides for further studies of cardiovascular disease in African Americans. © 2014 American Heart Association, Inc.

Variants for HDL-C, LDL-C and Triglycerides Identified from Admixture Mapping and Fine-Mapping Analysis in African-American Families

Science.gov (United States)

Shetty, Priya B.; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C.; Kardia, Sharon L.R.; Hanis, Craig L.; Arnett, Donna K.; Hunt, Steven C.; Boerwinkle, Eric; Rao, D.C.; Cooper, R.S.; Risch, Neil; Zhu, Xiaofeng

2015-01-01

Background Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African-Americans. Methods and Results The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides. The analysis was performed in 1,905 unrelated African-American subjects from the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Regions showing admixture evidence were followed-up with family-based association analysis in 3,556 African-American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age2, sex, body-mass-index, and genome-wide mean ancestry to minimize the confounding due to population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (LDL-C), 8 (HDL-C), 14 (triglycerides) and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52,939 SNPs were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with HDL-C (2 SNPs), LDL-C (4 SNPs) and triglycerides (5 SNPs). The family data was used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions including genes with known associations for cardiovascular disease. Conclusions This study identified regions on chromosomes 7, 8, 14 and 19 and 11 SNPs from the fine-mapping analysis that were associated with HDL-C, LDL-C and triglycerides for further studies of cardiovascular disease in African-Americans. PMID:25552592

Family Structure and Functions Identified by Persons Living with HIV/AIDS.

Science.gov (United States)

Wong-Wylie, Gina; Doherty-Poirier, Maryanne; Kieren, Dianne

1999-01-01

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)

Family Violence and Family Physicians

Science.gov (United States)

Herbert, Carol P.

1991-01-01

The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

Targeting the cell wall of Mycobacterium tuberculosis: a molecular modeling investigation of the interaction of imipenem and meropenem with L,D-transpeptidase 2.

Science.gov (United States)

Silva, José Rogério A; Bishai, William R; Govender, Thavendran; Lamichhane, Gyanu; Maguire, Glenn E M; Kruger, Hendrik G; Lameira, Jeronimo; Alves, Cláudio N

2016-01-01

The single crystal X-ray structure of the extracellular portion of the L,D-transpeptidase (ex-LdtMt2 - residues 120-408) enzyme was recently reported. It was observed that imipenem and meropenem inhibit activity of this enzyme, responsible for generating L,D-transpeptide linkages in the peptidoglycan layer of Mycobacterium tuberculosis. Imipenem is more active and isothermal titration calorimetry experiments revealed that meropenem is subjected to an entropy penalty upon binding to the enzyme. Herein, we report a molecular modeling approach to obtain a molecular view of the inhibitor/enzyme interactions. The average binding free energies for nine commercially available inhibitors were calculated using MM/GBSA and Solvation Interaction Energy (SIE) approaches and the calculated energies corresponded well with the available experimentally observed results. The method reproduces the same order of binding energies as experimentally observed for imipenem and meropenem. We have also demonstrated that SIE is a reasonably accurate and cost-effective free energy method, which can be used to predict carbapenem affinities for this enzyme. A theoretical explanation was offered for the experimental entropy penalty observed for meropenem, creating optimism that this computational model can serve as a potential computational model for other researchers in the field.

Pattern self-repetition of fingerprints, lip prints, and palatal rugae among three generations of family: A forensic approach to identify family hierarchy.

Science.gov (United States)

Mala, Sankeerti; Rathod, Vanita; Pundir, Siddharth; Dixit, Sudhanshu

2017-01-01

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.

Identifying Individual, Cultural and Asthma-Related Risk and Protective Factors Associated With Resilient Asthma Outcomes in Urban Children and Families

Science.gov (United States)

McQuaid, Elizabeth L.; Jandasek, Barbara; Kopel, Sheryl J.; Seifer, Ronald; Klein, Robert B.; Potter, Christina; Fritz, Gregory K.

2012-01-01

Objective The goal of this study is to identify individual, family/cultural, and illness-related protective factors that may minimize asthma morbidity in the context of multiple urban risks in a sample of inner-city children and families. Methods Participating families are from African-American (33), Latino (51) and non-Latino white (47) backgrounds. A total of 131 children with asthma (56% male), ages 6–13 years and their primary caregivers were included. Results Analyses supported the relationship between cumulative risks and asthma morbidity across children of the sample. Protective processes functioned differently by ethnic group. For example, Latino families exhibited higher levels of family connectedness, and this was associated with lower levels of functional limitation due to asthma, in the context of risks. Conclusions This study demonstrates the utility of examining multilevel protective processes that may guard against urban risks factors to decrease morbidity. Intervention programs for families from specific ethnic groups can be tailored to consider individual, family-based/cultural and illness-related supports that decrease stress and enhance aspects of asthma treatment. PMID:22408053

Conservation and diversification of the miR166 family in soybean and potential roles of newly identified miR166s.

Science.gov (United States)

Li, Xuyan; Xie, Xin; Li, Ji; Cui, Yuhai; Hou, Yanming; Zhai, Lulu; Wang, Xiao; Fu, Yanli; Liu, Ranran; Bian, Shaomin

2017-02-01

microRNA166 (miR166) is a highly conserved family of miRNAs implicated in a wide range of cellular and physiological processes in plants. miR166 family generally comprises multiple miR166 members in plants, which might exhibit functional redundancy and specificity. The soybean miR166 family consists of 21 members according to the miRBase database. However, the evolutionary conservation and functional diversification of miR166 family members in soybean remain poorly understood. We identified five novel miR166s in soybean by data mining approach, thus enlarging the size of miR166 family from 21 to 26 members. Phylogenetic analyses of the 26 miR166s and their precursors indicated that soybean miR166 family exhibited both evolutionary conservation and diversification, and ten pairs of miR166 precursors with high sequence identity were individually grouped into a discrete clade in the phylogenetic tree. The analysis of genomic organization and evolution of MIR166 gene family revealed that eight segmental duplications and four tandem duplications might occur during evolution of the miR166 family in soybean. The cis-elements in promoters of MIR166 family genes and their putative targets pointed to their possible contributions to the functional conservation and diversification. The targets of soybean miR166s were predicted, and the cleavage of ATHB14-LIKE transcript was experimentally validated by RACE PCR. Further, the expression patterns of the five newly identified MIR166s and 12 target genes were examined during seed development and in response to abiotic stresses, which provided important clues for dissecting their functions and isoform specificity. This study enlarged the size of soybean miR166 family from 21 to 26 members, and the 26 soybean miR166s exhibited evolutionary conservation and diversification. These findings have laid a foundation for elucidating functional conservation and diversification of miR166 family members, especially during seed development or

Identifying factors related to family management during the coping process of families with childhood chronic conditions: a multi-site study.

Science.gov (United States)

Zhang, Ying; Wei, Min; Shen, Nanping; Zhang, Yaqing

2015-01-01

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.

Identifying and Managing Undue Influence From Family Members in End-of-Life Decisions for Patients With Advanced Cancer.

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Baker, Francis X; Gallagher, Colleen M

2017-10-01

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.

Depression in Intimate Partner Violence Victims in Slovenia: A Crippling Pattern of Factors Identified in Family Practice Attendees

Directory of Open Access Journals (Sweden)

Nena Kopčavar Guček

2018-01-01

Full Text Available 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.

Depression in Intimate Partner Violence Victims in Slovenia: A Crippling Pattern of Factors Identified in Family Practice Attendees.

Science.gov (United States)

Guček, Nena Kopčavar; Selič, Polona

2018-01-26

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.

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

DEFF Research Database (Denmark)

Hansen, Lars; Eiberg, Hans Rudolf Lytchoff; Barrett, Timothy

2005-01-01

loss (LFSNHL). WFS1 variants were identified in eight subjects from seven families with WS, leading to the identification of four novel mutations, Q194X (nonsense), H313Y (missense), L313fsX360 (duplication frame shift) and F883fsX951 (deletion frame shift), and four previously reported mutations, A133...

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment

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Chung Shing-Fang

2007-05-01

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.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

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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

2017-11-01

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.

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

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Xiu-Feng Huang

Full Text Available Usher syndrome (USH is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Eight affected patients and twelve unaffected relatives from five unrelated Chinese USH families, including 2 pseudo-dominant ones, were recruited. A total of 144 known genes of inherited retinal diseases were selected for deep exome resequencing. Through systematic data analysis using established bioinformatics pipeline and segregation analysis, a number of genetic variants were released. Eleven mutations, eight of them were novel, in the USH2A gene were identified. Biparental mutations in USH2A were revealed in 2 families with pseudo-dominant inheritance. A proband was found to have triple mutations, two of them were supposed to locate in the same chromosome. In conclusion, this study revealed the genetic defects in the USH2A gene and demonstrated the robustness of targeted exome sequencing to precisely and rapidly determine genetic defects. The methodology provides a reliable strategy for routine gene diagnosis of USH.

Dissolved families

DEFF Research Database (Denmark)

Christoffersen, Mogens

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

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

DEFF Research Database (Denmark)

Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

2015-01-01

Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP......-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......-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

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

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

2017-12-01

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

Germline variant in MSX1 identified in a Dutch family with clustering of Barrett’s esophagus and esophageal adenocarcinoma

NARCIS (Netherlands)

A.M.J. van Nistelrooij (Annemarie); R. van Marion (Ronald); W.F.J. van IJcken (Wilfred); A. de Klein (Annelies); A. Wagner (Anja); K. Biermann (Katharina); M.C.W. Spaander (Manon); J.J.B. van Lanschot (Jan); W.N.M. Dinjens (Winand); B.P.L. Wijnhoven (Bas)

2017-01-01

textabstractThe vast majority of esophageal adenocarcinoma cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of Barrett’s esophagus and esophageal adenocarcinoma. This observation suggests that one or more

Survived so what? Identifying priorities for research with children and families post-paediatric intensive care unit.

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Manning, Joseph C; Hemingway, Pippa; Redsell, Sarah A

2018-03-01

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

Identifying frailty in primary care: a qualitative description of family physicians' gestalt impressions of their older adult patients.

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Korenvain, Clara; Famiyeh, Ida-Maisie; Dunn, Sheila; Whitehead, Cynthia R; Rochon, Paula A; McCarthy, Lisa M

2018-05-14

Many tools exist to guide family physicians' impressions about frailty status of older adults, but no single tool, instrument, or set of criteria has emerged as most useful. The role of physicians' subjective impressions in frailty decisions has not been studied. This study explores how family physicians conceptualize frailty, and the factors that they consider when making subjective decisions about patients' frailty statuses. Descriptive qualitative study of family physicians who practice in a large urban academic family medicine center as they participated in one-on-one "think-aloud" interviews about the frailty status of their patients aged 80 years and over. Of 23 eligible family physicians, 18 shared their impressions about the frailty status of their older adult patients and the factors influencing their decisions. Interviews were audio-recorded, transcribed, and thematically analyzed. Four themes were identified, the first of which described how physicians conceptualized frailty as a spectrum and dynamic in nature, but also struggled to conceptualize it without a formal definition in place. The remaining three themes described factors considered before determining patients' frailty statuses: physical characteristics (age, weight, medical conditions), functional characteristics (physical, cognitive, social) and living conditions (level of independence, availability of supports, physical environment). Family physicians viewed frailty as multifactorial, dynamic, and inclusive of functional and environmental factors. This conceptualization can be useful to make comprehensive and flexible evaluations of frailty status in conjunction with more objective frailty tools.

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

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Kondo, Yukiko; Koshimizu, Eriko; Megarbane, Andre; Hamanoue, Haruka; Okada, Ippei; Nishiyama, Kiyomi; Kodera, Hirofumi; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Doi, Hiroshi; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi

2013-07-01

Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA families without SMOC1 abnormality, suggesting locus heterogeneity in MLA. We aimed to identify a pathogenic mutation in one Lebanese family having an MLA-like condition without SMOC1 mutation by whole-exome sequencing (WES) combined with homozygosity mapping. A c.683C>T (p.Thr228Met) in FNBP4 was found as a primary candidate, drawing the attention that FNBP4 and SMOC1 may potentially modulate BMP signaling. Copyright © 2013 Wiley Periodicals, Inc.

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

DEFF Research Database (Denmark)

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

2016-01-01

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

Strength-based well-being indicators for Indigenous children and families: A literature review of Indigenous communities' identified well-being indicators.

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Rountree, Jennifer; Smith, Addie

2016-01-01

Mainstream child and family well-being indicators frequently are based on measuring health, economic, and social deficits, and do not reflect Indigenous holistic and strength-based definitions of health and well-being. The present article is a review of literature that features Indigenous communities' self-identified strength-based indicators of child and family well-being. The literature search included Indigenous communities from across the world, incorporating findings from American Indians and Alaska Natives, First Nations, Native Hawaiians, Māori, Aboriginal Australians, and Sámi communities. Sorting the identified indicators into the quadrants of the Relational Worldview, an Indigenous framework for well-being based on medicine wheel teachings that views health and well-being as a balance among physical, mental, contextual, and spiritual factors, the authors discuss the findings.

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

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

2016-01-01

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

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

Science.gov (United States)

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

2016-01-01

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

Family and non-family business differences in Estonia

Directory of Open Access Journals (Sweden)

Maret Kirsipuu

2014-01-01

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

Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa

Science.gov (United States)

Abdulridha-Aboud, Wissam; Kjellström, Ulrika; Andréasson, Sten

2016-01-01

Purpose To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions These two families demonstrate the extreme inter- and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype. PMID:27212874

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

Science.gov (United States)

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

2016-12-01

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

Disclosure of sperm donation: a comparison between solo mother and two-parent families with identifiable donors.

Science.gov (United States)

Freeman, Tabitha; Zadeh, Sophie; Smith, Venessa; Golombok, Susan

2016-11-01

Disclosure of donor conception to children was compared between solo mother and two-parent families with children aged 4-8 years conceived since the removal of donor anonymity in the UK. Semi-structured interviews were conducted with 31 heterosexual solo mothers and 47 heterosexual mothers with partners to investigate their decisions and experiences about identifiable donation and disclosure to their children. No significant difference was found in the proportion of mothers in each family type who had told their children about their donor conception (solo mothers 54.8%; partnered mothers 36.2%). Of those who had not told, a significantly higher proportion of solo mothers than partnered mothers intended to disclose (P parents will tell their children about their origins or their entitlement to request the identity of their donor at the age of 18 years. Further qualitative research would increase understanding of solo mothers' attitudes towards disclosure. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Genetics of familial melanoma

DEFF Research Database (Denmark)

Aoude, Lauren G; Wadt, Karin A W; Pritchard, Antonia L

2015-01-01

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...

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Science.gov (United States)

Khan, Nikhat; Lipsa, Anuja; Arunachal, Gautham; Ramadwar, Mukta; Sarin, Rajiv

2017-05-22

Colo-Rectal Cancer is a common cancer worldwide with 5-10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Caucasian population, FAP phenotype and its genotypic associations have not been widely studied in several geoethnic groups. We report the first FAP cohort from South Asia and the only non-Caucasian cohort with comprehensive analysis of APC, MUTYH, NTHL1, POLD1, POLE genes. In this cohort of 112 individuals from 53 FAP families, we detected germline APC mutations in 60 individuals (45 families) and biallelic MUTYH mutations in 4 individuals (2 families). No NTHL1, POLD1, POLE mutations were identified. Fifteen novel APC mutations and a new Indian APC mutational hotspot at codon 935 were identified. Eight very rare FAP phenotype or phenotypes rarely associated with mutations outside specific APC regions were observed. APC genotype-phenotype association studies in different geo-ethnic groups can enrich the existing knowledge about phenotypic consequences of distinct APC mutations and guide counseling and risk management in different populations. A stepwise cost-effective mutation screening approach is proposed for genetic testing of south Asian FAP patients.

Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.

Directory of Open Access Journals (Sweden)

Paula Paulo

2018-04-01

Full Text Available Considering that mutations in known prostate cancer (PrCa predisposition genes, including those responsible for hereditary breast/ovarian cancer and Lynch syndromes, explain less than 5% of early-onset/familial PrCa, we have sequenced 94 genes associated with cancer predisposition using next generation sequencing (NGS in a series of 121 PrCa patients. We found monoallelic truncating/functionally deleterious mutations in seven genes, including ATM and CHEK2, which have previously been associated with PrCa predisposition, and five new candidate PrCa associated genes involved in cancer predisposing recessive disorders, namely RAD51C, FANCD2, FANCI, CEP57 and RECQL4. Furthermore, using in silico pathogenicity prediction of missense variants among 18 genes associated with breast/ovarian cancer and/or Lynch syndrome, followed by KASP genotyping in 710 healthy controls, we identified "likely pathogenic" missense variants in ATM, BRIP1, CHEK2 and TP53. In conclusion, this study has identified putative PrCa predisposing germline mutations in 14.9% of early-onset/familial PrCa patients. Further data will be necessary to confirm the genetic heterogeneity of inherited PrCa predisposition hinted in this study.

An effective approach for annotation of protein families with low sequence similarity and conserved motifs: identifying GDSL hydrolases across the plant kingdom.

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Vujaklija, Ivan; Bielen, Ana; Paradžik, Tina; Biđin, Siniša; Goldstein, Pavle; Vujaklija, Dušica

2016-02-18

The massive accumulation of protein sequences arising from the rapid development of high-throughput sequencing, coupled with automatic annotation, results in high levels of incorrect annotations. In this study, we describe an approach to decrease annotation errors of protein families characterized by low overall sequence similarity. The GDSL lipolytic family comprises proteins with multifunctional properties and high potential for pharmaceutical and industrial applications. The number of proteins assigned to this family has increased rapidly over the last few years. In particular, the natural abundance of GDSL enzymes reported recently in plants indicates that they could be a good source of novel GDSL enzymes. We noticed that a significant proportion of annotated sequences lack specific GDSL motif(s) or catalytic residue(s). Here, we applied motif-based sequence analyses to identify enzymes possessing conserved GDSL motifs in selected proteomes across the plant kingdom. Motif-based HMM scanning (Viterbi decoding-VD and posterior decoding-PD) and the here described PD/VD protocol were successfully applied on 12 selected plant proteomes to identify sequences with GDSL motifs. A significant number of identified GDSL sequences were novel. Moreover, our scanning approach successfully detected protein sequences lacking at least one of the essential motifs (171/820) annotated by Pfam profile search (PfamA) as GDSL. Based on these analyses we provide a curated list of GDSL enzymes from the selected plants. CLANS clustering and phylogenetic analysis helped us to gain a better insight into the evolutionary relationship of all identified GDSL sequences. Three novel GDSL subfamilies as well as unreported variations in GDSL motifs were discovered in this study. In addition, analyses of selected proteomes showed a remarkable expansion of GDSL enzymes in the lycophyte, Selaginella moellendorffii. Finally, we provide a general motif-HMM scanner which is easily accessible through

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

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2012-01-01

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

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

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Barvkar Vitthal T

2012-05-01

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

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.

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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.

Peptidomic approach identifies cruzioseptins, a new family of potent antimicrobial peptides in the splendid leaf frog, Cruziohyla calcarifer.

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Proaño-Bolaños, Carolina; Zhou, Mei; Wang, Lei; Coloma, Luis A; Chen, Tianbao; Shaw, Chris

2016-09-02

Phyllomedusine frogs are an extraordinary source of biologically active peptides. At least 8 families of antimicrobial peptides have been reported in this frog clade, the dermaseptins being the most diverse. By a peptidomic approach, integrating molecular cloning, Edman degradation sequencing and tandem mass spectrometry, a new family of antimicrobial peptides has been identified in Cruziohyla calcarifer. These 15 novel antimicrobial peptides of 20-32 residues in length are named cruzioseptins. They are characterized by having a unique shared N-terminal sequence GFLD- and the sequence motifs -VALGAVSK- or -GKAAL(N/G/S) (V/A)V- in the middle of the peptide. Cruzioseptins have a broad spectrum of antimicrobial activity and low haemolytic effect. The most potent cruzioseptin was CZS-1 that had a MIC of 3.77μM against the Gram positive bacterium, Staphylococcus aureus and the yeast Candida albicans. In contrast, CZS-1 was 3-fold less potent against the Gram negative bacterium, Escherichia coli (MIC 15.11μM). CZS-1 reached 100% haemolysis at 120.87μM. Skin secretions from unexplored species such as C. calcarifer continue to demonstrate the enormous molecular diversity hidden in the amphibian skin. Some of these novel peptides may provide lead structures for the development of a new class of antibiotics and antifungals of therapeutic use. Through the combination of molecular cloning, Edman degradation sequencing, tandem mass spectrometry and MALDI-TOF MS we have identified a new family of 15 antimicrobial peptides in the skin secretion of Cruziohyla calcarifer. The novel family is named "Cruzioseptins" and contains cationic amphipathic peptides of 20-32 residues. They have a broad range of antimicrobial activity that also includes effective antifungals with low haemolytic activity. Therefore, C. calcarifer has proven to be a rich source of novel peptides, which could become leading structures for the development of novel antibiotics and antifungals of clinical

Effect of storage time at -20°C on markers used for assessment of renal damage in children: albumin, γ-glutamyl transpeptidase, N-acetyl-β-D-glucosaminidase and α1-microglobulin.

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Trachtenberg, Felicia; Barregard, Lars

2010-11-01

The objective of this study is to examine the influence of storage time at -20°C on the concentration of albumin, γ-glutamyl transpeptidase (γ-GT), N-acetyl-β-D-glucosaminidase (NAG), α(1)-microglobulin (A1M) and creatinine in a large sample of healthy children. The New England Children's Amalgam Trial followed 534 children, aged 6-10 at baseline, for 5 years, with annual urine collections. Urine samples were analysed for creatinine, albumin, γ-GT, NAG and A1M concentrations. Repeated measures analysis of covariance was used to model the effect of storage time on these concentrations. The γ-GT concentration decreased significantly with storage time at -20°C. There was also a limited decrease in NAG. Albumin, A1M and creatinine concentrations did not appear to be affected by storage time at -20°C. If it is necessary to interpret results from samples stored for a long time at -20°C, it is advisable to account for storage time in statistical models.

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

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

2014-01-01

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

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

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Hohashi, Naohiro; Honda, Junko

2011-11-01

Although the number of employees on overseas assignments accompanied by their families has increased steadily, little is known about the effects of this experience on family functioning. Japanese families on family-accompanied assignments living in Hong Kong were compared with families living in Japan (consisting of 135 and 248 paired partners, respectively). Applying an ecological framework, family functioning was examined using the Feetham Family Functioning Survey-Japanese (FFFS-J). Japanese wives living in Hong Kong rated family functioning lower, particularly in the area of "relationship between family and family members." Between paired marital partners living in Hong Kong, the level of satisfaction in the area of "relationship between family and society" was significantly lower for wives than for husbands. This study provides application of the family ecological framework in families in a multicultural environment and identifies potential areas for family assessment and intervention that may of interest to health care professionals who care for families living away from their home countries.

An overview of the GAGE cancer/testis antigen family with the inclusion of newly identified members

DEFF Research Database (Denmark)

Gjerstorff, M F; Ditzel, H J

2008-01-01

. This review describes the structure and phylogeny of the GAGE family members and presents a revised nomenclature, which will enable a more clear distinction of genes and gene products. The GAGE gene locus at chromosome X p11.23 consists of at least 16 genes, each of which is located in one of an equal number...... of highly conserved tandem repeats, and more genes remain to be identified. These genes are likely the creation of unequal replication under positive selection after the divergence of primates from other mammals. The encoded products are predicted to be highly similar small acidic proteins involved in germ...

Strategies for improving family engagement during family-centered rounds.

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

2013-04-01

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

Family identity: black-white interracial family health experience.

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Byrd, Marcia Marie; Garwick, Ann Williams

2006-02-01

The purpose of this interpretive descriptive study was to describe how eight Black-White couples with school-aged children constructed their interracial family identity through developmental transitions and interpreted race to their children. Within and across-case data analytic strategies were used to identify commonalities and variations in how Black men and White women in couple relationships formed their family identities over time. Coming together was the core theme described by the Black-White couples as they negotiated the process of forming a family identity. Four major tasks in the construction of interracial family identity emerged: (a) understanding and resolving family of origin chaos and turmoil, (b) transcending Black-White racial history, (c) articulating the interracial family's racial standpoint, and (d) explaining race to biracial children across the developmental stages. The findings guide family nurses in promoting family identity formation as a component of family health within the nurse-family partnership with Black-White mixed-race families.

Transcriptional dissection of melanoma identifies a high-risk subtype underlying TP53 family genes and epigenome deregulation

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Badal, Brateil; Solovyov, Alexander; Di Cecilia, Serena; Chan, Joseph Minhow; Chang, Li-Wei; Iqbal, Ramiz; Aydin, Iraz T.; Rajan, Geena S.; Chen, Chen; Abbate, Franco; Arora, Kshitij S.; Tanne, Antoine; Gruber, Stephen B.; Johnson, Timothy M.; Fullen, Douglas R.; Phelps, Robert; Bhardwaj, Nina; Bernstein, Emily; Ting, David T.; Brunner, Georg; Schadt, Eric E.; Greenbaum, Benjamin D.; Celebi, Julide Tok

2017-01-01

BACKGROUND. Melanoma is a heterogeneous malignancy. We set out to identify the molecular underpinnings of high-risk melanomas, those that are likely to progress rapidly, metastasize, and result in poor outcomes. METHODS. We examined transcriptome changes from benign states to early-, intermediate-, and late-stage tumors using a set of 78 treatment-naive melanocytic tumors consisting of primary melanomas of the skin and benign melanocytic lesions. We utilized a next-generation sequencing platform that enabled a comprehensive analysis of protein-coding and -noncoding RNA transcripts. RESULTS. Gene expression changes unequivocally discriminated between benign and malignant states, and a dual epigenetic and immune signature emerged defining this transition. To our knowledge, we discovered previously unrecognized melanoma subtypes. A high-risk primary melanoma subset was distinguished by a 122-epigenetic gene signature (“epigenetic” cluster) and TP53 family gene deregulation (TP53, TP63, and TP73). This subtype associated with poor overall survival and showed enrichment of cell cycle genes. Noncoding repetitive element transcripts (LINEs, SINEs, and ERVs) that can result in immunostimulatory signals recapitulating a state of “viral mimicry” were significantly repressed. The high-risk subtype and its poor predictive characteristics were validated in several independent cohorts. Additionally, primary melanomas distinguished by specific immune signatures (“immune” clusters) were identified. CONCLUSION. The TP53 family of genes and genes regulating the epigenetic machinery demonstrate strong prognostic and biological relevance during progression of early disease. Gene expression profiling of protein-coding and -noncoding RNA transcripts may be a better predictor for disease course in melanoma. This study outlines the transcriptional interplay of the cancer cell’s epigenome with the immune milieu with potential for future therapeutic targeting. FUNDING

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

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Yuen, Cynthia X; Fuligni, Andrew J; Gonzales, Nancy; Telzer, Eva H

2018-02-01

Youth who do not identify with or value their families (i.e., low family centrality) are considered to be at risk for maladjustment. However, the current study investigated whether low family centrality may be adaptive in negative family contexts (i.e., high family conflict) because youth's self-worth should be less tied to the quality of their family relationships. Multilevel models using daily diaries and latent variable interactions using longitudinal questionnaires indicated that, among a sample of 428 Mexican American adolescents (49.8% male, M age  = 15.02 years), lower family centrality was generally detrimental to youth's well-being. However, for youth in adverse family environments, low family centrality ceased to function as a risk factor. The present findings suggest that family centrality values play a more nuanced role in youth well-being than previously believed, such that low family centrality may be an adaptive response to significant family challenges.

Out of control: Identifying the role of self-control strength in family violence

NARCIS (Netherlands)

Finkenauer, C.; Buyukcan-Tetik, A.; Baumeister, R. F.; Schoemaker, K.; Bartels, M.; Vohs, K. D.

2015-01-01

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

Genome-wide analysis of the CCCH zinc finger family identifies tissue specific and stress responsive candidates in chickpea (Cicer arietinum L.).

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Pradhan, Seema; Kant, Chandra; Verma, Subodh; Bhatia, Sabhyata

2017-01-01

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.

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

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

2018-01-01

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

Family-based clusters of cognitive test performance in familial schizophrenia

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Partonen Timo

2004-07-01

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

Comparative evaluation of low-molecular-mass proteins from Mycobacterium tuberculosis identifies members of the ESAT-6 family as immunodominant T-cell antigens

DEFF Research Database (Denmark)

Skjøt, R L; Oettinger, T; Rosenkrands, I

2000-01-01

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...

Identifying patient- and family-centered outcomes relevant to inpatient versus at-home management of neutropenia in children with acute myeloid leukemia.

Science.gov (United States)

Szymczak, Julia E; Getz, Kelly D; Madding, Rachel; Fisher, Brian; Raetz, Elizabeth; Hijiya, Nobuko; Gramatges, Maria M; Henry, Meret; Mian, Amir; Arnold, Staci D; Aftandilian, Catherine; Collier, Anderson B; Aplenc, Richard

2018-04-01

Efficacy of therapeutic strategies relative to patient- and family-centered outcomes in pediatric oncology must be assessed. We sought to identify outcomes important to children with acute myeloid leukemia and their families related to inpatient versus at-home management of neutropenia. We conducted qualitative interviews with 32 children ≥8 years old and 54 parents. Analysis revealed the impact of neutropenia management strategy on siblings, parent anxiety, and child sleep quality as being outcomes of concern across respondents. These themes were used to inform the design of a questionnaire that is currently being used in a prospective, multiinstitutional comparative effectiveness trial. © 2017 Wiley Periodicals, Inc.

Social worker involvement in identifying problems and needs of families with mentally ill members

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Kovalčíková N.

2016-01-01

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.

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

Science.gov (United States)

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

2017-11-01

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

Education, Birth Order, and Family Size

OpenAIRE

Bagger, Jesper; Birchenall, Javier A.; Mansour, Hani; Urzua, Sergio

2013-01-01

We introduce a general framework to analyze the trade-off between education and family size. Our framework incorporates parental preferences for birth order and delivers theoretically consistent birth order and family size effects on children's educational attainment. We develop an empirical strategy to identify these effects. We show that the coefficient on family size in a regression of educational attainment on birth order and family size does not identify the family size effect as defined...

Synthesis and evaluation of the inhibitory activity of the four stereoisomers of the potent and selective human γ-glutamyl transpeptidase inhibitor GGsTop.

Science.gov (United States)

Watanabe, Bunta; Tabuchi, Yukiko; Wada, Kei; Hiratake, Jun

2017-11-01

2-Amino-4-{[3-(carboxymethyl)phenoxy](methoxy)phosphoryl}butanoic acid (GGsTop) is a potent, highly selective, nontoxic, and irreversible inhibitor of γ-glutamyl transpeptidase (GGT). GGsTop has been widely used in academic and medicinal research, and also as an active ingredient (Nahlsgen) in commercial anti-aging cosmetics. GGsTop consists of four stereoisomers due to the presence of two stereogenic centers, i.e., the α-carbon atom of the glutamate mimic (l/d) and the phosphorus atom (R P /S P ). In this study, each stereoisomer of GGsTop was synthesized stereoselectively and their inhibitory activity against human GGT was evaluated. The l- and d-configurations of each stereoisomer were determined by a combination of a chiral pool synthesis and chiral HPLC analysis. The synthesis of the four stereoisomers of GGsTop used chiral synthetic precursors that were separated by chiral HPLC on a preparative scale. With respect to the configuration of the α-carbon atom of the glutamate mimic, the l-isomer (k on =174M -1 s -1 ) was ca. 8-fold more potent than the d-isomer (k on =21.5M -1 s -1 ). In contrast, the configuration of the phosphorus atom is critical for GGT inhibitory activity. Based on a molecular modeling approach, the absolute configuration of the phosphorus atom of the active GGsTop isomers was postulated to be S P . The S P -isomers inhibited human GGT (k on =21.5-174M -1 s -1 ), while the R P -isomers were inactive even at concentrations of 0.1mM. Copyright © 2017 Elsevier Ltd. All rights reserved.

Comparative evaluation of low-molecular-mass proteins from Mycobacterium tuberculosis identifies members of the ESAT-6 family as immunodominant T-cell antigens

DEFF Research Database (Denmark)

Skjøt, Rikke L. V.; Oettinger, Thomas; Rosenkrands, Ida

2000-01-01

. 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...

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

Directory of Open Access Journals (Sweden)

Evgeny A Glazov

2011-03-01

Full Text Available Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and two affected children using whole-exome sequencing. The two affected daughters have clinical and radiographic features suggestive of anauxetic dysplasia (OMIM 607095, a rare form of dwarfism caused by mutations of RMRP. However, mutations of RMRP were excluded in this family by direct sequencing. Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.

Family Patterns Associated with Anorexia Nervosa.

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Grigg, Darryl N.; And Others

1989-01-01

Used family systems perspective to explore familial transactional patterns related to anorexia nervosa among 22 families with an anorexic child and 22 matched control families. Identified 7 family groups with unique family dynamics differentiating one from another. With no single family pattern characterizing families of anorexics, results…

Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

Science.gov (United States)

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

2014-04-01

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.

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

DEFF Research Database (Denmark)

Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y

2011-01-01

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...

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Science.gov (United States)

Eisenberger, Tobias; Slim, Rima; Mansour, Ahmad; Nauck, Markus; Nürnberg, Gudrun; Nürnberg, Peter; Decker, Christian; Dafinger, Claudia; Ebermann, Inga; Bergmann, Carsten; Bolz, Hanno Jörn

2012-09-02

Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

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

Science.gov (United States)

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

2008-10-01

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

Comparative toxicity of four chlorinated dibenzo-p-dioxins (CDDs) and their mixture. Pt. 2. Structure-activity relationships with inhibition of hepatic phosphoenolpyruvate carboxykinase, pyruvate carboxylase, and [gamma]-glutamyl transpeptidase activities

Energy Technology Data Exchange (ETDEWEB)

Weber, L.W.D.; Stahl, B.U.; Rozman, K. (Kansas Univ. Medical Center, Dept. of Pharmacology, Toxicology and Therapeutics, Kansas City, KS (United States) GSF, Inst. fuer Toxikologie, Neuherberg (Germany)); Lebofsky, M. (Kansas Univ. Medical Center, Dept. of Pharmacology, Toxicology and Therapeutics, Kansas City, KS (United States)); Kettrup, A. (GSF, Inst. fuer Oekologische Chemie, Neuherberg (Germany))

1992-08-01

Male Sprague-Dawley rats were treated with an LD[sub 20], LD[sub 50] and LD[sub 80] respectively, of tetra-, penta-, hexa-, hepta-CDD and a mixture of the four CDDs, all carrying chlorine substituents in the biologically crucial 2,3,7, and 8 positions. Specific activities of two key enzymes of gluconeogenesis, viz, phosphoenolpyruvate carboxylkinase (PEPCK) and pyruvate carboxylase (PC), as well as the activity of the preneoplastic marker enzyme [gamma]-glutamyl transpeptidase ([gamma]-GT), were determined in livers of CDD-treated and ad libitum-fed control animals. PEPCK activity showed evidence for dose-related inhibition on the second day after dosing; PC activity was slightly reduced, whereas [gamma]-GT activity was dose-dependently inhibited. By 8 days after dosing PEPCK activities were dose-dependently decreased after administration of all four CDDs and their mixture. PC activities were significantly reduced, but no dose-response was evident. The activity of [gamma]-GT was dose-dependently inhibited, but only to a value of 25% below control activities. It is concluded that CDDs share a common mechanism of acute toxicity, viz, inhibition of glucocorticoid-dependent enzymes which results in a derailment of intermediary metabolism not compatible with survival of the animals. (orig.).

Psychosocial Adjustment and Family Relationships: A Typology of Italian Families with a Late Adolescent.

Science.gov (United States)

Scabini, Eugenia; Lanz, Margherita; Marta, Elena

1999-01-01

Derived a typology of family relationships for 692 Italian families with at least 1 late adolescent child and studied differences between the 2 extreme types (out of 8 identified) in terms of family satisfaction and adequate functioning. Results show a better communication process in the more satisfied families. (SLD)

Examining the Possibilities of Identifying and Modeling Correlations between Product Families and Business Processes

DEFF Research Database (Denmark)

Jepsen, Allan Dam; Hvam, Lars

2010-01-01

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...... Variant Master (PVM) modeling technique and Process Flow Charts in combination, to analyze the correlation between complexity in product families and business processes. The approach is based on a visual modeling of the product assortment and the business processes. It is hypothesized that the combined...... use of the modeling techniques can allow for analysis and communication of the product family and business processes; as well as the connections between the two, with the potential of creating a single combined model. A case from a Danish industrial company is used for the purpose of the investigation...

Examining inter-family differences in intra-family (parent-adolescent) dynamics using grid-sequence analysis.

Science.gov (United States)

Brinberg, Miriam; Fosco, Gregory M; Ram, Nilam

2017-12-01

Family systems theorists have forwarded a set of theoretical principles meant to guide family scientists and practitioners in their conceptualization of patterns of family interaction-intra-family dynamics-that, over time, give rise to family and individual dysfunction and/or adaptation. In this article, we present an analytic approach that merges state space grid methods adapted from the dynamic systems literature with sequence analysis methods adapted from molecular biology into a "grid-sequence" method for studying inter-family differences in intra-family dynamics. Using dyadic data from 86 parent-adolescent dyads who provided up to 21 daily reports about connectedness, we illustrate how grid-sequence analysis can be used to identify a typology of intrafamily dynamics and to inform theory about how specific types of intrafamily dynamics contribute to adolescent behavior problems and family members' mental health. Methodologically, grid-sequence analysis extends the toolbox of techniques for analysis of family experience sampling and daily diary data. Substantively, we identify patterns of family level microdynamics that may serve as new markers of risk/protective factors and potential points for intervention in families. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Identifying Military and Combat-Specific Risk Factors for Child Adjustment: Comparing High and Low Risk Military Families and Civilian Families

Science.gov (United States)

2016-08-01

maternal parents who engaged in family readiness resources were able to mitigate some of these effects . 15. SUBJECT TERMS Spouse Child Family... children 1. Self regulation: the 36-item Early Childhood Behavior Questionnaire – Very Short Form (CBQ-VSF; Putnam & Rothbart, 2006) assesses children’s...disrupt the care children receive both as a result of deployment-related separation and the potentially destabilizing impact of deployment on the

Gendered Discourse about Family Business

Science.gov (United States)

Danes, Sharon M.; Haberman, Heather R.; McTavish, Donald

2005-01-01

Language patterns of family business owners were explored by identifying discourse styles and emphasized ideas in four presenting contexts: business, family, intersection of family and business, and business success. The content analysis supports the existence of a general discourse style within family businesses and of similarities and…

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Science.gov (United States)

2012-01-01

Background Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis. PMID:22938382

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Directory of Open Access Journals (Sweden)

Eisenberger Tobias

2012-09-01

Full Text Available Abstract Background Usher syndrome (USH is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP. We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3. Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

Family Decision Making: Benefits to Persons with Developmental Disabilities and Their Family Members

Science.gov (United States)

Neely-Barnes, Susan; Graff, J. Carolyn; Marcenko, Maureen; Weber, Lisa

2008-01-01

Family involvement in planning and choosing services has become a key intervention concept in developmental disability services. This study (N = 547) modeled patterns of family decision making and assessed benefits to persons with developmental disabilities (DDs) and their family members. A latent profile analysis identified 4 classes that were…

An Exploratory Study of the Nature of Family Resilience in Families Affected by Parental Alcohol Abuse

Science.gov (United States)

Coyle, James P.; Nochajski, Thomas; Maguin, Eugene; Safyer, Andrew; DeWit, David; Macdonald, Scott

2009-01-01

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…

Today's Changing Families and their Needs.

Science.gov (United States)

Thierman, Susan B.

This paper discusses the changing concept of the American family, identifying four major trends in family structure: (1) a dramatic increase in two-wage-earner families; (2) more working women; (3) more single-parent families; and (4) restructuring of families through divorces and remarriages. The family has been losing many of its traditional…

A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians.

Science.gov (United States)

Yan, H; Guo, Y; Yang, T-L; Zhao, L-J; Deng, H-W

2012-08-06

The cytochrome P450c17α gene (CYP17) encodes a key biosynthesis enzyme of estrogen, which is critical in regulating adipogenesis and adipocyte development in humans. We therefore hypothesized that CYP17 is a candidate gene for predicting obesity. In order to test this hypothesis, we performed a family-based association test to investigate the relationship between the CYP17 gene and obesity phenotypes in a large sample comprising 1873 subjects from 405 Caucasian nuclear families of European origin recruited by the Osteoporosis Research Center of Creighton University, USA. Both single SNPs and haplotypes were tested for associations with obesity-related phenotypes, including body mass index (BMI) and fat mass. We identified three SNPs to be significantly associated with BMI, including rs3740397, rs6163, and rs619824. We further characterized the linkage disequilibrium structure for CYP17 and found that the whole CYP17 gene was located in a single-linkage disequilibrium block. This block was observed to be significantly associated with BMI. A major haplotype in this block was significantly associated with both BMI and fat mass. In conclusion, we suggest that the CYP17 gene has an effect on obesity in the Caucasian population. Further independent studies will be needed to confirm our findings.

Family matters

DEFF Research Database (Denmark)

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

2013-01-01

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

Multiplex families with epilepsy

Science.gov (United States)

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

2016-01-01

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

Family group conferencing in Dutch child welfare : Which families are most likely to organize a family group conference?

NARCIS (Netherlands)

Dijkstra, S.; Creemers, H.E.; Asscher, J.J.; Deković, M.; Stams, G.J.J.M.

2017-01-01

Aim of the present study was to identify which families involved in child welfare are willing to organize a Family Group conference (FGc; phase 1) and which are most likely to complete a conference (phase 2). Data were used of a Dutch randomized controlled trial (N =229). First, the proportion of

Family group conferencing in Dutch child welfare : Which families are most likely to organize a family group conference?

NARCIS (Netherlands)

Dijkstra, Sharon; Creemers, Hanneke E.; Asscher, Jessica J.; Dekovic, Maja; Stams, Geert Jan J. M.

2017-01-01

Aim of the present study was to identify which families involved in child welfare are willing to organize a Family Group conference (FGc; phase 1) and which are most likely to complete a conference (phase 2). Data were used of a Dutch randomized controlled trial (N = 229). First, the proportion of

Asteroid families from cratering: Detection and models

Science.gov (United States)

Milani, A.; Cellino, A.; Knežević, Z.; Novaković, B.; Spoto, F.; Paolicchi, P.

2014-07-01

A new asteroid families classification, more efficient in the inclusion of smaller family members, shows how relevant the cratering impacts are on large asteroids. These do not disrupt the target, but just form families with the ejecta from large craters. Of the 12 largest asteroids, 8 have cratering families: number (2), (4), (5), (10), (87), (15), (3), and (31). At least another 7 cratering families can be identified. Of the cratering families identified so far, 7 have >1000 members. This imposes a remarkable change from the focus on fragmentation families of previous classifications. Such a large dataset of asteroids believed to be crater ejecta opens a new challenge: to model the crater and family forming event(s) generating them. The first problem is to identify which cratering families, found by the similarity of proper elements, can be formed at once, with a single collision. We have identified as a likely outcome of multiple collisions the families of (4), (10), (15), and (20). Of the ejecta generated by cratering, only a fraction reaches the escape velocity from the surviving parent body. The distribution of velocities at infinity, giving to the resulting family an initial position and shape in the proper elements space, is highly asymmetric with respect to the parent body. This shape is deformed by the Yarkovsky effect and by the interaction with resonances. All the largest asteroids have been subjected to large cratering events, thus the lack of a family needs to be interpreted. The most interesting case is (1) Ceres, which is not the parent body of the nearby family of (93). Two possible interpretations of the low family forming efficiency are based on either the composition of Ceres with a significant fraction of ice, protected by a thin crust, or with the larger escape velocity of ~500 m/s.

School Readiness amongst Urban Canadian Families: Risk Profiles and Family Mediation

Science.gov (United States)

Browne, Dillon T.; Wade, Mark; Prime, Heather; Jenkins, Jennifer M.

2018-01-01

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…

A systematic review of risk and protective factors associated with family related violence in refugee families.

Science.gov (United States)

Timshel, Isabelle; Montgomery, Edith; Dalgaard, Nina Thorup

2017-08-01

The current systematic review summarizes the evidence from studies examining the risk and protective factors associated with family related violence in refugee families. Data included 15 peer-reviewed qualitative and quantitative studies. In order to gain an overview of the identified risk and protective factors an ecological model was used to structure the findings. At the individual level, parental trauma experiences/mental illness, substance abuse and history of child abuse were found to be risk factors. Family level risk factors included parent-child interaction, family structure and family acculturation stress. At the societal level low socioeconomic status was identified as a risk factor. Cultural level risk factors included patriarchal beliefs. Positive parental coping strategies were a protective factor. An ecological analysis of the results suggests that family related violence in refugee families is a result of accumulating, multiple risk factors on the individual, familial, societal and cultural level. The findings suggest that individual trauma and exile related stress do not only affect the individual but have consequences at a family level. Thus, interventions targeting family related violence should not only include the individual, but the family. Copyright © 2017 Elsevier Ltd. All rights reserved.

Liver Function Indicators Performed Better to Eliminate Cardioembolic Stroke than to Identify It from Stroke Subtypes.

Science.gov (United States)

Tan, Ge; Yuan, Ruozhen; Hao, Zilong; Lei, Chunyan; Xiong, Yao; Xu, Mangmang; Liu, Ming

2017-01-01

Identifying the etiology of ischemic stroke is essential to acute management and secondary prevention. The value of liver function indicators in differentiating stroke subtypes remains to be evaluated. A total of 1333 acute ischemic stroke patients were included. Liver function indicators collected within 24 hours from stroke onset, including alanine aminotransferase, aspartate aminotransferase (AST), alkaline phosphatase, gamma-glutamyl transpeptidase (GGT), and bilirubin (BILI), were collapsed into quartiles (Q) and also dichotomized by Q1. Multivariate regression analysis was conducted to identify the independent association between liver function indicators and cardioembolic stroke (SCE). Area under the curve (AUC) of receiver operating characteristic analysis was conducted, and sensitivity (Sen), specificity (Spe), positive prospective value (PPV), and negative prospective value (NPV) were determined to evaluate the predictive value of liver function indicators for SCE. AST, GGT, and BILI were associated with SCE. After adjustment, only AST was related to SCE independently. The incidence of SCE in the Q1 of AST, GGT, and BILI, particularly in the Q1 of AST, was quite low. The ability of AST, GGT, and BILI to identify SCE was poor, with low AUC, Sen, and PPV. The value of AST, GGT, and BILI in eliminating SCE from stroke subtypes was good, with high Spe and moderate NPV, and was enhanced after combining each liver function indicator. Results of present study demonstrated that AST, GGT, and BILI, particularly AST, had a potential to eliminate SCE from stroke subtypes, and the ability of eliminating SCE would be strengthened after combining each liver function indicator together. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

The impact of war on Puerto Rican families: challenges and strengthened family relationships.

Science.gov (United States)

Magaly Freytes, I; Hannold, Elizabeth M; Resende, Rosana; Wing, Kristen; Uphold, Constance R

2013-08-01

We describe the impact of war on Puerto Rican Veterans and family members. We used qualitative research methods to collect and analyze data. We interviewed 8 Veterans and 8 family members. We used the constant comparison method to review data to identify prominent themes. Two categories emerged: (1) Challenges associated with post-deployment family reintegration, and (2) A positive aftermath of war on the family. Overall, findings indicate that OEF/OIF Veterans and family members were not prepared for the changes they encounter post-deployment. Despite these challenges, some Veterans and family members strengthened their relationships and renewed their appreciation for one another.

An unbiased expression screen for synaptogenic proteins identifies the LRRTM protein family as synaptic organizers.

Science.gov (United States)

Linhoff, Michael W; Laurén, Juha; Cassidy, Robert M; Dobie, Frederick A; Takahashi, Hideto; Nygaard, Haakon B; Airaksinen, Matti S; Strittmatter, Stephen M; Craig, Ann Marie

2009-03-12

Delineating the molecular basis of synapse development is crucial for understanding brain function. Cocultures of neurons with transfected fibroblasts have demonstrated the synapse-promoting activity of candidate molecules. Here, we performed an unbiased expression screen for synaptogenic proteins in the coculture assay using custom-made cDNA libraries. Reisolation of NGL-3/LRRC4B and neuroligin-2 accounts for a minority of positive clones, indicating that current understanding of mammalian synaptogenic proteins is incomplete. We identify LRRTM1 as a transmembrane protein that induces presynaptic differentiation in contacting axons. All four LRRTM family members exhibit synaptogenic activity, LRRTMs localize to excitatory synapses, and artificially induced clustering of LRRTMs mediates postsynaptic differentiation. We generate LRRTM1(-/-) mice and reveal altered distribution of the vesicular glutamate transporter VGLUT1, confirming an in vivo synaptic function. These results suggest a prevalence of LRR domain proteins in trans-synaptic signaling and provide a cellular basis for the reported linkage of LRRTM1 to handedness and schizophrenia.

Trends in family tourism

Directory of Open Access Journals (Sweden)

Heike A. Schänzel

2015-03-01

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

Trigger factors for familial hemiplegic migraine

DEFF Research Database (Denmark)

Hansen, Jakob Møller; Hauge, Anne Werner; Ashina, Messoud

2011-01-01

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....

Familial Colorectal Cancer: Understanding the Alphabet Soup.

Science.gov (United States)

Giglia, Matthew D; Chu, Daniel I

2016-09-01

While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for < 5% of all CRCs, have identifiable germline mutations and phenotypes, such as Lynch syndrome and familial adenomatous polyposis (FAP). Familial CRCs, which account for up to 30% of CRCs, have no identifiable germline mutation or specific pattern of inheritance, but higher-than-expected incidence within a family. Since the discovery that certain genotypes can lead to development of CRC, thousands of mutations have now been implicated in CRC. These new findings have enhanced our ability to identify at-risk patients, initiate better surveillance, and take preventative measures. Given the large number of genes now associated with hereditary and familial CRCs, clinicians should be familiar with the alphabet soup of genes to provide the highest quality of care for patients and families.

The Impact of Family Violence, Family Functioning, and Parental Partner Dynamics on Korean Juvenile Delinquency

Science.gov (United States)

Kim, Hyun-Sil; Kim, Hun-Soo

2008-01-01

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…

A Feminist Family Therapy Scale.

Science.gov (United States)

Black, Leora; Piercy, Fred P.

1991-01-01

Reports on development and psychometric properties of Feminist Family Therapy Scale (FFTS), a 17-item instrument intended to reflect degree to which family therapists conceptualize process of family therapy from feminist-informed perspective. Found that the instrument discriminated between self-identified feminists and nonfeminists, women and men,…

Family Dinners. For Parents Particularly.

Science.gov (United States)

Klein, Helen Altman

2001-01-01

Asserts that family dinners deserve attention as a positive contributor to children's well-being. Maintains that family dinners give stability to a potentially confusing day, present a place for children to express themselves, and provide children's first community. Includes ideas for helping families identify their own dinner patterns and…

Family support and family-centered care in the neonatal intensive care unit: origins, advances, impact.

Science.gov (United States)

Gooding, Judith S; Cooper, Liza G; Blaine, Arianna I; Franck, Linda S; Howse, Jennifer L; Berns, Scott D

2011-02-01

Family-centered care (FCC) has been increasingly emphasized as an important and necessary element of neonatal intensive care. FCC is conceptualized as a philosophy with a set of guiding principles, as well as a cohort of programs, services, and practices that many hospitals have embraced. Several factors drive the pressing need for family-centered care and support of families of infants in NICUs, including the increase in the number of infants in NICUs; growth in diversity of the population and their concurrent needs; identification of parental and familial stress and lack of parenting confidence; and gaps in support for families, as identified by parents and NICU staff. We explore the origins of and advances in FCC in the NICU and identify various delivery methods and aspects of FCC and family support in the NICU. We examine the research and available evidence supporting FCC in the NICU and offer recommendations for increased dissemination and for future study. Copyright © 2011 Elsevier Inc. All rights reserved.

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

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Bousfiha, Amale; Bakhchane, Amina; Charoute, Hicham; Detsouli, Mustapha; Rouba, Hassan; Charif, Majida; Lenaers, Guy; Barakat, Abdelhamid

2017-10-01

In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances. This is the first time that mutations in the GPR98 gene are described in the Moroccan deaf patients.

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

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

2016-04-01

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

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

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Molly B. Sheridan

2015-01-01

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.

"The Whole Family Suffered, so the Whole Family Needs to Recover": Thematic Analysis of Substance-Abusing Mothers' Family Therapy Sessions.

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Brakenhoff, Brittany; Slesnick, Natasha

2015-03-01

Substance abusing mothers and their children are more likely to experience a range of social, behavioral, and psychological difficulties. Despite the significant challenges faced by these families, little is known about their experiences in treatment. The current study analyzed 12 sessions of family therapy using thematic analysis to identify common themes that arose during substance abusing mothers and their children's discussion during family therapy. Mothers' ages ranged from 28 to 35 years and the children's ages ranged from 12 to 14 years. Four therapy sessions from three families were coded for a total of 12 therapy sessions. An ecological framework was used to classify themes, in which themes related to each level of the families' ecological systems were identified. Thematic analysis of the therapy sessions indicated that mothers and their children primarily discussed topics related to their relational and emotional needs. The findings indicated that substance use disordered mothers and their children have unique treatment needs that should be addressed when the mother seeks treatment. More research is needed to further clarify and confirm the observations in this study. In particular, future research should include a larger sample and quantitative methodology.

A systematic review of the literature on family functioning across all eating disorder diagnoses in comparison to control families.

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Holtom-Viesel, Anita; Allan, Steven

2014-02-01

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.

Family Intervention in First-Episode Psychosis

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Anvar Sadath

2015-11-01

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.

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

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Aalgaard Kelly, Gina

2015-01-01

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

Research Agenda on Families and Family Wellbeing for Europe

OpenAIRE

Beier, Loreen; Dechant, Anna; Haag, Christian; Rupp, Marina

2011-01-01

This report is the final outcome of FAMILYPLATFORM and the result of the encounter between more than 170 experts and stakeholders from all over Europe and beyond, creating a lively think tank on family issues. It summarises important policy questions, research gaps and research issues that were highlighted during the 18 months of working together closely within FAMILYPLATFORM. A series of societal challenges for families, family‐related policy and research have been identified through the wor...

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

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

2016-12-01

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

The ‘Blame Game’: Discourse Analysis of Family Members’ and Therapist Negotiation of Problem Definition in Systemic Family Therapy

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Pinelopi Patrika

2016-03-01

Full Text Available The present article aims at shedding light to the complex ways in which blame and responsibility are negotiated, when family members and the therapist engage in problem definition talk in systemic family therapy. The article draws from a qualitative research study which was designed to explore problem talk in systemic family therapy by means of discourse analysis methodology. Nine videotaped initial systemic family therapy sessions in which four different therapists and six different families with a variety of reported difficulties were sampled. They were transcribed verbatim and subjected to micro-analysis by means of the Discursive Action Model. In the present article, we present the detailed analysis of one of the identified patterns of blame allocation, in which family members are shown to construct the identified patient’s deviation from normality as the cause of their difficulties while the therapist is shown to attempt to exonerate blame from the identified patient by means of positive connotation. We discuss the implications of our analysis for theory development and clinical practice in the field, in the context of a growing body of related research. We also hint to the potential of discourse analysis methodology for family therapy research.

Work-family conflict and retirement preferences.

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Raymo, James M; Sweeney, Megan M

2006-05-01

This study investigates relationships between retirement preferences and perceived levels of work-family conflict. Using the large sample of 52-54-year-old respondents to the 1992 Wisconsin Longitudinal Study, we estimated multinomial logistic regression models of preferences for partial and full retirement within the next 10 years. We examined the association between retirement preferences and perceived work-family conflict, evaluated the extent to which work-family conflict was a mediating mechanism between stressful work and family circumstances and preferences to retire, and explored potential gender differences in the association between work-family conflict and preferring retirement. Work-family conflict was positively related to preferences for both full and partial retirement. Yet work-family conflict did not appear to mediate relationships between stressful work and family environments and retirement preferences, nor did significant gender differences emerge in this association. Our analyses provide the first direct evidence of the role played by work-family conflict in the early stages of the retirement process, although we were not able to identify the sources of conflict underlying this relationship. Identifying the sources of this conflict and the psychological mechanisms linking work-family conflict to retirement preferences is an important task for future researchers.

Prediction in Child Development: A Longitudinal Study of Adoptive and Nonadoptive Families. The Delaware Family Study.

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Hoopes, Janet L.

A longitudinal study was conducted to determine factors predicting successful adoptions before placement and to identify differences and similarities between adoptive and biological families. Data collected on both adopted children and on their adoptive families before placement was related to data collected on the same children and families 6…

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

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Michael V Zaragoza

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

A Feminist Family Therapist Behavior Checklist.

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Chaney, Sita E.; Piercy, Fred P.

1988-01-01

Developed Feminist Family Therapist Behavior Checklist to identify feminist family therapy skills. Used checklist to rate family therapy sessions of 60 therapists in variety of settings. Checklist discriminated between self-reported feminists and nonfeminists, between men and women, and between expert categorizations of feminist and nonfeminist…

Molecular evolution of rbcL in three gymnosperm families: identifying adaptive and coevolutionary patterns

LENUS (Irish Health Repository)

Sen, Lin

2011-06-03

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

Family Environments and Adaptation: A Clinically Applicable Typology.

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Billings, Andrew G.; Moos, Rudolf H.

1982-01-01

Presents a typology of family environments based on multidimensional assessments of a representative sample of community families. Identified seven family types. Found family differences in environmental stressors and coping resources affected family members' levels of functioning. Discusses clinical and research applications of the typology.…

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

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Deutsch, Tobias; Frese, Thomas; Sandholzer, Hagen

2014-01-01

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

"Keeping family matters behind closed doors": healthcare providers' perceptions and experiences of identifying and managing domestic violence during and after pregnancy.

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McCauley, Mary; Head, Jennifer; Lambert, Jaki; Zafar, Shamsa; van den Broek, Nynke

2017-09-22

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.

Pets in the family: practical approaches.

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Hodgson, Kate; Darling, Marcia

2011-01-01

Adapting family life cycle theory to include pets provides veterinarians with a framework for understanding and reinforcing the human-animal bond. The family genogram with pets is a practice tool that identifies all people and pets in the family, enhancing the practice of One Health at the community level.

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

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Yongheng Duan

2017-08-01

Full Text Available Abstract X-linked intellectual disability (XLID has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID, is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID. The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T, which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1 gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI protein from glycine to valine (p. Gly237Val. Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.

Serotonergic neurotoxic metabolites of ecstasy identified in rat brain.

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Jones, Douglas C; Duvauchelle, Christine; Ikegami, Aiko; Olsen, Christopher M; Lau, Serrine S; de la Torre, Rafael; Monks, Terrence J

2005-04-01

The selective serotonergic neurotoxicity of 3,4-methylenedioxyamphetamine (MDA) and 3,4-methylenedioxymethamphetamine (MDMA, ecstasy) depends on their systemic metabolism. We have recently shown that inhibition of brain endothelial cell gamma-glutamyl transpeptidase (gamma-GT) potentiates the neurotoxicity of both MDMA and MDA, indicating that metabolites that are substrates for this enzyme contribute to the neurotoxicity. Consistent with this view, glutathione (GSH) and N-acetylcysteine conjugates of alpha-methyl dopamine (alpha-MeDA) are selective neurotoxicants. However, neurotoxic metabolites of MDMA or MDA have yet to be identified in brain. Using in vivo microdialysis coupled to liquid chromatography-tandem mass spectroscopy and a high-performance liquid chromatography-coulometric electrode array system, we now show that GSH and N-acetylcysteine conjugates of N-methyl-alpha-MeDA are present in the striatum of rats administered MDMA by subcutaneous injection. Moreover, inhibition of gamma-GT with acivicin increases the concentration of GSH and N-acetylcysteine conjugates of N-methyl-alpha-MeDA in brain dialysate, and there is a direct correlation between the concentrations of metabolites in dialysate and the extent of neurotoxicity, measured by decreases in serotonin (5-HT) and 5-hydroxyindole acetic (5-HIAA) levels. Importantly, the effects of acivicin are independent of MDMA-induced hyperthermia, since acivicin-mediated potentiation of MDMA neurotoxicity occurs in the context of acivicin-mediated decreases in body temperature. Finally, we have synthesized 5-(N-acetylcystein-S-yl)-N-methyl-alpha-MeDA and established that it is a relatively potent serotonergic neurotoxicant. Together, the data support the contention that MDMA-mediated serotonergic neurotoxicity is mediated by the systemic formation of GSH and N-acetylcysteine conjugates of N-methyl-alpha-MeDA (and alpha-MeDA). The mechanisms by which such metabolites access the brain and produce selective

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

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Ribeiro, Edilza Maria

2004-01-01

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

What Does It Mean To Be a Feminist Family Therapist?

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Whipple, Vicky

This paper describes a qualitative study involving in-depth interviews with women who identify themselves as feminist family therapists. It includes a summary of the themes identified in these three questions: How did you become a feminist family therapist? How do you DO feminist family therapy? What does it mean to be a feminist family therapist?…

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

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Weisner, Thomas S; Fiese, Barbara H

2011-12-01

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

A novel stroke locus identified in a northern Sweden pedigree

DEFF Research Database (Denmark)

Janunger, T.; Nilsson-Ardnor, S.; Wiklund, P.-G.

2009-01-01

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...

Similarities and differences between families who have frequent and infrequent family meals: A qualitative investigation of low-income and minority households.

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Berge, Jerica M; Draxten, Michelle; Trofholz, Amanda; Hanson-Bradley, Carrie; Justesen, Kathryn; Slattengren, Andrew

2018-04-01

Numerous quantitative studies have examined the association between family meal frequency and child/adolescent weight and weight-related behaviors. However, limited qualitative research has been conducted to identify mealtime characteristics (e.g., child behavior during meals, rules/expectations, family dynamics) that occur during family meals that may explain why some families engage in frequent family meals and others do not. This is particularly important within racially/ethnically diverse households, as these demographic groups are at higher risk for weight-related problems. The current study aimed to identify similarities and differences in mealtime characteristics between households that have frequent and infrequent family meals within a low-income and minority population. This qualitative study included 118 parents who participated in Family Meals, LIVE!, a mixed-methods, cross-sectional study. Parents (90% female; mean age = 35) were racially/ethnically diverse (62% African American, 19% White, 4% Native American, 4% Asian, 11% Mixed/Other) and from low-income (73% eating, involving family members in meal preparation) between households having frequent and infrequent family meals. Additionally, several differences in mealtime characteristics were identified between households having frequent (i.e., importance of family meals, flexibility in the definition of family meals, family meal rules, no pressure-to-eat feeding practices) versus infrequent family meals (i.e., pressure-to-eat parent feeding practices, family meals are dinner meals only, and difficult meal time behaviors). Study findings may be useful for developing intervention targets for low-income and racially/ethnically diverse households so more families can benefit from the protective nature of family meals. Copyright © 2018 Elsevier Ltd. All rights reserved.

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

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Li, Hong

2005-01-01

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

The Caenorhabditis chemoreceptor gene families

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Robertson Hugh M

2008-10-01

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

The Caenorhabditis chemoreceptor gene families.

Science.gov (United States)

Thomas, James H; Robertson, Hugh M

2008-10-06

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

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

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Konno, Takuya; Blackburn, Patrick R; Rozen, Todd D; van Gerpen, Jay A; Ross, Owen A; Atwal, Paldeep S; Wszolek, Zbigniew K

2018-04-11

To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing. In this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation. For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation. Copyright © 2018 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families.

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Jessica J R Hudson

2011-02-01

Full Text Available The SMC5-6 protein complex is involved in the cellular response to DNA damage. It is composed of 6-8 polypeptides, of which Nse1, Nse3 and Nse4 form a tight sub-complex. MAGEG1, the mammalian ortholog of Nse3, is the founding member of the MAGE (melanoma-associated antigen protein family and Nse4 is related to the EID (E1A-like inhibitor of differentiation family of transcriptional repressors.Using site-directed mutagenesis, protein-protein interaction analyses and molecular modelling, we have identified a conserved hydrophobic surface on the C-terminal domain of Nse3 that interacts with Nse4 and identified residues in its N-terminal domain that are essential for interaction with Nse1. We show that these interactions are conserved in the human orthologs. Furthermore, interaction of MAGEG1, the mammalian ortholog of Nse3, with NSE4b, one of the mammalian orthologs of Nse4, results in transcriptional co-activation of the nuclear receptor, steroidogenic factor 1 (SF1. In an examination of the evolutionary conservation of the Nse3-Nse4 interactions, we find that several MAGE proteins can interact with at least one of the NSE4/EID proteins.We have found that, despite the evolutionary diversification of the MAGE family, the characteristic hydrophobic surface shared by all MAGE proteins from yeast to humans mediates its binding to NSE4/EID proteins. Our work provides new insights into the interactions, evolution and functions of the enigmatic MAGE proteins.

Family Resilience in the Military

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Meadows, Sarah O.; Beckett, Megan K.; Bowling, Kirby; Golinelli, Daniela; Fisher, Michael P.; Martin, Laurie T.; Meredith, Lisa S.; Osilla, Karen Chan

2016-01-01

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

"We Keep the Education Goin' at Home All the Time": Family Literacy in Low-Income African American Families of Preschoolers

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Jarrett, Robin L.; Coba-Rodriguez, Sarai

2017-01-01

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…

Theories of the Family and Policy

OpenAIRE

Veronica Jacobsen; Lindy Fursman; John Bryant; Megan Claridge; Benedikte Jensen

2004-01-01

Policy interventions that affect or are mediated through the family typically assume a behavioural response. Policy analyses proceeding from different disciplinary bases may come to quite different conclusions about the effects of policies on families, depending how individuals within families behave. This paper identifies the implications of five theories of family and individual behaviour for the likely success of policy intervention. Anthropology documents not only the universality of the ...

Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study

DEFF Research Database (Denmark)

Nieuwenhuis, Marry H; Lefevre, Jérémie H; Bülow, Steffen

2011-01-01

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....

Cancer Screening Among Patients Who Self-Identify as Muslim: Combining Self-Reported Data with Medical Records in a Family Practice Setting.

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Lofters, A K; Slater, M; Vahabi, M

2018-02-01

Cancer screening is a core component of family medicine but screening inequalities are well documented in Canada for foreign-born persons. Although people of Muslim faith and culture are the fastest growing immigrant population in Canada, there is little information in the literature about their cancer screening practices. Determining screening gaps could inform practice-based quality improvement initiatives. We conducted a retrospective chart review combining patient-level medical record data with self-reported religious affiliation to examine the relationship between religion and cancer screening in a large multi-site urban family practice. Religious affiliation was classified as Muslim, other affiliation, or atheist/no religious affiliation. 5311 patients were included in the study sample. Muslim patients were significantly less likely to prefer English for spoken communication than the other two groups, less likely to be Canadian-born, more likely to have a female family physician, and were over-represented in the lowest income quintile. Muslim women were most likely to be up-to-date on breast cancer screening (85.2 vs. 77.5 % for those with other religions vs. 69.5 % for those with no religious affiliation). There were no significant differences in cancer screening by physician sex. In this pilot study conducted within a primary care practice, we used self-reported data on religious affiliation to examine possible inequities in cancer screening and observed intriguing variations in screening by self-identified religious affiliation. Future efforts to collect and use similar patient-level data should incorporate non-official languages and intensively outreach to patients with less health system contact. Regardless, the family medicine context may be the ideal setting to collect and act on patient-level sociodemographic data such as religious affiliation.

Germline Variants of Prostate Cancer in Japanese Families.

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Takahide Hayano

Full Text Available Prostate cancer (PC is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family. We also found shared variants of BRCA2, HOXB13, and TRRAP from 59 additional small PC families (two patients per family. We identified two deleterious HOXB13 variants (F127C and G132E. Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3. The germline variant profile provides a new insight to clarify the genetic etiology and heterogeneity of PC among Japanese men.

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

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

2017-12-01

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

Birth Order, Family Size and Educational Attainment

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de Haan, Monique

2010-01-01

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…

Family Support in Children's Mental Health: A Review and Synthesis

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Hoagwood, Kimberly E.; Cavaleri, Mary A.; Olin, S. Serene; Burns, Barbara J.; Slaton, Elaine; Gruttadaro, Darcy; Hughes, Ruth

2010-01-01

A comprehensive review of structured family support programs in children's mental health was conducted in collaboration with leadership from key national family organizations. The goals were to identify typologies of family support services for which evaluation data existed and identify research gaps. Over 200 programs were examined; 50 met…

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

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

2006-05-01

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

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

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

2015-01-01

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

Parameter identifiability and redundancy: theoretical considerations.

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Mark P Little

Full Text Available BACKGROUND: Models for complex biological systems may involve a large number of parameters. It may well be that some of these parameters cannot be derived from observed data via regression techniques. Such parameters are said to be unidentifiable, the remaining parameters being identifiable. Closely related to this idea is that of redundancy, that a set of parameters can be expressed in terms of some smaller set. Before data is analysed it is critical to determine which model parameters are identifiable or redundant to avoid ill-defined and poorly convergent regression. METHODOLOGY/PRINCIPAL FINDINGS: In this paper we outline general considerations on parameter identifiability, and introduce the notion of weak local identifiability and gradient weak local identifiability. These are based on local properties of the likelihood, in particular the rank of the Hessian matrix. We relate these to the notions of parameter identifiability and redundancy previously introduced by Rothenberg (Econometrica 39 (1971 577-591 and Catchpole and Morgan (Biometrika 84 (1997 187-196. Within the widely used exponential family, parameter irredundancy, local identifiability, gradient weak local identifiability and weak local identifiability are shown to be largely equivalent. We consider applications to a recently developed class of cancer models of Little and Wright (Math Biosciences 183 (2003 111-134 and Little et al. (J Theoret Biol 254 (2008 229-238 that generalize a large number of other recently used quasi-biological cancer models. CONCLUSIONS/SIGNIFICANCE: We have shown that the previously developed concepts of parameter local identifiability and redundancy are closely related to the apparently weaker properties of weak local identifiability and gradient weak local identifiability--within the widely used exponential family these concepts largely coincide.

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

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María Ángela Mattar Yunes

2015-09-01

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

Development of a new marker system for identifying the complex members of the low-molecular-weight glutenin subunit gene family in bread wheat (Triticum aestivum L.).

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Zhang, Xiaofei; Liu, Dongcheng; Yang, Wenlong; Liu, Kunfan; Sun, Jiazhu; Guo, Xiaoli; Li, Yiwen; Wang, Daowen; Ling, Hongqing; Zhang, Aimin

2011-05-01

Low-molecular-weight glutenin subunits (LMW-GSs) play an important role in determining the bread-making quality of bread wheat. However, LMW-GSs display high polymorphic protein complexes encoded by multiple genes, and elucidating the complex LMW-GS gene family in bread wheat remains challenging. In the present study, using conventional polymerase chain reaction (PCR) with conserved primers and high-resolution capillary electrophoresis, we developed a new molecular marker system for identifying LMW-GS gene family members. Based on sequence alignment of 13 LMW-GS genes previously identified in the Chinese bread wheat variety Xiaoyan 54 and other genes available in GenBank, PCR primers were developed and assigned to conserved sequences spanning the length polymorphism regions of LMW-GS genes. After PCR amplification, 17 DNA fragments in Xiaoyan 54 were detected using capillary electrophoresis. In total, 13 fragments were identical to previously identified LMW-GS genes, and the other 4 were derived from unique LMW-GS genes by sequencing. This marker system was also used to identify LMW-GS genes in Chinese Spring and its group 1 nulli-tetrasomic lines. Among the 17 detected DNA fragments, 4 were located on chromosome 1A, 5 on 1B, and 8 on 1D. The results suggest that this marker system is useful for large-scale identification of LMW-GS genes in bread wheat varieties, and for the selection of desirable LMW-GS genes to improve the bread-making quality in wheat molecular breeding programmes.

Family intervention for schizophrenia.

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Pharoah, F M; Mari, J J; Streiner, D

2000-01-01

It has been showed that people with schizophrenia from families that express high levels of criticism, hostility, or over involvement, have more frequent relapses than people with similar problems from families that tend to be less expressive of their emotions. Psychosocial interventions designed to reduce these levels of expressed emotions within families now exist for mental health workers. These interventions are proposed as adjuncts rather than alternatives to drug treatments, and their main purpose is to decrease the stress within the family and also the rate of relapse. To estimate the effects of family psychosocial interventions in community settings for the care of those with schizophrenia or schizophrenia-like conditions compared to standard care. Electronic searches of the Cochrane Library (Issue 2, 1998), the Cochrane Schizophrenia Group's Register (June 1998), EMBASE (1981-1995) and MEDLINE (1966-1995) were undertaken and supplemented with reference searching of the identified literature. Randomised or quasi-randomised studies were selected if they focused on families of people with schizophrenia or schizoaffective disorder and compared community-orientated family-based psychosocial intervention of more than five sessions to standard care. Data were reliably extracted, and, where appropriate and possible, summated. Peto odds ratios (OR), their 95% confidence intervals (CI) and number needed to treat (NNT) were estimated. The reviewers assume that people who died or dropped out had no improvement and tested the sensitivity of the final results to this assumption. Family intervention may decrease the frequency of relapse (one year OR 0.57 CI 0.4-0.8, NNT 6.5 CI 4-14). The trend over time of this main finding is towards the null and some small but negative studies may not have been identified by the search. Family intervention may decrease hospitalisation and encourage compliance with medication but data are few and equivocal. Family intervention does not

Family matters: effects of birth order, culture, and family dynamics on surrogate decision-making.

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Su, Christopher T; McMahan, Ryan D; Williams, Brie A; Sharma, Rashmi K; Sudore, Rebecca L

2014-01-01

Cultural attitudes about medical decision-making and filial expectations may lead some surrogates to experience stress and family conflict. Thirteen focus groups with racially and ethnically diverse English and Spanish speakers from county and Veterans Affairs hospitals, senior centers, and cancer support groups were conducted to describe participants' experiences making serious or end-of-life decisions for others. Filial expectations and family dynamics related to birth order and surrogate decision-making were explored using qualitative, thematic content analysis, and overarching themes from focus group transcripts were identified. The mean age of the 69 participants was 69 ± 14, and 29% were African American, 26% were white, 26% were Asian or Pacific Islander, and 19% were Latino. Seventy percent of participants engaged in unprompted discussions about birth order and family dynamics. Six subthemes were identified within three overarching categories: communication (unspoken expectations and discussion of death as taboo), emotion (emotional stress and feelings of loneliness), and conflict (family conflict and potential solutions to prevent conflict). These findings suggest that birth order and family dynamics can have profound effects on surrogate stress and coping. Clinicians should be aware of potential unspoken filial expectations for firstborns and help facilitate communication between the patient, surrogate, and extended family to reduce stress and conflict. © Published 2013. This article is a U.S. Government work and is in the public domain in the U.S.A.

Family Matters: Effects of Birth Order, Culture, and Family Dynamics on Surrogate Decision Making

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Su, Christopher T.; McMahan, Ryan D.; Williams, Brie A.; Sharma, Rashmi K.; Sudore, Rebecca L.

2014-01-01

Cultural attitudes about medical decision making and filial expectations may lead some surrogates to experience stress and family conflict. Thirteen focus groups with racially and ethnically diverse English- and Spanish-speakers from county and Veterans hospitals, senior centers, and cancer support groups were conducted to describe participants’ experiences making serious or end-of-life decisions for others. Filial expectations and family dynamics related to birth order and surrogate decision making were explored using qualitative, thematic content analysis and overarching themes from focus group transcripts were identified. The mean age of the 69 participants was 69 years ± 14 and 29% were African American, 26% were White, 26% were Asian/Pacific Islander, and 19% were Latino. Seventy percent of participants engaged in unprompted discussions about birth order and family dynamics. Six subthemes were identified within 3 overarching categories of communication, emotion, and conflict: Communication – (1) unspoken expectations and (2) discussion of death as taboo; Emotion – (3) emotional stress and (4) feelings of loneliness; and Conflict – (5) family conflict and (6) potential solutions to prevent conflict. These findings suggest that birth order and family dynamics can have profound effects on surrogate stress and coping. Clinicians should be aware of potential unspoken filial expectations for firstborns and help facilitate communication between the patient, surrogate, and extended family to reduce stress and conflict. PMID:24383459

Multiple Family Group Therapy: An Interpersonal/Postmodern Approach.

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Thorngren, Jill M.; Kleist, David M.

2002-01-01

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…

Calling-in the Family: Dialogic Performances of Family Conflict

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Congdon, Mark, Jr.; Herakova, Liliana; Bishop, Jessica

2018-01-01

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…

Unwanted road to anaemia in transthyretin familial amyloid polyneuropathy may continue irrespective of tafamidis treatment.

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Ikeda, Tokunori; Masuda, Teruaki; Ueda, Mitsuharu; Yamashita, Taro; Misumi, Yohei; Shinriki, Satoru; Ando, Yukio

2018-01-01

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.

Communication Among Melanoma Family Members

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Bowen, Deborah J; Albrecht, Terrance; Hay, Jennifer; Eggly, Susan; Harris-Wei, Julie; Meischke, Hendrika; Burke, Wylie

2017-01-01

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

Work and Family. Employers' Views. Monograph No. 11.

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Wolcott, Ilene

The increasing number of families in which both partners work has focused attention on the relationship between work and family environments, and the consequences when employers and employees attempt to balance work and family responsibilities. This qualitative study explored whether the connections between family and work life were identified as…

Youth Mental Health, Family Practice, and Knowledge Translation Video Games about Psychosis: Family Physicians' Perspectives.

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Ferrari, Manuela; Suzanne, Archie

2017-01-01

Family practitioners face many challenges providing mental healthcare to youth. Digital technology may offer solutions, but the products often need to be adapted for primary care. This study reports on family physicians' perspectives on the relevance and feasibility of a digital knowledge translation (KT) tool, a set of video games, designed to raise awareness about psychosis, marijuana use, and facilitate access to mental health services among youth. As part of an integrated knowledge translation project, five family physicians from a family health team participated in a focus group. The focus group delved into their perspectives on treating youth with mental health concerns while exploring their views on implementing the digital KT tool in their practice. Qualitative data was analyzed using thematic analysis to identify patterns, concepts, and themes in the transcripts. Three themes were identified: (a) challenges in assessing youth with mental health concerns related to training, time constraints, and navigating the system; (b) feedback on the KT tool; and, (c) ideas on how to integrate it into a primary care practice. Family practitioners felt that the proposed video game KT tool could be used to address youth's mental health and addictions issues in primary care settings.

Resilience in families in which a member has been diagnosed with schizophrenia.

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Bishop, M; Greeff, A P

2015-09-01

Due to the extensive focus of the literature on the burden placed on families in which a member has been diagnosed with a mental illness such as schizophrenia, there is a need to identify factors that may help these families to be resilient and adapt to their crisis. The aim of this study was to identify family resilience qualities in families in which a member has been diagnosed with schizophrenia. The study comprised 42 families, represented by 33 parents and 9 siblings of the diagnosed family member. Families were recruited from three support groups within the Cape Metropolitan area, Western Cape, South Africa. Qualitative data were obtained through an open-ended question and quantitative data were collected with seven self-report questionnaires. The following family resilience qualities were identified: family income; finding support in their community; family togetherness; family communication style during crises; affirming and supportive communication patterns; family hardiness; commitment to the family; reframing crises as a challenge; and an internal locus of control within the family. The findings may be used by professionals and support group facilitators to enhance the resilience and functioning of families living with a member with schizophrenia. With approximately 1% of the world's population diagnosed with schizophrenia, it is clear that many families are affected when a member has been diagnosed. There is a need to identify factors that may help these families to be resilient. The aim of this study was to identify family resilience qualities in families in which a member has been diagnosed with schizophrenia. The following family resilience qualities were identified as resources that helped them to adapt to the many challenges put to them: family income, finding support in their community, the availability of hospitals, churches and professionals, family togetherness, family communication, family hardiness, commitment to the family, reframing crises

Identifying and exploring physical and psychological morbidity and patient and family caregiver resilience following acute wound development and/or wound blistering post orthopaedic surgery: a systematic review.

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Ousey, Karen; Edward, Karen-Leigh; Lui, Steve

2015-02-01

The aim of this article was to identify the literature that examined and explored physical and psychological morbidity and patient and family caregiver resilience following acute wound development and/or wound blistering post orthopaedic surgery. A systematic review of the literature using the databases MEDLINE, CINAHL and EMBASE was undertaken. The papers were examined using title and abstract for relevance to the primary and secondary outcomes. The primary outcome of interest was family caregiver resilience following acute wound development and/or wound blistering post orthopaedic surgery. The search yielded 275 records after removing any duplicates; eight studies were considered eligible and were reviewed as full text. Following full review, none of the studies was included in this article. To conclude, there were no papers that investigated or examined the concept of resilience in relation to the management of acute post-surgical orthopaedic wounds. Four of the papers identified, following the review process, did discuss quality of life outcomes and how these may be improved following wound development; most papers focused on the management of chronic wounds. It is apparent from the review that there is no evidence currently available that explores patient and family caregiver resilience following acute wound development and/or wound blistering post orthopaedic surgery. © 2013 The Authors. International Wound Journal © 2013 Medicalhelplines.com Inc and John Wiley & Sons Ltd.

Experiences of Family Relationships Among Donor-Conceived Families: A Meta-Ethnography.

Science.gov (United States)

Wyverkens, Elia; Van Parys, Hanna; Buysse, Ann

2015-09-01

In this qualitative evidence synthesis, we explore how family relationships are experienced by parents who used gamete donation to conceive. We systematically searched four databases (PubMed, Web of Science, PsycINFO, and ProQuest) for literature related to this topic and retrieved 25 studies. Through the analysis of the qualitative studies, a comprehensive synthesis and framework was constructed. Following the meta-ethnography approach of Noblit and Hare, four main themes were identified: (a) balancing the importance of genetic and social ties, (b) normalizing and legitimizing the family, (c) building strong family ties, and (d) minimizing the role of the donor. Underlying these four main themes, a sense of being "different" and "similar" at the same time was apparent. Findings are discussed in terms of their implications for studying and counseling donor-conceived families. © The Author(s) 2014.

The process of end-of-life care delivery to the families of elderly patients according to the Family Health Strategy.

Science.gov (United States)

Silva, Lucía; Poles, Kátia; Baliza, Michelle Freire; dos Santos Ribeiro Silva, Mariana Cristina Lobato; dos Santos, Maiara Rodrigues; Bousso, Regina Szylit

2013-02-01

To understand the process of end-of-life care delivery to the families of elderly patients according to a Family Health Strategy (FHS) team, to identify the meanings the team attributes to the experience and to build a theoretical model. Symbolic Interactionism and Grounded Theory were applied. Fourteen professionals working in an FHS located in a country town in the state of São Paulo were interviewed. Through comparative analysis, the core category overcoming challenges to assist the family and the elderly during the dying process was identified, and it was composed of the following sub-processes: Identifying situational problems, Planning a new care strategy, Managing the care and Evaluating the care process. the team faces difficulties to achieve better performance in attending to the biological and emotional needs of families, seeking to ensure dignity to the elderly at the end of their lives and expand access to healthcare.

Common mutations identified in the MLH1 gene in familial Lynch syndrome

OpenAIRE

Jisha Elias; Coral Karunakaran; Snigdha Majumder; Malini Manoharan; Rakshit Shah; Yogesh Mistry; Rajesh Ramanuj; Niraj Bhatt; Arati Khanna- Gupta

2017-01-01

Lynch syndrome (Hereditary Non Polyposis Colorectal Cancer, HNPCC) is one of the most common hereditary familial colorectal cancers (CRC) with an autosomal dominant pattern of inheritance. It accounts for 2-5% of the total CRCs reported worldwide. Although a lower incidence for CRCs have been observed in India, the last decade has shown a remarkable increase of CRC incidences (2-4 %). Features of Lynch syndrome associated colorectal cancer include early age of cancer onset, accelerated car...

Exome Sequence Analysis of 14 Families With High Myopia

DEFF Research Database (Denmark)

Kloss, Bethany A.; Tompson, Stuart W.; Whisenhunt, Kristina N.

2017-01-01

Purpose: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sang...

In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.

Science.gov (United States)

Nasir, Muhammad; Ahmad, Nafees; Sieber, Christian M K; Latif, Amir; Malik, Salman Akbar; Hameed, Abdul

2013-09-24

Xeroderma Pigmentosum (XP) is a rare skin disorder characterized by skin hypersensitivity to sunlight and abnormal pigmentation. The aim of this study was to investigate the genetic cause of a severe XP phenotype in a consanguineous Pakistani family and in silico characterization of any identified disease-associated mutation. The XP complementation group was assigned by genotyping of family for known XP loci. Genotyping data mapped the family to complementation group A locus, involving XPA gene. Mutation analysis of the candidate XP gene by DNA sequencing revealed a novel deletion mutation (c.654del A) in exon 5 of XPA gene. The c.654del A, causes frameshift, which pre-maturely terminates protein and result into a truncated product of 222 amino acid (aa) residues instead of 273 (p.Lys218AsnfsX5). In silico tools were applied to study the likelihood of changes in structural motifs and thus interaction of mutated protein with binding partners. In silico analysis of mutant protein sequence, predicted to affect the aa residue which attains coiled coil structure. The coiled coil structure has an important role in key cellular interactions, especially with DNA damage-binding protein 2 (DDB2), which has important role in DDB-mediated nucleotide excision repair (NER) system. Our findings support the fact of genetic and clinical heterogeneity in XP. The study also predicts the critical role of DDB2 binding region of XPA protein in NER pathway and opens an avenue for further research to study the functional role of the mutated protein domain.

Novel multiplexed assay for identifying SH2 domain antagonists of STAT family proteins.

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Takakuma, Kazuyuki; Ogo, Naohisa; Uehara, Yutaka; Takahashi, Susumu; Miyoshi, Nao; Asai, Akira

2013-01-01

Some of the signal transducer and activator of transcription (STAT) family members are constitutively activated in a wide variety of human tumors. The activity of STAT depends on their Src homology 2 (SH2) domain-mediated binding to sequences containing phosphorylated tyrosine. Thus, antagonizing this binding is a feasible approach to inhibiting STAT activation. We have developed a novel multiplexed assay for STAT3- and STAT5b-SH2 binding, based on amplified luminescent proximity homogeneous assay (Alpha) technology. AlphaLISA and AlphaScreen beads were combined in a single-well assay, which allowed the binding of STAT3- and STAT5b-SH2 to phosphotyrosine peptides to be simultaneously monitored. Biotin-labeled recombinant human STAT proteins were obtained as N- and C-terminal deletion mutants. The spacer length of the DIG-labeled peptide, the reaction time, and the concentration of sodium chloride were optimized to establish a HTS system with Z' values of greater than 0.6 for both STAT3- and STAT5b-SH2 binding. We performed a HTS campaign for chemical libraries using this multiplexed assay and identified hit compounds. A 2-chloro-1,4-naphthalenedione derivative, Compound 1, preferentially inhibited STAT3-SH2 binding in vitro, and the nuclear translocation of STAT3 in HeLa cells. Initial structure activity relationship (SAR) studies using the multiplexed assay showed the 3-substituent effect on both the activity and selectivity of STAT3 and STAT5b inhibition. Therefore, this multiplexed assay is useful for not only searching for potential lead compounds but also obtaining SAR data for developing new STAT3/STAT5b inhibitors.

Siblings' Power and Influence in Polyadic Family Conflict during Early Childhood

Science.gov (United States)

Della Porta, Sandra; Howe, Nina

2017-01-01

This study examined sibling behavior during polyadic family conflicts (involving three or more family members) by identifying operational conflict elements (i.e., roles, topic), power strategies, effective influence of power, and social domain argumentation. Polyadic conflict sequences (n = 210) were identified in 35/39 families with two siblings…

Discrimination and adjustment among Chinese American adolescents: family conflict and family cohesion as vulnerability and protective factors.

Science.gov (United States)

Juang, Linda P; Alvarez, Alvin A

2010-12-01

We examined racial/ethnic discrimination experiences of Chinese American adolescents to determine how discrimination is linked to poor adjustment (i.e., loneliness, anxiety, and somatization) and how the context of the family can buffer or exacerbate these links. We collected survey data from 181 Chinese American adolescents and their parents in Northern California. We conducted hierarchical regression analyses to examine main effects and 2-way interactions of perceived discrimination with family conflict and family cohesion. Discrimination was related to poorer adjustment in terms of loneliness, anxiety, and somatization, but family conflict and cohesion modified these relations. Greater family conflict exacerbated the negative effects of discrimination, and greater family cohesion buffered the negative effects of discrimination. Our findings highlight the importance of identifying family-level moderators to help adolescents and their families handle experiences of discrimination.

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

Science.gov (United States)

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

2015-08-01

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

Performance of full-sib families of Douglas-fir in pure-family and mixed-family deployments

Science.gov (United States)

Peter J. Gould; J. Bradley St.Clair; Paul D. Anderson

2011-01-01

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...

Distinct Profiling of Antimicrobial Peptide Families

KAUST Repository

Khamis, Abdullah M.

2014-11-10

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.

Distinct Profiling of Antimicrobial Peptide Families

KAUST Repository

Khamis, Abdullah M.; Essack, Magbubah; Gao, Xin; Bajic, Vladimir B.

2014-01-01

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.

Using Survey Data to Identify Opportunities to Reach Women with An Unmet Need for Family Planning: The Example of Madagascar.

Science.gov (United States)

Meekers, Dominique; Ratovonanahary, Raseliarison; Andrianantoandro, Tokinirina; Randrianarisoa, Hiangotiana

2016-01-01

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.

Family therapy and clinical psychology

OpenAIRE

Carr, Alan

1995-01-01

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...

Childhood experiences of female family-violence perpetrators.

Science.gov (United States)

Keiski, Pia; Flinck, Aune; Kaunonen, Marja; Paavilainen, Eija

2018-04-01

To explore the childhood experiences of women who have perpetrated family-violence and voluntarily sought help. The qualitative design includes in-depth, unstructured individual interviews with 19 women who have perpetrated family-violence. The categories of maltreatment exposure, parental capability, and a role of the sensitive, good girl are identified and described in this article. The findings provide guidance for nurses who encounter families at risk of female family-violence perpetration and for those developing preventive interventions for female family-violence perpetrators whose family-of-origin issues are essential in processing issues of self. © 2017 Wiley Periodicals, Inc.

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients.

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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.

Youth Mental Health, Family Practice, and Knowledge Translation Video Games about Psychosis: Family Physicians’ Perspectives

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Ferrari, Manuela; Suzanne, Archie

2017-01-01

Objective Family practitioners face many challenges providing mental healthcare to youth. Digital technology may offer solutions, but the products often need to be adapted for primary care. This study reports on family physicians’ perspectives on the relevance and feasibility of a digital knowledge translation (KT) tool, a set of video games, designed to raise awareness about psychosis, marijuana use, and facilitate access to mental health services among youth. Method As part of an integrated knowledge translation project, five family physicians from a family health team participated in a focus group. The focus group delved into their perspectives on treating youth with mental health concerns while exploring their views on implementing the digital KT tool in their practice. Qualitative data was analyzed using thematic analysis to identify patterns, concepts, and themes in the transcripts. Results Three themes were identified: (a) challenges in assessing youth with mental health concerns related to training, time constraints, and navigating the system; (b) feedback on the KT tool; and, (c) ideas on how to integrate it into a primary care practice. Conclusions Family practitioners felt that the proposed video game KT tool could be used to address youth’s mental health and addictions issues in primary care settings. PMID:29056980

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

Directory of Open Access Journals (Sweden)

Anastasia Murinova

2017-11-01

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

Attitudes of physicians providing family planning services in Egypt about recommending intrauterine device for family planning clients.

Science.gov (United States)

Aziz, Mirette; Ahmed, Sabra; Ahmed, Boshra

2017-12-01

To assess the attitudes of physicians providing family planning services at the public sector in Egypt about recommending intrauterine device (IUD) for family planning clients, and to identify the factors that could affect their attitudes. A descriptive cross sectional study, in which all the physicians providing family planning services in Assiut Governorate were invited to complete self-administered questionnaires. The study participants were recruited at the family planning sector monthly meetings of the 13 health directorates of Assiut Governorate, Upper Egypt. 250 physicians accepted to participate in the study. Bivariate and Multivariate regression analyses were performed to identify the most important predictors of recommending IUD to family planning clients when appropriate. Less than 50% of physicians would recommend IUD for clients with proper eligibility criteria; women younger than 20 years old (49.2%), women with history of ectopic pregnancy (34%), history of pelvic inflammatory diseases (40%) or sexually transmitted diseases (18.4%) and nulliparous women (22.8%). Receiving family planning formal training within the year preceding data collection and working in urban areas were the significant predictors of recommending IUD insertion for appropriate clients. Physicians providing family planning services in Upper Egypt have negative attitudes about recommending IUD for family planning clients. Continuous education and in-service training about the updated medical eligibility criteria, especially for physicians working in rural areas may reduce the unfounded medical restrictions for IUD use. Copyright © 2017 Elsevier B.V. All rights reserved.

Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease

Directory of Open Access Journals (Sweden)

Maria V. Fernández

2018-04-01

Full Text Available Gene-based tests to study the combined effect of rare variants on a particular phenotype have been widely developed for case-control studies, but their evolution and adaptation for family-based studies, especially studies of complex incomplete families, has been slower. In this study, we have performed a practical examination of all the latest gene-based methods available for family-based study designs using both simulated and real datasets. We examined the performance of several collapsing, variance-component, and transmission disequilibrium tests across eight different software packages and 22 models utilizing a cohort of 285 families (N = 1,235 with late-onset Alzheimer disease (LOAD. After a thorough examination of each of these tests, we propose a methodological approach to identify, with high confidence, genes associated with the tested phenotype and we provide recommendations to select the best software and model for family-based gene-based analyses. Additionally, in our dataset, we identified PTK2B, a GWAS candidate gene for sporadic AD, along with six novel genes (CHRD, CLCN2, HDLBP, CPAMD8, NLRP9, and MAS1L as candidate genes for familial LOAD.

Which outcomes are most important to people with aphasia and their families?

DEFF Research Database (Denmark)

Wallace, Sarah J.; Worrall, Linda; Rose, Tanya

2017-01-01

Purpose: To identify important treatment outcomes from the perspective of people with aphasia and their families using the ICF as a frame of reference. Methods: The nominal group technique was used with people with aphasia and their family members in seven countries to identify and rank important...... for research outcome measurement and clinical service provision which currently focuses on the measurement of body function outcomes. The wide range of desired outcomes generated by both people with aphasia and their family members, highlights the importance of collaborative goal setting within a family...... function components of the ICF. • The outcomes identified in this study suggest a broad role for clinicians working in aphasia rehabilitation. The categories of identified outcomes may be used clinically as a starting point in goal-setting discussions with clients and their families....

Work-family spillover revisited: Is there hope for marital happiness in the dual-earner family?

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R. Smit

2001-08-01

Full Text Available In the past few decades social scientists have increasingly become aware of the dynamic qualities of gender and marital roles in the family. The changes taking place in terms of both the role contents and role behaviour of especially dual-earner couples have been identified as aspects affecting family life to a large extent. The increasing interface between the work and family spheres, based on the so-called work-family spillover model, has led to the conventional thesis that the non-traditional role behaviour of dualearner spouses and marital dissolution are causally related. The strenuous lifestyle associated with the dual-earner family may therefore have a detrimental effect on marital and familial relationships. This article gives, in the first place, an overview of the dilemmas the dualearner family may be confronted with. In the second place, possible intervening or mediating variables that may come into play in the process of facilitating a work-family fit in the dual-earner family are discussed. Recent research suggests that these intervening variables may not only help dualearner families to cope successfully with strenuous dilemmas, but may even contribute to the experience of higher levels of marital integration and happiness.

Family violence against children: intervention of nurses from the Family Health Strategy

Directory of Open Access Journals (Sweden)

Kelianny Pinheiro Bezerra

2012-06-01

Full Text Available This study Aimed to analyze the performance of nurses of the Family Health Strategy by facing family violence against children and identifying actions to prevent the problem. It is a descriptive and exploratory research with qualitative feature, whose data were analyzed according to content analysis. 14 nurses from the Family Health Strategy of Mossoró-RN took part in the Study. Data were collected using a semi-structured questionnaire. Health promotion actions are educational activities developed after detecting the problem. Fear of reprisals by the offending agent, work overload, lack of managerial support and the difficulty for the accomplishment of interdisciplinarity, intersectorality and comprehensive care were mentioned as barriers to the confrontation of the problem.

Family, Employment, and Individual Resource-Based Antecedents of Maternal Work-Family Enrichment from Infancy through Middle Childhood

Science.gov (United States)

Zhou, Nan; Buehler, Cheryl

2015-01-01

This study used data from the NICHD Study of Early Child Care and Youth Development (N = 1,019) to examine family, employment, and individual antecedents of maternal work-family enrichment from infancy through middle childhood. Work-family conflict and important confounding factors were controlled. From the family domain, higher income-to-needs ratio and social support were associated with higher work-family enrichment. From the employment domain, greater job rewards, benefits of employment for children, and work commitment were associated with higher work-family enrichment. From the individual domain, higher maternal education and extroversion were associated with higher work-family enrichment. No family, employment, and individual characteristics were associated with work-family conflict across time except for partner intimacy. In general, the results supported antecedents of work-family enrichment that supply needed resources. The present study contributed to the literature by identifying antecedents of maternal work-family enrichment across early child developmental stages, which goes beyond examinations of particular life stages and a work-family conflict perspective. Implications for theory and practice are discussed. PMID:26641483

Swedish Listed Family Firms and Entrepreneurial Spirit

OpenAIRE

Bjuggren, Per-Olof; Palmberg, Johanna

2008-01-01

This paper investigates the entrepreneurial spirit in Swedish listed family firms. We associate family firms with entrepreneurship in the sense that there is an identifiable person that takes the uninsurable risk in the sense of Knight. This paper analysis two questions: Do entrepreneurial family firms have a higher rate of growth and do they invest in a more profit maximizing fashion than other listed firms? The analysis shows that entrepreneurial family firms in general are smaller in terms...

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.

Science.gov (United States)

Thonberg, Håkan; Chiang, Huei-Hsin; Lilius, Lena; Forsell, Charlotte; Lindström, Anna-Karin; Johansson, Charlotte; Björkström, Jenny; Thordardottir, Steinunn; Sleegers, Kristel; Van Broeckhoven, Christine; Rönnbäck, Annica; Graff, Caroline

2017-06-09

Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative. To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. In a targeted re-sequencing effort on independent index patients from 35 EOAD-families, a second SORL1 variant, c.3050-2A > G, was found which segregated with the disease in 3 affected and was absent in one unaffected family member. The c.3050-2A > G variant is located two nucleotides upstream of exon 22 and was shown to cause exon 22 skipping, resulting in a deletion of amino acids Gly1017- Glu1074 of SORL1. Furthermore, a third SORL1 variant, c.5195G > C, recently identified in a Swedish case control cohort included in the European Early-Onset Dementia (EU EOD) consortium study, was detected in two affected siblings in a third family with familial EOAD. The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. The cause of these rare monogenic forms of EOAD has proven difficult to find and the use of exome and genome sequencing may be a successful route to target them.

Identifying cultural representations of families and the health team to improve the management of severe malnutrition in childhood.

Science.gov (United States)

Castillo-Carniglia, Alvaro; Weisstaub, Sergio Gerardo; Aguirre, Patricia; Aguilar, Ana María; Araya, Magdalena

2010-04-01

Severe childhood malnutrition is no longer a priority in Latin America, but mortality of hospitalized malnourished children continues to be high, especially in Bolivia. The objective of the present study was to identify cultural representations in mothers and in health personnel that might influence the relationship between the family and the provider's health care services, thus affecting the treatment of malnourished children. We applied a flexible qualitative model of cases and controls (mothers or caregivers of both under- and well-nourished children), and in addition, health personnel. Results were analyzed following semiotics of statements. Mothers and health professionals based their cultural representations on different conceptions of health. The mothers' mindset indicated that traditional Andean medicine and public health systems are complementary and not contradictory. Conversely, health personnel expressed a univocal vision, accepting only biomedicine. Furthermore, they also expressed a negative attitude toward mothers of severely malnourished children. Results should be considered to improve ongoing local health programs.

Diet Quality and Satisfaction with Life, Family Life, and Food-Related Life across Families: A Cross-Sectional Pilot Study with Mother-Father-Adolescent Triads.

Science.gov (United States)

Schnettler, Berta; Lobos, Germán; Miranda-Zapata, Edgardo; Denegri, Marianela; Ares, Gastón; Hueche, Clementina

2017-10-29

Family is a major determinant of children's and adolescents' eating behavior. The objectives of the present study were to assess diet quality, eating habits, satisfaction with life, family life, and food-related life in mother-father-adolescent triads, and to identify profiles of families according to family members' diet quality. Questionnaires were administered to a sample of 300 two-parent families with one child over the age of 10 in the city of Temuco (Chile), including the Adapted Healthy Eating Index (AHEI), Satisfaction with Life Scale (SWLS), Satisfaction with Food-related Life (SWFoL) scale, Satisfaction with Family Life (SWFaL) scales, and questions relating to their eating habits. Positive relationships were found between the diet quality of the family members, particularly between mothers and adolescents. Three family profiles with different diet qualities were identified: "families with an unhealthy diet" (39.3%), "families in which mothers and adolescents have healthy diets, but the fathers' diets require changes" (14.3%), and "families that require changes in their diet" (46.4%). These findings stress the key role of mothers in determining family diet quality and suggest a positive relationship between diet quality and satisfaction with life.

Genetic heterogeneity in Pakistani microcephaly families

DEFF Research Database (Denmark)

Sajid Hussain, M; Bakhtiar, Syeda Marriam; Farooq, Muhammad

2013-01-01

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....

"You Needed to Rehab...Families as Well": Family Members' Own Goals for Aphasia Rehabilitation

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Howe, Tami; Davidson, Bronwyn; Worrall, Linda; Hersh, Deborah; Ferguson, Alison; Sherratt, Sue; Gilbert, Jocelyn

2012-01-01

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…

Family functioning in families with a child with Down syndrome: a mixed methods approach.

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Povee, K; Roberts, L; Bourke, J; Leonard, H

2012-10-01

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. The quantitative component examined the effect of maladaptive and autism-spectrum behaviours on the functioning of the family while the qualitative component explored the impact of having a child with Down syndrome on family holidays, family activities and general family functioning. Participants in this study were 224 primary caregivers of children with Down syndrome aged 4-25 years (57.1% male; 42.9% female) currently residing in Western Australia (74.0% in metropolitan Perth and 26.0% in rural Western Australia). Maladaptive and autism-spectrum behaviour were associated with poorer family functioning. Mean total scores on the measures of family functioning and marital adjustment were comparable to that of families of typically developing children. Consistent with the quantitative findings, normality was the most common theme to emerge in the qualitative data. Child problem behaviours were also identified by parents/carers as having a negative impact on the family. This study has implications for the development of programs to support families with a child with Down syndrome and may dispel some of the myths surrounding the impact of intellectual disability on the family. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

Parent and family factors associated with child adjustment to pediatric cancer.

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Robinson, Kristen E; Gerhardt, Cynthia A; Vannatta, Kathryn; Noll, Robert B

2007-05-01

To identify factors that influence the association between parent and child distress among families of children with cancer and comparison peers. Parent and child distress, social support, and family environment were assessed among families of 95 children with cancer (94 mothers, 67 fathers) and 98 comparison peers (97 mothers, 77 fathers). Significant associations were found between parent and child distress. For models examining the impact of fathers' distress on children, several moderators were identified (i.e., family environment, child age and gender, a cancer diagnosis, and treatment severity). Family environment also partially mediated father and child distress. Children whose parents were distressed were more likely to be distressed themselves. Subgroups of children were particularly vulnerable, indicating a need to identify further mechanisms of risk and resilience and to develop family-based interventions. Support was found for including fathers as independent sources of information in pediatric psychology research and clinical practice.

Exome sequencing reveals VCP mutations as a cause of familial ALS

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Johnson, Janel O.; Mandrioli, Jessica; Benatar, Michael; Abramzon, Yevgeniya; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Gibbs, J Raphael; Brunetti, Maura; Gronka, Susan; Wuu, Joanne; Ding, Jinhui; McCluskey, Leo; Martinez-Lage, Maria; Falcone, Dana; Hernandez, Dena G.

2010-01-01

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget’s disease and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mut...

Phylogenetic distribution of plant snoRNA families.

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Patra Bhattacharya, Deblina; Canzler, Sebastian; Kehr, Stephanie; Hertel, Jana; Grosse, Ivo; Stadler, Peter F

2016-11-24

Small nucleolar RNAs (snoRNAs) are one of the most ancient families amongst non-protein-coding RNAs. They are ubiquitous in Archaea and Eukarya but absent in bacteria. Their main function is to target chemical modifications of ribosomal RNAs. They fall into two classes, box C/D snoRNAs and box H/ACA snoRNAs, which are clearly distinguished by conserved sequence motifs and the type of chemical modification that they govern. Similarly to microRNAs, snoRNAs appear in distinct families of homologs that affect homologous targets. In animals, snoRNAs and their evolution have been studied in much detail. In plants, however, their evolution has attracted comparably little attention. In order to chart the phylogenetic distribution of individual snoRNA families in plants, we applied a sophisticated approach for identifying homologs of known plant snoRNAs across the plant kingdom. In response to the relatively fast evolution of snoRNAs, information on conserved sequence boxes, target sequences, and secondary structure is combined to identify additional snoRNAs. We identified 296 families of snoRNAs in 24 species and traced their evolution throughout the plant kingdom. Many of the plant snoRNA families comprise paralogs. We also found that targets are well-conserved for most snoRNA families. The sequence conservation of snoRNAs is sufficient to establish homologies between phyla. The degree of this conservation tapers off, however, between land plants and algae. Plant snoRNAs are frequently organized in highly conserved spatial clusters. As a resource for further investigations we provide carefully curated and annotated alignments for each snoRNA family under investigation.

A starch-binding domain identified in α-amylase (AmyP) represents a new family of carbohydrate-binding modules that contribute to enzymatic hydrolysis of soluble starch.

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Peng, Hui; Zheng, Yunyun; Chen, Maojiao; Wang, Ying; Xiao, Yazhong; Gao, Yi

2014-04-02

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.

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

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Xiaodong Gu

2016-01-01

Full Text Available DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.

Phylogenetic distribution of plant snoRNA families

DEFF Research Database (Denmark)

Patra Bhattacharya, Deblina; Canzler, Sebastian; Kehr, Stephanie

2016-01-01

RNAs and box H/ACA snoRNAs, which are clearly distinguished by conserved sequence motifs and the type of chemical modification that they govern. Similarly to microRNAs, snoRNAs appear in distinct families of homologs that affect homologous targets. In animals, snoRNAs and their evolution have been studied...... in much detail. In plants, however, their evolution has attracted comparably little attention. RESULTS: In order to chart the phylogenetic distribution of individual snoRNA families in plants, we applied a sophisticated approach for identifying homologs of known plant snoRNAs across the plant kingdom....... In response to the relatively fast evolution of snoRNAs, information on conserved sequence boxes, target sequences, and secondary structure is combined to identify additional snoRNAs. We identified 296 families of snoRNAs in 24 species and traced their evolution throughout the plant kingdom. Many of the plant...

Family model of HIV care and treatment: a retrospective study in Kenya

Science.gov (United States)

2012-01-01

Background Nyanza Province, Kenya, had the highest HIV prevalence in the country at 14.9% in 2007, more than twice the national HIV prevalence of 7.1%. Only 16% of HIV-infected adults in the country accurately knew their HIV status. Targeted strategies to reach and test individuals are urgently needed to curb the HIV epidemic. The family unit is one important portal. Methods A family model of care was designed to build on the strengths of Kenyan families. Providers use a family information table (FIT) to guide index patients through the steps of identifying family members at HIV risk, address disclosure, facilitate family testing, and work to enrol HIV-positive members and to prevent new infections. Comprehensive family-centred clinical services are built around these steps. To assess the approach, a retrospective study of patients receiving HIV care between September 2007 and September 2009 at Lumumba Health Centre in Kisumu was conducted. A random sample of FITs was examined to assess family reach. Results Through the family model of care, for each index patient, approximately 2.5 family members at risk were identified and 1.6 family members were tested. The approach was instrumental in reaching children; 61% of family members identified and tested were children. The approach also led to identifying and enrolling a high proportion of HIV- positive partners among those tested: 71% and 89%, respectively. Conclusions The family model of care is a feasible approach to broaden HIV case detection and service reach. The approach can be adapted for the local context and should continue to utilize index patient linkages, FIT adaption, and innovative methods to package services for families in a manner that builds on family support and enhances patient care and prevention efforts. Further efforts are needed to increase family member engagement. PMID:22353553

[Interactive patterns detection in family communication with adolescents].

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Gimeno Collado, Adelina; Anguera Argilaga, M Teresa; Berzosa Sanz, Amparo; Ramírez Ramírez, Luis

2006-11-01

Interactive patterns detection in family communication with adolescents. Nondistant communication is a relevant indicator for family functionality valuation. The goal of this study is to analyze this communication in order to identify specific kinds of leadership, interaction patterns and the relation between verbal and nonverbal elements in communication. The observational design exposed is an idiographic one, punctual and multidimensional, which uses field format as observation instrument. Participants were seven standardized families made up of both ancestors and an adolescent son or daughter. According to the family models analyzed, results show a predominantly democratic communication style in adults with recurrent support expressions. The sequential analysis incorporates only categories from the emitter point of view, and detects relevant sequences which show symmetric interaction between all three family members. Verbal and nonverbal channels provide complementary information. Depending on adolescents' gender different patterns in behaviour can be identified as well.

Intellectual disability in children and teenagers: Influence on family and family health. Systematic review.

Science.gov (United States)

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.

Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse.

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Garcelon, Nicolas; Neuraz, Antoine; Benoit, Vincent; Salomon, Rémi; Burgun, Anita

2017-05-01

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: journals.permissions@oup.com

Personal values of exemplary family physicians: implications for professional satisfaction in family medicine.

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Eliason, B C; Schubot, D B

1995-09-01

Personal social values have been identified as important determinants of generalists' specialty choice. However, the personal values or "guiding principles" of generalist physicians have not been identified scientifically. To establish a benchmark, we measured the personal values of exemplary family physicians because they serve as role models for current and future physicians. We also explored the relationship between personal values and practice satisfaction. We obtained a list of 330 family physicians nominated for the American Academy of Family Physicians' (AAFP) Family Doctor of the Year award for the years 1988 through 1993. We asked them to complete the Schwartz Values Questionnaire, a 56-item instrument for measuring personal values. They also answered three questions concerning practice satisfaction. The return rate was 83%. The physicians' mean age was 63 years. They had been in practice an average of 34 years, 93% were male, and 52% practiced in rural areas. Honesty was rated as the most important of the 56 values, and social power as the least important. Of the 10 value types (groups of common values), the responding physicians rated "Benevolence" as most important and "Power" as least important. Practice satisfaction correlated positively with the Benevolence value type (r = .21, P = .001) and negatively with the Power value type (r = -.15, P = .023). Of the 10 value types, Benevolence was rated the most important and Power the least important by exemplary family physicians, and both value types also correlated, positively and negatively, respectively, with their practice satisfaction. These results have implications for the selection, training, and career satisfaction of generalist physicians.

Familial aggregation of age-related macular degeneration in the Utah population.

Science.gov (United States)

Luo, Ling; Harmon, Jennifer; Yang, Xian; Chen, Haoyu; Patel, Shrena; Mineau, Geraldine; Yang, Zhenglin; Constantine, Ryan; Buehler, Jeanette; Kaminoh, Yuuki; Ma, Xiang; Wong, Tien Y; Zhang, Maonian; Zhang, Kang

2008-02-01

We examined familial aggregation and risk of age-related macular degeneration in the Utah population using a population-based case-control study. Over one million unique patient records were searched within the University of Utah Health Sciences Center and the Utah Population Database (UPDB), identifying 4764 patients with AMD. Specialized kinship analysis software was used to test for familial aggregation of disease, estimate the magnitude of familial risks, and identify families at high risk for disease. The population-attributable risk (PAR) for AMD was calculated to be 0.34. Recurrence risks in relatives indicate increased relative risks in siblings (2.95), first cousins (1.29), second cousins (1.13), and parents (5.66) of affected cases. There were 16 extended large families with AMD identified for potential use in genetic studies. Each family had five or more living affected members. The familial aggregation of AMD shown in this study exemplifies the merit of the UPDB and supports recent research demonstrating significant genetic contribution to disease development and progression.

Family Management Style Framework: a new tool with potential to assess families who have children with brain tumors.

Science.gov (United States)

Deatrick, Janet A; Thibodeaux, Annaka G; Mooney, Kim; Schmus, Cynthia; Pollack, Rosanna; Davey, Barbara Hieb

2006-01-01

Qualitative studies of families with children who have cancer or other serious illnesses have found that families often come to view their child and their lives as normal. They manage illness-related demands using family management styles that sustain usual patterns of family and child functioning. Few studies have addressed the family management styles of families who express less satisfaction with family and child functioning or who are identified by health care professionals as having difficulty with family functioning. Such families are likely to be overrepresented among those whose children are being treated for brain tumors that entail extremely burdensome treatments as well as a range of unfavorable prognoses and long-term sequelae. In fact, little is known about how these families manage on a day-to-day basis and how the interdisciplinary team can best provide supportive care to optimize their functioning. The purpose of this article is to present the Family Management Styles Framework as a tool that is useful in both clinical practice and research for assessing families who have children with cancer, including those with brain tumors.

Aligning Funding and Need for Family Planning: A Diagnostic Methodology

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Fan, Victoria Y.; Kim, Sunja; Choi, Seemoon; Grépin, Karen A.

2017-01-01

Abstract With limited international resources for family planning, donors must decide how to allocate their funds to different countries. How can a donor for family planning decide whether countries are adequately prioritized for funding? This article proposes an ordinal ranking framework to identify under‐prioritized countries by rank‐ordering countries by their need for family planning and separately rank‐ordering them by their development assistance for family planning. Countries for which the rank of the need for family planning is lower than the rank of its funding are deemed under‐prioritized. We implement this diagnostic methodology to identify under‐prioritized countries that have a higher need but lower development assistance for family planning. This approach indicates whether a country is receiving less compared to other countries with similar levels of need. PMID:29044592

Development of an empirical typology of African American family functioning.

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Mandara, Jelani; Murray, Carolyn B

2002-09-01

This study empirically identified types of African American families. Adolescents (N = 111) were assessed on family functioning. With cluster analytic methods, 3 types of families were identified. The cohesive-authoritative type was above average on parental education and income, averaged about 2 children, exhibited a high quality of family functioning and high self-esteem in adolescents. The conflictive-authoritarian type had average parental education and income, an average of 2.7 children, exhibited controlling and rigid discipline, and placed a high emphasis on achievement. The defensive-neglectful type was predominately headed by single mothers with below average education and income and averaged about 3 children. Such families displayed chaotic family processes, and adolescents tended to suffer from low self-esteem. The typology exhibited good reliability. The implications of the typology are discussed.

Family, employment, and individual resource-based antecedents of maternal work-family enrichment from infancy through middle childhood.

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Zhou, Nan; Buehler, Cheryl

2016-07-01

This study used data from the National Institute of Child Health and Human Development (NICHD) Study of Early Child Care and Youth Development (N = 1,019) to examine family, employment, and individual antecedents of maternal work-family enrichment from infancy through middle childhood. Work-family conflict and important confounding factors were controlled. From the family domain, higher income-to-needs ratio and social support were associated with higher work-family enrichment. From the employment domain, greater job rewards, benefits of employment for children, and work commitment were associated with higher work-family enrichment. From the individual domain, higher maternal education and extroversion were associated with higher work-family enrichment. No family, employment, and individual characteristics were associated with work-family conflict across time except for partner intimacy. In general, the results supported antecedents of work-family enrichment that supply needed resources. The present study contributed to the literature by identifying antecedents of maternal work-family enrichment across early child developmental stages, which goes beyond examinations of particular life stages and a work-family conflict perspective. Implications for theory and practice are discussed. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Environmental risk factors and their impact on the age of onset of schizophrenia: Comparing familial to non-familial schizophrenia.

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Scherr, Martin; Hamann, Melanie; Schwerthöffer, Dirk; Froböse, Teresa; Vukovich, Ruth; Pitschel-Walz, Gabriele; Bäuml, Josef

2012-04-01

Several risk factors for schizophrenia have yet been identified. The aim of our study was to investigate how certain childhood and adolescent risk factors predict the age of onset of psychosis in patients with and without a familial component (i.e. a relative with schizophrenia or schizoaffective disorder). Aside from the age of onset of psychosis, we examined the risk factors for schizophrenia including obstetric complications, birth during winter or spring, behavioral deviances or delayed motor and speech development, exposure to adverse life events and exposure to substance use within a group of 100 patients (45 female, 55 male) with a mean age (± standard deviation) of 35.15 ± 13.21. Birth complications and cannabis abuse are predictors for an earlier onset of schizophrenia in patients with non-familial schizophrenia. No environmental risk factors for an earlier age of onset in familial schizophrenia have been identified. Certain environmental risk factors for schizophrenia seem to have an impact on the age of onset of psychosis in non-familial schizophrenia, they do not seem to have an impact on familial schizophrenia.

Novel GABRG2 mutations cause familial febrile seizures

Science.gov (United States)

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

2015-01-01

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

Hereditary association between testicular cancer and familial ovarian cancer: A Familial Ovarian Cancer Registry study.

Science.gov (United States)

Etter, John Lewis; Eng, Kevin; Cannioto, Rikki; Kaur, Jasmine; Almohanna, Hani; Alqassim, Emad; Szender, J Brian; Joseph, Janine M; Lele, Shashikant; Odunsi, Kunle; Moysich, Kirsten B

2018-04-01

Although family history of testicular cancer is well-established as a risk factor for testicular cancer, it is unknown whether family history of ovarian cancer is associated with risk of testicular cancer. Using data from the Familial Ovarian Cancer Registry on 2636 families with multiple cases of ovarian cancer, we systematically compared relative frequencies of ovarian cancer among relatives of men with testicular and non-testicular cancers. Thirty-one families with cases of both ovarian and testicular cancer were identified. We observed that, among men with cancer, those with testicular cancer were more likely to have a mother with ovarian cancer than those with non-testicular cancers (OR = 3.32, p = 0.004). Zero paternal grandmothers of men with testicular cancer had ovarian cancer. These observations provide compelling preliminary evidence for a familial association between ovarian and testicular cancers Future studies should be designed to further investigate this association and evaluate X-linkage. Copyright © 2018 Elsevier Ltd. All rights reserved.

Identifying Children at High Risk for a Child Maltreatment Report

Science.gov (United States)

Dubowitz, Howard; Kim, Jeongeun; Black, Maureen M.; Weisbart, Cindy; Semiatin, Joshua; Magder, Laurence S.

2011-01-01

Objective: To help professionals identify factors that place families at risk for future child maltreatment, to facilitate necessary services and to potentially help prevent abuse and neglect. Method: The data are from a prospective, longitudinal study of 332 low-income families recruited from urban pediatric primary care clinics, followed for…

Food in the family. Bringing young people back in.

Science.gov (United States)

Hunt, Geoffrey; Fazio, Adam; MacKenzie, Kathleen; Moloney, Molly

2011-04-01

This article analyzes eating and beliefs about family meals in the qualitative interview narratives of 30 "at-risk" gang-involved young women in the San Francisco Bay Area. We begin our examination of consumption practices with a study of households and identify three major types-extended, single-parent and blended. Within these households, food purchasing and consumption activities are varied, and in many cases, our respondents rely upon extended family members and non-kin relations for support. In examining eating within the family, we identify two sets of practices and meanings: eating alone, and eating with others. Eating alone is symbolic of independence from one's family of origin, or is the result of familial conflict at the dinner table; however, it does not necessarily change our respondents' eating patterns. Eating with others in the family remains important, and many of the young women value family meals, although there are significant obstacles to eating regularly with the entire nuclear family. Many of these young women play an important role in the purchasing and preparation of food for family members as well. This paper highlights the importance of understanding family eating practices from the perspective of young people in the family, whose contribution to family ingestive practices has tended to be underestimated in much of available research literature. Copyright © 2011 Elsevier Ltd. All rights reserved.

Asbestos: Protect Your Family

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... 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 ...

Diet Quality and Satisfaction with Life, Family Life, and Food-Related Life across Families: A Cross-Sectional Pilot Study with Mother-Father-Adolescent Triads

Directory of Open Access Journals (Sweden)

Berta Schnettler

2017-10-01

Full Text Available Family is a major determinant of children’s and adolescents’ eating behavior. The objectives of the present study were to assess diet quality, eating habits, satisfaction with life, family life, and food-related life in mother–father–adolescent triads, and to identify profiles of families according to family members’ diet quality. Questionnaires were administered to a sample of 300 two-parent families with one child over the age of 10 in the city of Temuco (Chile, including the Adapted Healthy Eating Index (AHEI, Satisfaction with Life Scale (SWLS, Satisfaction with Food-related Life (SWFoL scale, Satisfaction with Family Life (SWFaL scales, and questions relating to their eating habits. Positive relationships were found between the diet quality of the family members, particularly between mothers and adolescents. Three family profiles with different diet qualities were identified: “families with an unhealthy diet” (39.3%, “families in which mothers and adolescents have healthy diets, but the fathers’ diets require changes” (14.3%, and “families that require changes in their diet” (46.4%. These findings stress the key role of mothers in determining family diet quality and suggest a positive relationship between diet quality and satisfaction with life.

Diet Quality and Satisfaction with Life, Family Life, and Food-Related Life across Families: A Cross-Sectional Pilot Study with Mother-Father-Adolescent Triads

Science.gov (United States)

Lobos, Germán; Miranda-Zapata, Edgardo; Denegri, Marianela; Ares, Gastón; Hueche, Clementina

2017-01-01

Family is a major determinant of children’s and adolescents’ eating behavior. The objectives of the present study were to assess diet quality, eating habits, satisfaction with life, family life, and food-related life in mother–father–adolescent triads, and to identify profiles of families according to family members’ diet quality. Questionnaires were administered to a sample of 300 two-parent families with one child over the age of 10 in the city of Temuco (Chile), including the Adapted Healthy Eating Index (AHEI), Satisfaction with Life Scale (SWLS), Satisfaction with Food-related Life (SWFoL) scale, Satisfaction with Family Life (SWFaL) scales, and questions relating to their eating habits. Positive relationships were found between the diet quality of the family members, particularly between mothers and adolescents. Three family profiles with different diet qualities were identified: “families with an unhealthy diet” (39.3%), “families in which mothers and adolescents have healthy diets, but the fathers’ diets require changes” (14.3%), and “families that require changes in their diet” (46.4%). These findings stress the key role of mothers in determining family diet quality and suggest a positive relationship between diet quality and satisfaction with life. PMID:29109387

Clinical and pathologic findings of myocarditis in two families with dilated cardiomyopathy

International Nuclear Information System (INIS)

O'Connell, J.B.; Fowles, R.E.; Robinson, J.A.; Subramanian, R.; Henkin, R.E.; Gunnar, R.M.

1984-01-01

The use of endomyocardial biopsy and gallium-67 scans in patients with dilated cardiomyopathy (DCM) has demonstrated the presence of myocardial inflammation in a subset of patients. A family with DCM was studied with endomyocardial biopsy and gallium-67 scanning; both identified the presence of myocarditis in the proband. Evaluation of histologic sections from deceased family members revealed myocarditis as the principal pathologic finding. This patient identified during life demonstrated a defect in suppressor lymphocytic function and improved with immunosuppressive therapy. A second family with DCM was discovered when postmortem examination of the proband and his father's heart showed myocarditis. A living sibling was identified with asymptomatic myocardial dysfunction. Longitudinal follow-up of surviving members of both families are in progress. This study indicates that thorough diagnostic evaluation of all patients with familial DCM should be pursued to identify subgroups with potentially treatable inflammation

Changing Work and Work-Family Conflict: Evidence from the Work, Family, and Health Network*

OpenAIRE

Kelly, Erin L.; Moen, Phyllis; Oakes, J. Michael; Fan, Wen; Okechukwu, Cassandra; Davis, Kelly D.; Hammer, Leslie; Kossek, Ellen; King, Rosalind Berkowitz; Hanson, Ginger; Mierzwa, Frank; Casper, Lynne

2014-01-01

Schedule control and supervisor support for family and personal life are work resources that may help employees manage the work-family interface. However, existing data and designs have made it difficult to conclusively identify the effects of these work resources. This analysis utilizes a group-randomized trial in which some units in an information technology workplace were randomly assigned to participate in an initiative, called STAR, that targeted work practices, interactions, and expecta...

"Female-Headed Families: Why Are They So Poor?"

OpenAIRE

Joan R. Rodgers

1991-01-01

Over the last few decades in the United States, the poverty rate for female-headed families (with no husband present) has been about three times the poverty rate for male-headed families (with no wife present) and about six times the poverty rate for married- couple families. This paper addresses the question of why, in general, female-headed families are so much poorer than other families. A decomposition of poverty rates and a set of probit models are used to identify the factors which dete...

Shared vision promotes family firm performance.

Science.gov (United States)

Neff, John E

2015-01-01

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

Shared Vision promotes family firm performance

Directory of Open Access Journals (Sweden)

John Edward Neff

2015-05-01

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.

The Future of Family Medicine: a collaborative project of the family medicine community.

Science.gov (United States)

Martin, James C; Avant, Robert F; Bowman, Marjorie A; Bucholtz, John R; Dickinson, John R; Evans, Kenneth L; Green, Larry A; Henley, Douglas E; Jones, Warren A; Matheny, Samuel C; Nevin, Janice E; Panther, Sandra L; Puffer, James C; Roberts, Richard G; Rodgers, Denise V; Sherwood, Roger A; Stange, Kurt C; Weber, Cynthia W

2004-01-01

Recognizing fundamental flaws in the fragmented US health care systems and the potential of an integrative, generalist approach, the leadership of 7 national family medicine organizations initiated the Future of Family Medicine (FFM) project in 2002. The goal of the project was to develop a strategy to transform and renew the discipline of family medicine to meet the needs of patients in a changing health care environment. A national research study was conducted by independent research firms. Interviews and focus groups identified key issues for diverse constituencies, including patients, payers, residents, students, family physicians, and other clinicians. Subsequently, interviews were conducted with nationally representative samples of 9 key constituencies. Based in part on these data, 5 task forces addressed key issues to meet the project goal. A Project Leadership Committee synthesized the task force reports into the report presented here. The project identified core values, a New Model of practice, and a process for development, research, education, partnership, and change with great potential to transform the ability of family medicine to improve the health and health care of the nation. The proposed New Model of practice has the following characteristics: a patient-centered team approach; elimination of barriers to access; advanced information systems, including an electronic health record; redesigned, more functional offices; a focus on quality and outcomes; and enhanced practice finance. A unified communications strategy will be developed to promote the New Model of family medicine to multiple audiences. The study concluded that the discipline needs to oversee the training of family physicians who are committed to excellence, steeped in the core values of the discipline, competent to provide family medicine's basket of services within the New Model, and capable of adapting to varying patient needs and changing care technologies. Family medicine education

Policy implications for familial searching

OpenAIRE

Kim, Joyce; Mammo, Danny; Siegel, Marni B; Katsanis, Sara H

2011-01-01

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...

The family health, functioning, social support and child maltreatment risk of families expecting a baby.

Science.gov (United States)

Lepistö, Sari; Ellonen, Noora; Helminen, Mika; Paavilainen, Eija

2017-08-01

To describe the family health, functioning, social support and child maltreatment risk and associations between them in families expecting a baby. Finland was one of the first countries in banning corporal punishment against children over 30 years ago. Despite of this, studies have shown that parents physically abuse their children. In addition, professionals struggle in intervention of this phenomenon. Abusive parents should be recognised and helped before actual violent behaviour. A follow-up case-control study, with a supportive intervention in the case group (families with a heightened risk) in maternity and child welfare clinics. The baseline results of families are described here. Child maltreatment risk in families expecting a baby was measured by Child Abuse Potential Inventory. The health and functioning was measured by Family Health, Functioning and Social Support Scale. Data included 380 families. A total of 78 families had increased risk for child maltreatment. Heightened risk was associated with partners' age, mothers' education, partners' father's mental health problems, mothers' worry about partners' drinking and mothers' difficulties in talking about the family's problems. Risk was associated with family functioning and health. Families with risk received a less support from maternity clinics. Families with child maltreatment risk and related factors were found. This knowledge can be applied for supporting families both during pregnancy and after the baby is born. Professionals working with families in maternity clinics need tools to recognise families with risk and aid a discussion with them about the family life situation. The Child Abuse Potential, as a part of evaluating the family life situation, seems to prove a useful tool in identifying families at risk. The results offer a valid and useful tool for recognising families with risk and provide knowledge about high-risk family situations. © 2016 John Wiley & Sons Ltd.

Fragile X Syndrome in a Colombian Family

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Saldarriaga Gil, Wilmar

2018-01-01

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.

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

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Yukinori Okada

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.

Asteroid Family Associations of Main-Belt Comets

Science.gov (United States)

Hsieh, Henry H.; Novakovic, Bojan; Kim, Yoonyoung; Brasser, Ramon

2016-10-01

We present a population-level analysis of the asteroid family associations of known main-belt comets or main-belt comet candidates (which, to date, have largely just been analyzed on individual bases as they have been discovered). In addition to family associations that have already been reported in the literature, we have identified dynamical relationships between 324P/La Sagra and the Alauda family, P/2015 X6 (PANSTARRS) and the Aeolia family, and P/2016 G1 (PANSTARRS) and the Adeona family. We will discuss the overall implications of these family associations, particularly as they pertain to the hypothesis that members of primitive asteroid family members may be more susceptible to producing observable sublimation-driven dust emission activity, and thus becoming main-belt comets. We will also discuss the significance of other dynamical and physical properties of a family or sub-family as they relate to the likelihood of that family containing one or more currently active main-belt comets.

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases.

LENUS (Irish Health Repository)

Byrne, Susan

2012-04-01

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.

Parental employment and work-family stress: Associations with family food environments

Science.gov (United States)

Bauer, Katherine W.; Hearst, Mary O.; Escoto, Kamisha; Berge, Jerica M.; Neumark-Sztainer, Dianne

2013-01-01

families, identifying policy and programmatic strategies to reduce parents' work-life stress may have positive implications for the family food environment and for the eating patterns and related health outcomes of children and parents. PMID:22591825

Parental employment and work-family stress: associations with family food environments.

Science.gov (United States)

Bauer, Katherine W; Hearst, Mary O; Escoto, Kamisha; Berge, Jerica M; Neumark-Sztainer, Dianne

2012-08-01

families, identifying policy and programmatic strategies to reduce parents' work-life stress may have positive implications for the family food environment and for the eating patterns and related health outcomes of children and parents. Copyright © 2012 Elsevier Ltd. All rights reserved.

Identifying risk profiles for childhood obesity using recursive partitioning based on individual, familial, and neighborhood environment factors.

Science.gov (United States)

Van Hulst, Andraea; Roy-Gagnon, Marie-Hélène; Gauvin, Lise; Kestens, Yan; Henderson, Mélanie; Barnett, Tracie A

2015-02-15

Few studies consider how risk factors within multiple levels of influence operate synergistically to determine childhood obesity. We used recursive partitioning analysis to identify unique combinations of individual, familial, and neighborhood factors that best predict obesity in children, and tested whether these predict 2-year changes in body mass index (BMI). Data were collected in 2005-2008 and in 2008-2011 for 512 Quebec youth (8-10 years at baseline) with a history of parental obesity (QUALITY study). CDC age- and sex-specific BMI percentiles were computed and children were considered obese if their BMI was ≥95th percentile. Individual (physical activity and sugar-sweetened beverage intake), familial (household socioeconomic status and measures of parental obesity including both BMI and waist circumference), and neighborhood (disadvantage, prestige, and presence of parks, convenience stores, and fast food restaurants) factors were examined. Recursive partitioning, a method that generates a classification tree predicting obesity based on combined exposure to a series of variables, was used. Associations between resulting varying risk group membership and BMI percentile at baseline and 2-year follow up were examined using linear regression. Recursive partitioning yielded 7 subgroups with a prevalence of obesity equal to 8%, 11%, 26%, 28%, 41%, 60%, and 63%, respectively. The 2 highest risk subgroups comprised i) children not meeting physical activity guidelines, with at least one BMI-defined obese parent and 2 abdominally obese parents, living in disadvantaged neighborhoods without parks and, ii) children with these characteristics, except with access to ≥1 park and with access to ≥1 convenience store. Group membership was strongly associated with BMI at baseline, but did not systematically predict change in BMI. Findings support the notion that obesity is predicted by multiple factors in different settings and provide some indications of potentially

Social Capital and Determinants of Immigrant Family Educational Involvement

Science.gov (United States)

Tang, Sandra

2015-01-01

Family educational involvement has been identified as a particularly beneficial practice for the achievement and behavioral outcomes of all students, including ethnic-minority students from families who have low levels of income, education, and English language proficiency. Despite the associated benefits, however, not all families are involved in…

Most important needs of family members of critical patients in light of the critical care family needs inventory.

Science.gov (United States)

Padilla Fortunatti, Cristóbal Felipe

2014-01-01

This work sought to identify the most important needs for family members of adult critical patients as described in the literature pursuant to the dimensions established in the "Critical Care Family Needs Inventory" (CCFNI) by Molter and Leske. A literature review was carried out by using the CCFNI instrument. The databases used were: Pubmed, CINAHL, Proquest Nursing & Allied Health Source, Proquest Psychology Journals, LILACS, Science Direct, Ovid SP, PsyicINFO, and SciELO. The following limitations for the search were identified: adult patients, articles in English and Spanish, with abstract and complete text available and which had been published from 2003 to June 2013; 15 articles were included. The family's hope on desired results and sincere communication with the healthcare staff turned out to be the most relevant needs, while the least important were related to comfort and having support structures or systems. Most of the studies were conducted in Asia and North America revealing differences in the order of importance assigned to each necessity. Certain sociodemographic and cultural characteristics impact upon how family members rank their needs; this also occurs with the nature of the most important needs for the family and the factors determining their prioritization. The articles included in this review mention the frequent interaction with the family and their holistic view of the person beyond the illness, determine that nurses are the most appropriate professionals to know and satisfy the family needs of critical patients.

Most Important Needs of Family Members of Critical Patients in Light of the Critical Care Family Needs Inventory

Directory of Open Access Journals (Sweden)

Cristóbal Felipe Padilla Fortunatti

2014-07-01

Full Text Available Objective. This work sought to identify the most important needs for family members of adult critical patients as described in the literature pursuant to the dimensions established in the "Critical Care Family Needs Inventory" (CCFNI by Molter and Leske. Methodology. A literature review was carried out by using the CCFNI instrument. The databases used were: Pubmed, CINAHL, Proquest Nursing & Allied Health Source, Proquest Psychology Journals, LILACS, Science Direct, Ovid SP, PsyicINFO, and SciELO. The following limitations for the search were identified: adult patients, articles in English and Spanish, with abstract and complete text available and which had been published from 2003 to June 2013; 15 articles were included. Results. The family's hope on desired results and sincere communication with the healthcare staff turned out to be the most relevant needs, while the least important were related to comfort and having support structures or systems. Most of the studies were conducted in Asia and North America revealing differences in the order of importance assigned to each necessity. Certain sociodemographic and cultural characteristics impact upon how family members rank their needs; this also occurs with the nature of the most important needs for the family and the factors determining their prioritization. Conclusion. The articles included in this review mention the frequent interaction with the family and their holistic view of the person beyond the illness, determine that nurses are the most appropriate professionals to know and satisfy the family needs of critical patients.

A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family

DEFF Research Database (Denmark)

Hansen, Martin A; Nielsen, John E; Retelska, Dorota

2008-01-01

, sequences corresponding to the shared promoter region of the CYPT family were identified at 39 loci. Most loci were located immediately upstream of genes belonging to the VCX/Y, SPANX, or CSAG gene families. Sequence comparison of the loci revealed a conserved CYPT promoter-like (CPL) element featuring TATA...... cell types. The genomic regions harboring the gene families were rich in direct and inverted segmental duplications (SD), which may facilitate gene conversion and rapid evolution. The conserved CPL and the common expression profiles suggest that the human VCX/Y, SPANX, and CSAG2 gene families together......Many testis-specific genes from the sex chromosomes are subject to rapid evolution, which can make it difficult to identify murine genes in the human genome. The murine CYPT gene family includes 15 members, but orthologs were undetectable in the human genome. However, using refined homology search...

Symbolic Game Semantics for Model Checking Program Families

OpenAIRE

Dimovski, Aleksandar

2016-01-01

Program families can produce a (potentially huge) number of related programs from a common code base. Many such programs are safety critical. However, most verification techniques are designed to work on the level of single programs, and thus are too costly to apply to the entire program family. In this paper, we propose an efficient game semantics based approach for verifying open program families, i.e. program families with free (undefined) identifiers. We use symbolic representation of alg...

A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

DEFF Research Database (Denmark)

Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael

2014-01-01

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...

HEREDITARY INTRAVENTRICULAR CONDUCTION DISORDERS IN THE FAMILY FROM KRASNOYARSK

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A. A. Chernova

2011-01-01

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.

Identification of families among highly inclined asteroids

Science.gov (United States)

Gil-Hutton, R.

2006-07-01

A dataset of 3652 high-inclination numbered asteroids was analyzed to search for dynamical families. A fully automated multivariate data analysis technique was applied to identify the groupings. Thirteen dynamical families and twenty-two clumps were found. When taxonomic information is available, the families show cosmochemical consistency and support an interpretation based on a common origin from a single parent body. Four families and three clumps found in this work show a size distribution which is compatible with a formation due to a cratering event on the largest member of the family, and also three families have B- or related taxonomic types members, which represents a 14% of the B-types classified by Bus and Binzel [2002. Icarus 158, 146-177].

Story Themes from the Family Distance Doll Placement Technique: A Method for Assessing Patterns of Closeness and Distance in Families of Disturbed and Normal Boys.

Science.gov (United States)

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…

Indsigter og udfordringer i danske Lynch-syndrom-familier

DEFF Research Database (Denmark)

Therkildsen, Christina; Timshel, Susanne; Nilbert, Mef

2008-01-01

identified 88 unique mutations in 164 Danish families delineated as Lynch syndrome families. Predictive genetic diagnostics enables the identification of high risk individuals, who are offered participation in surveillance programmes that effectively reduce morbidity and mortality in colorectal cancer....

Genetic anticipation in Swedish Lynch syndrome families

DEFF Research Database (Denmark)

von Salomé, Jenny; Boonstra, Philip S; Karimi, Masoud

2017-01-01

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have......-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2...... families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age...

Family Structure and Family Processes in Mexican American Families

OpenAIRE

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

2011-01-01

Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

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Edenir Inêz Palmero

2016-01-01

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.

Birth order, family size and educational attainment

NARCIS (Netherlands)

de Haan, M.

2010-01-01

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

Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.

Science.gov (United States)

Setia, Nitika; Saxena, Renu; Sawhney, J P S; Verma, Ishwar C

2018-05-01

Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by very high low density lipoprotein (LDL) cholesterol since birth, resulting in premature atherosclerosis and coronary artery disease (CAD). Cascade screening of children and family members of proven FH individuals can identify more subjects who have high LDL cholesterol or the family mutation and appropriate intervention can reduce their risk of atherosclerosis and prevent its complications. Cascade screening by molecular testing, was carried out in 133 family members, comprising 24 children, of 31 probands with FH having a pathogenic mutation in LDLR/ApoB gene. Lipid profiles were obtained in 44 family members including 11 children. Of 133 family members tested, 88 (66.1%) were identified to carry the family mutation. Twelve of these were children below 18 y of age and 76 were adults. CAD was present in 15 (11.2%) family members and 63(47.4%) family members, including nine children, were already on Lipid Lowering Therapy. Cascade screening led to identification of 88 new cases, with a pathogenic mutation, who were at a very high risk of developing premature CAD. The authors identified 12 children with family specific mutation, out of which 9 were initiated on low dose statin therapy. Four homozygous children were treated with high dose statins because of substantially increased risk of CAD. Cascade screening, therefore, proved to be a successful initiative towards primary prevention of CAD in India.

The Returned Prisoner of War: Factors in Family Reintegration

Science.gov (United States)

McCubin, Hamilton I.; And Others

1975-01-01

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)…

Resilience in Families in Which a Child is Bullied

Science.gov (United States)

Greeff, Abraham Petrus; Van den Berg, Estelle

2013-01-01

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…

American families: trends and correlates.

Science.gov (United States)

Davanzo, J; Rahman, M O

1993-01-01

Discussion focused on the nature of the roles of the family, a review of the major demographic changes (marriage, cohabitation, nonfamily households, remarriage, fertility, teenage pregnancy, and female employment) affecting the American family in the past decades, and the nature of the impact on women, men, and children. There were four major trends identified: 1) increased proportions of children living in single-parent families due to high rates of divorce and increased childbearing outside of marriage; 2) increased proportions of adults in nontraditional living arrangements; 3) increased female labor force participation during all stages of the life cycle; and 4) decreased proportions of children and increased proportions of older people out of total population due to declining mortality and fertility rates. Family formation arises out of childbearing and childrearing roles, the need for companionship and emotional support, and the opportunities for specialization and trade, and the economies of scale. The costs of family living may include the potential for disagreement, conflict, loss of privacy, and time and money. There were a number of reasons identified for not maintaining traditional families consisting of a married couple with children. The trends were for later age at marriage: 24.4 years in 1992 for women, increased cohabitation (almost 50% cohabiting prior to first marriage in 1985-86), decreased number of married couple households, and increased number of adults in non-family households. The divorce rate has risen over the past 100 years with peaks in the 1970s; the reasons were identified as increased baby boomers and new marriages, increased labor participation of women, and changes in gender roles. The stabilization and slight decline in rates may be due to a natural leveling, the likelihood of greater stability within new marriages, and the aging of the baby boomers. An anticipated increase in divorce rates in the future was also justified

Changing Work and Work-Family Conflict: Evidence from the Work, Family, and Health Network*

Science.gov (United States)

Kelly, Erin L; Moen, Phyllis; Oakes, J Michael; Fan, Wen; Okechukwu, Cassandra; Davis, Kelly D; Hammer, Leslie; Kossek, Ellen; King, Rosalind Berkowitz; Hanson, Ginger; Mierzwa, Frank; Casper, Lynne

2014-06-01

Schedule control and supervisor support for family and personal life are work resources that may help employees manage the work-family interface. However, existing data and designs have made it difficult to conclusively identify the effects of these work resources. This analysis utilizes a group-randomized trial in which some units in an information technology workplace were randomly assigned to participate in an initiative, called STAR, that targeted work practices, interactions, and expectations by (a) training supervisors on the value of demonstrating support for employees' personal lives and (b) prompting employees to reconsider when and where they work. We find statistically significant, though modest, improvements in employees' work-family conflict and family time adequacy and larger changes in schedule control and supervisor support for family and personal life. We find no evidence that this intervention increased work hours or perceived job demands, as might have happened with increased permeability of work across time and space. Subgroup analyses suggest the intervention brings greater benefits to employees more vulnerable to work-family conflict. This study advances our understanding of the impact of social structures on individual lives by investigating deliberate organizational changes and their effects on work resources and the work-family interface with a rigorous design.

A locus identified on chromosome18p11.31 is associated with hippocampal abnormalities in a family with mesial temporal lobe epilepsy

Directory of Open Access Journals (Sweden)

Claudia Vianna Maurer-Morelli

2012-08-01

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.

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

Science.gov (United States)

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

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

Death with dignity from the perspective of the surviving family: a survey study among family caregivers of deceased older adults.

Science.gov (United States)

van Gennip, Isis E; Pasman, H Roeline W; Kaspers, Pam J; Oosterveld-Vlug, Mariska G; Willems, Dick L; Deeg, Dorly J H; Onwuteaka-Philipsen, Bregje D

2013-07-01

Death with dignity has been identified as important both to patients and their surviving family. While research results have been published on what patients themselves believe may affect the dignity of their deaths, little is known about what family caregivers consider to be a dignified death. (1) To assess the prevalence of death with dignity in older adults from the perspective of family caregivers, (2) to determine factors that diminish dignity during the dying phase according to family caregivers, and (3) to identify physical, psychosocial, and care factors associated with death with dignity. A survey study with a self-administered questionnaire. Family caregivers of 163 deceased older (>55 years of age) adults ("patients") who had participated in the Longitudinal Aging Study Amsterdam. Of the family caregivers, 69% reported that their relative had died with dignity. Factors associated with a dignified death in a multivariate regression model were patients feeling peaceful and ready to die, absence of anxiety and depressive mood, presence of fatigue, and a clear explanation by the physician of treatment options during the final months of life. The physical and psychosocial condition of the patient in combination with care factors contributed to death with dignity from the perspective of the family caregiver. The patient's state of mind during the last phase of life and clear communication on the part of the physician both seem to be of particular importance.

Family and Cultural Influences on Low-Income Latino Children's Adjustment

Science.gov (United States)

Santiago, Catherine DeCarlo; Wadsworth, Martha E.

2011-01-01

This study examined family and cultural influences on adjustment among 90 low-income Latino middle school children (46% girls; average age = 11.38, SD = 0.66) and their primary caregivers (93% female; average age = 36.12, SD = 6.13). All participants identified as Hispanic/Latino, with 75% of families identifying as Mexican-origin Latino, and 77%…

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

Science.gov (United States)

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

2018-04-01

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

Issues in Developing the IFSP: A Framework for Establishing Family Outcomes.

Science.gov (United States)

Beckman, Paula J.; Bristol, Marie M.

1991-01-01

This paper identifies four key issues in the implementation of Individualized Family Service Plans (IFSPs) to provide services to young handicapped children as required by Public Law 99-457. These include sensitivity to cultural diversity, family assessment, intrusiveness, and establishing family outcomes. A typology of family outcomes which…

Death with dignity from the perspective of the surviving family: A survey study among family caregivers of deceased older adults

NARCIS (Netherlands)

van Gennip, I.E.; Pasman, H.R.W.; Kaspers, P.J.; Oosterveld-Vlug, M.G.; Willems, D.L.; Deeg, D.J.H.; Onwuteaka-Philipsen, B.D.

2013-01-01

Background: Death with dignity has been identified as important both to patients and their surviving family. While research results have been published on what patients themselves believe may affect the dignity of their deaths, little is known about what family caregivers consider to be a dignified

Death with dignity from the perspective of the surviving family: a survey study among family caregivers of deceased older adults

NARCIS (Netherlands)

van Gennip, Isis E.; Pasman, H. Roeline W.; Kaspers, Pam J.; Oosterveld-Vlug, Mariska G.; Willems, Dick L.; Deeg, Dorly J. H.; Onwuteaka-Philipsen, Bregje D.

2013-01-01

Death with dignity has been identified as important both to patients and their surviving family. While research results have been published on what patients themselves believe may affect the dignity of their deaths, little is known about what family caregivers consider to be a dignified death. (1)

Family adaptation to cerebral palsy in adolescents

DEFF Research Database (Denmark)

Guyard, Audrey; Michelsen, Susan I; Arnaud, Catherine

2017-01-01

modelled with structural equations. RESULTS: 31.8% of parents living with an adolescent with CP showed clinically significant high stress requiring professional assistance. The main stressors were the level of motor impairment and behavioural disorders in adolescent. A good family functioning was the best......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...... of teenagers [13-17 years] with cerebral palsy (CP) from 4 European disability registers were included and visited at home. Face to face interviews were performed in order to measure parental distress, perceived impact in various dimensions of family life, family resources and stressors. Relationships were...

Intra-family role expectations and reluctance to change identified as key barriers to expanding vegetable consumption patterns during interactive family-based program for Appalachian low-income food preparers.

Science.gov (United States)

Brown, J Lynne; Wenrich, Tionni R

2012-08-01

Few Americans eat sufficient vegetables, especially the protective deep orange and dark green vegetables. To address this, a community-based wellness program to broaden vegetables served at evening meals targeting Appalachian food preparers and their families was tested in a randomized, controlled intervention. Food preparers (n=50) were predominately married (88%), white (98%), and female (94%), with several children living at home. Experimental food preparers (n=25) attended the program sessions and controls (n=25) were mailed relevant handouts and recipes. At program sessions, participants received nutrition information, hands-on cooking instruction, and prepared recipes to take home for family evaluation. As qualitative assessment, 10 couples from each treatment group (n=20 couples) were randomly selected for baseline and immediate post-intervention interviews to explore impact on the food preparer's family. These in-depth interviews with the food preparer and their adult partner were tape-recorded and transcribed verbatim. Two researchers conducted thematic analysis using constant comparison. Family flexibility about food choices was assessed using roles, rules, and power concepts from Family Systems Theory. Interviews at baseline revealed dinner vegetable variety was very limited because food preparers served only what everyone liked (a role expectation) and deferred to male partner and children's narrow vegetable preferences (power). Control couples reported no change in vegetable dinner variety post-intervention. Most experimental couples reported in-home tasting and evaluation was worthwhile and somewhat broadened vegetables served at dinners. But the role expectation of serving only what everyone liked and the practice of honoring powerful family members' vegetable preferences remained major barriers to change. Copyright © 2012 Academy of Nutrition and Dietetics. Published by Elsevier Inc. All rights reserved.

Family centred care before and during life-sustaining treatment withdrawal in intensive care: A survey of information provided to families by Australasian critical care nurses.

Science.gov (United States)

Ranse, Kristen; Bloomer, Melissa; Coombs, Maureen; Endacott, Ruth

2016-11-01

A core component of family-centred nursing care during the provision of end-of-life care in intensive care settings is information sharing with families. Yet little is known about information provided in these circumstances. To identify information most frequently given by critical care nurses to families in preparation for and during withdrawal of life-sustaining treatment. An online cross-sectional survey. During May 2015, critical care nurses in Australia and New Zealand were invited to complete the Preparing Families for Treatment Withdrawal questionnaire. Data analysis included descriptive statistics to identify areas of information most and least frequently shared with families. Cross tabulations with demographic data were used to explore any associations in the data. From the responses of 159 critical care nurses, information related to the emotional care and support of the family was most frequently provided to families in preparation for and during withdrawal of life-sustaining treatment. Variation was noted in the frequency of provision of information across body systems and their associated physical changes during the dying process. Significant associations (p<0.05) were identified between the variables gender, nursing experience and critical care experiences and some of the information items most and least frequently provided. The provision of information during end-of-life care reflects a family-centred care approach by critical care nurses with information pertaining to emotional care and support of the family paramount. The findings of this study provide a useful framework for the development of interventions to improve practice and support nurses in communicating with families at this time. Copyright © 2016 Australian College of Critical Care Nurses Ltd. Published by Elsevier Ltd. All rights reserved.

Identifying Mother-Child Interaction Styles Using a Person-Centered Approach.

Science.gov (United States)

Nelson, Jackie A; O'Brien, Marion; Grimm, Kevin J; Leerkes, Esther M

2014-05-01

Parent-child conflict in the context of a supportive relationship has been discussed as a potentially constructive interaction pattern; the current study is the first to test this using a holistic analytic approach. Interaction styles, defined as mother-child conflict in the context of maternal sensitivity, were identified and described with demographic and stress-related characteristics of families. Longitudinal associations were tested between interaction styles and children's later social competence. Participants included 814 partnered mothers with a first-grade child. Latent profile analysis identified agreeable , dynamic , and disconnected interaction styles. Mothers' intimacy with a partner, depressive symptoms, and authoritarian childrearing beliefs, along with children's later conflict with a best friend and externalizing problems, were associated with group membership. Notably, the dynamic style, characterized by high sensitivity and high conflict, included families who experienced psychological and relational stressors. Findings are discussed with regard to how family stressors shape parent-child interaction patterns.

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

Directory of Open Access Journals (Sweden)

Chen Shen

2017-09-01

family communication and family well-being. Mediation analysis showed that perceived communication adequacy mediated the effects of the intervention on family harmony [β = 0.10, 95% confidence interval (CI 0.03, 0.18], happiness (β = 0.12, 95% CI 0.04, 0.20, and health (β = 0.10, 95% CI 0.02, 0.17, adjusting for age and education.ConclusionThis community intervention based on the social ecological model improved family well-being through improving family communication, which could be an effective target to promote family well-being in other communities.Trial registrationThis study was registered under ClinicalTrials.gov, identifier NCT02851667. URL: https://clinicaltrials.gov/ct2/show/NCT02851667?term=02851667&rank=1.

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

Science.gov (United States)

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

2017-01-01

family well-being. Mediation analysis showed that perceived communication adequacy mediated the effects of the intervention on family harmony [β = 0.10, 95% confidence interval (CI) 0.03, 0.18], happiness (β = 0.12, 95% CI 0.04, 0.20), and health (β = 0.10, 95% CI 0.02, 0.17), adjusting for age and education. This community intervention based on the social ecological model improved family well-being through improving family communication, which could be an effective target to promote family well-being in other communities. This study was registered under ClinicalTrials.gov, identifier NCT02851667. URL: https://clinicaltrials.gov/ct2/show/NCT02851667?term=02851667&rank=1.

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Science.gov (United States)

Yokoyama, Satoru; Woods, Susan L.; Boyle, Glen M.; Aoude, Lauren G.; MacGregor, Stuart; Zismann, Victoria; Gartside, Michael; Cust, Anne E.; Haq, Rizwan; Harland, Mark; Taylor, John C.; Duffy, David L.; Holohan, Kelly; Dutton-Regester, Ken; Palmer, Jane M.; Bonazzi, Vanessa; Stark, Mitchell S.; Symmons, Judith; Law, Matthew H.; Schmidt, Christopher; Lanagan, Cathy; O’Connor, Linda; Holland, Elizabeth A.; Schmid, Helen; Maskiell, Judith A.; Jetann, Jodie; Ferguson, Megan; Jenkins, Mark A.; Kefford, Richard F.; Giles, Graham G.; Armstrong, Bruce K.; Aitken, Joanne F.; Hopper, John L.; Whiteman, David C.; Pharoah, Paul D.; Easton, Douglas F.; Dunning, Alison M.; Newton-Bishop, Julia A.; Montgomery, Grant W.; Martin, Nicholas G.; Mann, Graham J.; Bishop, D. Timothy; Tsao, Hensin; Trent, Jeffrey M.; Fisher, David E.; Hayward, Nicholas K.; Brown, Kevin M.

2012-01-01

So far, two familial melanoma genes have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases1, and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds2. To identify other familial melanoma genes, here we conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). Although the variant co-segregated with melanoma in some but not all cases in the family, linkage analysis of 31 families subsequently identified to carry the variant generated a log odds ratio (lod) score of 2.7 under a dominant model, indicating E318K as a possible intermediate risk variant. Consistent with this, the E318K variant was significantly associated with melanoma in a large Australian case–control sample. Likewise, it was similarly associated in an independent case–control sample from the United Kingdom. In the Australian sample, the variant allele was significantly over-represented in cases with a family history of melanoma, multiple primary melanomas, or both. The variant allele was also associated with increased naevus count and non-blue eye colour. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. These data indicate that MITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility. PMID:22080950

Italian Family Business Cultures Involved in the Generational Change

Directory of Open Access Journals (Sweden)

Ruggero Ruggieri

2014-02-01

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.

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

Science.gov (United States)

Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Armstrong, Georgina N.; Shete, Sanjay; Lau, Ching C.; Bainbridge, Matthew N.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Lai, Rose; Il'yasova, Dora; Houlston, Richard S.; Schildkraut, Joellen; Bernstein, Jonine L.; Olson, Sara H.; Jenkins, Robert B.; Lachance, Daniel H.; Wrensch, Margaret; Davis, Faith G.; Merrell, Ryan; Johansen, Christoffer; Sadetzki, Siegal; Bondy, Melissa L.; Melin, Beatrice S.; Adatto, Phyllis; Morice, Fabian; Payen, Sam; McQuinn, Lacey; McGaha, Rebecca; Guerra, Sandra; Paith, Leslie; Roth, Katherine; Zeng, Dong; Zhang, Hui; Yung, Alfred; Aldape, Kenneth; Gilbert, Mark; Weinberger, Jeffrey; Colman, Howard; Conrad, Charles; de Groot, John; Forman, Arthur; Groves, Morris; Levin, Victor; Loghin, Monica; Puduvalli, Vinay; Sawaya, Raymond; Heimberger, Amy; Lang, Frederick; Levine, Nicholas; Tolentino, Lori; Saunders, Kate; Thach, Thu-Trang; Iacono, Donna Dello; Sloan, Andrew; Gerson, Stanton; Selman, Warren; Bambakidis, Nicholas; Hart, David; Miller, Jonathan; Hoffer, Alan; Cohen, Mark; Rogers, Lisa; Nock, Charles J; Wolinsky, Yingli; Devine, Karen; Fulop, Jordonna; Barrett, Wendi; Shimmel, Kristen; Ostrom, Quinn; Barnett, Gene; Rosenfeld, Steven; Vogelbaum, Michael; Weil, Robert; Ahluwalia, Manmeet; Peereboom, David; Staugaitis, Susan; Schilero, Cathy; Brewer, Cathy; Smolenski, Kathy; McGraw, Mary; Naska, Theresa; Rosenfeld, Steven; Ram, Zvi; Blumenthal, Deborah T.; Bokstein, Felix; Umansky, Felix; Zaaroor, Menashe; Cohen, Avi; Tzuk-Shina, Tzeela; Voldby, Bo; Laursen, René; Andersen, Claus; Brennum, Jannick; Henriksen, Matilde Bille; Marzouk, Maya; Davis, Mary Elizabeth; Boland, Eamon; Smith, Marcel; Eze, Ogechukwu; Way, Mahalia; Lada, Pat; Miedzianowski, Nancy; Frechette, Michelle; Paleologos, Nina; Byström, Gudrun; Svedberg, Eva; Huggert, Sara; Kimdal, Mikael; Sandström, Monica; Brännström, Nikolina; Hayat, Amina; Tihan, Tarik; Zheng, Shichun; Berger, Mitchel; Butowski, Nicholas; Chang, Susan; Clarke, Jennifer; Prados, Michael; Rice, Terri; Sison, Jeannette; Kivett, Valerie; Duo, Xiaoqin; Hansen, Helen; Hsuang, George; Lamela, Rosito; Ramos, Christian; Patoka, Joe; Wagenman, Katherine; Zhou, Mi; Klein, Adam; McGee, Nora; Pfefferle, Jon; Wilson, Callie; Morris, Pagan; Hughes, Mary; Britt-Williams, Marlin; Foft, Jessica; Madsen, Julia; Polony, Csaba; McCarthy, Bridget; Zahora, Candice; Villano, John; Engelhard, Herbert; Borg, Ake; Chanock, Stephen K; Collins, Peter; Elston, Robert; Kleihues, Paul; Kruchko, Carol; Petersen, Gloria; Plon, Sharon; Thompson, Patricia; Johansen, C.; Sadetzki, S.; Melin, B.; Bondy, Melissa L.; Lau, Ching C.; Scheurer, Michael E.; Armstrong, Georgina N.; Liu, Yanhong; Shete, Sanjay; Yu, Robert K.; Aldape, Kenneth D.; Gilbert, Mark R.; Weinberg, Jeffrey; Houlston, Richard S.; Hosking, Fay J.; Robertson, Lindsay; Papaemmanuil, Elli; Claus, Elizabeth B.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Sloan, Andrew E.; Barnett, Gene; Devine, Karen; Wolinsky, Yingli; Lai, Rose; McKean-Cowdin, Roberta; Il'yasova, Dora; Schildkraut, Joellen; Sadetzki, Siegal; Yechezkel, Galit Hirsh; Bruchim, Revital Bar-Sade; Aslanov, Lili; Sadetzki, Siegal; Johansen, Christoffer; Kosteljanetz, Michael; Broholm, Helle; Bernstein, Jonine L.; Olson, Sara H.; Schubert, Erica; DeAngelis, Lisa; Jenkins, Robert B.; Yang, Ping; Rynearson, Amanda; Andersson, Ulrika; Wibom, Carl; Henriksson, Roger; Melin, Beatrice S.; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Merrell, Ryan; Lada, Patricia; Wrensch, Margaret; Wiencke, John; Wiemels, Joe; McCoy, Lucie; McCarthy, Bridget J.; Davis, Faith G.

2014-01-01

Background Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers. Methods Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma. Results We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. Conclusions Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes. PMID:24723567

Adoptive and Birth Family Adjustment to Rearing Retarded Children.

Science.gov (United States)

Glidden, Laraine Masters; Bush, Beverly A.

The study identified 81 families who adopted children with mental retardation or at risk for mental retardation, and compared them with 61 matched families with similar birth children. For birth families, the initial diagnosis was a time of crisis, with high depression scores, while scores at follow-up (an average of 5.3 years later) indicated no…

The Fourth Revolution: Family Systems in the Schools.

Science.gov (United States)

Woody, Robert Henley; Woody, Jennifer K.

1994-01-01

Identifies historical roots, public policy evolution, and legislative mandates relevant to schools meeting students' mental health needs and creating a school-family effort. To promote acceptance, the linkage between school systems and family systems theory is explained. Assessment and intervention strategies are described. (JBJ)

Establishing a Methodology to Examine the Effects of War-Zone PTSD on the Family: The Family Foundations Study

Science.gov (United States)

Vasterling, Jennifer J.; Taft, Casey T.; Proctor, Susan P.; MacDonald, Helen Z.; Lawrence, Amy; Kalill, Kathleen; Kaiser, Anica P.; Lee, Lewina O.; King, Daniel W.; King, Lynda A.; Fairbank, John A.

2015-01-01

Military deployment may adversely affect not only returning veterans, but their families, as well. As a result, researchers have increasingly focused on identifying risk and protective factors for successful family adaptation to war-zone deployment, re-integration of the returning veteran, and the longer-term psychosocial consequences of deployment experienced by some veterans and families. Posttraumatic stress disorder (PTSD) among returning veterans may pose particular challenges to military and military veteran families; however, questions remain regarding the impact of the course of veteran PTSD and other potential moderating factors on family adaptation to military deployment. The Family Foundations Study builds upon an established longitudinal cohort of Army soldiers (i.e., the Neurocognition Deployment Health Study) to help address remaining knowledge gaps. This report describes the conceptual framework and key gaps in knowledge that guided the study design, methodological challenges and special considerations in conducting military family research, and how these gaps, challenges, and special considerations are addressed by the study. PMID:26077194

African American therapists working with African American families: an exploration of the strengths perspective in treatment.

Science.gov (United States)

Bell-Tolliver, LaVerne; Burgess, Ruby; Brock, Linda J

2009-07-01

With the exception of Hill's (1971, 1999) work, historically much of the literature on African American families has focused more on pathology than strengths. This study used interviews with 30 African American psychotherapists, self-identified as employing a strengths perspective with African American families, to investigate which strengths they identified in the families and how they use those strengths in therapy. Themes emerging from data analysis confirmed the continued importance of the five strengths Hill noted. In addition, two new strengths were identified by the participants: a willingness of a greater number of families to seek therapy, and the importance of family structure. Strategies used in engaging the families in therapy and practice implications for family therapists are discussed.

Sleep-wake cycle phenotypes in young people with familial and non-familial mood disorders.

Science.gov (United States)

Scott, Jan; Naismith, Sharon; Grierson, Ashlee; Carpenter, Joanne; Hermens, Daniel; Scott, Elizabeth; Hickie, Ian

2016-12-01

Converging evidence identifies that the offspring of parents with bipolar disorder (BD), individuals at clinical high risk of BD, and young people with recent onset BD may differ from other clinical cases or healthy controls in terms of sleep-wake profiles. However, it is possible that these differences may reflect current mental state, subtype of mood disorder, or familial traits. This study aimed to determine objective and subjective sleep-wake profiles in individuals aged 15-25 years with a current major depressive episode, in relation to familial traits. Frequency matching was employed to ensure that each individual with a confirmed family history of BD (FH+) could be compared to four controls who did not have a familial mood disorder (FH-). Pre-selected objective actigraphy and subjective Pittsburgh Sleep Quality Index (PSQI) ratings were compared using one-way analysis of variance (ANOVA) and applying the Benjamini-Hochberg (BH) correction for false discoveries. The sample comprised 60 individuals with a mean age of 19 years. The FH+ (n=12) and FH- groups (n=48) differed on three key sleep parameters: mean sleep duration on week nights (P=.049), variability in waking after sleep onset (P=.038), and daily disturbances (PSQI dimension of sleep disturbance and daytime dysfunction; P=.01). The sleep profiles we identified in this study, especially the daily disturbances phenotype, provide support for research into endophenotypes for BD. Also, the findings may offer the opportunity for more tailored, personalized interventions that target specific components of the sleep-wake cycle in individuals with a family history of BD. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Family Resilience Resources in Coping With Child Sexual Abuse in South Africa.

Science.gov (United States)

Vermeulen, Theresa; Greeff, Abraham P

2015-01-01

The aim of this qualitative study was to identify resources of family resilience that help families cope with child sexual abuse. Data were collected from a purposeful sample of parents representing nine poor families living in the Western Cape Province, South Africa. The narratives of the participants were analyzed thematically. The results indicate that the families, despite adverse situations, utilized internal and external resilience resources. Internal resources were the parents' relationship with their children, their own emotional functioning and attitudes, the children's ability to cope with the abuse, boundaries in the family, insight into their children's emotional needs, and sibling relationships. External family resources were the support of extended family members, friends, and a local community-based nonprofit organization working with child sexual abuse and schools. The empowering role of the identified resources for family resilience should be enhanced in interventions, while future studies could further explore these aspects in families confronted with child sexual abuse.

Dynamical portrait of the Hoffmeister asteroid family

Science.gov (United States)

Novakovic, Bojan; Maurel, Clara; Tsirvoulis, Georgios; Knezevic, Zoran; Radovic, Viktor

2015-08-01

The (1726) Hoffmeister asteroid family is located in the middle of the Main Belt, between 2.75 and 2.82 AU. It draws our attention due to its unusual shape when projected to the semi-major axis vs. inclination plane. Actually, the distribution of family members as seen in this plane clearly suggests different dynamical evolution for the two parts of the family delimited in terms of semi-major axis.Therefore, we investigate here the dynamics of the family members aiming primarily to explain the observed unusual shape, but we also reconstruct the evolution of the whole family in time, and estimated its age.The Hoffmeister family is close to the fourth degree secular resonance z1=g-g6+s-s6, and in the neighborhood of the most massive asteroid (1) Ceres, each of these possibly being responsible for the strange shape of the family. To identify which ones, if any, among the different possible dynamical mechanisms are actually at work here, we performed a set of numerical integrations. We integrate the orbits of test particles over 300 Myr, as the age of the Hoffmeister family was previously roughly estimated to be 300 ± 200 Myr. Moreover, in order to identify and isolate the main perturber(s), we repeat four times the integrations using each time a different dynamical model, taking or not into account the Yarkovsky effect and dwarf planet Ceres as a perturbing body.Our results reveal the significant role of a so far overlooked dynamical aspect, namely a secular resonance between the dwarf planet Ceres and other asteroids. In particular, we show that the post-impact evolution of the Hoffmeister asteroid family is a direct consequence of the nodal secular resonance with Ceres.

Screening women for family violence in the maternal child healthcare setting.

Science.gov (United States)

Wyszynski, M E

2000-03-01

In the United States, a woman is battered in her home every 9 seconds, and up to 4,000 women are beaten to death every year, making family violence one of the most common crimes in the United States today. Family violence has been identified as a national health concern; however, long-standing societal belief, myths regarding family violence, and the lack of training for healthcare professionals have created barriers to identifying and caring for these women. There is no single profile of the victim or perpetrator of family violence. All women should be asked about family violence in a safe, nonthreatening manner at all healthcare visits, including when bringing children for pediatric visits. Family violence begins slowly and increases with time. Goals for caring for the battered woman include decreasing her isolation, increasing her safety, accurate documentation, and appropriate referrals.

Caring for family caregivers: An analysis of a family-centered intervention

Directory of Open Access Journals (Sweden)

Carme Ferré-Grau

2014-08-01

Full Text Available Objective To assess the effectiveness of Problem-Solving Therapy (PST on family caregivers through the use of scales to measure anxiety, depression and emotional distress; and to explore facilitating factors and obstacles for its use based on the narrative of nurses. Method A clinical trial and an exploratory focus group with the use of mixed analysis methodology. The study was conducted in a primary health care center in Tarragona, Spain, and the sample consisted of 122 family caregivers who were included in the home care service, and 10 nurses who participated in the intervention group. Family caregivers with evident symptoms of anxiety, depression and emotional distress received PST in the intervention group. The intervention group also consisted of a discussion with eight nurses, which was transcribed and submitted to content analysis. Conclusion Problem-Solving Therapy proved to be effective in reducing perceived anxiety, depression and emotional distress. We identified its strong points and obstacles as described by nurses.

Parent-Adolescent Conflict in African American Families.

Science.gov (United States)

Skinner, Olivenne D; McHale, Susan M

2016-10-01

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

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

DEFF Research Database (Denmark)

Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

2009-01-01

, and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged......PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented...... together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable...

Family in the values structure of future preschool teachers

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E.R. Kurmaeva

2013-10-01

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

[Coping strategies used by the family of a patient with acute fulminant hepatitis].

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Iriarte Cerdán, Laura; Ruiz de Galarreta, Leire Martínez; Olano Lizarraga, Maddi; García Vivar, Cristina

2012-04-01

In the holistic care to the patient, the family should be an important part because its members are also affected by the situation. Therefore, nursing work should be directed to both the individual and his environment, being of great help to identify family's needs in order to meet their specific needs accurately. Also in the process of recovery the family goes through several stages of coping, each of them have its own characteristics and nurses' interventions should be adapted to them. The aim of this paper is to evidence the importance of caring for the family, identifying the stages of coping, recognizing their needs and identifying relevant care. For this, a clinical case of a family with a relative hospitalised in an intensive care unit because of an acute fulminant hepatitis was developed. The instruments used to carry out the analysis of the case are: family's needs described by Leske et al., coping stages identified by Kubler-Ross, and ways of coping scale developed by Lazarus and Folkman. Nurses have a relevant role due to their close contact with people, this helps to become a factor which facilitates the interaction of patient and family within the hospital environment. A holistic approach of nursing care involves assessing the needs of families to develop strategies for effective interventions.

Marriage and Family Therapy: A Decade in Review.

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Piercy, Fred P.; Sprenkle, Douglas H.

1990-01-01

Summarizes trends in theory and research on marriage and family therapy over the past decade. Finds particularly noteworthy the debates over the "new epistemology" and the feminist critique of family therapy. On basis of identified trends, makes recommendations for research in the 1990s. (Author/NB)

Family caregivers of patients with frontotemporal dementia: An integrative review.

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Caceres, Billy A; Frank, Mayu O; Jun, Jin; Martelly, Melissa T; Sadarangani, Tina; de Sales, Paloma Cesar

2016-03-01

The purpose of this integrative review is to: (1) identify the characteristics of family caregivers of patients with frontotemporal dementia, (2) explore the impact of providing care on family caregivers' health and well-being, and (3) identify coping strategies used by family caregivers. Frontotemporal dementia is thought to be the second most common form of dementia after Alzheimer's disease. Family caregivers of patients with frontotemporal dementia face unique challenges due to its early onset, behavioral symptoms, and slow progression of decline. However, there is a dearth of research evaluating the health and wellbeing of family caregivers of patients with frontotemporal dementia. An integrative review was conducted using the Whittemore and Knafl methodology. An electronic search of the literature was conducted using four electronic databases: PubMed, Embase, CINAHL, and Web of Science. The Crowe Critical Appraisal tool was used to evaluate the quality of the selected articles. Findings of 11 articles informed this integrative review. Family caregivers of patients with frontotemporal dementia identify behavioral disturbances as most troubling. Spouses and female caregivers experience greater caregiver burden, distress, increased rates of depression, as well as decreased sleep related to behavior disturbances. Though less explored, providing care to those with behavioral disturbances may also impact caregiver physical health. Additionally, female caregivers are most likely to employ coping strategies, most commonly, adaptation and reframing. Effective interventions to reduce family caregiver burden are poorly understood but family caregivers suggest education and internet-based support groups are most helpful. Family caregivers of patients with frontotemporal dementia experience significant distress, which impacts their health and wellbeing. It is important for healthcare providers who care for patients with frontotemporal dementia to recognize the unique

Cochlear implant: the family's perspective.

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Vieira, Sheila de Souza; Dupas, Giselle; Chiari, Brasilia Maria

2018-07-01

To understand the family's experience of a child who uses a cochlear implant (CI). Specifically, to identify the difficulties, changes, and feelings entailed by deafness and the use of the CI; the coping strategies; and to understand the role of the family for the child with a CI. Qualitative research, using Symbolic Interactionism and Straussian Grounded Theory as the theoretical and methodological frameworks, respectively. Data collection instrument: semi-structured interview. A total of 9 families (32 individuals) participated in the study. The children's ages ranged from 6 to 11 years old (mean = 8.9 years old). Their experience is described in the following categories: Having to fight for results, Coping with difficult situations, Recognizing that you are not alone, Learning to overcome, and Having one's life restored by the implant. Cochlear implantation changes the direction of the child and the family's life by restoring the child's opportunity to hear and to obtain good results in her personal, social, and academic development. Even after implantation, the child continues to experience difficulties and requires the family's mobilization in order to be successful. The family is the principal actor in the process of the child's rehabilitation.

A Novel Tool for Peptide Pattern Recognition Identifies 13 Subgroups of the GH61 Family

DEFF Research Database (Denmark)

Busk, Peter Kamp; Lange, Mette; Lange, Lene

2011-01-01

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...

Mental health professionals' family-focused practice with families with dependent children: a survey study.

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Tungpunkom, Patraporn; Maybery, Darryl; Reupert, Andrea; Kowalenko, Nick; Foster, Kim

2017-12-08

Many people with a mental illness are parents caring for dependent children. These children are at greater risk of developing their own mental health concerns compared to other children. Mental health services are opportune places for healthcare professionals to identify clients' parenting status and address the needs of their children. There is a knowledge gap regarding Thai mental health professionals' family-focused knowledge and practices when working with parents with mental illness and their children and families. This cross -sectional survey study examined the attitudes, knowledge and practices of a sample (n = 349) of the Thai mental health professional workforce (nurses, social workers, psychologists, psychiatrists) using a translated version of the Family-Focused Mental Health Practice Questionnaire (FFMHPQ). The majority of clinicians reported no training in family (76.8%) or child-focused practice (79.7%). Compared to other professional groups, psychiatric nurses reported lower scores on almost all aspects of family-focused practice except supporting clients in their parenting role within the context of their mental illness. Social workers scored highest overall including having more workplace support for family-focused practice as well as a higher awareness of family-focused policy and procedures than psychiatrists; social workers also scored higher than psychologists on providing support to families and parents. All mental health care professional groups reported a need for training and inter-professional practice when working with families. The findings indicate an important opportunity for the prevention of intergenerational mental illness in whose parents have mental illness by strengthening the professional development of nurses and other health professionals in child and family-focused knowledge and practice.

Teen and Parent Perceptions of a Secondary School Family Course

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Stonely, Heather M.; Klein, Shirley R.

2004-01-01

Adolescent and parent focus groups were conducted to do a needs assessment and discover possible topics for a secondary school family class. Results included identifying teen and parent family-related needs and societal concerns; discovering where teens currently learn about family life; and receiving teen and parent feedback about a proposed…

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

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Tsutomu Ogata

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.

The Importance of Situational Awareness: A Qualitative Study of Family Members' and Nurses' Perspectives on Teaching During Family-Centered Rounds.

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Beck, Jimmy; Meyer, Rebecca; Kind, Terry; Bhansali, Priti

2015-10-01

Family-centered rounds (FCR) has become a leading model for pediatric inpatient rounding. During FCR, faculty must balance trainees' educational needs with patient care priorities. Investigators have examined trainees' views on effective teaching during FCR, but none have evaluated what family members and nurses consider to be effective teaching behaviors of attending physicians. The authors sought to explore family members' and nurses' perspectives on effective teaching behaviors during FCR. The authors conducted (2012-2013) a qualitative study of families and nurses at an academic children's hospital where FCR is the standard model for inpatient rounds. Nurses and families familiar with FCR participated in separate focus groups. The authors reviewed focus group transcripts using techniques of qualitative content analysis; they generated codes and developed categories, supported by illustrative quotations. Fifteen nurses and 13 family members participated in the focus groups. The unifying theme was that situational awareness on behalf of the attending physician is essential for FCR to be educational for all participants. The authors identified four categories of awareness-(1) cognitive factors, (2) logistics and time management, (3) physical environment, (4) emotional state-and developed a set of effective teaching strategies based on participants' comments. The findings of this study support previous work identifying effective FCR teaching strategies, but this study is the first to include the perspectives of families and nurses. The inclusion of these participants provides a framework for faculty development and training to improve the educational value of FCR.

Coping Strategies of Family Members of Hospitalized Psychiatric Patients

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Phyllis M. Eaton

2011-01-01

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.

Engaging families in physical activity research: a family-based focus group study.

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Brown, Helen Elizabeth; Schiff, Annie; van Sluijs, Esther M F

2015-11-25

Family-based interventions present a much-needed opportunity to increase children's physical activity levels. However, little is known about how best to engage parents and their children in physical activity research. This study aimed to engage with the whole family to understand how best to recruit for, and retain participation in, physical activity research. Families (including a 'target' child aged between 8 and 11 years, their parents, siblings, and others) were recruited through schools and community groups. Focus groups were conducted using a semi-structured approach (informed by a pilot session). Families were asked to order cards listing the possible benefits of, and the barriers to, being involved in physical activity research and other health promotion activities, highlighting the items they consider most relevant, and suggesting additional items. Duplicate content analysis was used to identify transcript themes and develop a coding frame. Eighty-two participants from 17 families participated, including 17 'target' children (mean age 9.3 ± 1.1 years, 61.1% female), 32 other children and 33 adults (including parents, grandparents, and older siblings). Social, health and educational benefits were cited as being key incentives for involvement in physical activity research, with emphasis on children experiencing new things, developing character, and increasing social contact (particularly for shy children). Children's enjoyment was also given priority. The provision of child care or financial reward was not considered sufficiently appealing. Increased time commitment or scheduling difficulties were quoted as the most pertinent barriers to involvement (especially for families with several children), but parents commented these could be overcome if the potential value for children was clear. Lessons learned from this work may contribute to the development of effective recruitment and retention strategies for children and their families. Making the wide

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Science.gov (United States)

Snow, A K; Tuohy, T M F; Sargent, N R; Smith, L J; Burt, R W; Neklason, D W

2015-10-01

Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven probands were identified with a deletion of promoter 1B. Using haplotype analysis spanning the APC locus, the seven families appear to be identical by descent from a common founder. The clinical phenotype of 19 mutation carriers is classical FAP with colectomy at an average age of 24. The majority of cases had a large number of duodenal and gastric polyps. Measurements of allele-specific expression of APC mRNA using TaqMan assay confirmed that relative expression in the allele containing the promoter 1B deletion was reduced 42-98%, depending on tissue type. This study confirms the importance of APC promoter deletions as a cause of FAP and identifies a founder mutation in FAP patients from the United States. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

OpenAIRE

Dinh, D.; White, J.; Hipwell, M.; Nguyen, T.; Pharris, A.

2017-01-01

Insights into disclosure by PLWHA can inform strategies for treatment and support, yet Vietnamese women's self-disclosure patterns are poorly understood. We conducted interviews with 12 HIV-positive women, identifying three principal factors influencing disclosure to family members: patrilocal residence, desire to protect own family, and the need for financial support. Women's decision-making about disclosure was significantly affected by dependence on or independence of parents-in-law and th...

Children exposed to intimate partner violence: Identifying differential effects of family environment on children's trauma and psychopathology symptoms through regression mixture models.

Science.gov (United States)

McDonald, Shelby Elaine; Shin, Sunny; Corona, Rosalie; Maternick, Anna; Graham-Bermann, Sandra A; Ascione, Frank R; Herbert Williams, James

2016-08-01

The majority of analytic approaches aimed at understanding the influence of environmental context on children's socioemotional adjustment assume comparable effects of contextual risk and protective factors for all children. Using self-reported data from 289 maternal caregiver-child dyads, we examined the degree to which there are differential effects of severity of intimate partner violence (IPV) exposure, yearly household income, and number of children in the family on posttraumatic stress symptoms (PTS) and psychopathology symptoms (i.e., internalizing and externalizing problems) among school-age children between the ages of 7-12 years. A regression mixture model identified three latent classes that were primarily distinguished by differential effects of IPV exposure severity on PTS and psychopathology symptoms: (1) asymptomatic with low sensitivity to environmental factors (66% of children), (2) maladjusted with moderate sensitivity (24%), and (3) highly maladjusted with high sensitivity (10%). Children with mothers who had higher levels of education were more likely to be in the maladjusted with moderate sensitivity group than the asymptomatic with low sensitivity group. Latino children were less likely to be in both maladjusted groups compared to the asymptomatic group. Overall, the findings suggest differential effects of family environmental factors on PTS and psychopathology symptoms among children exposed to IPV. Implications for research and practice are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

Siblings' Power and Influence in Polyadic Family Conflict During Early Childhood.

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Della Porta, Sandra; Howe, Nina

2017-06-01

This study examined sibling behavior during polyadic family conflicts (involving three or more family members) by identifying operational conflict elements (i.e., roles, topic), power strategies, effective influence of power, and social domain argumentation. Polyadic conflict sequences (n = 210) were identified in 35/39 families with two siblings (aged 4 and 6) and their parents observed at home. The dominant conflict topic, siblings' use of power and power strategy executed in relation to social domain argumentation, revealed unique qualities of conflict in the polyadic family context; effective use of power strategies to facilitate favorable outcomes differed by sibling birth order. Our account presents a nuanced view of the intricacies of polyadic family conflict, which provides unique opportunities for children's learning and socialization by siblings and parents. © 2017 Wiley Periodicals, Inc.

Adolescents as perpetrators of aggression within the family.

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Kuay, Hue San; Lee, Sarah; Centifanti, Luna C M; Parnis, Abigail C; Mrozik, Jennifer H; Tiffin, Paul A

2016-01-01

Although family violence perpetrated by juveniles has been acknowledged as a potentially serious form of violence for over 30years, scientific studies have been limited to examining the incidence and form of home violence. The present study examined the prevalence of family aggression as perpetrated by youths; we examined groups drawn from clinic-referred and forensic samples. Two audits of case files were conducted to systematically document aggression perpetrated by referred youths toward their family members. The purpose of the first audit was fourfold: i) to identify the incidence of the perpetration of family aggression among clinical and forensic samples; ii) to identify whether there were any reports of weapon use during aggressive episodes; iii) to identify the target of family aggression (parents or siblings); and iv) to identify the form of aggression perpetrated (verbal or physical). The second audit aimed to replicate the findings and to show that the results were not due to differences in multiple deprivation indices, clinical diagnosis of disruptive behavior disorders, and placement into alternative care. A sampling strategy was designed to audit the case notes of 25 recent forensic Child and Adolescent Mental Health Service (CAMHS) cases and 25 demographically similar clinic-referred CAMHS cases in the first audit; and 35 forensic cases and 35 demographically similar clinic-referred CAMHS cases in the second audit. Using ordinal chi-square, the forensic sample (audit 1=64%; audit 2=82.9%) had greater instances of family violence than the clinical sample (audit 1=32%; audit 2=28.6%). They were more likely to use a weapon (audit 1=69%; audit 2=65.5%) compared to the clinical sample (audit 1 and 2=0%). Examining only the aggressive groups, there was more perpetration of aggression toward parents (audit 1, forensic=92%, clinical=75%; audit 2, forensic=55.17%, clinical=40%) than toward siblings (audit 1, forensic=43%, clinical=50%; audit 2, forensic=27

Thematic content analysis of work-family interactions: Retired cosmonauts’ reflections

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Johnson, Phyllis J.; Asmaro, Deyar; Suedfeld, Peter; Gushin, Vadim

2012-12-01

Anecdotal evidence and qualitative research attest to the importance of work-family interactions pre-, during and post-missions. This study uses thematic content analysis to quantify characteristics of work-family interactions and how these changed by stage of cosmonauts' career, identifying the effect of space career variables (e.g., time in space and station) on such interactions during and post-career. Using a thematic scoring scheme developed for this study, we coded work-family interactions identified from interviews with 20 retired male cosmonauts. The majority of work-family interactions were ones in which work overlapped into family life and work hindered or interfered with the family situation. The most common resolution was that family adjusted to work, and the mood or tone about this outcome was almost equally divided among negative, positive and neutral. Changes in work-family interactions and their resolution over the cosmonaut's life showed that the significant interactions were most evident during the cosmonaut career. Although the cosmonaut career has high work demands, it did adjust for family when the need arose. The Russian Space Agency (RKS) eased the impact of the periodic absences, especially through regular communication sessions. Positive work-family interactions, i.e., work or family helping the opposite role, were more likely for those who had been on ISS, not Mir, and for those whose last flight was after 2000. Our data reflect retired cosmonauts' recollections of work-family interactions during their career. Examples of work overlapping into family life and work viewed as interfering with family life were possibly more salient or better remembered than work or family helping the other role.

Perceived Family Functioning Predicts Baseline Psychosocial Characteristics in U.S. Participants of a Family Focused Grief Therapy Trial.

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Schuler, Tammy A; Zaider, Talia I; Li, Yuelin; Masterson, Melissa; McDonnell, Glynnis A; Hichenberg, Shira; Loeb, Rebecca; Kissane, David W

2017-07-01

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.

School Psychologists' Family-School Partnering Experiences with Latinos

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Vega, Desireé; Lasser, Jon; Fernandez, Sarah E.

2017-01-01

The purpose of this phenomenological study was to identify the beliefs, perceptions, and actions of school psychologists toward family-school partnering (FSP) with Latino families in the public school system. Existing research in this area is extremely limited; therefore, the present study has significant implications for pre- and in-service…

[Teaching family medicine in Lausanne].

Science.gov (United States)

Bischoff, Thomas; Junod, Michel; Cornuz, Jacques; Herzig, Lilli; Bonvin, Raphael

2010-12-01

The Faculty of Biology and Medicine of Lausanne has integrated education of family medicine all along its new undergraduate medical curriculum. The Institute of general medicine is in charge to implement those offers among which two are presented hereafter. In the new module "Generalism" several courses cover the specificities of the discipline as for example medical decision in the practice. A mandatory one-month internship in the medical practice offers an experiential immersion into family medicine for all students. In a meeting at the end of their internship, students discuss in group with their peers their individual experiences and are asked to identify, based on their personal experience, the general concepts of the specialty of family medicine and general practice.

Extending family nursing: concepts from positive psychology.

Science.gov (United States)

Skerrett, Karen

2010-11-01

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.

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Directory of Open Access Journals (Sweden)

Ella R Thompson

2012-09-01

Full Text Available Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology for the majority of families with a multi-generational breast cancer predisposition is unknown. In this study, we used whole-exome sequencing of thirty-three individuals from 15 breast cancer families to identify potential predisposing genes. Our analysis identified families with heterozygous, deleterious mutations in the DNA repair genes FANCC and BLM, which are responsible for the autosomal recessive disorders Fanconi Anemia and Bloom syndrome. In total, screening of all exons in these genes in 438 breast cancer families identified three with truncating mutations in FANCC and two with truncating mutations in BLM. Additional screening of FANCC mutation hotspot exons identified one pathogenic mutation among an additional 957 breast cancer families. Importantly, none of the deleterious mutations were identified among 464 healthy controls and are not reported in the 1,000 Genomes data. Given the rarity of Fanconi Anemia and Bloom syndrome disorders among Caucasian populations, the finding of multiple deleterious mutations in these critical DNA repair genes among high-risk breast cancer families is intriguing and suggestive of a predisposing role. Our data demonstrate the utility of intra-family exome-sequencing approaches to uncover cancer predisposition genes, but highlight the major challenge of definitively validating candidates where the incidence of sporadic disease is high, germline mutations are not fully penetrant, and individual predisposition genes may only account for a tiny proportion of breast cancer families.

[Family adherence in serious mental disorder].

Science.gov (United States)

Martín Padilla, Ernesto; Obando Posada, Diana; Sarmiento Medina, Pedro

2017-10-09

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.

A cross-sectional descriptive study of the family functioning, health and social support of hospital patients with family violence backgrounds.

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Kivelä, Salla; Leppäkoski, Tuija; Helminen, Mika; Paavilainen, Eija

2017-12-19

Family violence (FV) has serious effects on the health and well-being of the family. The health sector plays a vital role in FV prevention by helping to identify abuse early, providing victims with the necessary treatment and referring patients to appropriate care. The aim of the present cross-sectional study was to describe the prevalence of FV among hospital patients, as well as to assess the association between family functioning, health and social support, considering patients as the perpetrators or victims of violence. The data were collected using a Family Functioning, Health and Social Support (FAFHES) questionnaire that was given to patients who visited a Finnish central hospital between October 2012 and April 2013. As a result, the data (N = 188) were contributed by the patients who returned the questionnaire and gave permission for a follow-up survey. The participation rate was 47%, of which 73% were women and 27% were men. Their ages ranged from 18 to 89 years. The data were analysed with quantitative methods using the unadjusted analyses and linear regression model. In total, 24% of both the male and female participants had experienced or used violence at home or in the family. Of these, 22 had been the perpetrators, and 23 had been the victims. Participants in relationships and who were living together had less violence than singles and those who were not living together. The family functioning and health of the participants who had experienced or used FV were worse than those of the participants who had not. Various patients can have an FV background, and nursing professionals are on the front line to identify and intervene in FV situations. The results of this study can be utilised in the treatment of FV victims and perpetrators by training healthcare workers to identify and intervene in violence. © 2017 Nordic College of Caring Science.

Food Insecurity Screening in Pediatric Primary Care: Can Offering Referrals Help Identify Families in Need?

Science.gov (United States)

Bottino, Clement J; Rhodes, Erinn T; Kreatsoulas, Catherine; Cox, Joanne E; Fleegler, Eric W

2017-07-01

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.

HALF-BROTHERS IN THE SCHULHOF FAMILY?

International Nuclear Information System (INIS)

Vokrouhlicky, David; Nesvorny, David

2011-01-01

Disruptive collisions in the asteroid belt produced groups of fragments known as the asteroid families. The studies of identified asteroid families help us to better understand issues related to impact physics, space weathering, asteroid interior, and collisional evolution of the main belt. Here, we analyze a family near the central main belt asteroid (2384) Schulhof. We show that the previously found group of objects around (81337) 2000 GP36 is actually a sub-cluster in the larger Schulhof family. Using backward integrations we demonstrate that the orbits of sub-cluster asteroids converge to that of (2384) Schulhof at 780 ± 100 kyr ago, suggesting that the breakup event happened very recently. Interestingly, a similar analysis of the two newly discovered members of the Schulhof family may indicate a second event ∼< 100 kyr ago (e.g., secondary collision, fission, satellite instability). If confirmed, the formation history of the Schulhof family would suggest that small asteroids may have very colorful lifetimes. Additional astrometric observations of the two new member asteroids will be needed to improve their present orbit and better constrain their past histories.

Doing gender (in) equality in Swedish family farming

OpenAIRE

Andersson, Elias

2014-01-01

Economic and social conditions on Swedish farms have altered in recent decades, restructuring the sector, but the family farm is still the primary production unit. Sweden is often described as a role model in gender equality, but a gender-unequal situation in farming has been identified, posing a political challenge. This thesis critically assessed how gender inequalities are reproduced within Swedish family farming by analysing how the 'doing' of family farming, in terms of labour and ma...

Relationship between Family Characteristics and Aggressive Behaviors of Children and Adolescents

Institute of Scientific and Technical Information of China (English)

YU Yizhen; SHI Junxia; HUANG Yan; WANG Jun

2006-01-01

In order to identify family factors obviously relevant to aggression, and offer a theoretical foundation for the prevention of aggression, 4010 students from primary and secondary schools in 5 different areas in Hubei province were surveyed. The Child Behavior Checklist "parents' form"(Chinese version) and the four scales of Family Environment Scale were used. A multiple logistic regression was used to identify risk factors of children's and adolescents' aggressive behavior. The results showed that maternal education, paternal occupation, family type, parental child-rearing attitude and patterns, students' interpersonal relationship were significantly associated with the children's and adolescents' aggression. The risk factors of aggression were parental child-rearing patterns, peer relationship, teacher-student relationship, and family conflicts.

Policy implications for familial searching.

Science.gov (United States)

Kim, Joyce; Mammo, Danny; Siegel, Marni B; Katsanis, Sara H

2011-11-01

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.

Impact of family structure and socio-demographic characteristics on child health and wellbeing in same-sex parent families: A cross-sectional survey.

Science.gov (United States)

Crouch, Simon Robert; McNair, Ruth; Waters, Elizabeth

2016-05-01

Children with same-sex attracted parents develop well in terms of their health and wellbeing. There are many recognised factors that have an impact on child health, in general, including individual, family and wider social mediators. The aim of this study is to determine the impact of family structure and socio-demographic characteristics on child health and wellbeing in Australian same-sex parent families. A cross-sectional survey of self-identified same-sex attracted parents from across Australia was used to collect information on child health and wellbeing between May and December 2012. Mixed-effects multiple linear regression models were used to identify associations between family structure/socio-demographic characteristics and child wellbeing. Child health outcomes were measured using the Child Health Questionnaire and the Strengths and Difficulties Questionnaire. In same-sex parent families, biological relationships, parental gender and parental education were not significantly associated with health and wellbeing. Parental income, rurality and stable parental relationships were associated with health and wellbeing, and living in a single-parent household was associated with poorer wellbeing. Stable dual parent families offer good outcomes for children with same-sex attracted parents. Family processes are most important. This study does not support the assertion that children require both male and female parents, nor that biological relationships are essential to health and wellbeing. This study provides scientific data from a cross-sectional Australian-based study to describe and understand health determinants for children in family contexts that comprise same-sex parent and all family contexts. It recommends equitable, stigma-free family support. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Missed opportunities in primary care: the importance of identifying depression through screening, family history, and chronic disease management.

Science.gov (United States)

Maradiegue, Ann H; Khan, Fakiha

2013-02-01

This study explored the adequacy of depression screening in a community health center. The medical charts of individuals (N = 90) enrolled at a community health center were randomly selected, reviewed, and compared to current standard-of-care guidelines for four elements: family history, screening for depression, control of chronic illnesses, and missed opportunities for preventive care. Family history documentation collected by the providers was limited and 44.4% had no family history. There was no routine depression screening process, although 48.9% of the clients had red flags (warning signals) for depression. Laboratory values used for screening control of chronic disease in the medical records were: fasting glucose levels ⩽100 mg/dL (46%), total cholesterol levels ⩽200 mg/dL (38%), and blood pressure ⩽120/80 mmHg (23%). The results highlight the need to focus on depression screening as part of preventive care and the management of chronic disease in the primary care setting. Copyright 2013, SLACK Incorporated.

Family caregiver recruitment via social media: challenges, opportunities and lessons.

Science.gov (United States)

Hansen, Dana; Sheehan, Denice K; Stephenson, Pam

2017-02-02

Illness blogs are a way seriously ill people communicate publicly about their illness journey. As communication about serious illness increases on social media, it is important to evaluate how this affects the family caregiver. However, identifying and accessing family caregivers remains challenging, especially via social media. The aim of this article is to report the opportunities, challenges and lessons learned from using social media to recruit family caregivers. Recruitment methods included posting study invitations on illness blogs, advertising through Facebook and placing study fliers in the community. Using social media to recruit was inexpensive and provided a wide geographical reach. One important finding was discovering the importance of using language in the recruitment materials that family caregivers could identify with to help deem themselves as eligible to participate in the study.

Familial risk of inflammatory bowel disease

DEFF Research Database (Denmark)

Trier Møller, Frederik; Andersen, Vibeke; Jess, Tine

2014-01-01

of familial CD cases was 12,15 percent of total CD cases and familial UC accounted for and 8,84 percent of total UC cases from 2007-2011. Patterns of IBD risk in family members to IBD-affected individuals appear from Table 1. The risk of CD was 9-fold increased in 1. degree relatives to at least two...... in the entire population. Individuals receiving at least 2 diagnoses of IBD during the time period (n=45,780) were identified using the Danish National Registry of Patients. Risk of IBD in family members to individuals with IBD was assessed by Poisson regression analysis. Results: The overall proportion...... individuals with IBD, 7.8 -fold increased in 1. degree relatives to one family member with CD, and even 2.8-fold increased if the 1. degree relative had UC. The same pattern was observed for risk of UC. Second-degree relatives to patients with CD or UC were also at significantly increased risk not only...

Family stress dynamics, domestic violence and their combined ...

African Journals Online (AJOL)

This study utilized the classical ABCX family crisis model in identifying how families perceive, interpret and react to various sources of stress confronting them and their perceived impact on their health. The study is timely because of the recent upsurge in domestic violence cases in Ghana, which are mainly attributable to ...

The impact of intra-group processes on family business success

Directory of Open Access Journals (Sweden)

Shelley Farrington

2011-03-01

Full Text Available Interpersonal ties and intra-group processes influence the ability of people to work together effectively as teams. In the context of the family business team, intra-group processes describe the interaction that takes place between the family members and the resultant psychological climate that exists in the family business. Given the increasing number of sibling teams among family businesses, as well as the challenges they face as team members, this study focuses on sibling teams in family businesses and the intra-group processes that influence their success. Consequently, the primary objective of this study is to identify and empirically test the intra-group processes influencing the effectiveness of sibling partnerships. A structured questionnaire was distributed to 1323 sibling partner respondents. The respondents were identified by means of a convenience snowball sampling technique, and the data were collected from 371 usable questionnaires. The empirical findings of this study show that the sibling relationship and fairness are important determinants of sibling team effectiveness.

Die Erziehungsmission der Familie: Aktuelle Herausforderungen und neue Konzeptionen

Directory of Open Access Journals (Sweden)

Józef Stala

2017-04-01

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.

Privacy and ethics in pediatric environmental health research-part II: protecting families and communities.

Science.gov (United States)

Fisher, Celia B

2006-10-01

In pediatric environmental health research, information about family members is often directly sought or indirectly obtained in the process of identifying child risk factors and helping to tease apart and identify interactions between genetic and environmental factors. However, federal regulations governing human subjects research do not directly address ethical issues associated with protections for family members who are not identified as the primary "research participant." Ethical concerns related to family consent and privacy become paramount as pediatric environmental health research increasingly turns to questions of gene-environment interactions. In this article I identify issues arising from and potential solutions for the privacy and informed consent challenges of pediatric environmental health research intended to adequately protect the rights and welfare of children, family members, and communities. I first discuss family members as secondary research participants and then the specific ethical challenges of longitudinal research on late-onset environmental effects and gene-environment interactions. I conclude with a discussion of the confidentiality and social risks of recruitment and data collection of research conducted within small or unique communities, ethnic minority populations, and low-income families. The responsible conduct of pediatric environmental health research must be conceptualized as a goodness of fit between the specific research context and the unique characteristics of subjects and other family stakeholders.

Family perceptions of intellectual disability: Understanding and support in Dar es Salaam

Science.gov (United States)

2012-01-01

When attempting to understand the construct of intellectual disability in different contexts, speaking to family members in addition to the individual with the disability may provide new insight about understandings of and responses to intellectual disability in society and may help to identify the forms of support that are available or needed to ensure the quality of life of people with disabilities. This article outlines and discusses interviews that were conducted in Dar es Salaam, Tanzania, with family members of children and adults with intellectual disabilities. These interviews explore how families came to understand that their child had an intellectual disability; the availability of family support; and family hopes and dreams for the future, and were a part of a wider exploratory study that gathered insight from individuals with disabilities, families, and other providers of support to explore understandings and perceptions of disability in Dar es Salaam. Understanding family experiences will help researchers, policy makers, non-governmental organisations, and others to identify family strengths and family support needs which can ultimately improve family quality of life and the quality of life of the member with a disability. PMID:28729979

Parental distress, family functioning, and social support in families with and without a child with neurofibromatosis 1.

Science.gov (United States)

Reiter-Purtill, Jennifer; Schorry, Elizabeth K; Lovell, Anne M; Vannatta, Kathryn; Gerhardt, Cynthia A; Noll, Robert B

2008-05-01

To compare parental adjustment, social support, and family functioning between families of children with neurofibromatosis 1 (NF1) and a group of demographically similar comparison families, and to examine the impact of disease severity. Questionnaires were completed at home by parents of 54 children with NF1 (54 mothers and 42 fathers) and 51 comparison children (49 mothers and 32 fathers). Few differences between groups were identified for parental distress, social support, or family environment. Greater neurological impairment in children with NF1 was associated with greater distress, more family conflict, less positive mealtime interactions, and less social support from the perspectives of mothers. Overall, parents of children with NF1 appear similar to parents of comparison children. Mothers who have children with NF1 characterized by greater neurological impairment may be at risk for more difficulties. Future work exploring long-term adjustment for these mothers as well as interventions to ameliorate any potential difficulties may be appropriate.

Predicting Barrett's Esophagus in Families: An Esophagus Translational Research Network (BETRNet) Model Fitting Clinical Data to a Familial Paradigm.

Science.gov (United States)

Sun, Xiangqing; Elston, Robert C; Barnholtz-Sloan, Jill S; Falk, Gary W; Grady, William M; Faulx, Ashley; Mittal, Sumeet K; Canto, Marcia; Shaheen, Nicholas J; Wang, Jean S; Iyer, Prasad G; Abrams, Julian A; Tian, Ye D; Willis, Joseph E; Guda, Kishore; Markowitz, Sanford D; Chandar, Apoorva; Warfe, James M; Brock, Wendy; Chak, Amitabh

2016-05-01

Barrett's esophagus is often asymptomatic and only a small portion of Barrett's esophagus patients are currently diagnosed and under surveillance. Therefore, it is important to develop risk prediction models to identify high-risk individuals with Barrett's esophagus. Familial aggregation of Barrett's esophagus and esophageal adenocarcinoma, and the increased risk of esophageal adenocarcinoma for individuals with a family history, raise the necessity of including genetic factors in the prediction model. Methods to determine risk prediction models using both risk covariates and ascertained family data are not well developed. We developed a Barrett's Esophagus Translational Research Network (BETRNet) risk prediction model from 787 singly ascertained Barrett's esophagus pedigrees and 92 multiplex Barrett's esophagus pedigrees, fitting a multivariate logistic model that incorporates family history and clinical risk factors. The eight risk factors, age, sex, education level, parental status, smoking, heartburn frequency, regurgitation frequency, and use of acid suppressant, were included in the model. The prediction accuracy was evaluated on the training dataset and an independent validation dataset of 643 multiplex Barrett's esophagus pedigrees. Our results indicate family information helps to predict Barrett's esophagus risk, and predicting in families improves both prediction calibration and discrimination accuracy. Our model can predict Barrett's esophagus risk for anyone with family members known to have, or not have, had Barrett's esophagus. It can predict risk for unrelated individuals without knowing any relatives' information. Our prediction model will shed light on effectively identifying high-risk individuals for Barrett's esophagus screening and surveillance, consequently allowing intervention at an early stage, and reducing mortality from esophageal adenocarcinoma. Cancer Epidemiol Biomarkers Prev; 25(5); 727-35. ©2016 AACR. ©2016 American Association for

A review of issues and concerns of family members of adult burn survivors.

Science.gov (United States)

Sundara, Diana C

2011-01-01

The purpose of this review is to synthesize what is known about the issues and concerns of families of adult burn survivors from research and clinical articles written between 1973 and 2009. Electronic database searching, ancestry searching, and electronic hand searching were performed to identify relevant articles. Seventeen research studies and 14 clinical articles were identified. Families are often in crisis immediately after the injury. This crisis involves strong emotions, some of which may persist over time. Throughout the course of hospitalization, family issues include worries about their loved one's physical appearance, logistical concerns, and the transition to home. For partners, role changes and sexual concerns may be of particular importance. Extended family, friends, the burn team, and other families affected by a burn injury are important sources of support for family members. Few studies have been conducted beyond the time of hospitalization. Clinical articles have identified issues not present in the research literature. Further research is needed that focuses more closely on families and their experiences both in and out of the hospital. Implications for burn care providers based on the findings of this review are discussed.

Intergenerational Transmission of Educational Aspirations in Chinese Families: Identifying Mediators and Moderators.

Science.gov (United States)

Wu, Nini; Hou, Yang; Wang, Qian; Yu, Chengfu

2018-06-01

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

Images of Couples and Families in Disney Feature-Length Animated Films.

Science.gov (United States)

Tanner, Litsa Renee; Haddock, Shelley A.; Zimmerman, Toni Schindler; Lund, Lori K.

2003-01-01

Examines themes about couples and families portrayed in 26 Disney animated classics and recent movies. Four overarching themes were identified: family relationships are a strong priority; families are diverse, but the diversity is often simplified; fathers are elevated, while mothers are marginalized; and couple relationships are created by…

FAMILY BUSINESSES AND THE DIFFICULTIES ENCOUNTERED BY

Directory of Open Access Journals (Sweden)

Alessandra Martins

2009-05-01

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.

A qualitative exploration of oncology nurses' family assessment practices in Denmark and Australia

DEFF Research Database (Denmark)

Coyne, Elisabeth; Dieperink, Karin B

2017-01-01

-term support for the patient, and nurses need to understand the family needs in order to provide holistic care. OBJECTIVE: The objective of the present study is to understand the factors that influence nurses' family assessment practices in adult oncology setting in Denmark and Australia. METHODS......: An interpretive qualitative study was conducted guided by the family systems theory. Focus groups were completed with 62 nurses working in adult oncology areas in Denmark and Australia. A thematic analysis and a computer-generated concept mapping were completed to identify themes within the data. RESULTS: Overall...... the nurse's role in family assessment. CONCLUSION: This study identified that nurses value family as part of patient care, however struggle to assess and support families during oncology care. There is a need for a structured assessment approach and education on family assessment, which could be used across...

Family Caregivers' Patterns of Positive and Negative Affect

Science.gov (United States)

Robertson, Suzanne M.; Zarit, Steven H.; Duncan, Larissa G.; Rovine, Michael J.; Femia, Elia E.

2007-01-01

Stressful and positive family caregiving experiences were examined as predictors of caregivers' patterns of positive and negative affect in a sample of families providing care for a relative with dementia (N = 234). Four affect pattern groups were identified: (a) Well Adjusted (i.e., high positive affect, low negative affect); (b) Ambiguous (i.e.,…

Indsigter og udfordringer i danske Lynch-syndrom-familier

DEFF Research Database (Denmark)

Therkildsen, Christina; Timshel, Susanne; Nilbert, Mef

2008-01-01

The Danish Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Register is a national resource that registers families with hereditary colorectal cancer. HNPCC is the most common type of hereditary colorectal cancer and carries an increased risk of other tumor types. Genetic diagnostics has...... identified 88 unique mutations in 164 Danish families delineated as Lynch syndrome families. Predictive genetic diagnostics enables the identification of high risk individuals, who are offered participation in surveillance programmes that effectively reduce morbidity and mortality in colorectal cancer....

Family Satisfaction With Nursing Home Care: The Role of Facility Characteristics and Resident Quality-of-Life Scores

Science.gov (United States)

Shippee, Tetyana P.; Henning-Smith, Carrie; Gaugler, Joseph E.; Held, Robert; Kane, Robert L.

2018-01-01

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. PMID:26534835

Practical education in family planning: integrative review

Directory of Open Access Journals (Sweden)

Creusa Ferreira da Silva

2017-07-01

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.

Maternal differential treatment in later life families and within-family variations in adult sibling closeness.

Science.gov (United States)

Gilligan, Megan; Suitor, J Jill; Nam, Sangbo

2015-01-01

In this article, we explore within-family differences in the closeness of sibling ties in adulthood. Specifically, we consider the sibship as a network and investigate the ways in which perceptions of mothers' differential treatment play a role in within-family variations in sibling closeness in midlife. Data were analyzed from 2,067 adult sibling dyads nested within 216 later life families, collected as part of the Within-Family Differences Study-II. Respondents reported the greatest closeness to siblings whom they perceived as favored by their mothers when they were not favored themselves, whereas respondents were less likely to choose siblings whom they perceived as disfavored by their mothers when they did not perceive themselves as disfavored. Variability in the strength of sibling ties within families suggests that some individuals receive greater benefits from this relationship than do their brothers and sisters. These findings shed new light on such within-family variations in sibling closeness by identifying how specific patterns of maternal differential treatment draw offspring toward some siblings and away from others. © The Author 2014. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Patterns of family health history communication among older African American adults.

Science.gov (United States)

Hovick, Shelly R; Yamasaki, Jill S; Burton-Chase, Allison M; Peterson, Susan K

2015-01-01

This qualitative study examined patterns of communication regarding family health history among older African American adults. The authors conducted 5 focus groups and 6 semi-structured interviews with African Americans aged 60 years and older (N = 28). The authors identified 4 distinct patterns of family health history communication: noncommunication, open communication, selective communication (communication restricted to certain people or topics), and one-way communication (communication not reciprocated by younger family members). In general, participants favored open family health history communication, often resulting from desires to change patterns of noncommunication in previous generations regarding personal and family health history. Some participants indicated that they were selective about what and with whom they shared health information in order to protect their privacy and not worry others. Others described family health history communication as one-way or unreciprocated by younger family members who appeared uninterested or unwilling to share personal and family health information. The communication patterns that the authors identified are consistent with communication privacy management theory and with findings from studies focused on genetic testing results for hereditary conditions, suggesting that individuals are consistent in their communication of health and genetic risk information. Findings may guide the development of health message strategies for African Americans to increase family health history communication.

Parenting among Wealthy Danish Families: A Concerted Civilising Process

Science.gov (United States)

Bach, Dil

2014-01-01

This article explores the parenting practices of wealthy Danish families and offers insight into the workings of dominant parenting norms within contemporary Danish society. Based on ethnographic fieldwork conducted among 15 families living north of Copenhagen, Denmark, this article identifies the parenting strategies of people with ample…

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

Science.gov (United States)

Okuda, Hiroko; Noguchi, Atsuko; Kobayashi, Hatasu; Kondo, Daiki; Harada, Kouji H; Youssefian, Shohab; Shioi, Hirotomo; Kabata, Risako; Domon, Yuki; Kubota, Kazufumi; Kitano, Yutaka; Takayama, Yasunori; Hitomi, Toshiaki; Ohno, Kousaku; Saito, Yoshiaki; Asano, Takeshi; Tominaga, Makoto; Takahashi, Tsutomu; Koizumi, Akio

2016-01-01

Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic study in six unrelated multigenerational Japanese families with episodic pain syndrome. Affected participants (n = 23) were characterized by infantile recurrent pain episodes with spontaneous mitigation around adolescence. This unique phenotype was inherited in an autosomal-dominant mode. Linkage analysis was performed for two families with 12 affected and nine unaffected members, and a single locus was identified on 3p22 (LOD score 4.32). Exome analysis (n = 14) was performed for affected and unaffected members in these two families and an additional family. Two missense variants were identified: R222H and R222S in SCN11A. Next, we generated a knock-in mouse model harboring one of the mutations (R222S). Behavioral tests (Hargreaves test and cold plate test) using R222S and wild-type C57BL/6 (WT) mice, young (8-9 weeks old; n = 10-12 for each group) and mature (36-38 weeks old; n = 5-6 for each group), showed that R222S mice were significantly (p pain. The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations.

Family History Is a Risk Factor for COPD

Science.gov (United States)

Hokanson, John E.; Lynch, David A.; Washko, George R.; Make, Barry J.; Crapo, James D.; Silverman, Edwin K.

2011-01-01

Background: Studies have shown that family history is a risk factor for COPD, but have not accounted for family history of smoking. Therefore, we sought to identify the effects of family history of smoking and family history of COPD on COPD susceptibility. Methods: We compared 821 patients with COPD to 776 control smokers from the Genetic Epidemiology of COPD (COPDGene) Study. Questionnaires captured parental histories of smoking and COPD, as well as childhood environmental tobacco smoke (ETS) exposure. Socioeconomic status was defined by educational achievement. Results: Parental history of smoking (85.5% case patients, 82.9% control subjects) was more common than parental history of COPD (43.0% case patients, 30.8% control subjects). In a logistic regression model, parental history of COPD (OR, 1.73; P < .0001) and educational level (OR, 0.48 for some college vs no college; P < .0001) were significant predictors of COPD, but parental history of smoking and childhood ETS exposure were not significant. The population-attributable risk from COPD family history was 18.6%. Patients with COPD with a parental history had more severe disease, with lower lung function, worse quality of life, and more frequent exacerbations. There were nonsignificant trends for more severe emphysema and airway disease on quantitative chest CT scans. Conclusions: Family history of COPD is a strong risk factor for COPD, independent of family history of smoking, personal lifetime smoking, or childhood ETS exposure. Although further studies are required to identify genetic variants that influence COPD susceptibility, clinicians should question all smokers, especially those with known or suspected COPD, regarding COPD family history. PMID:21310839