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Sample records for previously reported family

  1. 75 FR 17946 - Family Report, MTW Family Report

    Science.gov (United States)

    2010-04-08

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

  2. Differences between previously married and never married 'gay' men: family background, childhood experiences and current attitudes.

    Science.gov (United States)

    Higgins, Daryl J

    2004-01-01

    Despite a large body of literature on the development of sexual orientation, little is known about why some gay men have been (or remain) married to a woman. In the current study, a self-selected sample of 43 never married gay men ('never married') and 26 gay men who were married to a woman ('previously married') completed a self-report questionnaire. Hypotheses were based on five possible explanations for gay men's marriages: (a) differences in sexual orientation (i.e., bisexuality); (b) internalized homophobia; (c) religious intolerance; (d) confusion created because of childhood/adolescent sexual experiences; and/or (e) poor psychological adjustment. Previously married described their families' religious beliefs as more fundamentalist than never married. No differences were found between married' and never married' ratings of their sexual orientation and identity, and levels of homophobia and self-depreciation. Family adaptability and family cohesion and the degree to which respondents reported having experienced child maltreatment did not distinguish between previously married and never married. The results highlight how little is understood of the reasons why gay men marry, and the need to develop an adequate theoretical model.

  3. Previous experience of family violence and intimate partner violence in pregnancy.

    Science.gov (United States)

    Ludermir, Ana Bernarda; Araújo, Thália Velho Barreto de; Valongueiro, Sandra Alves; Muniz, Maria Luísa Corrêa; Silva, Elisabete Pereira

    2017-01-01

    To estimate differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. A nested case-control study was carried out within a cohort study with 1,120 pregnant women aged 18-49 years old, who were registered in the Family Health Strategy of the city of Recife, State of Pernambuco, Brazil, between 2005 and 2006. The cases were the 233 women who reported intimate partner violence in pregnancy and the controls were the 499 women who did not report it. Partner violence in pregnancy and previous experiences of violence committed by parents or other family members were assessed with a standardized questionnaire. Multivariate logistic regression analyses were modeled to identify differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. Having seen the mother suffer intimate partner violence was associated with physical violence in childhood (OR = 2.62; 95%CI 1.89-3.63) and in adolescence (OR = 1.47; 95%CI 1.01-2.13), sexual violence in childhood (OR = 3.28; 95%CI 1.68-6.38) and intimate partner violence during pregnancy (OR = 1.47; 95% CI 1.01 - 2.12). The intimate partner violence during pregnancy was frequent in women who reported more episodes of physical violence in childhood (OR = 2.08; 95%CI 1.43-3.02) and adolescence (OR = 1.63; 95%CI 1.07-2.47), who suffered sexual violence in childhood (OR = 3.92; 95%CI 1.86-8.27), and who perpetrated violence against the partner (OR = 8.67; 95%CI 4.57-16.45). Experiences of violence committed by parents or other family members emerge as strong risk factors for intimate partner violence in pregnancy. Identifying and understanding protective and risk factors for the emergence of intimate partner violence in pregnancy and its maintenance may help policymakers and health service managers to develop intervention strategies.

  4. Familial deletion 18p syndrome: case report

    Directory of Open Access Journals (Sweden)

    Lemyre Emmanuelle

    2006-07-01

    Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

  5. Previous experience of family violence and intimate partner violence in pregnancy

    Directory of Open Access Journals (Sweden)

    Ana Bernarda Ludermir

    2017-09-01

    Full Text Available ABSTRACT OBJECTIVE To estimate differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. METHODS A nested case-control study was carried out within a cohort study with 1,120 pregnant women aged 18–49 years old, who were registered in the Family Health Strategy of the city of Recife, State of Pernambuco, Brazil, between 2005 and 2006. The cases were the 233 women who reported intimate partner violence in pregnancy and the controls were the 499 women who did not report it. Partner violence in pregnancy and previous experiences of violence committed by parents or other family members were assessed with a standardized questionnaire. Multivariate logistic regression analyses were modeled to identify differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. RESULTS Having seen the mother suffer intimate partner violence was associated with physical violence in childhood (OR = 2.62; 95%CI 1.89–3.63 and in adolescence (OR = 1.47; 95%CI 1.01–2.13, sexual violence in childhood (OR = 3.28; 95%CI 1.68–6.38 and intimate partner violence during pregnancy (OR = 1.47; 95% CI 1.01 – 2.12. The intimate partner violence during pregnancy was frequent in women who reported more episodes of physical violence in childhood (OR = 2.08; 95%CI 1.43–3.02 and adolescence (OR = 1.63; 95%CI 1.07–2.47, who suffered sexual violence in childhood (OR = 3.92; 95%CI 1.86–8.27, and who perpetrated violence against the partner (OR = 8.67; 95%CI 4.57–16.45. CONCLUSIONS Experiences of violence committed by parents or other family members emerge as strong risk factors for intimate partner violence in pregnancy. Identifying and understanding protective and risk factors for the emergence of intimate partner violence in pregnancy and its maintenance may help

  6. Choice of contraception after previous operative delivery at a family ...

    African Journals Online (AJOL)

    Choice of contraception after previous operative delivery at a family planning clinic in Northern Nigeria. Amina Mohammed‑Durosinlorun, Joel Adze, Stephen Bature, Caleb Mohammed, Matthew Taingson, Amina Abubakar, Austin Ojabo, Lydia Airede ...

  7. Do attitudes of families concerned influence features of children who claim to remember previous lives?

    Science.gov (United States)

    Pasricha, Satwant K

    2011-01-01

    Reported cases of nearly 2600 children (subjects) who claim to remember previous lives have been investigated in cultures with and without belief in reincarnation. The authenticity in most cases has been established. To study the influence of attitudes of parents of the subjects, families of the deceased person with whom they are identified and attention paid by others on the features of the cases. The study is based on field investigations. Data is derived from analysis of a larger series of an ongoing project. Information on initial and subsequent attitudes of subjects' mothers was available for 292 and 136 cases, respectively; attitudes of 227 families of deceased person (previous personality) with whom he is identified, and the extent of attention received from outsiders for 252 cases. Observations and interviews with multiple firsthand informants on both sides of the case as well as some neutral informants supplemented by examination of objective data were the chief methods of investigation. The initial attitude of mothers varied from encouragement (21%) to neutral or tolerance (51%) to discouragement (28%). However, it changed significantly from neutrality to taking measures to induce amnesia in their children for previous life memories due to various psychosocial pressures and prevalent beliefs. Families of the previous personalities, once convinced, showed complete acceptance in a majority of cases. Outside attention was received in 58% cases. The positive attitude of parents might facilitate expression of memories but subsequently attitudes of persons concerned do not seem to alter features of the cases.

  8. Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

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    Mohammed Saadah

    2014-01-01

    Conclusions: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

  9. Surgical Management of Familial Trigeminal Neuralgia With Different Inheritance Patterns: A Case Report

    Directory of Open Access Journals (Sweden)

    Claudia Cervera-Martinez

    2018-05-01

    Full Text Available IntroductionTrigeminal neuralgia is a disorder characterized by unilateral electric shock-like pain, distributed in one or more trigeminal nerve branches and triggered by usually innocuous stimuli. Among the few case reports and literature reviews on familial trigeminal neuralgia (FTN, the results of several suggest the involvement of genes associated with biochemical alterations or atherosclerotic vascular malformations.BackgroundWe present four cases of FTN within two families (family A: two brothers; family B: two sisters. All patients were submitted to surgical treatment by the same surgeon.DiscussionCases 1 and 2 (family A exhibited FTN with an uncommon autosomal recessive pattern and clinical features consistent with previous literature reviews and case reports. However, in cases 3 and 4 (family B, we found FTN with a dominant autosomal pattern and an unusual physiopathology characterized by arachnoid adhesions.ConclusionWe conclude, in this case report, that there are several inheritance patterns as well as physiopathology that may be involved in FTN, and that both patterns described in our reported cases were successfully managed with surgery.

  10. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

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    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  11. Self-Report Measures of Family Competence.

    Science.gov (United States)

    Green, Robert G.

    1987-01-01

    Describes and compares two self-report measures of family competence: the Family Awareness Scales (FAS) (Green and Kolevzon, late 1970s) and the Self-Report Family Inventory (SFI) (Beavers, 1983). Discusses reliability and validity. Their focus on the "insider" (family member) is different from the traditional examination of family…

  12. Families Affected by Huntington's Disease Report Difficulties in Communication, Emotional Involvement, and Problem Solving.

    Science.gov (United States)

    Jona, Celine M H; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C; Andrews, Sophie C

    2017-01-01

    Family functioning in Huntington's disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. The aim of the current study was to assess family functioning in HD families. We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD.

  13. Cloning and Expression of Three New Azotobacter vinelandii Genes Closely Related to a Previously Described Gene Family Encoding Mannuronan C-5-Epimerases

    OpenAIRE

    Svanem, Britt Iren Glærum; Skjåk-Bræk, Gudmund; Ertesvåg, Helga; Valla, Svein

    1999-01-01

    The cloning and expression of a family of five modular-type mannuronan C-5-epimerase genes from Azotobacter vinelandii (algE1 to -5) has previously been reported. The corresponding proteins catalyze the Ca2+-dependent polymer-level epimerization of β-d-mannuronic acid to α-l-guluronic acid (G) in the commercially important polysaccharide alginate. Here we report the identification of three additional structurally similar genes, designated algE6, algE7, and algY. All three genes were sequenced...

  14. Progression of desmoid tumors in familial polyposis: a case report

    International Nuclear Information System (INIS)

    Lee, Yong Il; Lee, Hae Kyung; Hong, Hyung Sook; Kwon, Kui Hyang; Choi, Deuk Lin; Kim, Jae Joon

    2001-01-01

    Multiple large bowel polyps are the hallmark of familial adenomatous polyposis (FAP), and many progress to colorectal cancer. Desmoid tumors are more common in patients with FAP than in other people, occurring, particulary, in those who have previously undergone prophylatic total colectomy. In such patients, desmoid tumors are a common cause of death. In an FAP patient without extracolic menifestation, who has undergone prophylatic surgery, multifocal desmoid tumors occur periodically. We report the serial radiologic findings of progressive desmoid tumors in FAP, drawing attention to the related findings of previous research

  15. Progression of desmoid tumors in familial polyposis: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yong Il; Lee, Hae Kyung; Hong, Hyung Sook; Kwon, Kui Hyang; Choi, Deuk Lin; Kim, Jae Joon [Soonchunhyang Univ. College of Medicine, A-san (Korea, Republic of)

    2001-01-01

    Multiple large bowel polyps are the hallmark of familial adenomatous polyposis (FAP), and many progress to colorectal cancer. Desmoid tumors are more common in patients with FAP than in other people, occurring, particulary, in those who have previously undergone prophylatic total colectomy. In such patients, desmoid tumors are a common cause of death. In an FAP patient without extracolic menifestation, who has undergone prophylatic surgery, multifocal desmoid tumors occur periodically. We report the serial radiologic findings of progressive desmoid tumors in FAP, drawing attention to the related findings of previous research.

  16. Families Affected by Huntington’s Disease Report Difficulties in Communication, Emotional Involvement, and Problem Solving

    Science.gov (United States)

    Jona, Celine M.H.; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C.; Andrews, Sophie C.

    2017-01-01

    Background: Family functioning in Huntington’s disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. Objective: The aim of the current study was to assess family functioning in HD families. Methods: We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. Results: The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. Conclusion: These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD. PMID:28968240

  17. Is parental competitive ability in winter negatively affected by previous springs' family size?

    Science.gov (United States)

    Fokkema, Rienk W; Ubels, Richard; Tinbergen, Joost M

    2017-03-01

    Reproductive behavior cannot be understood without taking the local level of competition into account. Experimental work in great tits ( Parus major ) showed that (1) a survival cost of reproduction was paid in environments with high levels of competition during the winter period and (2) experimentally manipulated family size negatively affected the ability of parents to compete for preferred breeding boxes in the next spring. The fact that survival was affected in winter suggests that the competitive ability of parents in winter may also be affected by previous reproductive effort. In this study, we aim to investigate whether (1) such carryover effects of family size on the ability of parents to compete for resources in the winter period occurred and (2) this could explain the occurrence of a survival cost of reproduction under increased competition. During two study years, we manipulated the size of in total 168 great tit broods. Next, in winter, we induced competition among the parents by drastically reducing the availability of roosting boxes in their local environment for one week. Contrary to our expectation, we found no negative effect of family size manipulation on the probability of parents to obtain a roosting box. In line with previous work, we did find that a survival cost of reproduction was paid only in plots in which competition for roosting boxes was shortly increased. Our findings thus add to the scarce experimental evidence that survival cost of reproduction are paid under higher levels of local competition but this could not be linked to a reduced competitive ability of parents in winter.

  18. Do family physicians retrieve synopses of clinical research previously read as email alerts?

    Science.gov (United States)

    Grad, Roland; Pluye, Pierre; Johnson-Lafleur, Janique; Granikov, Vera; Shulha, Michael; Bartlett, Gillian; Marlow, Bernard

    2011-11-30

    A synopsis of new clinical research highlights important aspects of one study in a brief structured format. When delivered as email alerts, synopses enable clinicians to become aware of new developments relevant for practice. Once read, a synopsis can become a known item of clinical information. In time-pressured situations, remembering a known item may facilitate information retrieval by the clinician. However, exactly how synopses first delivered as email alerts influence retrieval at some later time is not known. We examined searches for clinical information in which a synopsis previously read as an email alert was retrieved (defined as a dyad). Our study objectives were to (1) examine whether family physicians retrieved synopses they previously read as email alerts and then to (2) explore whether family physicians purposefully retrieved these synopses. We conducted a mixed-methods study in which a qualitative multiple case study explored the retrieval of email alerts within a prospective longitudinal cohort of practicing family physicians. Reading of research-based synopses was tracked in two contexts: (1) push, meaning to read on email and (2) pull, meaning to read after retrieval from one electronic knowledge resource. Dyads, defined as synopses first read as email alerts and subsequently retrieved in a search of a knowledge resource, were prospectively identified. Participants were interviewed about all of their dyads. Outcomes were the total number of dyads and their type. Over a period of 341 days, 194 unique synopses delivered to 41 participants resulted in 4937 synopsis readings. In all, 1205 synopses were retrieved over an average of 320 days. Of the 1205 retrieved synopses, 21 (1.7%) were dyads made by 17 family physicians. Of the 1205 retrieved synopses, 6 (0.5%) were known item type dyads. However, dyads also occurred serendipitously. In the single knowledge resource we studied, email alerts containing research-based synopses were rarely retrieved

  19. Spinocerebellar ataxia type 7: Report of an Indian family

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    Gurusidheshwar M Wali

    2013-01-01

    Full Text Available Spinocerebellar ataxia type 7 (SCA7 is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported from India and the neighbouring Asian countries . The present report describes the neurogenetic findings of a family of SCA7, from the northern part of Karnataka in South India. It documents the wide intrafamilial phenotypic variability, which could be correlated with the CAG repeat counts and phenomenon of anticipation. Genotype phenotype correlation highlighted certain disparities in comparison with the previous studies. The report highlights the need for multiethnic population studies and the role of genetic counseling and prenatal testing in SCA7 patients.

  20. Lack of Cetuximab induced skin toxicity in a previously irradiated field: case report and review of the literature

    Science.gov (United States)

    2010-01-01

    Introduction Mutation, amplification or dysregulation of the EGFR family leads to uncontrolled division and predisposes to cancer. Inhibiting the EGFR represents a form of targeted cancer therapy. Case report We report the case of 79 year old gentlemen with a history of skin cancer involving the left ear who had radiation and surgical excision. He had presented with recurrent lymph node in the left upper neck. We treated him with radiation therapy concurrently with Cetuximab. He developed a skin rash over the face and neck area two weeks after starting Cetuximab, which however spared the previously irradiated area. Conclusion The etiology underlying the sparing of the previously irradiated skin maybe due to either decrease in the population of EGFR expressing cells or decrease in the EGFR expression. We raised the question that "Is it justifiable to use EGFR inhibitors for patients having recurrence in the previously irradiated field?" We may need further research to answer this question which may guide the physicians in choosing appropriate drug in this scenario. PMID:20478052

  1. Parent and Child Reporting of Corporal Punishment: New Evidence from the Fragile Families and Child Wellbeing Study.

    Science.gov (United States)

    Schneider, William; MacKenzie, Michael; Waldfogel, Jane; Brooks-Gunn, Jeanne

    2015-06-01

    This paper provides new evidence on parent and child reporting of corporal punishment, drawing on data from the Fragile Families and Child Wellbeing Study, a birth cohort study of families in 20 medium to large US cities. In separate interviews, 9 year olds and their mothers (N=1,180 families) were asked about the frequency of corporal punishment in the past year. Mothers and children were asked questions with slightly different response categorize which are harmonized in our analysis. Overall, children reported more high frequency corporal punishment (spanking or other physical punishment more than 10 times per year) than their mothers did; this discrepancy was seen in both African-American and Hispanic families (but not White families), and was evident for both boys and girls. These results suggest that reporting of frequency of corporal punishment is sensitive to the identity of the reporter and that in particular child reports may reveal more high frequency punishment than maternal reports do. However, predictors of high frequency punishment were similar regardless of reporter identity; in both cases, risk of high frequency punishment was higher when the child was African-American or had high previous levels of behavior problems.

  2. FAMILIAL AMYLOID POLYNEUROPATHY——CLINICAL REPORT OF A FAMILY

    Institute of Scientific and Technical Information of China (English)

    李延峰; 郭玉璞; 池田修一; 方定华

    1996-01-01

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

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

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    female-headed families than for married-couple families. The comped families than for married-couple families. The composition of children's families and the time parents have for their children affect child rearing. Consequent to the increase in female-headed households, rising economic and personal need, and increased opportunities for women, the proportion of mothers who are in the workforce has climbed steadily over the past several decades. Currently, approximately two thirds of all mothers with children younger than 18 years are employed. Most families with young children depend on child care, and most child care is not of good quality. Reliance on child care involves longer days for children and families, the stress imposed by schedules and created by transitions, exposure to infections, and considerable cost. An increasing number and proportion of parents are also devoting time previously available to their children to the care of their own parents. The so-called "sandwich generation" of parents is being pulled in multiple directions. The amount and use of family time also has changed with a lengthening workday, including the amount of commuting time necessary to travel between work and home, and with the intrusion of television and computers into family life. In public opinion polls, most parents report that they believe it is more difficult to be a parent now than it used to be; people seem to feel more isolated, social and media pressures on and enticements of their children seem greater, and the world seems to be a more dangerous place. Social and public policy has not kept up with these changes, leaving families stretched for time and stressed to cope and meet their responsibilities. What can and what should pediatrics do to help families raise healthy and well-adjusted children? How can individual pediatricians better support families? FAMILY PEDIATRICS: The American Academy of Pediatrics (AAP) Board of Directors appointed the Task Force on the Family to

  4. Familial Multiple Myeloma: Report on Two Families and Discussion of Screening Options

    Directory of Open Access Journals (Sweden)

    Gerkes Erica H

    2007-06-01

    Full Text Available Abstract Multiple myeloma (MM is a relatively rare haematological malignancy seen in older persons. It has an unknown aetiology and usually occurs incidentally within a family. However, several families have been reported with multiple cases of MM, so that the existence of hereditary MM has been postulated although no causative germline mutations have been detected so far. First-degree relatives of MM patients have been reported to have a relative risk between two and four times higher than normal of developing MM and we presume the risks are higher for relatives in the case of familial MM. Here we report on two families with MM who requested presymptomatic screening of healthy relatives. Although risk estimates for asymptomatic relatives in these types of families are not available, a clinically significant risk of developing MM cannot be excluded. We suggest that, in a research setting, screening for MM could be offered to individuals with more than one first-degree affected relative, or to those with one first-degree and at least one second-degree relative with MM. We propose a screening programme of annual protein electrophoresis of blood and urine, starting at age 40 (or earlier if a family member presented with MM at a younger age.

  5. Familial Transient Global Amnesia

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    R.Rhys Davies

    2012-12-01

    Full Text Available Following an episode of typical transient global amnesia (TGA, a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The study of familial TGA cases might facilitate the understanding of TGA aetiology.

  6. Comparison of children's self-reports of depressive symptoms among different family interaction types in northern Taiwan

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    Yen Lee-Lan

    2007-06-01

    Full Text Available Abstract Background Previous research has shown that family interactions are associated with depressive symptoms in children. However, detailed classifications of family interaction types have not been studied thoroughly. This study aims to understand the types of family interactions children experience and to identify the specific types of family interactions that are associated with a higher risk of depressive symptoms in children. Methods Data used in the study was collected as part of the Child and Adolescent Behavior in Long term Evolution (CABLE project in 2003. CABLE is a longitudinal cohort study that commenced in 2001 and collects data annually from children in Taipei city and Hsinchu county in northern Taiwan. The data analyzed in this study was that obtained from the sixth graders (aged 11 to 12 years old in 2003. Of the 2,449 sixth graders, 51.2% were boys and 48.8% were girls. Factor analysis and cluster analysis were used to investigate the types of family interactions. One way ANOVA was used to establish the relationship between family interaction types and children's self-reports of depressive symptoms. Results Based on the results of factor analysis, the latent factors for family interactions included supporting activities, psychological control, parental discipline, behavioral supervision, and family conflict. After conducting cluster analysis using factor scores, four types of family interactions were revealed: supervised (29.66%, disciplined (13.56%, nurtured (40.96% and conflict (15.82%. Children from the disciplined or conflict families were more likely to report depressive symptoms. Children from the nurtured families were least likely to report depressive symptoms. Conclusion Family interactions can be classified into four different types, which are related to children's self-reports of depressive symptoms. The creation of a family interaction environment that is beneficial for children's mental health is an important

  7. Parenting and Family Support for Families 'at risk' - Implications from Child Abuse Reports

    Directory of Open Access Journals (Sweden)

    Ann Marie Halpenny

    2012-01-01

    Full Text Available The importance of family experiences on children’s development and wellbeing has been widely documented. Yet, recent reports generated by inquiries into child abuse and neglect in the Irish context raise disturbing questions with regard to how the severe maltreatment of children can occur within the family context. It is imperative that the messages generated from these inquiries can effectively inform policy and practice in terms of protecting children from harm and providing support to families at-risk. The present paper draws together key issues for parenting and family support for families ‘at risk’ based on the Roscommon and Monageer inquiries with a view to gaining insight into key issues which need to be addressed in terms of protecting children from harm and providing support for parents experiencing adversity. A number of implications arising from these reports are outlined and discussed. Specifically, the need to amplify the focus on support for parenting in the context of poverty and substance abuse is highlighted with a particular emphasis on developing sensitive screening and assessment for parents who may be difficult to engage with due to chronic mental health issues. The importance of accessing the voice of children within the provision of family support is also underlined in these findings. A key recommendation from these reports is that the needs, wishes and feelings of each child must be considered as well as the totality of the family situation. Moreover, the need for staff in child welfare and protection services to have access to ongoing training and professional development to meet the complex and changing needs of the children and families they are working with is also highlighted. Specifically, ongoing training for frontline staff in understanding the effects of drug and alcohol dependency, and, in particular, the effects on parenting and parent-child relationships is underscored in findings from these reports.

  8. Reliability of GMFCS family report questionnaire

    DEFF Research Database (Denmark)

    Rackauskaite, Gija; Thorsen, Poul; Uldall, Peter Vilhelm

    2012-01-01

    Purpose: To examine the reliability of the web-based GMFCS Family Report Questionnaire (GMFCS-FR) between 8 and 11 years old children, compared with the GMFCS-Expanded and Revised (GMFCS-E&R). Method: The GMFCS-FR was translated from the English GMFCS-FR into Danish after the CanChild guidelines;...... Danish children with CP. The tendency for less-ability rating by families is important when performing and comparing results from epidemiological studies based on GMFCS-FR and GMFCS-E&R. [Box: see text].......Purpose: To examine the reliability of the web-based GMFCS Family Report Questionnaire (GMFCS-FR) between 8 and 11 years old children, compared with the GMFCS-Expanded and Revised (GMFCS-E&R). Method: The GMFCS-FR was translated from the English GMFCS-FR into Danish after the CanChild guidelines......; only the order of levels was chosen like in the GMFCS-E&R. Families of 30 children with spastic and dystonic cerebral palsy (age from 8 to 11 years, randomly selected from a cerebral palsy register) answered the GMFCS-FR and were later interviewed by two physiotherapists. Participants and non...

  9. Correlates of Adolescent-reported and Parent-reported Family Conflict Among Canadian Adolescents With Bipolar Disorder.

    Science.gov (United States)

    Timmins, Vanessa; Swampillai, Brenda; Hatch, Jessica; Scavone, Antonette; Collinger, Katelyn; Boulos, Carolyn; Goldstein, Benjamin I

    2016-01-01

    Family conflict exacerbates the course of bipolar disorder (BP) among adults. However, few studies have examined family conflict among adolescents with BP, and fewer have looked at adolescent-reported and parent-reported family conflict separately. Subjects were 89 adolescents, aged 13 to 19 years, with a diagnosis of BP on the basis of the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (KSADS-PL). Subjects were divided into high-conflict and low-conflict groups using a median split on the Conflict Behavior Questionnaire (child report and parent report). The χ(2) analyses and independent samples t tests were performed for univariate analyses. Multivariable logistic regression analyses were performed on variables with Padolescent-reported Conflict Behavior Questionnaire scores were significantly correlated (r=0.50, Padolescent-reported family conflict was positively associated with recent manic symptoms and emotional dysregulation, and negatively associated with socioeconomic status and lifetime psychiatric hospitalization. Bipolar subtype was significantly associated with high versus low family conflict. The limitations of this study included being a cross-sectional study, use of a medium-sized sample, and lack of a control group. Despite substantial agreement between adolescents and parents regarding the amount of family conflict, there were meaningful differences in the factors associated with adolescent-reported and parent-reported conflict. These findings demonstrate the importance of ascertaining family conflict from adolescents as well as from parents. Moreover, these findings can potentially inform family therapy, which is known to be effective for adolescents with BP.

  10. Sustainability Reporting in Family Firms: A Panel Data Analysis

    Directory of Open Access Journals (Sweden)

    Giovanna Gavana

    2016-12-01

    Full Text Available We analyze the largely unexplored differences in sustainability reporting within family businesses using a sample of 230 non-financial Italian listed firms for the period 2004–2013. Drawing on legitimacy theory and stakeholder theory, integrated with the socio-emotional wealth (SEW approach, we study how family control, influence and identification shape a firm’s attitude towards disclosing its social and environmental behavior. Our results suggest that family firms are more sensitive to media exposure than their non-family counterparts and that family control enhances sustainability disclosure when it is associated to a family’s direct influence on the business, by the founder’s presence on the board or by having a family CEO. In cases of indirect influence, without family involvement on the board, the level of family ownership is negatively related to sustainability reporting. On the other hand, a formal identification of the family with the firm by business name does not significantly affect social disclosure.

  11. [Electronic cigarettes - effects on health. Previous reports].

    Science.gov (United States)

    Napierała, Marta; Kulza, Maksymilian; Wachowiak, Anna; Jabłecka, Katarzyna; Florek, Ewa

    2014-01-01

    Currently very popular in the market of tobacco products have gained electronic cigarettes (ang. E-cigarettes). These products are considered to be potentially less harmful in compared to traditional tobacco products. However, current reports indicate that the statements of the producers regarding to the composition of the e- liquids not always are sufficient, and consumers often do not have reliable information on the quality of the product used by them. This paper contain a review of previous reports on the composition of e-cigarettes and their impact on health. Most of the observed health effects was related to symptoms of the respiratory tract, mouth, throat, neurological complications and sensory organs. Particularly hazardous effects of the e-cigarettes were: pneumonia, congestive heart failure, confusion, convulsions, hypotension, aspiration pneumonia, face second-degree burns, blindness, chest pain and rapid heartbeat. In the literature there is no information relating to passive exposure by the aerosols released during e-cigarette smoking. Furthermore, the information regarding to the use of these products in the long term are not also available.

  12. The Impact of Family Engagement and Child Welfare Services on Maltreatment Re-reports and Substantiated Re-reports.

    Science.gov (United States)

    Fuller, Tamara; Zhang, Saijun

    2017-08-01

    Despite decades of debate about the most effective ways to intervene with families reported to child protective services (CPS), little evidence exists regarding the types of services or approach that reduce children's risk of additional maltreatment. The current study used data collected during a statewide experimental evaluation of CPS to examine the impact of numerous service variables, family engagement, and family characteristics on the risk of maltreatment re-reports and substantiated re-reports among families initially reported for neglect and risk of harm. The sample included 4,868 families with screened-in reports that were randomly assigned to receive either an investigation or an assessment. The results of the Cox regression analyses found that service duration, intensity, and breadth were unrelated to maltreatment re-report or substantiated re-reports, but caseworker ratings of the service-need match were associated with both. The provision of domestic violence services was related to decreased risk of maltreatment re-reports. Increased levels of family engagement were associated with lowered risk of both maltreatment re-reports and substantiated re-reports. Once the effects of services, engagement, and family characteristics were taken into account, CPS response pathway (investigation or assessment) had no relationship to maltreatment re-reports or substantiated re-reports.

  13. Mental Health and Family Relations: Correlated Reports from People Who Inject Drugs and their Family Members in Vietnam

    Science.gov (United States)

    Li, Li; Tuan, Nguyen Anh; Liang, Li-Jung; Lin, Chunqing; Farmer, Shu C.; Flore, Martin

    2013-01-01

    Background This article explores the association of people who inject drugs and their family members in terms of mental health and family relations. The objective was to understand the family context and its impact on people who inject drugs in a family-oriented culture in Vietnam. Methods Cross-sectional assessment data were gathered from 83 people who inject drugs and 83 of their family members recruited from four communes in Phú Thọ province, Vietnam. Depressive symptoms and family relations were measured for both people who inject drugs and family members. Internalized shame and drug-using behavior were reported by people who inject drugs, and caregiver burden was reported by family members. Results We found that higher level of drug using behavior of people who inject drugs was significantly associated with higher depressive symptoms and lower family relations reported by themselves as well as their family members. Family relations reported by people who inject drugs and their family members were positively correlated. Conclusion The findings highlight the need for interventions that address psychological distress and the related challenges faced by family members of people who inject drugs. The article has policy implication which concludes with an argument for developing strategies that enhance the role of families in supporting behavioral change of people who inject drugs. PMID:23910167

  14. [Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

    Science.gov (United States)

    Cammarata-Scalisi, Francisco; Cozar, Mónica; Grinberg, Daniel; Balcells, Susana; Asteggiano, Carla G; Martínez-Domenech, Gustavo; Bracho, Ana; Sánchez, Yanira; Stock, Frances; Delgado-Luengo, Wilmer; Zara-Chirinos, Carmen; Chacín, José Antonio

    2015-04-01

    Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

  15. The family Cyclobacteriaceae

    Digital Repository Service at National Institute of Oceanography (India)

    AnilKumar, P.; Srinivas, T.N.R.

    , carotenoid biosynthesis, antibiotic resistance, and quorum-sensing regulation were found Pathogenicity is not reported among the Cyclobacteriaceae members This contribution is a modified and updated version of previous family descriptions (Nedashkovskaya OI...

  16. Mother and Child Reports of Hurricane Related Stressors: Data from a Sample of Families Exposed to Hurricane Katrina

    Science.gov (United States)

    Lai, Betty S.; Beaulieu, Brooke; Ogokeh, Constance E.; Self-Brown, Shannon; Kelley, Mary Lou

    2015-01-01

    Background: Families exposed to disasters such as Hurricane Katrina are at risk for numerous adverse outcomes. While previous literature suggests that the degree of disaster exposure corresponds with experiencing negative outcomes, it is unclear if parents and children report similar levels of disaster exposure. Objective: The purpose of this…

  17. Familial myasthenia gravis: report of four cases

    Directory of Open Access Journals (Sweden)

    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.

  18. Possible X linked congenital mitochondrial cardiomyopathy in three families.

    OpenAIRE

    Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A

    1993-01-01

    Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...

  19. Familial occurrence of lip pits: A case report

    Directory of Open Access Journals (Sweden)

    Motesaddi Zaranadi M

    2002-06-01

    Full Text Available Lip pits are among the rarest congenital deformities recorded. Initially reported in 1845, it’s familial occurrence has been reported just once. These developmental anomalies occur either as an isolated defect or in association with other developmental deformities including cleft lip, cleft palate or both. It may be located at the commisures of the lips or in the midline of the lower lip. It is often inherited as an autosomal dominant trait with variable penetrance.Our report of a family in which all of the three children (two girls and a boy and their father wre involved in concert with the latter statement.

  20. Family Influences on Self-Reported Delinquency among High School Students.

    Science.gov (United States)

    Peiser, Nadine C.; Heaven, Patrick C. L.

    1996-01-01

    Analyzes the effect of certain family processes on adolescents' self-reported delinquency and investigates whether self-esteem and locus of control mediate these effects. Results indicate that parental discipline style predicts self-reported delinquency. Also, a link between positive family relations and high self-esteem among males emerged. (RJM)

  1. Familial chondrocalcinosis in the Spanish population.

    Science.gov (United States)

    Fernandez Dapica, M P; Gómez-Reino, J J

    1986-06-01

    We have found in our clinic a 28.1% prevalence of familial chondrocalcinosis among 149 family members of 32 patients with calcium pyrophosphate dihydrate deposition disease. The clinical and radiological characteristics of these familial chondrocalcinosis patients were similar to those of the Chiloes with familial chondrocalcinosis previously reported. No significant clinical or radiological differences were detected between our sporadic and familial chondrocalcinosis patients. Our findings support the hypothesis that the Chiloes familial chondrocalcinosis was carried to Chile by Spanish immigrants.

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

    Science.gov (United States)

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

    2015-01-01

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

  3. Self-Reported Work and Family Stress of Female Primary Teachers.

    Science.gov (United States)

    Thomas, Narelle; Clarke, Valerie; Lavery, Judy

    2003-01-01

    Results of a self-report questionnaire indicated that female primary teachers in Australia report moderate levels of global, work, and family stress. Time and workload pressure was the major work stressor, and responsibility for child rearing the major family stressor. Work stress and home stress both impacted on each other. (EV)

  4. Familial Discoid Medial Meniscus Tear in Three Members of a Family: A Case Report and Review of Literature

    OpenAIRE

    Ahmed Ali, Raheel; McKay, Scott

    2014-01-01

    Background. A discoid meniscus is a thickened variant of the normal C-shaped meniscus prone to injury. Discoid medial meniscal tears have rarely been reported within families and may suggest familial or developmental origins. Methods. We report the cases of two Caucasian brothers with symptomatic discoid medial meniscus tears. A literature review was conducted addressing discoid medial meniscus and cases of familial meniscus tears. Case Presentation. Physically active brothers presented with ...

  5. Examining the Relationship between Family Meal Frequency and Individual Dietary Intake: Does Family Cohesion Play a Role?

    Science.gov (United States)

    Welsh, Ericka M.; French, Simone A.; Wall, Melanie

    2011-01-01

    Objective: To confirm previously reported associations between family meal frequency and dietary intake, and to examine family cohesion as a potential mediator of this relationship. Design: Cross-sectional observational study. Data collected at baseline via questionnaire. Setting: Randomized, controlled household weight gain prevention trial.…

  6. Familial polycystic kidney disease in Nigeria: A report of two cases ...

    African Journals Online (AJOL)

    A case of familial polycystic kidney disease is reported. Although isolated cases of adult polycystic kidney disease have been reported in our environment, no case to our knowledge has been reported with a familial link. Polycystic kidney disease is said to be rare in Africans. Although it commonly terminates in chronic renal ...

  7. Parent-Reported Family Functioning Among Children With Cleft Lip/Palate.

    Science.gov (United States)

    Crerand, Canice E; Rosenberg, Janine; Magee, Leanne; Stein, Margot B; Wilson-Genderson, Maureen; Broder, Hillary L

    2015-11-01

    To examine family functioning related to sociodemographic and clinical characteristics in youth with cleft lip and/or palate (CL/P). Cross-sectional, multi-site investigation. Six U.S. cleft centers. A diverse sample of 1200 children with CL/P and their parents. Parents completed the Family Environment Scale (FES), which assesses three domains of family functioning: cohesion (or closeness), expressiveness (open expression of feelings), and conflict. Demographic and clinical characteristics were also assessed including race, ethnicity, type of insurance, and surgical recommendations. The FES scores for families seeking team evaluations for their youth with CL/P (mean age = 11.6 years) fall within the average range compared with normative samples. Families receiving surgical recommendations for their youth also had FES scores in the average range, yet families of children recommended for functional surgery reported greater cohesion, expressiveness, and less conflict compared with those recommended for aesthetic surgery (P conflict domain. Families with private insurance reported significantly greater cohesion (P functioning across domains was in the average range. However, observed differences by race, ethnicity, type of insurance, and surgical recommendation may warrant consideration in clinical management for patients and families.

  8. Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

    Science.gov (United States)

    Radio, Francesca Clementina; Di Meglio, Lavinia; Agolini, Emanuele; Bellacchio, Emanuele; Rinelli, Martina; Toscano, Paolo; Boldrini, Renata; Novelli, Antonio; Di Meglio, Aniello; Dallapiccola, Bruno

    2018-03-03

    Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  9. 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.

  10. Crisis in Family Law: Children as Victims of Divorce. Report #R101.

    Science.gov (United States)

    National Council for Children's Rights, Washington, DC.

    Emphasizing the shortcomings of family law and their impact on divorced families and children, this report discusses a variety of topics related to divorce. Topics covered in the report include the following: (1) divorce statistics; (2) methods of resolving family disputes; (3) the marital contract; (4) the public's image of divorced fathers; (5)…

  11. Choice of contraception after previous operative delivery at a family ...

    African Journals Online (AJOL)

    Materials and Methods: A retrospective study was conducted at the Barau Dikko Teaching Hospital from 1st January, 2000 .... tertiary healthcare centers, they can access family planning ... those of higher parity may have opted for sterilization.

  12. Familial polythelia associated with dental anomalies: a case report.

    Science.gov (United States)

    Fonseca, Gabriel M; Cantín, Mario

    2014-01-01

    Polythelia has been defined as the presence of supernumerary nipples without accessory glandular tissue. Usually, these growths follow imaginary mammary lines running from the armpits to the groin. Although the presence of dental anomalies may occasion only a simple cosmetic problem with specific clinical considerations, the association with familial polythelia has been scarcely reported. This paper reports on a case of polythelia that is associated with dental anomalies in an Argentine family and discusses suggestions for a thorough dental history and medical consultation to prevent possible pathological conditions or potential malignant transformation of mammary tissues.

  13. Self-reported previous knee injury and low knee function increase knee injury risk in adolescent female football.

    Science.gov (United States)

    Clausen, M B; Tang, L; Zebis, M K; Krustrup, P; Hölmich, P; Wedderkopp, N; Andersen, L L; Christensen, K B; Møller, M; Thorborg, K

    2016-08-01

    Knee injuries are common in adolescent female football. Self-reported previous knee injury and low Knee injury and Osteoarthritis Outcome Score (KOOS) are proposed to predict future knee injuries, but evidence regarding this in adolescent female football is scarce. The aim of this study was to investigate self-reported previous knee injury and low KOOS subscale score as risk factors for future knee injuries in adolescent female football. A sample of 326 adolescent female football players, aged 15-18, without knee injury at baseline, were included. Data on self-reported previous knee injury and KOOS questionnaires were collected at baseline. Time-loss knee injuries and football exposures were reported weekly by answers to standardized text-message questions, followed by injury telephone interviews. A priori, self-reported previous knee injury and low KOOS subscale scores (female football. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

    Directory of Open Access Journals (Sweden)

    Jian Jiu Chen

    2015-11-01

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

  15. Familial association of pseudohypoparathyroidism and psoriasis: case report

    OpenAIRE

    Montenegro Junior,Renan Magalhães; Paula,Francisco José Albuquerque de; Foss,Norma Tiraboshi; Foss,Milton Cesar

    2002-01-01

    CONTEXT: The association between psoriasis and hypoparathyroidism has been reported by several authors, and it has been suggested that abnormalities in calcium homeostasis may be involved in the development or exacerbation of psoriasis. However, so far there have only been two reports of pseudohypoparathyroidism associated with psoriasis. OBJECTIVE: To describe the familial occurrence of this association for the first time. CASE REPORTS: Two siblings with psoriasis associated with pseudohypop...

  16. Familial benign chronic neutropenia associated with periodontal disease. A case report.

    Science.gov (United States)

    Deasy, M J; Vogel, R I; Macedo-Sobrinho, B; Gertzman, G; Simon, B

    1980-04-01

    A rare case report of periodontal disease associated with familial benign chronic neutropenia is presented. The medical, dental and family histories as well as clinical and histologic observations are described and discussed.

  17. Hereditary proctalgia fugax and constipation: report of a second family.

    Science.gov (United States)

    Celik, A F; Katsinelos, P; Read, N W; Khan, M I; Donnelly, T C

    1995-04-01

    A second family with hereditary proctalgia fugax and internal anal sphincter hypertrophy associated with constipation is described. Anorectal ultrasonography, manometry, and sensory tests were conducted in two symptomatic and one asymptomatic subjects within the same family and further clinical information was obtained from other family members. The inheritance would correspond to an autosomal dominant condition with incomplete penetration, presenting after the second decade of life. Physiological studies showed deep, ultraslow waves and an absence of internal anal sphincter relaxation on rectal distension in the two most severely affected family members, suggesting the possibility of a neuropathic origin. Both of these patients had an abnormally high blood pressure. After treatment with a sustained release formulation of the calcium antagonist, nifedipine, their blood pressure returned to normal, anal tone was reduced, and the frequency and intensity of anal pain was suppressed. These together improved the quality of the patients' sleep, which had previously been very troubled because of night time attacks of anal pain.

  18. Case report of a family with benign familial neutropenia and the implications for the general dental practitioner.

    Science.gov (United States)

    Casey, Christine; Brooke, Tony; Davies, Rebecca; Franklin, Deborah

    2011-03-01

    Benign familial neutropenia (BFN) is a condition where there is a decrease in circulating neutrophils in the blood and patients suffer from oral manifestations which include: persistant periodontal disease, recurrent neutropenic ulceration and candidal infections. This report discusses a family affected by BFN and the effects on their oral health. Benign familial neutropenia is a rare condition and this article aims to raise awareness among general dental practitioners so that prompt referral and management in secondary care can be arranged.

  19. Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

    OpenAIRE

    Abdalla, E. M.; Morsy, H.

    2011-01-01

    Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was ...

  20. Logic of Accounting: The Case of Reporting Previous Options in Norwegian Activation Encounters

    Science.gov (United States)

    Solberg, Janne

    2017-01-01

    The article deals with the enactment of client resistance in Norwegian vocational rehabilitation encounters. More specific, a practice here called "reporting previous options" is analyzed by using the resources of ethnomethodological conversation analysis (CA) in five instances as doing some sort of accounting. In response to the…

  1. Granulomatous lobular mastitis: report of a case with previously undescribed histopathological abnormalities.

    Science.gov (United States)

    Axelsen, R A; Reasbeck, P

    1988-10-01

    A 41-yr-old multiparous woman presented with a discrete breast lump which proved histologically to be an example of granulomatous lobular mastitis. The clinical and histological features were similar to those noted in previous reports. Additional histological features in the present case were an intense mononuclear cell infiltration of lobular and ductal epithelium, associated with nuclear fragments morphologically suggestive of apoptosis. These appearances, which have not previously been described, are illustrated, together with the more classical features of the condition well demonstrated by the present case. The novel histological features noted here suggest that the development of granulomatous lobular mastitis may be at least in part immunologically mediated, and that the cellular infiltrates seen may be a manifestation of cell-mediated destruction of mammary epithelium.

  2. Brief report: development of the inflammatory bowel disease family responsibility questionnaire.

    Science.gov (United States)

    Greenley, Rachel Neff; Doughty, Alyssa; Stephens, Mike; Kugathasan, Subra

    2010-03-01

    To present psychometric data on youth and parent versions of the Inflammatory Bowel Disease-Family Responsibility Questionnaire (IBD-FRQ), a measure of family involvement in IBD management. Fifty-eight adolescents with inflammatory bowel disease (IBD), along with 55 mothers and 26 fathers completed the IBD-FRQ, a demographics questionnaire, and a measure of family involvement in decision making in non-IBD domains. Medical information was obtained via chart review. Support for the internal consistency of the IBD-FRQ was obtained. Evidence of validity was documented via moderate to high intercorrelations among reporters. Youth involvement increased with youth age, while maternal and paternal involvement decreased with youth age. Across all reporters, maternal involvement was higher than paternal involvement. Preliminary analyses offer support for the measure's reliability and validity. The measure shows promise as a means of assessing family involvement in IBD condition management; however, further validation studies are needed.

  3. Genetic transmission of fibrodysplasia ossificans progressiva : report of two cases in a family

    International Nuclear Information System (INIS)

    Pyo, Hyun Soon; Hwang, Ho Kyeung; Park, Byung Moon

    2001-01-01

    Fibrodysplasia ossificans progressiva (FOP) is a rare connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae and skeletal muscles. We document the radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP

  4. Genetic transmission of fibrodysplasia ossificans progressiva : report of two cases in a family

    Energy Technology Data Exchange (ETDEWEB)

    Pyo, Hyun Soon; Hwang, Ho Kyeung; Park, Byung Moon [Kwangmyungsungae General Hospital, Kwangmyung (Korea, Republic of)

    2001-08-01

    Fibrodysplasia ossificans progressiva (FOP) is a rare connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae and skeletal muscles. We document the radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP.

  5. Creating Opportunity for Families: A Two-Generation Approach. KIDS COUNT Policy Report

    Science.gov (United States)

    Gencer, Arin

    2014-01-01

    Nearly half of the nation's families with young children struggle to make ends meet. A new KIDS COUNT policy report makes the case for creating opportunity for families by addressing the needs of parents and their children simultaneously. "Creating Opportunity for Families: A Two-Generation Approach" describes a new approach to reducing…

  6. Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives

    NARCIS (Netherlands)

    Janssens, A.C.J.W.; Henneman, L.; Detmar, S.B.; Khoury, M.J.; Steyerberg, E.W.; Eijkemans, M.J.C.; Mushkudiani, N.; Oostra, B.A.; Duijn, C.M. van; MacKenbach, J.P.

    2012-01-01

    Objective: We investigated the accuracy of self-reported family history for diabetes, hypertension, and overweight against two reference standards: family history based on physician-assessed health status of relatives and on self-reported personal health status of relatives. Study Design and

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

    Science.gov (United States)

    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.

  8. Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry.

    Science.gov (United States)

    Ramos, Bruna Ribeiro de Andrade; D'Elia, Maria Paula Barbieri; Amador, Marcos Antônio Trindade; Santos, Ney Pereira Carneiro; Santos, Sidney Emanuel Batista; da Cruz Castelli, Erick; Witkin, Steven S; Miot, Hélio Amante; Miot, Luciane Donida Bartoli; da Silva, Márcia Guimarães

    2016-06-01

    Ancestry information can be useful in investigations of diseases with a genetic or infectious background. As the Brazilian population is highly admixed physical traits tend to be poor indicators of ancestry. The assessment of ancestry by ancestry informative markers (AIMs) can exclude the subjectivity of self-declared ethnicity and reported family origin. We aimed to evaluate the reliability of self-reported ethnicity or reported family origin as indicators of genomic ancestry in a female population from the Southeast of Brazil. Two cohorts were included: 404 women asked to self-report their ethnicity (Pop1) and 234 women asked to report their family's origin (Pop2). Identification of AIMs was performed using a panel of 61 markers and results were plotted against parental populations-Amerindian, Western European and Sub-Saharan African-using Structure v2.3.4. In Pop1 57.4 % of women self-reported as white, 34.6 % as brown and 8.0 % as black. Median global European, Amerindian and African contributions were 66.8, 12.6 and 16.6 %. In Pop2, 66.4 % of women declared European origin, 23.9 % African origin and 26.9 % Amerindian. Median global European, Amerindian and African contributions were 80.8, 7.3 and 7.6 %, respectively. Only 31.0 and 21.0 % of the global variation in African and European contributions, respectively, could be explained by self-reported ethnicity and reported family origin only accounted for 20.0 and 5.0 % of the variations observed in African and European ancestries, respectively. Amerindian ancestry did not influence self-reported ethnicity or declared family origin. Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry in these Brazilian populations.

  9. A report of a probable case of familial Guillain Barre syndrome

    Directory of Open Access Journals (Sweden)

    Mohammad Barzegar

    2012-01-01

    Full Text Available Although it is a sporadic disease, few studies have reported cases of Guillain Barre Syndrome (GBS in families which postulate a genetic susceptibility. Human leukocyte antigen (HLA typing is an area of discussion in GBS though none of them are considered definitive. In recent years, more studies have evaluated HLA typing in sporadic cases while rarely it has been assessed in familial ones. We report a woman and her daughter experiencing GBS and their HLA typing in a 2-year interval.

  10. INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study.

    Science.gov (United States)

    Bouatia-Naji, Nabila; De Graeve, Franck; Brönner, Günter; Lecoeur, Cécile; Vatin, Vincent; Durand, Emmanuelle; Lichtner, Peter; Nguyen, Thuy T; Heude, Barbara; Weill, Jacques; Lévy-Marchal, Claire; Hebebrand, Johannes; Froguel, Philippe; Meyre, David

    2008-06-01

    Previous studies have described genetic associations of the insulin gene variable number tandem repeat (INS VNTR) variant with childhood obesity and associated phenotypes. We aimed to assess the contribution of INS VNTR genotypes to childhood obesity and variance of insulin resistance, insulin secretion, and birth weight using family-based design. Participants were either French or German whites. We used transmission disequilibrium tests (TDTs) for assessing binary traits and quantitative pedigree disequilibrium tests for assessing continuous traits. In contrast to previous findings, we did not observe any familial association with childhood obesity (T = 50%, P = 0.77) in the 1,023 families tested. In French obese children, INS VNTR did not associate with fasting insulin levels (P = 0.23) and class I allele showed only borderline association with increased insulin secretion index at 30 min (P = 0.03). INS VNTR did not associate with birth weight in obese children (P = 0.98) and TDT analyses in 350 French families with history of low birth weight (LBW) showed no association with this condition (P = 0.92). In summary, our study, the largest performed so far, does not support the previously reported associations between INS VNTR and childhood obesity, insulin resistance, or birth weight, and does not suggest any major role for this variant in modulating these traits.

  11. Selection bias in family reports on end of life with dementia in nursing homes

    NARCIS (Netherlands)

    van der Steen, J.T.; Deliens, L.; Ribbe, M.W.; Onwuteaka-Philipsen, B.D.

    2012-01-01

    Background: Selective participation in retrospective studies of families recruited after the patient's death may threaten generalizability of reports on end-of-life experiences. Objectives: To assess possible selection bias in retrospective study of dementia at the end of life using family reports.

  12. Familial florid Cemento-osseous dysplasia - case report and review of literature.

    Science.gov (United States)

    Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

  13. A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

    DEFF Research Database (Denmark)

    Lindquist, Suzanne Granhøj; Møller, Lisbeth Birk; Dali, Christine I.

    2017-01-01

    Spinocerebellar ataxia type 11 (SCA11) is rare and has previously been described in four families worldwide. We report a Danish family with onset of symptoms in early childhood and affected family members in two generations. The proband, a Danish female born in 1968, and family members were...... examined. Exome sequencing was performed and a “movement disorders” gene panel consisting of approximately 200 genes was used for filtering, while Sanger sequencing was used for subsequent testing for the mutation in the family. Onset of symptoms in affected family members was in early childhood. A novel...... delineates the phenotypic spectrum of the rare SCA11 disease. In contrast to previously reported cases, onset of symptoms was in early childhood and the mutation was de novo in the proband....

  14. Non-familial cherubism: A case report with its surgical management

    Directory of Open Access Journals (Sweden)

    Shital A Hungund

    2013-01-01

    Full Text Available Cherubism is an autosomal-dominant inherited syndrome; it starts in early childhood and involutes by puberty. It is characterized by excessive bone degradation of the jaws and development of fibrous tissue masses. Non-familial cherubism is a rare entity, which needs to be documented. This paper describes the findings of non-familial cherubism. An 11-year-old male patient reported with bilateral swellings of the jaws and unerupted teeth. Extensive gingival overgrowth, cherubic facial appearance, multilocular osteolytic lesions in radiographs and family history lead to the diagnosis of non-familial cherubism. Treatment included full mouth excision of the gingival tissue by gingivectomy with both manual instrumentation and electrosurgery. Patient is being monitored and recalled for frequent follow-ups. Dental practitioners need to be alert with patients presenting with gingival overgrowth.

  15. 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

  16. High accuracy of family history of melanoma in Danish melanoma cases

    DEFF Research Database (Denmark)

    Wadt, Karin A W; Drzewiecki, Krzysztof T; Gerdes, Anne-Marie

    2015-01-01

    The incidence of melanoma in Denmark has immensely increased over the last 10 years making Denmark a high risk country for melanoma. In the last two decades multiple public campaigns have sought to increase the awareness of melanoma. Family history of melanoma is a known major risk factor...... but previous studies have shown that self-reported family history of melanoma is highly inaccurate. These studies are 15 years old and we wanted to examine if a higher awareness of melanoma has increased the accuracy of self-reported family history of melanoma. We examined the family history of 181 melanoma...

  17. Familial Aggregation of Non-Hodgkin's Lymphoma (NHL. A Case Report

    Directory of Open Access Journals (Sweden)

    Loves Sandra SCM

    2006-08-01

    Full Text Available Abstract A family is reported in which three male siblings of Asian descent developed non-Hodgkin's lymphoma (NHL. Case 1 was diagnosed with indolent follicular lymphoma stage IIIA at age 45. Case 2 presented with large B-cell lymphoma stage IIB at age 56. Chromosomal investigation of the peripheral blood did not show abnormalities. Chemotherapy induced a complete remission. However, after a period of nearly ten years he developed acute myeloid leukaemia. Case 3 developed large B-cell lymphoma stage IVA at age 52. Cytogenetic analysis in peripheral blood was normal. Shared genetic and environmental risk factors remain to be identified in this family. Familial aggregation of NHL is uncommon. In some families, various forms of immunodeficiency have been found. In addition to coincidental clustering of cases, and rare cases explained by known tumour syndromes such as Li-Fraumeni (like syndrome, other familial cases may share as yet unknown genetic and/or environmental risk factors.

  18. Expenditures on Children by Families: 1997 Annual Report.

    Science.gov (United States)

    Lino, Mark

    Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 1997 dollars using the Consumer Price Index. Data and…

  19. Expenditures on Children by Families: 1999 Annual Report.

    Science.gov (United States)

    Lino, Mark

    Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 1999 dollars using the Consumer Price Index. Data and…

  20. Expenditures on Children by Families: 1998 Annual Report.

    Science.gov (United States)

    Lino, Mark

    Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 1998 dollars using the Consumer Price Index. Data and…

  1. Expenditures on Children by Families: 2000 Annual Report.

    Science.gov (United States)

    Lino, Mark

    Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 2000 dollars using the Consumer Price Index. Data and…

  2. Expenditures on Children by Families: 2001 Annual Report.

    Science.gov (United States)

    Lino, Mark

    Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 2001 dollars using the Consumer Price Index. Data and…

  3. Expenditures on Children by Families: 2002 Annual Report.

    Science.gov (United States)

    Lino, Mark

    Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 2002 dollars using the Consumer Price Index. Data and…

  4. Familial juvenile hyperuricemic nephropathy : report on a new mutation and a pregnancy

    NARCIS (Netherlands)

    Lhotta, Karl; Gehringer, A; Jennings, P; Kronenberg, F.; Brezinka, C; Andersone, I; Strazdins, V

    BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. CASE REPORTS AND RESULTS: A Latvian family suffering from FJHN is

  5. Familial myasthenia gravis: report of four cases Miastenia grave familial: registro de quatro casos

    Directory of Open Access Journals (Sweden)

    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.Os autores registram dois pares de gêmeos com miastenia grave, pertencentes a duas famílias diferentes. Este é o único registro de miastenia familial durante os últimos 20 anos, num total de 145 pacientes examinados na Clínica Neurológica da FMUSP. Apesar do fato de a miastenia grave não ter características hereditárias, os aspectos peculiares dos quatro pacientes justificam o presente registro. Os dois pares de gêmeos nasceram de pais não miastênicos e sem consanguinidade. A doença iniciou-se no nascimento, evoluindo com ptose bilateral parcial da pálpebra superior precocemente em todos os pacientes. O curso da moléstia tem sido favorável. Não havia timoma.

  6. Self-reported previous knee injury and low knee function increase knee injury risk in adolescent female football

    DEFF Research Database (Denmark)

    Clausen, Mikkel Bek; Tang, L; Zebis, M K

    2016-01-01

    with low KOOS subscale scores (Sport/Recreational (RR: 2.2) and Quality of Life (RR: 3.0) (P time-loss knee...... questionnaires were collected at baseline. Time-loss knee injuries and football exposures were reported weekly by answers to standardized text-message questions, followed by injury telephone interviews. A priori, self-reported previous knee injury and low KOOS subscale scores (... as independent variables in the risk factor analyses. The study showed that self-reported previous knee injury significantly increased the risk of time-loss knee injury [relative risk (RR): 3.65, 95% confidence (CI) 1.73-7.68; P time-loss knee injury was also significantly increased in players...

  7. Mal de Meleda: A Report of Two Cases In One Family

    Directory of Open Access Journals (Sweden)

    M.Kantor

    2006-08-01

    Full Text Available Mal de Meleda is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma, lichenoid skin lesions, perioral erythema, brachydactyly and nail abnormalities. We are reporting two cases of a clinically typical disease in a family. No consanguineous relationship between the parents was known and cases could not be detected in three generations of the patient's family.

  8. Parents with Psychosis: A Pilot Study Examining Self-Report Measures Related to Family Functioning.

    Science.gov (United States)

    Plant, Karen; Byrne, Linda; Barkla, Joanne; McLean, Duncan; Hearle, Jenny; McGrath, John

    2002-01-01

    Examines the utility of various self-report instruments related to family functioning in families where a parent has a psychotic disorder, and explores associations between these instruments and symptoms in the parent. There were significant associations between objective measures of negative symptoms and self-report scores related to problems in…

  9. Influence of family type and parenting behaviours on teenage sexual behaviour and conceptions.

    Science.gov (United States)

    Bonell, C; Allen, E; Strange, V; Oakley, A; Copas, A; Johnson, A; Stephenson, J

    2006-06-01

    Longitudinal data were used to explore relations between teenage pregnancy, sexual behaviour, and family type. The study examined whether students from lone parent and/or teenage mother initiated families more commonly report sex, lack of contraception at first sex, and/or conceptions by age 15/16, and whether such associations can be explained by low parental strictness, difficult parent-child communication, and/or low parental input into sex education. Up to date longitudinal UK research on family influences on conceptions is lacking, as is longitudinal research on family influences on sexual behaviour. No previous studies have comprehensively examined effects of parenting behaviours. Unlike previous research, this study tested theories suggesting that parenting deficits among lone parent and teenage initiated families increase risk of teenage pregnancy among their children. Secondary analysis of data from a trial of sex education. Girls and boys from lone parent families or having mothers who were teenagers when they were born were more likely to report sex but not lack of contraception at first sex by age 15/16. Girls and boys with mothers having them as teenagers, and boys but not girls from lone parent families, were more likely to report being involved in conceptions by age 15/16. Only the association between teenage mother family and girls' conceptions was reduced by adjusting for a parenting behaviour measure. Students from lone parent families or having mothers who were teenagers when they were born are more likely to report early sexual debut and conceptions by age 15/16, but this is not generally explained by parenting style.

  10. Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran

    Directory of Open Access Journals (Sweden)

    F. E. Mahjoub

    2016-01-01

    Full Text Available Introduction. Intractable diarrhea of infancy (IDI includes several types of early onset diarrhea; one of the rare etiologies is trichohepatoenteric (THE syndrome, also known as syndromic diarrhea (SD which was primarily described by Stankler et al. Hereby we report a family with several affected members which to our knowledge is the first case report from Iran. Report of Cases. A three-year-old boy referred with short stature, poor weight gain, and intermittent steatotic diarrhea to our center. He was born to healthy, relative parents (cousins. He did not gain any weight after four months of age and began having intermittent steatotic diarrhea, abdominal distension, and fever. He was hospitalized several times. Two other children in the family also showed somewhat similar symptoms. Two sweat tests were negative for cystic fibrosis. Workup for Celiac disease was performed several times which was negative; however, gluten-free diet was tried several times which was not effective. Workup for Hirschsprung’s disease was performed but colon was ganglionic. Evidence of liver involvement was approved by elevated liver enzymes and coarse echo of liver on sonography. Discussion. Trichoenterohepatic syndrome should be put in mind in cases of intractable diarrhea presenting in a family with several affected members. Early diagnosis would save patients from unnecessary workups.

  11. Familial Mediterranean Fever: Review of Literature and Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Shama Khan

    2017-12-01

    Full Text Available Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the quality of life may be affected in such patients. Therefore, physicians should not delay the evaluation in such cases and promptly initiate treatment to not only improve quality of life but to also avoid complications, such as amyloidosis. This study reports two different cases of familial Mediterranean fever, with varying clinical presentations, and established diagnosis via genetic testing as well as cessation of symptoms with a trial of therapy. Furthermore, this study discusses the various manifestations of familial Mediterranean fever, laboratory findings, and current therapies available for management.

  12. 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,...

  13. Cleidocranial dysostosis: a report on two familial cases

    Directory of Open Access Journals (Sweden)

    Carlos Guilherme Gaelzer Porciuncula

    2013-12-01

    Full Text Available Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

  14. The influence of family accommodation on pediatric hospital experience in Canada.

    Science.gov (United States)

    Franck, Linda S; Ferguson, Deron; Fryda, Sarah; Rubin, Nicole

    2017-08-15

    The goals of our study were to describe the types of family accommodation for parents of hospitalized children and to examine their influence on the pediatric hospital experience. This multi-site cohort survey included 10 hospitals in Ontario Province, Canada. Participants were parents of inpatient children (n = 1240). Main outcome measures included ratings of three parent-reported measures of hospital experience: overall hospital experience; willingness to recommend the hospital to family or friends; and how much the accommodation type helped parent stay involved in their child's hospital care. Parents most often stayed in the child's room (74.7%), their own home (12.3%), hotel (4.0%) or a Ronald McDonald House (3.0%). Accommodation varied based on hospital, parent and child factors. Length of stay and the child's health status were significant predictors for overall hospital experience and recommending the hospital to family or friends, but accommodation type was not. Families who stayed at a Ronald McDonald House reported greater involvement in their child's care compared with other accommodation types (odds ratio: 1.54-20.73 for contrasted accommodation types). Use of different overnight accommodations for families of hospitalized pediatric patients in Canada is similar to a previous report of U.S. family hospital accommodations. In contrast to the previous U.S. findings, Canadian hospital experience scores were lower and accommodation type was not a significant predictor of overall hospital experience or willingness to recommend the hospital. In Canada, as in the U.S., families who stayed at a Ronald McDonald House reported that this accommodation type significantly improved their ability to be involved in their child's care.

  15. Familial short fifth metacarpals and insulin resistance

    International Nuclear Information System (INIS)

    Hyari, Muwafag; Hamamy, Hanan; Barham, Muries; Ajlouni, Kamel; Al-Hadidy, Azmy

    2006-01-01

    Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity. (orig.)

  16. A Questionnaire Study on the Attitudes and Previous Experience of Croatian Family Physicians toward their Preparedness for Disaster Management.

    Science.gov (United States)

    Pekez-Pavliško, Tanja; Račić, Maja; Jurišić, Dinka

    2018-04-01

    To explore family physicians' attitudes, previous experience and self-assessed preparedness to respond or to assist in mass casualty incidents in Croatia. The cross-sectional survey was carried out during January 2017. Study participants were recruited through a Facebook group that brings together family physicians from Croatia. They were asked to complete the questionnaire, which was distributed via google.docs. Knowledge and attitudes toward disaster preparedness were evaluated by 18 questions. Analysis of variance, Student t test and Kruskal-Wallis test t were used for statistical analysis. Risk awareness of disasters was high among respondents (M = 4.89, SD=0.450). Only 16.4 of respondents have participated in the management of disaster at the scene. The majority (73.8%) of physicians have not been participating in any educational activity dealing with disaster over the past two years. Family physicians believed they are not well prepared to participate in national (M = 3.02, SD=0.856) and local community emergency response system for disaster (M = 3.16, SD=1.119). Male physicians scored higher preparedness to participate in national emergency response system for disaster ( p =0.012), to carry out accepted triage principles used in the disaster situation ( p =0.003) and recognize differences in health assessments indicating potential exposure to specific agents ( p =0,001) compared to their female colleagues. Croatian primary healthcare system attracts many young physicians, who can be an important part of disaster and emergency management. However, the lack of experience despite a high motivation indicates a need for inclusion of disaster medicine training during undergraduate studies and annual educational activities.

  17. Familial atrophia maculosa varioliformis cutis: case report and pedigree analysis.

    Science.gov (United States)

    Qu, T; Wang, B; Fang, K

    2005-10-01

    Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data of the pedigree and presumed that AVMV is in a autosomal dominant inheritance.

  18. The Self-Report Family Inventory: An Exploratory Factor Analysis

    Science.gov (United States)

    Goodrich, Kristopher M.; Selig, James P.; Trahan, Don P., Jr.

    2012-01-01

    Researchers explored the factor structure of the Self-Report Family Inventory with a sample of heterosexual parents who have a son or daughter who self-identifies as lesbian, gay, or bisexual. Results suggest that a two-factor solution is appropriate. Research and clinical implications are offered. (Contains 1 figure and 2 tables.)

  19. Munchausen Syndrome by Proxy: A Family Affair.

    Science.gov (United States)

    Mehl, Albert L.; And Others

    1990-01-01

    The article reports on a case of Munchausen syndrome by proxy in which chronic illicit insulin was administered to a one-year-old child by her mother. Factitious illnesses continued despite psychiatric intervention. Retrospective review of medical records suggested 30 previous episodes of factitious illness within the family. (DB)

  20. Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.

    Science.gov (United States)

    Fusco, Carlo; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Pavlidis, Elena; Frattini, Daniele; Pisani, Francesco

    2017-10-27

    Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. We report on a familial case harbouring a new point mutation in the PMP22 gene. The proband is a 4-years-old girl with acute onset of focal numbness and weakness in her right hand. Electroneurography demonstrated transient sensory and motor radial nerves involvement. In her father, reporting chronic symptoms (cramps and exercise-induced myalgia), we uncovered mild atrophy and areflexia on clinical examination and a mixed (predominantly demyelinating) polyneuropathy with sensory-motor involvement on electrophysiological study. Both carried a nucleotidic substitution c.178 + 2 T > C on intron 3 of the PMP22 gene, involving the splicing donor site, not reported on databases but predicted to be likely pathogenic. We described a previously unreported point mutation in PMP22 gene, which led to the development of a HNPP phenotype in a child and her father. In children evaluated for a sensory and motor transient episode, HNPP disorder due to PMP22 mutations should be suspected. Clinical and electrophysiological studies should be extended to all family members even in the absence of previous episodes suggestive for HNPP.

  1. Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

    Directory of Open Access Journals (Sweden)

    Ranji Chibbar

    2010-01-01

    Full Text Available A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years. The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATP-binding cassette protein A3 and telomerase, and found no abnormalities.

  2. High accuracy of family history of melanoma in Danish melanoma cases.

    Science.gov (United States)

    Wadt, Karin A W; Drzewiecki, Krzysztof T; Gerdes, Anne-Marie

    2015-12-01

    The incidence of melanoma in Denmark has immensely increased over the last 10 years making Denmark a high risk country for melanoma. In the last two decades multiple public campaigns have sought to increase the awareness of melanoma. Family history of melanoma is a known major risk factor but previous studies have shown that self-reported family history of melanoma is highly inaccurate. These studies are 15 years old and we wanted to examine if a higher awareness of melanoma has increased the accuracy of self-reported family history of melanoma. We examined the family history of 181 melanoma probands who reported 199 cases of melanoma in relatives, of which 135 cases where in first degree relatives. We confirmed the diagnosis of melanoma in 77% of all relatives, and in 83% of first degree relatives. In 181 probands we validated the negative family history of melanoma in 748 first degree relatives and found only 1 case of melanoma which was not reported in a 3 case melanoma family. Melanoma patients in Denmark report family history of melanoma in first and second degree relatives with a high level of accuracy with a true positive predictive value between 77 and 87%. In 99% of probands reporting a negative family history of melanoma in first degree relatives this information is correct. In clinical practice we recommend that melanoma diagnosis in relatives should be verified if possible, but even unverified reported melanoma cases in relatives should be included in the indication of genetic testing and assessment of melanoma risk in the family.

  3. The Affordable Care Act, Insurance Coverage, and Health Care Utilization of Previously Incarcerated Young Men: 2008-2015.

    Science.gov (United States)

    Winkelman, Tyler N A; Choi, HwaJung; Davis, Matthew M

    2017-05-01

    To estimate health insurance and health care utilization patterns among previously incarcerated men following implementation of the Affordable Care Act's (ACA's) Medicaid expansion and Marketplace plans in 2014. We performed serial cross-sectional analyses using data from the National Survey of Family Growth between 2008 and 2015. Our sample included men aged 18 to 44 years with (n = 3476) and without (n = 8702) a history of incarceration. Uninsurance declined significantly among previously incarcerated men after ACA implementation (-5.9 percentage points; 95% confidence interval [CI] = -11.5, -0.4), primarily because of an increase in private insurance (6.8 percentage points; 95% CI = 0.1, 13.3). Previously incarcerated men accounted for a large proportion of the remaining uninsured (38.6%) in 2014 to 2015. Following ACA implementation, previously incarcerated men continued to be significantly less likely to report a regular source of primary care and more likely to report emergency department use than were never-incarcerated peers. Health insurance coverage improved among previously incarcerated men following ACA implementation. However, these men account for a substantial proportion of the remaining uninsured. Previously incarcerated men continue to lack primary care and frequently utilize acute care services.

  4. Family interactions in adoptive compared to nonadoptive families.

    Science.gov (United States)

    Rueter, Martha A; Keyes, Margaret A; Iacono, William G; McGue, Matt

    2009-02-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents' increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. Copyright 2009 APA, all rights reserved.

  5. Examining the relationship between family meal frequency and individual dietary intake: does family cohesion play a role?

    Science.gov (United States)

    Welsh, Ericka M; French, Simone A; Wall, Melanie

    2011-01-01

    To confirm previously reported associations between family meal frequency and dietary intake, and to examine family cohesion as a potential mediator of this relationship. Cross-sectional observational study. Data collected at baseline via questionnaire. Randomized, controlled household weight gain prevention trial. Participants were 152 adults and 75 adolescents from 90 community households. Family meal frequency assessed with a single question. Perceived family cohesion measured by the Family Adaptability and Cohesion Evaluation Scale-III. Usual intake of targeted food items assessed with modified food frequency questionnaire. Hierarchical linear regression with mediation analysis. Statistical significance set at α-level .05. Family meal frequency was associated with intake of fruits and vegetables in adults, and sweets and sugar-sweetened beverages in adolescents. Family meal frequency was positively correlated with perceived family cohesion (r = 0.41, P family cohesion was observed for family meal frequency and sweets intake in adolescents. Results suggest that family cohesion is not a consistent mediator of relationship between family meal frequency and individual dietary intake. Future studies should assess additional plausible mediators of this relationship in order to better understand the effect of family meals on dietary intake. Copyright © 2011 Society for Nutrition Education. Published by Elsevier Inc. All rights reserved.

  6. Working to End Family Homelessness. Annual Report

    Science.gov (United States)

    National Center on Family Homelessness (NJ1), 2012

    2012-01-01

    The National Center on Family Homelessness is determined to end family homelessness. Sheltering families provides a temporary safe haven. Connecting families to permanent housing, essential services, and critical supports can change their lives forever. Through research the Center learns what families need to rebound from the housing, economic,…

  7. Adolescent muscle dysmorphia and family-based treatment: a case report.

    Science.gov (United States)

    Murray, Stuart B; Griffiths, Scott

    2015-04-01

    A growing body of evidence suggests that the prevalence of male body dissatisfaction and muscle dysmorphia is rising. To date, however, there is no published evidence on the efficacy of treatments for muscle dysmorphia. We present the case of a 15-year-old boy who met full diagnostic criteria for muscle dysmorphia, whose symptoms were treated into remission with eating disorder-focused, family-based treatment. The age of this patient fell within the time period in which symptoms of muscle dysmorphia are most likely to develop and this case represents the first published case report of family-based treatment for muscle dysmorphia in this age group. Thus, this case report has important implications for clinicians considering treatment options for presentations of muscle dysmorphia when first presenting in adolescence. Implications for the development of treatment guidelines for muscle dysmorphia and for the diagnostic debate surrounding muscle dysmorphia are also discussed. © The Author(s) 2014.

  8. Stickler syndrome: an underdiagnosed disease. Report of a family.

    Science.gov (United States)

    De Keyzer, T H W; De Veuster, I; Smets, R-M E

    2011-01-01

    To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. Case report. A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration, cataract and glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with retinal tears and retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD, vitrectomy is the preferred surgery. Prophylaxis of RRD in Stickler syndrome patients consisting of a 360 degrees peripheral cryotherapy or photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated. Stickler syndrome remains under-diagnosed. Hightened awareness of Stickler syndrome could improve visual outcome in affected individuals and makes genetic counseling possible

  9. National Convention on Family Life Education.

    Science.gov (United States)

    1973-12-01

    This secretarial report gives brief comments on some discussion of topics at the National Convention on Family Life Education. Discussion included: 1) legalized prostitution as a means to reduce venereal disease; 2) family life education promotion by government and civic groups; 3) more authority for the Population Council; 4) more liberal abortion legislation than previously; 5) statutory notification of veneral disease by medical practitioners; 6) compensatory measures for working women with young children, and 7) the need for modernization of legislation pertaining to child health, adoption, paternity, the Persons Act, infant life preservation, drugs, age of consent, and the age of minority.

  10. Norrie's disease in an Asian family.

    OpenAIRE

    Harendra de Silva, D G; de Silva, D B

    1988-01-01

    Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.

  11. Influences on clinical reasoning in family and psychosocial interventions in nursing practice with patients and their families living with chronic kidney disease.

    Science.gov (United States)

    Thirsk, Lorraine M; Moore, Sarah G; Keyko, Kacey

    2014-09-01

    To explore how Registered Nurses address psychosocial issues for patients and their families living with chronic kidney disease. It is in the scope of registered nursing practice to address the emotional, psychological and relational implications of living with chronic disease through psychosocial and family interventions. Patients living with chronic kidney disease frequently report poor quality of life and numerous psychosocial issues; however, they do not find that these issues are always adequately addressed. This research was hermeneutic inquiry as guided by Gadamer's philosophy of understanding. Family/psychosocial nursing practices are examined from the perspective of self-reports of Registered Nurses working in acute care nephrology units. Interviews with nurses were conducted throughout 2012. Nurses attribute, or explain, patient and family member behaviour in a variety of ways. These explanations may or may not align with actual patient/family reasons for behaviour. Nurses' explanations influence subsequent nursing practice. While there is some evidence of practices that overcome biased attributions of patient behaviour, the cognitive processes by which nurses develop these explanations are more complex than previously reported in nursing literature. Clinical reasoning and subsequent nursing practice are influenced by how nurses explain patients'/families' behaviour. Exploration of this issue with the support of social cognition literature suggests a need for further research with significant implications for nursing education and practice to improve family/psychosocial interventions. © 2014 John Wiley & Sons Ltd.

  12. Family conflict and depression in HIV-negative heterosexuals: the role of methamphetamine use.

    Science.gov (United States)

    Semple, Shirley J; Strathdee, Steffanie A; Zians, Jim; Patterson, Thomas L

    2009-06-01

    Previous research has reported elevated levels of depressive symptoms among methamphetamine users, but little attention has been paid to possible links between family environment and psychological distress. This study examined relationships between family conflict, substance use, and depressive symptoms in a sample of 104 heterosexual methamphetamine users in San Diego, California. Eighty-nine percent of the sample reported conflict with a family member in the past year. Conflict was reported most often with parents and siblings. Sources of conflict included drug use, lifestyle issues, interpersonal and communication issues, and concern for other family members. In regression analyses, being female, being a polydrug user, and facing social and legal stressors were associated with higher levels of family conflict. Multiple regression analyses also revealed a positive association between family conflict and depressive symptoms. Contrary to expectation, methamphetamine dose did not moderate the relationship between family conflict and depressive symptoms. Reducing family conflict may be an important first step toward ameliorating depressive symptoms and creating more supportive environments for methamphetamine users who are in urgent need of effective interventions. Copyright (c) 2009 APA, all rights reserved.

  13. Effects of Family Violence on Psychopathology Symptoms in Children Previously Exposed to Maltreatment

    Science.gov (United States)

    Maikovich, Andrea Kohn; Jaffee, Sara R.; Odgers, Candice L.; Gallop, Robert

    2008-01-01

    Although many studies suggest that family violence is associated with child psychopathology, multiple features of the home environment might account for this association, such as poverty and caregiver psychopathology. Studies are needed examining how change in psychopathology symptoms is affected by home violence, controlling for children's own…

  14. Level validity of self-report whole-family measures.

    Science.gov (United States)

    Manders, Willeke A; Cook, William L; Oud, Johan H L; Scholte, Ron H J; Janssens, Jan M A M; De Bruyn, Eric E J

    2007-12-01

    This article introduces an approach to testing the level validity of family assessment instruments (i.e., whether a family instrument measures family functioning at the level of the system it purports to assess). Two parents and 2 adolescents in 69 families rated the warmth in each of their family relationships and in the family as a whole. Family members' ratings of whole-family warmth assessed family functioning not only at the family level (i.e., characteristics of the family as a whole) but also at the individual level of analysis (i.e., characteristics of family members as raters), indicating a lack of level validity. Evidence was provided for the level validity of a latent variable based on family members' ratings of whole-family warmth. The findings underscore the importance of assessing the level validity of individual ratings of whole-family functioning.

  15. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

    Science.gov (United States)

    McMahon, Kelly Q; Papandreou, Apostolos; Ma, Mandy; Barry, Brenda J; Mirzaa, Ghayda M; Dobyns, William B; Scott, Richard H; Trump, Natalie; Kurian, Manju A; Paciorkowski, Alex R

    2015-12-01

    FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations in FOXG1-related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with mutations in FOXG1 (c.515_577del63, c.460dupG, and c.572T > G), representing familial recurrence of the disorder. In one family, we have documented maternal somatic mosaicism for the FOXG1 mutation, and all of the families presumably represent parental gonadal (or germline) mosaicism. To our knowledge, mosaicism has not been previously reported in FOXG1-related disorders. Therefore, this report provides evidence that germline mosaicism for FOXG1 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with FOXG1-related disorders. © 2015 Wiley Periodicals, Inc.

  16. Primary familial hypercholesterolaemia in a South African black. A case report

    NARCIS (Netherlands)

    van Wingerden, J. J.

    1981-01-01

    A case of familial hypercholesterolaemia is presented. This is to the best of our knowledge the first report of such a case in a South African black. The modes of presentation and inheritance are discussed and the relevant literature is reviewed

  17. Eikenella corrodens endocarditis and liver abscess in a previously healthy male, a case report

    DEFF Research Database (Denmark)

    Nordholm, Anne Christine; Vøgg, Ruth Ottilia Birgitta; Permin, Henrik

    2018-01-01

    BACKGROUND: Eikenella corrodens is one of the HACEK bacteria constituting part of the normal flora of the oropharynx, however, still an uncommon pathogen. We report a case of a large Eikenella corrodens liver abscess with simultaneously endocarditis in a previously healthy male. CASE PRESENTATION...... on pneumonia treatment, a PET-CT scan was performed, which showed a large multiloculated abscess in the liver. The abscess was drained using ultrasound guidance. Culture demonstrated Eikenella corrodens. Transesophageal echocardiography revealed aortic endocarditis. The patient was treated with antibiotics...... corrodens concurrent liver abscess and endocarditis. The case report highlights that Eikenella corrodens should be considered as a cause of liver abscess. Empirical treatment of pyogenic liver abscess will most often cover Eikenella corrodens, but the recommended treatment is a third generation...

  18. Family Meals and Adolescent Emotional Well-Being: Findings From a National Study.

    Science.gov (United States)

    Utter, Jennifer; Denny, Simon; Peiris-John, Roshini; Moselen, Emma; Dyson, Ben; Clark, Terryann

    2017-01-01

    To describe the relationship between family meals and adolescent mental health and determine whether the relationship differs by sex. Secondary analyses of a cross-sectional survey. A total of 8,500 nationally representative students. Reynolds Adolescent Depression Scale; Strengths and Difficulties Questionnaire; World Health Organization Well-being Index. Multiple regression models determined the relationships between family meals and mental health indicators; sociodemographic variables and family connection were included as covariates. Approximately 60% of adolescents shared family meals ≥5 times in the previous week, whereas 22% reported that they shared ≤2 meals in the previous week. Greater frequency of family meals was associated with fewer depressive symptoms (P well-being (family meals and depressive symptoms were attenuated by sex; the relationship was stronger for females than for males. Frequent family meals may have a protective effect on the mental health of adolescents, particularly for depressive symptoms in girls. Interventions that aim to increase the frequency of family meals are needed to evaluate whether family meals alone can have an emotional benefit for adolescents. Copyright © 2016 Society for Nutrition Education and Behavior. Published by Elsevier Inc. All rights reserved.

  19. Maryland Family Support Services Consortium. Final Report.

    Science.gov (United States)

    Gardner, James F.; Markowitz, Ricka Keeney

    The Maryland Family Support Services Consortium is a 3-year demonstration project which developed unique family support models at five sites serving the needs of families with a developmentally disabled child (ages birth to 21). Caseworkers provided direct intensive services to 224 families over the 3-year period, including counseling, liaison and…

  20. Familial Pallister-Hall in adulthood.

    Science.gov (United States)

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

    2017-10-01

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

  1. Methylenetetrahydrofolate Reductase Polymorphisms at Familial Bladder Cancer: Case Report

    Directory of Open Access Journals (Sweden)

    Gulay Ceylan

    2016-02-01

    Full Text Available Bladder cancer is the seventh most common cancer in men in the world, it is the second most seen cancer after lung cancer and the first in urogenital tumours in Turkey. Many molecular epidemiologic studies have been reported to investigate the associations between the MTHFR C677T and A1298C polymorphisms and bladder cancer risk. In this report, a family with transitional bladder cancer have also MTHFR A1298C heterozygosity which supports the association between MTHFR variants and bladder cancer. This %uFB01nding should be further validated by prospective and larger studies with more diverse ethnic groups.

  2. Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

    Science.gov (United States)

    Abdalla, E M; Morsy, H

    2011-01-01

    Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

  3. Erysipelothrix endocarditis with previous cutaneous lesion: report of a case and review of the literature

    Directory of Open Access Journals (Sweden)

    Marion P. Rocha

    1989-08-01

    Full Text Available This report describes the first documented case of Erysipelothrix rhusiopathiae endocarditis in Latin America. The patient was a 51-years-old male, moderate alcoholic, with a previous history of aortic failure. He was used to fishing and cooking as a hobby and had his left hand wounded by a fish-bone. The disease began with erysipeloid form and developed to septicemia and endocarditis. He was treated with antibiotics and surgery for aortic valve replacement. There are only 46 cases of E. rhusiopathiae endocarditis reported to date. The authors wonder if several other cases might go unreported for lack of microbiological laboratorial diagnosis.

  4. Effects of Occupational Shift on Family Life Style. Final Report.

    Science.gov (United States)

    Garrett, Aline M.

    The report describes a research project which investigated the impact of change on new employees, their families, and the community when a new type of industry locates in a small semi-rural Louisiana community. The subjects of the research were 218 women (144 black and 74 white) employed in the new clothing manufacturing industry and in three…

  5. Mothers' Self-Reported Emotional Expression in Mainland Chinese, Chinese American and European American Families

    Science.gov (United States)

    Camras, Linda; Kolmodin, Karen; Chen, Yinghe

    2008-01-01

    This study compared Mainland Chinese, Chinese American and European American mothers' self-reported emotional expression within the family. Mothers of 3-year-old European American (n = 40), Chinese American (n = 39) and Mainland Chinese (n = 36) children (n = 20 girls per group) completed the Self-Expressiveness in the Family Questionnaire (SEFQ),…

  6. Family-based clusters of cognitive test performance in familial schizophrenia

    Directory of Open Access Journals (Sweden)

    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.

  7. Fragile X Syndrome in a Colombian Family

    Directory of Open Access Journals (Sweden)

    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.

  8. Family functioning and suicidal ideation/behaviour in adolescents: a ...

    African Journals Online (AJOL)

    Results: The results of t-test and chi-square analyses indicated that adolescents who reported suicidal ideation or behaviour in the previous year experienced lower levels of connection and regulation and higher levels of conflict and psychological control in the parent-child relationship than non-suicidal adolescents. Family ...

  9. Work-family conflicts and self-reported work ability: cross-sectional findings in women with chronic musculoskeletal disorders.

    Science.gov (United States)

    Bethge, Matthias; Borngräber, Yvonne

    2015-03-18

    Under conditions of gender-specific division of paid employment and unpaid childcare and housework, rising employment of women increases the likelihood that they will be faced with work-family conflicts. As recent research indicates, such conflicts might also contribute to musculoskeletal disorders. However, research in patient samples is needed to clarify how important these conflicts are for relevant health-related measures of functioning (e.g., work ability). We therefore examined, in a sample of women with chronic musculoskeletal disorders, the indirect and direct associations between the indicators of work-family conflicts and self-reported work ability as well as whether the direct effects remained significant after adjustment for covariates. A cross-sectional questionnaire-based study was conducted. Participants were recruited from five rehabilitation centers. Work-family conflicts were assessed by four scales referring to time- and strain-based work interference with family (WIF) and family interference with work (FIW). Self-reported work ability was measured by the Work Ability Index. A confirmatory factor analysis was performed to approve the anticipated four-factor structure of the work-family conflict measure. Direct and indirect associations between work-family conflict indicators and self-reported work ability were examined by path model analysis. Multivariate regression models were performed to calculate adjusted estimators of the direct effects of strain-based WIF and FIW on work ability. The study included 351 employed women. The confirmatory factor analysis provided support for the anticipated four-factor structure of the work-family conflict measure. The path model analysis identified direct effects of both strain-based scales on self-reported work ability. The time-based scales were indirectly associated with work ability via the strain-based scales. Adjusted regression analyses showed that a five-point increase in strain-based WIF or FIW was

  10. Parental incarceration and multiple risk experiences: effects on family dynamics and children's delinquency.

    Science.gov (United States)

    Aaron, Lauren; Dallaire, Danielle H

    2010-12-01

    Children of incarcerated parents are exposed to factors that place them at risk for delinquency. Few studies have examined the effects of having an incarcerated parent after controlling for other experiences such as contextual risk factors and family processes. Past studies have also not examined effects of recent, but not current, parental incarceration on children. The present study examines an archival dataset, in which children aged 10-14 years and their parents/guardians reported children's risk experiences (e.g., exposure to poverty, parental substance use), family processes (e.g., level of family victimization, family conflict), and children's delinquent behaviors at two time points. Parents also reported their recent and past incarceration history. Hierarchical linear regression analyses show that a history of parental incarceration predicted family victimization, delinquent behaviors of children's older siblings, and delinquent behaviors of the child participants, over and above children's demographic characteristics and other risk experiences. Recent parental incarceration predicted family conflict, family victimization, and parent-reports of children's delinquency after also controlling for previous parental incarceration. The role of family processes in research and intervention directions involving children of incarcerated parents is discussed.

  11. Adolescent fertility and family planning in East Asia and the Pacific: a review of DHS reports

    Directory of Open Access Journals (Sweden)

    Gray Natalie

    2011-05-01

    Full Text Available Abstract Background Adolescent pregnancy has significant health and socio-economic consequences for women, their families and communities. Efforts to prevent too-early pregnancy rely on accurate information about adolescents' knowledge, behaviours and access to family planning, however available data are limited in some settings. Demographic and Health Survey (DHS reports are recognised as providing nationally representative data that are accessible to policymakers and programmers. This paper reviews DHS reports for low and lower middle income countries in East Asia and the Pacific to determine what information regarding adolescent fertility and family planning is available, and summarises key findings. Methods The most recent DHS reports were sought for the 33 low and lower middle income countries in the East Asia and Pacific region as defined by UNICEF and World Bank. Age-disaggregated data for all indicators relevant to fertility and current use, knowledge and access to family planning information and services were sought to identify accessible information. Reported data were analysed using an Excel database to determine outcomes for adolescents and compare with adult women. Results DHS reports were available for eleven countries: Cambodia, Indonesia, Marshall Islands, Nauru, Papua New Guinea, Philippines, Samoa, Solomon Islands, Timor-Leste, Tuvalu and Vietnam. Twenty seven of 40 relevant DHS indicators reported outcomes for adolescent women aged 15-19 years. There were limited data for unmarried adolescents. A significant proportion of women commence sexual activity and childbearing during adolescence in the context of low contraceptive prevalence and high unmet need for contraception. Adolescent women have lower use of contraception, poorer knowledge of family planning and less access to information and services than adult women. Conclusion DHS reports provide useful and accessible data, however, they are limited by the failure to report

  12. Integrating the older/special needs adoptive child into the family.

    Science.gov (United States)

    Clark, Pamela; Thigpen, Sally; Yates, Amy Moeller

    2006-04-01

    This qualitative, grounded theory study investigated 11 families who reported having successfully integrated into their family unit at least one older/special needs adoptee. The theory that emerged through the constant comparative methodology consisted of two categories (Decision to Adopt and Adjustment) and a core category (Developing a Sense of Family). The two categories and core category comprised a process that was informed by the Family Narrative Paradigm and culminated in the successful integration of the child or children into the existing family unit. Parental perceptions that appeared to facilitate this process included: (a) finding strengths in the children overlooked by previous caregivers, (b) viewing behavior in context, (c) reframing negative behavior, and (d) attributing improvement in behavior to parenting efforts.

  13. CDKN2A-mutation hos en familie med arveligt malignt melanom

    DEFF Research Database (Denmark)

    Djursby, Malene; Wadt, Karin; Lorentzen, Henrik

    2014-01-01

    Malignant melanoma (MM) is a frequent form of cancer with increasing incidence. 6-10% of patients with MM report a family history of MM, and in most populations 2% of unselected cases of MM carry a CDKN2A mutation. tvWe present a family with 24 cases of MM in nine persons from several generations......, caused by a previously undescribed germ-line intronic mutation in CDKN2A. Through genetic counselling and genetic testing high-risk persons in the family are located and offered regular screening for MM....

  14. Lumbar spondylolysis: A report of four cases from two generations of a family

    OpenAIRE

    Yurube, Takashi; Kakutani, Kenichiro; Okamoto, Koji; Manabe, Michihiko; Maeno, Koichiro; Yoshikawa, Masaho; Sha, Norihide; Kuroda, Ryosuke; Nishida, Kotaro

    2017-01-01

    Spondylolysis is a major cause of back pain in children and adolescents. The prevalence of spondylolysis depends on the sex, race, and congenital abnormality. These biases suggest hereditary predisposition as an etiology of spondylolysis. However, no conclusive evidence still exists regarding the inheritance for spondylolysis. Herein, we report rare cases with familial occurrence of lumbar spondylolysis. In two generations of a Japanese family, three brothers including identical twins complai...

  15. Report on financing the new model of family medicine.

    Science.gov (United States)

    Spann, Stephen J

    2004-12-02

    To foster redesigning the work and workplaces of family physicians, this Future of Family Medicine task force was created to formulate and recommend a financial model that sustains and promotes a thriving New Model of care by focusing on practice reimbursement and health care finances. The goals of the task force were to develop a financial model that assesses the impact of the New Model on practice finances, and to recommend health care financial policies that, if implemented, would be expected to promote the New Model and the primary medical care function in the United States for the next few decades. The members of the task force reflected a wide range of professional backgrounds and expertise. The group met in person on 2 occasions and communicated by e-mail and conference calls to achieve consensus. A marketing study was carried out using focus groups to test the concept of the New Model with consumers. External consultants with expertise in health economics, health care finance, health policy, and practice management were engaged to assist the task force with developing the microeconomic (practice level) and macroeconomic (societal level) financial models necessary to achieve its goals. Model assumptions were derived from the published medical literature, existing practice management databases, and discussions with experienced physicians and other content experts. The results of the financial modeling exercise are included in this report. The initial draft report of the findings and recommendations was shared with a reactor panel representing a broad spectrum of constituencies. Feedback from these individuals was reviewed and incorporated, as appropriate, into the final report. The practice-level financial model suggests that full implementation of the New Model of care within the current fee-for-service system of reimbursement would result in a 26% increase in compensation (from 167,457 dollars to 210,288 dollars total annual compensation) for prototypical

  16. Report on Financing the New Model of Family Medicine

    Science.gov (United States)

    Spann, Stephen J.

    2004-01-01

    PURPOSE To foster redesigning the work and workplaces of family physicians, this Future of Family Medicine task force was created to formulate and recommend a financial model that sustains and promotes a thriving New Model of care by focusing on practice reimbursement and health care finances. The goals of the task force were to develop a financial model that assesses the impact of the New Model on practice finances, and to recommend health care financial policies that, if implemented, would be expected to promote the New Model and the primary medical care function in the United States for the next few decades. METHODS The members of the task force reflected a wide range of professional backgrounds and expertise. The group met in person on 2 occasions and communicated by e-mail and conference calls to achieve consensus. A marketing study was carried out using focus groups to test the concept of the New Model with consumers. External consultants with expertise in health economics, health care finance, health policy, and practice management were engaged to assist the task force with developing the microeconomic (practice level) and macroeconomic (societal level) financial models necessary to achieve its goals. Model assumptions were derived from the published medical literature, existing practice management databases, and discussions with experienced physicians and other content experts. The results of the financial modeling exercise are included in this report. The initial draft report of the findings and recommendations was shared with a reactor panel representing a broad spectrum of constituencies. Feedback from these individuals was reviewed and incorporated, as appropriate, into the final report. RESULTS The practice-level financial model suggests that full implementation of the New Model of care within the current fee-for-service system of reimbursement would result in a 26% increase in compensation (from $167,457 to $210,288 total annual compensation) for

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

    Science.gov (United States)

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

    2018-02-01

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

  18. Case report of the family transmission of Streptococcus pyogenes orbital cellulitis

    Directory of Open Access Journals (Sweden)

    Christelle Doyon, MD

    2017-06-01

    Conclusions and importance: To our knowledge, this is the first case ever reported of family transmission of orbital cellulitis. This highlights the importance of early diagnosis and treatment of S pyogenes, and the role of throat cultures as means of diagnosis even in the absence of symptoms or signs of pharyngitis.

  19. Does parental divorce moderate the heritability of body dissatisfaction? An extension of previous gene-environment interaction effects.

    Science.gov (United States)

    O'Connor, Shannon M; Klump, Kelly L; VanHuysse, Jessica L; McGue, Matt; Iacono, William

    2016-02-01

    Previous research suggests that parental divorce moderates genetic influences on body dissatisfaction. Specifically, the heritability of body dissatisfaction is higher in children of divorced versus intact families, suggesting possible gene-environment interaction effects. However, prior research is limited to a single, self-reported measure of body dissatisfaction. The primary aim of this study was to examine whether these findings extend to a different dimension of body dissatisfaction: body image perceptions. Participants were 1,534 female twins from the Minnesota Twin Family Study, aged 16-20 years. The Body Rating Scale (BRS) was used to assess body image perceptions. Although BRS scores were heritable in twins from divorced and intact families, the heritability estimates in the divorced group were not significantly greater than estimates in the intact group. However, there were differences in nonshared environmental effects, where the magnitude of these environmental influences was larger in the divorced as compared with the intact families. Different dimensions of body dissatisfaction (i.e., negative self-evaluation versus body image perceptions) may interact with environmental risk, such as parental divorce, in discrete ways. Future research should examine this possibility and explore differential gene-environment interactions using diverse measures. © 2015 Wiley Periodicals, Inc.

  20. Eight previously unidentified mutations found in the OA1 ocular albinism gene

    Directory of Open Access Journals (Sweden)

    Dufier Jean-Louis

    2006-04-01

    Full Text Available Abstract Background Ocular albinism type 1 (OA1 is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

  1. Family dynamics and infant temperament in Danish families

    DEFF Research Database (Denmark)

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

    1994-01-01

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

  2. Family dynamics and infant temperament in Danish families

    DEFF Research Database (Denmark)

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

    1994-01-01

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

  3. Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent.

    Science.gov (United States)

    Frohlich, J; Godolphin, W J; Reeve, C E; Evelyn, K A

    1978-01-01

    A 16-year-old male (S.F.) and his 21-year-old sister (D.H.) from a large family of Italian and Swedish descent had virtually identical lipoprotein pattern and complete absence of LCAT activity. Both had typical corneal opacities and mild anemia with target cells. S.F., but not D.H., presented with proteinuria, which has increased over three years of follow-up. His kidney biopsy revealed lipid deposits in the glomerular basement membrane. Ten relatives in 4 generations had normal LCAT activity and/or lipoprotein pattern. The patients and their relatives had haptoglobin type 2. Factors that might influence the different clinical presentation in our patients (previous renal disease, diet, abnormal lipoproteins), prognosis, and treatment (diet, enzyme replacement, cholestyramine) are discussed.

  4. Coparenting around siblings' differential treatment in Mexican-origin families.

    Science.gov (United States)

    Solmeyer, Anna R; Killoren, Sarah E; McHale, Susan M; Updegraff, Kimberly A

    2011-04-01

    In this study we examined patterns of mothers' and fathers' differential affection and discipline toward 2 adolescent offspring in 243 Mexican-origin families. Grounding our work in a family systems perspective, we used interparental patterns of differential treatment as an index of the coparental alliance and tested their associations with parents' reports of familism values, traditional gender role attitudes, and cultural orientations. We also sought to replicate prior research on European American samples linking interparental patterns of differential treatment to marital qualities (coparenting satisfaction, love, and conflict) and adolescent depressive symptoms and risky behaviors. Three interparental patterns emerged: families in which both mothers and fathers treated their 2 offspring equally, incongruent families in which 1 parent treated both offspring equally while the other parent favored 1 offspring, and congruent families in which both parents favored the same offspring. Most parents reported equal treatment, but others fell into the incongruent affection (30%), incongruent discipline (45%), and congruent discipline (16%) groups. Mixed model analyses of variances revealed that in families in which mothers and fathers both treated their offspring equally, parents reported higher familism values, more traditional gender role attitudes, and relatively stronger orientations to Mexican than Anglo culture. Consistent with previous research, interparental incongruence was associated with less positive marital qualities and more adolescent adjustment problems. Discussion focuses on the role of culture in shaping coparenting and the processes through which these coparenting dynamics are linked to marital and youth adjustment.

  5. Manager support for work-family issues and its impact on employee-reported pain in the extended care setting.

    Science.gov (United States)

    O'Donnell, Emily M; Berkman, Lisa F; Subramanian, S V

    2012-09-01

    Supervisor-level policies and the presence of a manager engaged in an employee's need to achieve work-family balance, or "supervisory support," may benefit employee health, including self-reported pain. We conducted a census of employees at four selected extended care facilities in the Boston metropolitan region (n = 368). Supervisory support was assessed through interviews with managers and pain was reported by employees. Our multilevel logistic models indicate that employees with managers who report the lowest levels of support for work-family balance experience twice as much overall pain as employees with managers who report high levels of support. Low supervisory support for work-family balance is associated with an increased prevalence of employee-reported pain in extended care facilities. We recommend that manager-level policies and practices receive additional attention as a potential risk factor for poor health in this setting.

  6. Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation

    DEFF Research Database (Denmark)

    Westergaard-Nielsen, Marie; Amstrup, Tine; Wanscher, Jens Højberg

    2018-01-01

    bilateral conductive hearing loss. Three patients were treated with stapedectomy, on one or both ears, due to fixation of stapes. All the affected members had syndactyly and symphalangism. A not previously reported mutation in the NOG gene (c.688_699del, p.Cys230_Cys232delins11) was found to segregate...... with the stapes fixation, syndactyly, and symphalangism. p.Cys230_Cysdelins11 was classified as likely pathogenic according to guidelines from the American College of Medical Genetics and Genomics. Conclusion: The clinical presentation of the reported mutation corresponds with previous case reports of families...

  7. Validation of a model of family caregiver communication types and related caregiver outcomes.

    Science.gov (United States)

    Wittenberg, Elaine; Kravits, Kate; Goldsmith, Joy; Ferrell, Betty; Fujinami, Rebecca

    2017-02-01

    Caring for the family is included as one of the eight domains of quality palliative care, calling attention to the importance of the family system and family communications about cancer during care and treatment of the disease. Previously, a model of family caregiver communication defined four caregiver communication types-Manager, Carrier, Partner, Lone-each with a unique communication pattern. The purpose of the present study was to extend the model of family caregiver communication in cancer care to further understand the impact of family communication burden on caregiving outcomes. This mixed-method study employed fieldnotes from a family caregiver intervention focused on quality of life and self-reported caregiver communication items to identify a specific family caregiver type. Caregiver types were then analyzed using outcome measures on psychological distress, skills preparedness, family inventory of needs, and quality-of-life domains. Corroboration between fieldnotes and self-reported communication for caregivers (n = 21, 16 women, mean age of 53 years) revealed a definitive classification of the four caregiver types (Manager = 6, Carrier = 5, Partner = 6, Lone = 4). Mean scores on self-reported communication items documented different communication patterns congruent with the theoretical framework of the model. Variation in caregiver outcomes measures confirmed the model of family caregiver communication types. Partner and Lone caregivers reported the lowest psychological distress, with Carrier caregivers feeling least prepared and Manager caregivers reporting the lowest physical quality of life. This study illustrates the impact of family communication on caregiving and increases our knowledge and understanding about the role of communication in caregiver burden. The research provides the first evidence-based validation for a family caregiver communication typology and its relationship to caregiver outcomes. Future research is needed to develop and test

  8. Identification of a previously undescribed divergent virus from the Flaviviridae family in an outbreak of equine serum hepatitis.

    Science.gov (United States)

    Chandriani, Sanjay; Skewes-Cox, Peter; Zhong, Weidong; Ganem, Donald E; Divers, Thomas J; Van Blaricum, Anita J; Tennant, Bud C; Kistler, Amy L

    2013-04-09

    Theiler's disease is an acute hepatitis in horses that is associated with the administration of equine blood products; its etiologic agent has remained unknown for nearly a century. Here, we used massively parallel sequencing to explore samples from a recent Theiler's disease outbreak. Metatranscriptomic analysis of the short sequence reads identified a 10.5-kb sequence from a previously undescribed virus of the Flaviviridae family, which we designate "Theiler's disease-associated virus" (TDAV). Phylogenetic analysis clusters TDAV with GB viruses of the recently proposed Pegivirus genus, although it shares only 35.3% amino acid identity with its closest relative, GB virus D. An epidemiological survey of additional horses from three separate locations supports an association between TDAV infection and acute serum hepatitis. Experimental inoculation of horses with TDAV-positive plasma provides evidence that several weeks of viremia preceded liver injury and that liver disease may not be directly related to the level of viremia. Like hepatitis C virus, the best characterized Flaviviridae species known to cause hepatitis, we find TDAV is capable of efficient parenteral transmission, engendering acute and chronic infections associated with a diversity of clinical presentations ranging from subclinical infection to clinical hepatitis.

  9. Phylogenetic analysis of the expansion of the MATH-BTB gene family in the grasses.

    Science.gov (United States)

    Juranić, Martina; Dresselhaus, Thomas

    2014-01-01

    MATH-BTB proteins are known to act as substrate-specific adaptors of cullin3 (CUL3)-based ubiquitin E3 ligases to target protein for ubiquitination. In a previous study we reported the presence of 31 MATH-BTB genes in the maize genome and determined the regulatory role of the MATH-BTB protein MAB1 during meiosis to mitosis transition. In contrast to maize, there are only 6 homologous genes in the model plant Arabidopsis, while this family has largely expanded in grasses. Here, we report a phylogenetic analysis of the MATH-BTB gene family in 9 land plant species including various mosses, eudicots, and grasses. We extend a previous classification of the plant MATH-BTB family and additionally arrange the expanded group into 5 grass-specific clades. Synteny studies indicate that expansion occurred to a large extent due to local gene duplications. Expression studies of 3 closely related MATH-BTB genes in maize (MAB1-3) indicate highly specific expression pattern. In summary, this work provides a solid base for further studies comparing genetic and functional information of the MATH-BTB family especially in the grasses.

  10. The interpretability of family history reports of alcoholism in general community samples: Findings in a Midwestern US twin birth cohort

    Science.gov (United States)

    Waldron, Mary; Madden, Pamela A. F.; Nelson, Elliot C.; Knopik, Valerie S.; Glowinski, Anne L.; Grant, Julia D.; Lynskey, Michael T.; Jacob, Theodore; Sher, Kenneth J.; Bucholz, Kathleen K.; Heath, Andrew C.

    2011-01-01

    Background Although there is a long tradition in alcoholism research of using family history ratings, the interpretability of family history reports of alcoholism from general community samples has yet to be established. Methods Telephone interview data obtained from a large cohort of female like-sex twins (N = 3787, median age 22) and their biological parents (N = 2928, assessed at twins’ median age 15) were analyzed to determine agreement between parent self-report, parent ratings of coparent, and twin narrow (alcohol problems) versus broad (problem or excessive drinking) ratings of each parent. Results In European ancestry (EA) families, high tetrachoric correlations were observed between twin and cotwin ratings of parental alcohol problems, between twin and parent ratings of coparent alcohol problems using symptom-based and single-item assessments, as well as moderately high correlations between twin and both mother and father self-reports. In African American (AA) families, inter-rater agreement was substantially lower than for EA families, with no cases where father ratings of maternal alcohol problems agreed with either twin ratings or mother self-report; and both cotwin agreement and mother-twin agreement were reduced. Differences between EA and AA families were not explained by differences in years of cohabitation with father or mother’s education; however, underreporting of problems by AA parents may have contributed. Conclusions Results support the use of family history ratings of parental alcoholism in general community surveys for European ancestry families, but suggest that family history assessment in African American families requires improved methods. PMID:22235921

  11. High agreement on family affluence between children's and parents' reports: international study of 11-year-olds

    DEFF Research Database (Denmark)

    Andersen, Anette; Krølner, Rikke; Currie, Candace

    2008-01-01

    OBJECTIVE: To examine the agreement between parents' and children's reports on four items of family affluence: number of cars, own bedroom, number of family holidays, and number of computers, and to analyse predictors of disagreement. DESIGN: Cross sectional child-parent validation study of selec...

  12. Cultivating Resilience in Families Who Foster: Understanding How Families Cope and Adapt Over Time.

    Science.gov (United States)

    Lietz, Cynthia A; Julien-Chinn, Francie J; Geiger, Jennifer M; Hayes Piel, Megan

    2016-12-01

    Families who foster offer essential care for children and youth when their own parents are unable to provide for their safety and well-being. Foster caregivers face many challenges including increased workload, emotional distress, and the difficulties associated with health and mental health problems that are more common in children in foster care. Despite these stressors, many families are able to sustain fostering while maintaining or enhancing functioning of their unit. This qualitative study applied an adaptational process model of family resilience that emerged in previous studies to examine narratives of persistent, long-term, and multiple fostering experiences. Data corroborated previous research in two ways. Family resilience was again described as a transactional process of coping and adaptation that evolves over time. This process was cultivated through the activation of 10 family strengths that are important in different ways, during varied phases. © 2016 Family Process Institute.

  13. Family meal traditions. Comparing reported childhood food habits to current food habits among university students.

    Science.gov (United States)

    De Backer, Charlotte J S

    2013-10-01

    The aim of this study is to investigate if reported childhood food habits predict the food habits of students at present. Questions addressed are: does the memory of childhood family meals promote commensality among students? Does the memory of (grand)parents' cooking influence students' cooking? And, is there still a gender difference in passing on everyday cooking skills? Using a cross-sectional survey, 104 students were asked about their current eating and cooking habits, and their eating habits and the cooking behavior of their (grand)parents during their childhood. Results show that frequencies in reported childhood family meals predict frequencies of students' commensality at present. The effects appear for breakfast and dinner, and stay within the same meal: recalled childhood family breakfasts predict current breakfast commensality, recalled childhood family dinners predict current dinner commensality. In terms of recalled cookery of (grand)parents and the use of family recipes a matrilineal dominance can be observed. Mothers are most influential, and maternal grandmothers outscore paternal grandmothers. Yet, fathers' childhood cooking did not pass unnoticed either. They seem to influence male students' cookery. Overall, in a life-stage of transgression students appear to maintain recalled childhood food rituals. Suggestions are discussed to further validate these results. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. Manager support for work/family issues and its impact on employee-reported pain in the extended care setting

    Science.gov (United States)

    O’Donnell, Emily M.; Berkman, Lisa F.; Subramanian, Sv

    2012-01-01

    Objective Supervisor-level policies and the presence of a manager engaged in an employee’s need to achieve work/family balance, or “supervisory support,” may benefit employee health, including self-reported pain. Methods We conducted a census of employees at four selected extended-care facilities in the Boston metropolitan region (n= 368). Supervisory support was assessed through interviews with managers and pain was employee-reported. Results Our multilevel logistic models indicate that employees with managers who report the lowest levels of support for work/family balance experience twice as much overall pain as employees with managers who report high levels of support. Conclusions Low supervisory support for work/family balance is associated with an increased prevalence of employee-reported pain in extended-care facilities. We recommend that manager-level policies and practices receive additional attention as a potential risk factor for poor health in this setting. PMID:22892547

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

    Science.gov (United States)

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

    2016-01-01

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

  16. 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.

  17. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

    Science.gov (United States)

    Slavotinek, Anne; Lee, Stephen S; Hamilton, Steven P

    2005-10-01

    We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However, no amino acid sequence alterations were identified in SOX3. We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1. (c) 2005 Wiley-Liss, Inc.

  18. Phylogeny of the Vitamin K 2,3-Epoxide Reductase (VKOR) Family and Evolutionary Relationship to the Disulfide Bond Formation Protein B (DsbB) Family.

    Science.gov (United States)

    Bevans, Carville G; Krettler, Christoph; Reinhart, Christoph; Watzka, Matthias; Oldenburg, Johannes

    2015-07-29

    In humans and other vertebrate animals, vitamin K 2,3-epoxide reductase (VKOR) family enzymes are the gatekeepers between nutritionally acquired K vitamins and the vitamin K cycle responsible for posttranslational modifications that confer biological activity upon vitamin K-dependent proteins with crucial roles in hemostasis, bone development and homeostasis, hormonal carbohydrate regulation and fertility. We report a phylogenetic analysis of the VKOR family that identifies five major clades. Combined phylogenetic and site-specific conservation analyses point to clade-specific similarities and differences in structure and function. We discovered a single-site determinant uniquely identifying VKOR homologs belonging to human pathogenic, obligate intracellular prokaryotes and protists. Building on previous work by Sevier et al. (Protein Science 14:1630), we analyzed structural data from both VKOR and prokaryotic disulfide bond formation protein B (DsbB) families and hypothesize an ancient evolutionary relationship between the two families where one family arose from the other through a gene duplication/deletion event. This has resulted in circular permutation of primary sequence threading through the four-helical bundle protein folds of both families. This is the first report of circular permutation relating distant a-helical membrane protein sequences and folds. In conclusion, we suggest a chronology for the evolution of the five extant VKOR clades.

  19. Adenylosuccinate lyase (ADSL) and infantile autism: Absence of previously reported point mutation

    Energy Technology Data Exchange (ETDEWEB)

    Fon, E.A.; Sarrazin, J.; Rouleau, G.A. [Montreal General Hospital (Canada)] [and others

    1995-12-18

    Autism is a heterogeneous neuropsychiatric syndrome of unknown etiology. There is evidence that a deficiency in the enzyme adenylosuccinate lyase (ADSL), essential for de novo purine biosynthesis, could be involved in the pathogenesis of certain cases. A point mutation in the ADSL gene, resulting in a predicted serine-to-proline substitution and conferring structural instability to the mutant enzyme, has been reported previously in 3 affected siblings. In order to determine the prevalence of the mutation, we PCR-amplified the exon spanning the site of this mutation from the genomic DNA of patients fulfilling DSM-III-R criteria for autistic disorder. None of the 119 patients tested were found to have this mutation. Furthermore, on preliminary screening using single-strand conformation polymorphism (SSCP), no novel mutations were detected in the coding sequence of four ADSL exons, spanning approximately 50% of the cDNA. In light of these findings, it appears that mutations in the ADSL gene represent a distinctly uncommon cause of autism. 12 refs., 2 figs.

  20. Adolescents' knowledge of medical terminology and family health history.

    Science.gov (United States)

    Hastrup, J L; Phillips, S M; Vullo, K; Kang, G; Slomka, L

    1992-01-01

    Compared 309 youths ages 11 to 15 years and their parents with respect to their comprehension of terms for seven common medical disorders: heart attack, stroke, atherosclerosis, ulcer, hypertension, diabetes, and cancer. For two thirds of the adolescent sample, accuracy of reporting of these disorders among the parents and grandparents was assessed. Results indicated considerable variation among disorders with respect to both comprehension of terms and accuracy of family health history. Adolescents' age was a major predictor of knowledge of medical terms (r = .41). Age was not related to accuracy of family health information. Consonant with this finding, adolescents' level of accuracy regarding family health history was generally similar to that of previous adult samples, suggesting that family health information is acquired and retained at an early age. Adolescents were more accurate concerning parents' compared with grandparents' history of hypertension.

  1. Stevens-Johnson Syndrome Induced by Carbamazepine Treatment in a Patient Who Previously Had Carbamazepine Induced Pruritus - A Case Report -

    OpenAIRE

    Bae, Hyun Min; Park, Yoo Jung; Kim, Young Hoon; Moon, Dong Eon

    2013-01-01

    Stevens-Johnson syndrome (SJS) is a rare but life-threatening skin reaction disease and carbamazepine is one of its most common causes. We report a case of SJS secondary to carbamazepine in a patient with previous pruritus due to carbamazepine which was given for treatment of trigeminal neuralgia. We would like to caution all providers that carbamazepine readministration should be avoided in the patient with a previous history of SJS or adverse skin reaction. In addition, we strongly recommen...

  2. Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

    Science.gov (United States)

    Chiang, Huei-Hsin; Rosvall, Lina; Brohede, Jesper; Axelman, Karin; Björk, Behnosh F; Nennesmo, Inger; Robins, Tiina; Graff, Caroline

    2008-11-01

    Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by cognitive impairment, language dysfunction, and/or changes in personality. Recently it has been shown that progranulin (GRN) mutations can cause FTD as well as other neurodegenerative phenotypes. DNA from 30 family members, of whom seven were diagnosed with FTD, in the Karolinska family was available for GRN sequencing. Fibroblast cell mRNA from one affected family member and six control individuals was available for relative quantitative real-time polymerase chain reaction to investigate the effect of the mutation. Furthermore, the cDNA of an affected individual was sequenced. Clinical and neuropathologic findings of a previously undescribed family branch are presented. A frameshift mutation in GRN (g.102delC) was detected in all affected family members and absent in four unaffected family members older than 70 years. Real-time polymerase chain reaction data showed an approximately 50% reduction of GRN fibroblast mRNA in an affected individual. The mutated mRNA transcripts were undetectable by cDNA sequencing. Segregation and RNA analyses showed that the g.102delC mutation, previously reported, causes FTD in the Karolinska family. Our findings add further support to the significance of GRN in FTD etiology and the presence of modifying genes, which emphasize the need for further studies into the mechanisms of clinical heterogeneity. However, the results already call for attention to the complexity of predictive genetic testing of GRN mutations.

  3. Comprehensive Community Mental Health Services for Children and Their Families Program, Evaluation Findings: Annual Report to Congress 2010

    Science.gov (United States)

    Substance Abuse and Mental Health Services Administration, 2010

    2010-01-01

    This report to Congress provides critical information about the Comprehensive Community Mental Health Services for Children and their Families Program (CMHI), including the characteristics of children, youth, and families as they enter the CMHI; the outcomes attained for children and youth, and their caregivers and families after entry into the…

  4. Eucharitidae (Hymenoptera, Chalcidoidea, a family new to the fauna of Saudi Arabia, with the description of the previously unknown male of Eucharis (Psilogastrellus affinis Bouček

    Directory of Open Access Journals (Sweden)

    Neveen S. Gadallah

    2014-12-01

    Full Text Available The family Eucharitidae (Hymenoptera: Chalcidoidea is recorded for the first time for the fauna of Saudi Arabia based on Hydrorhoa caffra (Westwood and Eucharis (Psilogastrellus affinis Bouček. The record of H. caffra suggests that Al-Baha and Asir provinces should be considered as part of the Afrotropical rather than the Palaearctic region. The previously unknown male of E. affinis Bouček is described and figured. Macrophotographs of the species are provided.

  5. Familial occurrence of cerebral gigantism, Sotos' syndrome.

    Science.gov (United States)

    Hansen, F J; Friis, B

    1976-05-01

    Since the original description of cerebral gigantism, about 85 cases have been reported. Four papers comment on familial occurrence but never in parents and their children. This paper describes the syndrome in a mother and her child, which, together with facts pointing towards prenatal etiology, such as excessive birthweight, striking mutual resemblance and abnormal dermatoglyphics, points to a genetic defect. Previous endocrine studies are enlarged by the findings of normal serum somatomedin and serum prolactin.

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

    Science.gov (United States)

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

    1997-01-01

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

  7. Mother-Child Discrepancy in Perceived Family Functioning and Adolescent Developmental Outcomes in Families Experiencing Economic Disadvantage in Hong Kong.

    Science.gov (United States)

    Leung, Janet T Y; Shek, Daniel T L; Li, Lin

    2016-10-01

    Though growing attention has been devoted to examining informant discrepancies of family attributes in social science research, studies that examine how interactions between mother-reported and adolescent-reported family functioning predict adolescent developmental outcomes in underprivileged families are severely lacking. The current study investigated the difference between mothers and adolescents in their reports of family functioning, as well as the relationships between mother-reported and adolescent-reported family functioning and adolescent developmental outcomes in a sample of 432 Chinese single-mother families (mean age of adolescents = 13.7 years, 51.2 % girls, mean age of mothers = 43.5 years, 69.9 % divorced) experiencing economic disadvantage in Hong Kong. Polynomial regression analyses were conducted to assess whether discrepancy in family functioning between mother reports and adolescent reports predicted resilience, beliefs in the future, cognitive competence, self-efficacy and self-determination of adolescents. The results indicated that adolescents reported family functioning more negatively than did their mothers. Polynomial regression analyses showed that the interaction term between mothers' reports and adolescents' reports of family functioning predicted adolescent developmental outcomes in Chinese single-mother families living in poverty. Basically, under poor adolescent-reported family functioning, adolescent development would be relatively better if their mothers reported more positive family functioning. In contrast, under good adolescent-reported family functioning, adolescents expressed better developmental outcomes when mothers reported lower levels of family functioning than those mothers who reported higher levels of family functioning. The findings provide insights on how congruency and discrepancy between informant reports of family functioning would influence adolescent development. Theoretical and practical implications of

  8. Parental Criminality, Family Violence and Intergenerational Transmission of Crime Within a Birth Cohort

    NARCIS (Netherlands)

    Junger, Marianne; Greene, J.; Schipper, R.; Hesper, F.; Estourgie, V.

    2013-01-01

    Previous studies documented that crime is heavily concentrated in families. However, many studies relied on relatively small samples, often males and information on criminal involvement was self-reported. The present study investigates: (1) the prevalence of arrests in three generations; (2) the

  9. The Coffin-Siris syndrome: report of a family and further delineation.

    Science.gov (United States)

    Haspeslagh, M; Fryns, J P; van den Berghe, H

    1984-10-01

    The familial occurrence of the Coffin-Siris syndrome, combining a typical facial appearance with hypoplastic or absent fifth finger- or toenails, is reported. The full expression of the syndrome was present in two sisters, and partial clinical manifestations were present in their mentally borderline father. The relevant literature is reviewed, and the relation and confusion with other mental retardation syndromes, mainly the Coffin-Lowry syndrome, is discussed.

  10. Flexible work arrangements and work-family conflict after childbirth.

    Science.gov (United States)

    Grice, Mira M; McGovern, Patricia M; Alexander, Bruce H

    2008-10-01

    Previous research has revealed that work-family conflict negatively influences women's health following childbirth. To examine if flexible work arrangements were associated with work-family conflict among women, 1 year after childbirth. Employed women, aged >or=18, were recruited while hospitalized for childbirth. Flexible work arrangements were measured at 6 months and work-family conflict was measured at 12 months. General linear models estimated the association between flexible work arrangements and work-family conflict. Of 1157 eligible participants, 522 were included in this analysis giving a 45% response rate. Compared to women who reported that taking time off was very hard, those who reported it was not too hard (beta = -0.80, SE = 0.36, P hours was associated with greater home spillover (beta = 0.46, SE = 0.18, P work home was associated with increased home spillover (beta = 0.35, SE = 0.14, P work hours and the ability to take work home were associated with increased home spillover to work. The ability to take time off was associated with decreased job spillover to home. Additional research is needed to examine the intentional and unintentional consequences of flexible work arrangements.

  11. The Activity Support Scale for Multiple Groups (ACTS-MG): Child-reported Physical Activity Parenting in African American and Non-Hispanic White Families.

    Science.gov (United States)

    Lampard, Amy M; Nishi, Akihiro; Baskin, Monica L; Carson, Tiffany L; Davison, Kirsten K

    2016-01-01

    This study aimed to assess the psychometric properties of a child-report, multidimensional measure of physical activity (PA) parenting, the Activity Support Scale for Multiple Groups (ACTS-MG), in African American and non-Hispanic white families. The ACTS-MG was administered to children aged 5 to 12 years. A three factor model of PA parenting (Modeling of PA, Logistic Support, and Restricting Access to Screen-based Activities) was tested separately for mother's and fathers' PA parenting. The proposed three-factor structure was supported in both racial groups for mothers' PA parenting and in the African American sample for fathers' PA parenting. Factorial invariance between racial groups was demonstrated for mother's PA parenting. Building on a previous study examining the ACTS-MG parent-report, this study supports the use of the ACTS-MG child-report for mothers' PA parenting. However, further research is required to investigate the measurement of fathers' PA parenting across racial groups.

  12. The Chinese Version of the Self-Report Family Inventory: Reliability and Validity.

    Science.gov (United States)

    Shek, Daniel T. L.; Lai, Kelly Y. C.

    2001-01-01

    Reliability and validity of Chinese Self-Report Family Inventory (C-SFI) were examined in three studies. Study 1 showed C-SFI was temporally stable and internally consistent. Study 2 indicated C-SFI could discriminate between clinical and nonclinical groups. Study 3 gave support for internal consistency, concurrent validity and construct validity.…

  13. Parent-reported suicidal behavior and correlates among adolescents in China.

    Science.gov (United States)

    Liu, Xianchen; Sun, Zhenxiao; Yang, Yanyun

    2008-01-01

    Suicidal risk begins to increase during adolescence and is associated with multiple biological, psychological, social, and cultural factors. This study examined the prevalence and psychosocial factors of parent-reported suicidal behavior in Chinese adolescents. A community sample of 1920 adolescents in China participated in an epidemiological study. Parents completed a structured questionnaire including child suicidal behavior, illness history, mental health problems, family history, parenting, and family environment. Multiple logistic regression was used for data analysis. Overall, 2.4% of the sample talked about suicide in the previous 6 months, 3.2% had deliberately hurt themselves or attempted suicide, and 5.1% had either suicidal talk or self-harm. The rate of suicidal behavior increased as adolescents aged. Multivariate logistic regression indicated that the following factors were significantly associated with elevated risk for suicidal behavior: depressive/anxious symptoms, poor maternal health, family conflict, and physical punishment of parental discipline style. Suicidal behavior was reported by parents. No causal relationships could be made based on cross-sectional data. The prevalence rate of parent-reported suicidal behavior is markedly lower than self-reported rate in previous research. Depressive/anxious symptoms and multiple family environmental factors are associated with suicidal behavior in Chinese adolescents.

  14. Renal and suprarenal insufficiency secondary to familial Mediterranean fever associated with amyloidosis: a case report

    Directory of Open Access Journals (Sweden)

    Sari Nagehan

    2011-08-01

    Full Text Available Abstract Introduction Familial Mediterranean fever is an autosomal recessive disease that predominantly affects people of the Mediterranean coast. One of the most frequent complications of the disease is amyloidosis. This clinical entity is known as secondary (also called AA amyloidosis. Case presentation In this report, we describe the case of a 33-year-old Turkish man with familial Mediterranean fever and chronic renal insufficiency. He was admitted to our clinic with symptoms of suprarenal insufficiency. The patient died three months later as a result of cardiac arrest. Conclusion Our aim is to make a contribution to the literature by reporting a case of combined insufficiency due to the accumulation of renal and adrenal amyloid in a patient with familial Mediterranean fever, which has very rarely been described in the literature. We hope that adrenal insufficiency, which becomes fatal if not diagnosed and treated rapidly, will come to mind as easily as chronic renal failure in clinical practice.

  15. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  16. ErpC, a member of the complement regulator-acquiring family of surface proteins from Borrelia burgdorferi, possesses an architecture previously unseen in this protein family

    International Nuclear Information System (INIS)

    Caesar, Joseph J. E.; Johnson, Steven; Kraiczy, Peter; Lea, Susan M.

    2013-01-01

    The structure of ErpC, a member of the complement regulator-acquiring surface protein family from B. burgdorferi, has been solved, providing insights into the strategies of complement evasion by this zoonotic bacterium and suggesting a common architecture for other members of this protein family. Borrelia burgdorferi is a spirochete responsible for Lyme disease, the most commonly occurring vector-borne disease in Europe and North America. The bacterium utilizes a set of proteins, termed complement regulator-acquiring surface proteins (CRASPs), to aid evasion of the human complement system by recruiting and presenting complement regulator factor H on its surface in a manner that mimics host cells. Presented here is the atomic resolution structure of a member of this protein family, ErpC. The structure provides new insights into the mechanism of recruitment of factor H and other factor H-related proteins by acting as a molecular mimic of host glycosaminoglycans. It also describes the architecture of other CRASP proteins belonging to the OspE/F-related paralogous protein family and suggests that they have evolved to bind specific complement proteins, aiding survival of the bacterium in different hosts

  17. Toward High Quality Family Day Care for Infants and Toddlers. Final Report.

    Science.gov (United States)

    Rauch, Marian D.; Crowell, Doris C.

    Reported were the results of a project which established a cluster of family day care homes in Hawaii in which caregivers were selected, trained, and provided with supportive services and salaries. The primary objective of the program was to provide a replicable, high quality program for preschool children that would maximize social, emotional,…

  18. Family physician's knowledge, beliefs, and self-reported practice patterns regarding hyperlipidemia: a National Research Network (NRN) survey.

    Science.gov (United States)

    Eaton, Charles B; Galliher, James M; McBride, Patrick E; Bonham, Aaron J; Kappus, Jennifer A; Hickner, John

    2006-01-01

    Family physicians have the potential to make a major impact on reducing the burden of cardiovascular disease through the optimal assessment and management of hyperlipidemia. We were interested in assessing the knowledge, beliefs, and self-reported practice patterns of a representative sample of family physicians regarding the assessment and management of hyperlipidemia 2 years after the release of the evidence-based National Cholesterol Education Program (NCEP) Adult Treatment Panel (ATP) III guidelines. A 33-item survey was mailed to a random sample (N = 1200) of members of the American Academy of Family Physicians in April of 2004, with 2 follow-up mailings to nonresponders. Physicians were queried about sociodemographic characteristics, their knowledge, attitudes, and self-reported practice patterns regarding the assessment and management of hyperlipidemia. Four case scenarios also were presented. Response rate was 58%. Over 90% of surveyed family physicians screened adults for hyperlipidemia as part of a cardiovascular disease prevention strategy. Most (89%) did this screening by themselves without the support of office staff, and 36% reported routine use of a flow sheet. Most had heard of the ATP III guidelines (85%), but only 13% had read them carefully. Only 17% of respondents used a coronary heart disease (CHD) risk calculator usually or always. Over 90% of those responding reported using low-density lipoprotein (LDL) as the treatment goal but only 76% reported using non-high-density lipoprotein (HDL) cholesterol as a secondary goal of therapy. We found a large variability in knowledge, beliefs, and practice patterns among practicing family physicians. We found general agreement on universal screening of adults for hyperlipidemia as part of cardiovascular disease prevention strategy and use of LDL cholesterol as a treatment goal. Many other aspects of the NCEP ATP III guidelines, such as use of a systematic, multidisciplinary approach, using non

  19. Febrile urticaria in a family: uncommon manifestation of a common disease.

    Science.gov (United States)

    Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

    2012-12-15

    Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

  20. Decision Profiles of Mexican-Descent Families.

    Science.gov (United States)

    Baker, Georgianne

    An exploratory study of decision-making in families of Mexican heritage was carried out in Phoenix, Arizona. A Normative model of decision rationality and measurement (Family Problem Instrument-FPI) was adapted from previous research. Tape-recorded data were provided by 27 families. Husbands and wives responded separately to family decision…

  1. Special Report: Banjul Islam Conference endorses family planning.

    Science.gov (United States)

    1979-11-01

    44 participants from 12 West African nations met in Banjul, the Gambia, from October 22-26, 1979 and unanimously agreed that family planning is in conformity with Islam. They called for greater involvement of local Muslim leaders in African countries to encourage family planning for the promotion of maternal and child health. The Conference was sponsored by IPPF Africa Region and attended by representatives of Muslim associations, health and family planning workers, teachers, government officials, and experts on Muslim law from Cameroon, The Gambia, Ghana, Guinea, Liberia, Mali, Morocco, Nigeria, Senegal, Sierra Leone, Upper Volta, and Zaire. The Conference members acknowledged that while the Koran, the Sunna, and the concensus of most Islam scholars is that family planning is acceptable within marriage, most traditional religious leaders are ignorant of the fact. Muslim women should be encouraged to take an interest in family planning. Other recommendations were educating Muslims on nutrition, sanitation, and health; to collect views of African Muslim leaders and publicize them; and, to persuade Ministries of Education to include family relations and parenthood in school curricula.

  2. Revised age estimates of the Euphrosyne family

    Science.gov (United States)

    Carruba, Valerio; Masiero, Joseph R.; Cibulková, Helena; Aljbaae, Safwan; Espinoza Huaman, Mariela

    2015-08-01

    The Euphrosyne family, a high inclination asteroid family in the outer main belt, is considered one of the most peculiar groups of asteroids. It is characterized by the steepest size frequency distribution (SFD) among families in the main belt, and it is the only family crossed near its center by the ν6 secular resonance. Previous studies have shown that the steep size frequency distribution may be the result of the dynamical evolution of the family.In this work we further explore the unique dynamical configuration of the Euphrosyne family by refining the previous age values, considering the effects of changes in shapes of the asteroids during YORP cycle (``stochastic YORP''), the long-term effect of close encounters of family members with (31) Euphrosyne itself, and the effect that changing key parameters of the Yarkovsky force (such as density and thermal conductivity) has on the estimate of the family age obtained using Monte Carlo methods. Numerical simulations accounting for the interaction with the local web of secular and mean-motion resonances allow us to refine previous estimates of the family age. The cratering event that formed the Euphrosyne family most likely occurred between 560 and 1160 Myr ago, and no earlier than 1400 Myr ago when we allow for larger uncertainties in the key parameters of the Yarkovsky force.

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

    Directory of Open Access Journals (Sweden)

    Cynthia J Patel

    2006-10-01

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

  4. 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...

  5. A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Ram Nanik

    2012-12-01

    Full Text Available Abstract Background Familial glucocorticoid deficiency (FGD is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. Case presentation An eight month old boy presented with increased genital pigmentation. Initial investigation revealed that he was glucocorticoid deficient and was started on hydrocortisone and fludrocortisone with a diagnosis of primary adrenal insufficiency. Later fludrocortisone was withdrawn and he was diagnosed to have isolated glucocorticoid deficiency. He later developed focal segmental glomerulosclerosis for which he underwent renal transplantation at the age of five years. Now at the age of twelve years, this boy is doing well on hydrocortisone treatment. His two siblings and a first degree cousin also had isolated glucocorticoid deficiency. One of the above two siblings died due to renal failure secondary to focal segmental glomerulosclerosis. Conclusion Patients with familial glucocorticoid deficiency should be carefully followed for development of features of nephrotic syndrome.

  6. Molecular Descriptors Family on Structure Activity Relationships 1. Review of the Methodology

    Directory of Open Access Journals (Sweden)

    Lorentz JÄNTSCHI

    2005-01-01

    Full Text Available This review cumulates the knowledge about the use of Molecular Descriptors Family usage on Structure Activity Relationships. The methodology is augmented through the general Structure Activity Relationships methodology. The obtained models in a series of five papers are quantitatively analyzed by comparing with previous reported results by using of the correlated correlations tests. The scores for a series of 13 data sets unpublished yet results are presented. Two unrestricted online access portals to the Molecular Descriptors Family Structure Activity Relationship models results are given.

  7. 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.

  8. Rapid expansion of the protein disulfide isomerase gene family facilitates the folding of venom peptides

    DEFF Research Database (Denmark)

    Safavi-Hemami, Helena; Li, Qing; Jackson, Ronneshia L.

    2016-01-01

    Formation of correct disulfide bonds in the endoplasmic reticulum is a crucial step for folding proteins destined for secretion. Protein disulfide isomerases (PDIs) play a central role in this process. We report a previously unidentified, hypervariable family of PDIs that represents the most...... diverse gene family of oxidoreductases described in a single genus to date. These enzymes are highly expressed specifically in the venom glands of predatory cone snails, animals that synthesize a remarkably diverse set of cysteine-rich peptide toxins (conotoxins). Enzymes in this PDI family, termed...

  9. MED23-associated intellectual disability in a non-consanguineous family.

    Science.gov (United States)

    Trehan, Aditi; Brady, Jacqueline M; Maduro, Valerie; Bone, William P; Huang, Yan; Golas, Gretchen A; Kane, Megan S; Lee, Paul R; Thurm, Audrey; Gropman, Andrea L; Paul, Scott M; Vezina, Gilbert; Markello, Thomas C; Gahl, William A; Boerkoel, Cornelius F; Tifft, Cynthia J

    2015-06-01

    Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers in a nonconsanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3: [3656A > G];[4006C > T], NP_057063.2: [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent genes. These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. They also expand upon the clinical features previously reported for mutations in this gene. © 2015 Wiley Periodicals, Inc.

  10. Work and Family Patterns of American Women. The Family Life Cycle: 1985; [and] Maternity Leave Arrangements: 1961-85. Current Population Reports.

    Science.gov (United States)

    Current Population Reports, 1990

    1990-01-01

    The two papers in this report focus on some of the social, demographic, and economic consequences of the increasing entry of women into the workforce. Arthur Norton and Louisa Miller in "The Family Life Cycle: 1985" show trends in the frequency and timing of marriage, divorce, remarriage, and fertility across several generations of…

  11. Mediation of Family Alcoholism Risk by Religious Affiliation Types*

    Science.gov (United States)

    Haber, Jon Randolph; Jacob, Theodore

    2009-01-01

    Objective: Religious affiliation is inversely associated with alcohol dependence (AD). Our previous findings indicated that when a religious affiliation differentiated itself from cultural norms, then high-risk adolescents (those having parents with alcoholism history) raised with these affiliations exhibited fewer AD symptoms compared with adolescents of other religious affiliations and nonreligious adolescents. The first of two studies reported here provides a needed replication of our previous findings for childhood religious affiliation using a different sample, and the second study extends examination to current religious affiliation. Method: A national sample of male and female adolescents/young adults (N = 1,329; mean age = 19.6 years) was selected who were the offspring of members of the Vietnam Era Twin Registry. Parental alcoholism, religious affiliation types, and their interactions were examined as predictors of offspring AD symptoms. Results: (1) Offspring reared with a differentiating religious affiliation during childhood exhibited significantly fewer AD symptoms as young adults; (2) offspring with current differentiating religious affiliation also exhibited fewer AD symptoms; this main effect was not weakened by adding other measures of religiousness to the model; (3) differentiating religious affiliation was correlated with both family alcoholism risk and offspring outcome, and removed the association between family alcoholism risk and offspring outcome, thus indicating that differentiating religious affiliation was at least a partial mediator of the association between family AD history risk and offspring AD outcome. Conclusions: Current results indicate that religious differentiation is an inverse mediator of alcoholism risk for offspring with or without parental AD history and regardless of the influence of other religion variables. Results replicated our previous report on religious upbringing between ages 6 and 13 years and indicated an even

  12. Family Planning Evaluation. Abortion Surveillance Report--Legal Abortions, United States, Annual Summary, 1970.

    Science.gov (United States)

    Center for Disease Control (DHEW/PHS), Atlanta, GA.

    This report summarizes abortion information received by the Center for Disease Control from collaborators in state health departments, hospitals, and other pertinent sources. While it is intended primarily for use by the above sources, it may also interest those responsible for family planning evaluation and hospital abortion planning. Information…

  13. Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

    Science.gov (United States)

    Islam, Yasmin Florence Khodeja; Williams, Charles A; Schoch, Jennifer Jane; Andrews, Israel David

    2017-01-01

    We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

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

    Science.gov (United States)

    Trangkasombat, Umaporn

    2006-11-01

    To examine family functioning in the families of psychiatric patients. Families of psychiatric patients and nonclinical families were compared. There were 60 families in each group. The instrument included a semistructured interview of family functioning and the Chulalongkorn Family Inventory (CFI), a self-report questionnaire designed to assess the perception of one's family. From the assessment by semistructured interview, 83.3% of psychiatric families and 45.0% of nonclinical families were found to be dysfunctional in at least one dimension. The difference was statistically significant (p dysfunctional dimensions in the psychiatric families was significantly higher than in the nonclinical control group, 3.5 +/- 1.9 and 0.98 +/- 1.5 respectively, p families were significantly lower than the control group, reflecting poor family functioning. The dysfunctions were mostly in the following dimensions: problem-solving, communication, affective responsiveness, affective involvement, and behavior control. Psychiatric families faced more psychosocial stressors and the average number of stressors was higher than the control families, 88.3% vs. 56.7% and 4.2 +/- 2.7 vs. 1.3 +/- 1.47 stressors respectively, p < 0.0001. Family functioning of psychiatric patients was less healthy than the nonclinical control. The present study underlined the significance of family assessment and family intervention in the comprehensive care of psychiatric patients.

  15. Maladaptive schemas as mediators of the relationship between previous victimizations in the family and dating violence victimization in adolescents.

    Science.gov (United States)

    Calvete, Esther; Gámez-Guadix, Manuel; Fernández-Gonzalez, Liria; Orue, Izaskun; Borrajo, Erika

    2018-07-01

    This study examined whether exposure to family violence, both in the form of direct victimization and witnessing violence, predicted dating violence victimization in adolescents through maladaptive schemas. A sample of 933 adolescents (445 boys and 488 girls), aged between 13 and 18 (M = 15.10), participated in a three-year longitudinal study. They completed measures of exposure to family violence, maladaptive schemas of disconnection/rejection, and dating violence victimization. The findings indicate that witnessing family violence predicts the increase of dating violence victimization over time, through the mediation of maladaptive schemas in girls, but not in boys. Direct victimization in the family predicts dating violence victimization directly, without the mediation of schemas. In addition, maladaptive schemas contribute to the perpetuation of dating violence victimization over time. These findings provide new opportunities for preventive interventions, as maladaptive schemas can be modified. Copyright © 2018 Elsevier Ltd. All rights reserved.

  16. Development and Psychometric Properties of the OCD Family Functioning (OFF) Scale

    Science.gov (United States)

    Stewart, S. Evelyn; Hu, Yu-Pei; Hezel, Dianne M.; Proujansky, Rachel; Lamstein, Abby; Walsh, Casey; Ben-Joseph, Elana Pearl; Gironda, Christina; Jenike, Michael; Geller, Daniel A.; Pauls, David L.

    2013-01-01

    Obsessive–compulsive disorder (OCD) influences not only patients but also family members. Although the construct of family accommodation has received attention in OCD literature, no measures of overall family functioning are currently available. The OCD Family Functioning (OFF) Scale was developed to explore the context, extent, and perspectives of functional impairment in families affected by OCD. It is a three-part, self-report measure capturing independent perspectives of patients and relatives. A total of 400 subjects were enrolled between 2008 and 2010 from specialized OCD clinics and OCD research studies. Psychometric properties of this scale were examined including internal consistency, test–retest reliability, convergent and divergent validity, and exploratory factor analyses. Both patient and relative versions of the OFF Scale demonstrated excellent internal consistency (Cronbach’s alpha coefficient = 0.96). The test–retest reliability was also adequate (ICC = 0.80). Factor analyses determined that the OFF Scale comprises a family functioning impairment factor and four OCD symptom factors that were consistent with previously reported OCD symptom dimension studies. The OFF Scale demonstrated excellent convergent validity with the Family Accommodation Scale and the Work and Social Adjustment Scale. Information gathered regarding emotional impact and family role-specific impairment was novel and not captured by other examined scales. The OFF Scale is a reliable and valid instrument for the clinical and research assessment of family functioning in pediatric and adult OCD. This will facilitate the exploration of family functioning impairment as a potential risk factor, as a moderator and as a treatment outcome measure in OCD. PMID:21553962

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

    Science.gov (United States)

    Panganiban-Corales, Avegeille T; Medina, Manuel F

    2011-10-31

    Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Many Filipino families of children with cancer have inadequate resources, especially economic; and are moderately or severely

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

    Directory of Open Access Journals (Sweden)

    Panganiban-Corales Avegeille T

    2011-10-01

    Full Text Available Abstract Background Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. Methods This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. Results More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70 and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Conclusion Many Filipino families of children with cancer have inadequate

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

    OpenAIRE

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

    2017-01-01

    Children’s drawings have previously been found to reflect their representations of family relationships. The present study examined whether evidence-based parent training for child conduct problems impacts on representations of family functioning using the Family Drawing Paradigm (FDP). N = 53 clinic-referred children (aged 3–15) with conduct problems and their families were assessed pre-treatment and at 6-month follow-up on a modified version of the FDP. Analyses of changes in the FDP reveal...

  20. Family and individual factors of suicidal ideation in adolescents

    Directory of Open Access Journals (Sweden)

    Srdanović-Maraš Jelena

    2011-01-01

    Full Text Available The aim of this study was to better understand the phenomenon of suicidal behavior of adolescents by establishing relations between characteristics of a family system and suicidal ideation, as well as determining the influence of family and individual factors on suicidal ideation in adolescents. The systemic family therapy was used as the theoretical framework for this investigation. The study sample included 96 adolescents, aged 14-21 years, who assessed the functionality of their own families that were in the adolescent phase of a family life cycle at the time of the study. Participants were assigned to one of the three groups: the first consisted of adolescents who had previously attempted suicide, the second of adolescents who had another psychiatric problem at the time of the study, and the third was made up of adolescents who had never had psychiatric or psychological problems. The following instruments were used: Self-report Family Inventory (SFI, Beck’s Depression Inventory (BDI, Rosenberg’s Self-Esteem Scale, and Beck’s Suicidal Ideation Scale (SIS. The results suggest that family has a significant, but indirect influence on suicidal ideation in adolescents. Suicidal ideation is primarily related to adolescents’ individual characteristics, which are indeed strongly influenced by family functionality.

  1. Typologies of Caregiving Families: Family Congruence and Individual Well-Being.

    Science.gov (United States)

    Pruchno, Rachel A.; And Others

    1997-01-01

    Used data from 252 female primary caregivers, their husbands, and children to create family typologies based on the extent of similarities among reports of elder behaviors. Results indicate that families characterized by high agreement and those characterized by low agreement significantly differed from one another. Other findings are reported.…

  2. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

    Science.gov (United States)

    Bordbar, Mohammad Reza; Modarresi, Farzaneh; Farazi Fard, Mohammad Ali; Dastsooz, Hassan; Shakib Azad, Nader; Faghihi, Mohammad Ali

    2017-05-03

    Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis. Therefore, genes involved in these steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2). Here, we report a novel missense mutation in an 8-year-old boy suffered from hepatosplenomegaly, hepatitis, epilepsy and pancytopenia. The patient was born to a first-cousin parents with no previous documented disease in his parents. To identify mutated gene in the proband, Whole Exome Sequencing (WES) utilizing next generation sequencing was used on an Illumina HiSeq 2000 platform on DNA sample from the patient. Results showed a novel deleterious homozygous missense mutation in PRF1 gene (NM_001083116: exon3: c. 1120 T > G, p.W374G) in the patient and then using Sanger sequencing it was confirmed in the proband and his parents. Since his parents were heterozygous for the identified mutation, autosomal recessive pattern of inheritance was confirmed in the family. Our study identified a rare new pathogenic missense mutation in PRF1 gene in patient with HLH disease and it is the first report of mutation in PRF1 in Iranian patients with this disease.

  3. Moderators of the relationship between frequent family demands and inflammation among adolescents.

    Science.gov (United States)

    Levine, Cynthia S; Hoffer, Lauren C; Chen, Edith

    2017-05-01

    Frequent demands from others in relationships are associated with worse physiological and health outcomes. The present research investigated 2 potential moderators of the relationship between frequency of demands from one's family and inflammatory profiles among adolescents: (a) closeness of adolescents' relationships with their families, and (b) the frequency with which adolescents provided help to their families. Two hundred thirty-four adolescents, ages 13-16 (Mage = 14.53; 47.83% male), completed a daily dairy in which they reported on the frequency of demands made by family members. They were also interviewed about the closeness of their family relationships and reported in the daily diary on how frequently they provided help to their families. Adolescents also underwent a blood draw to assess low-grade inflammation and proinflammatory cytokine production in response to bacterial stimulation. More frequent demands from family predicted higher levels of low-grade inflammation and cytokine production in response to bacterial stimulation in adolescents. Family closeness moderated the relationship between frequent demands and stimulated cytokine production such that more frequent demands predicted higher cytokine production among adolescents who were closer to their families. Furthermore, frequency of providing help moderated the relationship between frequent demands and both low-grade inflammation and stimulated cytokine production, such that more frequent demands predicted worse inflammatory profiles among adolescents who provided more help to their families. These findings build on previous work on family demands and health to show under what circumstances family demands might have a physiological cost. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  4. Familial adenomatous polyposis. Report of a case

    International Nuclear Information System (INIS)

    Barroso Marquez, Lisset; Tusen Toledo, Yunia; Chao Gonzalez, Lissette; Alonso Soto, Jordi

    2009-01-01

    Familial adenomatous polyposis is an inherited disease characterized by the appearance of multiple colorectal adenomas by the teenagers and with an incidence of colorectal cancer approaching 100%. We present herein a 39-years-old man with an atypical form of the disease, an attenuated variant, and we comment the importance of management guidelines for surveillance of the patients and their families

  5. Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

    Science.gov (United States)

    Renner, Christian; Connor, William E; Steiner, Robert D

    2016-06-01

    A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. When she subsequently presented with giant platelets, the case was presented to colleagues on an electronic mailing list. It was recommended that plasma and sterol analysis be performed, which led to a diagnosis of sitosterolemia. The presentation of profound hypercholesterolomia in childhood that ultimately is not attributed as due to homozygous or compound heterozygous defects in the LDL receptor gene has been termed pseudohomozygous familial (or type II) hypercholesterolemia (PHT2HC). Patients diagnosed with PHT2HC subsequently confirmed to have sitosterolemia have been previously reported only rarely. The challenge of achieving accurate specific diagnosis and appropriate workup for these conditions in children is discussed in the context of this rare case and review of the historical literature concerning these conditions. © 2016 Marshfield Clinic.

  6. Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China

    Directory of Open Access Journals (Sweden)

    Xin Meng

    2013-01-01

    Full Text Available We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. The lesions appeared over his fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed a total serum cholesterol level of 752.1 mg/dL; a triglyceride level of 96.6 mg/dL; a low-density lipoprotein cholesterol level of 661.3 mg/dL. Findings were consistent with homozygous familial hypercholesterolemia. To our knowledge, this is the first such case to be reported from China.

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

    Science.gov (United States)

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

    2014-01-01

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

  8. A Review of the Family Embolemidae (Hymenoptera: Chrysidoidea from South Korea

    Directory of Open Access Journals (Sweden)

    Kim, Chang-Jun

    2016-04-01

    Full Text Available Previously only one species, Embolemus ruddii Westwood, 1833, of the family Embolemidae has been recorded in South Korea. As part of a recent study of this family, we newly report four species from South Korea: Embolemus hachijoensis Hirashima et Yamagishi, 1975; E. krombeini Olmi, 1996; E. sensitivus Xu, Olmi et Guglielmino, 2012; Ampulicomorpha thauma Rasnitsyn et Matveev, 1989. The genus, Ampulicomorpha Ashmead, 1893, is recorded for the first time in South Korea. Embolemus ruddii was previously recorded from South Korea because considered synonym of E. walkeri. However, in recent years the two species were separated and E. ruddii was considered absent in the far east, where on the contrary E. walkeri is present. Therefore, five species in two genera are now recognized as the South Korean embolemid fauna. A key to the South Korean Embolemidae species is provided.

  9. Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

    Science.gov (United States)

    Pelcastre, Erika L; Villanueva-Mendoza, Cristina; Zenteno, Juan C

    2010-05-01

    To present the results of molecular analysis of the NDP gene in Mexican families with Norrie disease (ND) and X-linked familial exudative vitreoretinopathy (XL-FEVR). Two unrelated families with ND and two with XL-FEVR were studied. Clinical diagnosis was suspected on the basis of a complete ophthalmologic examination. Molecular methods included DNA isolation from peripheral blood leucocytes, polymerase chain reaction amplification and direct nucleotide sequencing analysis of the complete coding region and exon-intron junctions of NDP. Haplotype analysis using NDP-linked microsatellites markers was performed in both ND families. A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with ND. Haplotype analysis demonstrated that affected males in these two families shared the same ND-linked haplotype, suggesting a common origin for this novel mutation. The previously reported p.Arg121Trp and p.Arg121Gln Norrin mutations were identified in the two families with XL-FEVR. Our results expand the mutational spectrum in ND. This is the first report of ND resulting from mutation at arginine position 41 of Norrin. Interestingly, mutations at the same residue but resulting in a different missense change were previously described in subjects with XL-FEVR (p.Arg41Lys) or persistent fetal vasculature syndrome (p.Arg41Ser), indicating that the novel p.Arg41Thr change causes a more severe retinal phenotype. Preliminary data suggest a founder effect for the ND p.Arg41Thr mutation in these two Mexican families.

  10. Lumbar spondylolysis: A report of four cases from two generations of a family.

    Science.gov (United States)

    Yurube, Takashi; Kakutani, Kenichiro; Okamoto, Koji; Manabe, Michihiko; Maeno, Koichiro; Yoshikawa, Masaho; Sha, Norihide; Kuroda, Ryosuke; Nishida, Kotaro

    2017-01-01

    Spondylolysis is a major cause of back pain in children and adolescents. The prevalence of spondylolysis depends on the sex, race, and congenital abnormality. These biases suggest hereditary predisposition as an etiology of spondylolysis. However, no conclusive evidence still exists regarding the inheritance for spondylolysis. Herein, we report rare cases with familial occurrence of lumbar spondylolysis. In two generations of a Japanese family, three brothers including identical twins complained of back pain related to sports activities. Clinical, radiographic, and computed tomographic examinations identified spondylolysis at L4 and L5 in all these boys. The father experienced long-term back pain and had spondylolisthesis at L4-L5 and healed spondylolysis at L5. The daughter and mother did not show any lumbar spondylolysis. The frequent development of spondylolysis at L4, a rarely affected segment, in four of six family members (66.7%) support that lumbar spondylolysis has an underlying genetic etiology, primarily autosomal dominant inheritance.

  11. Autonomy and Relatedness in Inner-City Families of Substance Abusing Adolescents.

    Science.gov (United States)

    Samuolis, Jessica; Hogue, Aaron; Dauber, Sarah; Liddle, Howard A

    2006-01-01

    This study examined parent-adolescent autonomous-relatedness functioning in inner-city, ethnic minority families of adolescents exhibiting drug abuse and related problem behaviors. Seventy-four parent-adolescent dyads completed a structured interaction task prior to the start of treatment that was coded using an established autonomous-relatedness measure. Adolescent drug use, externalizing, and internalizing behaviors were assessed. Parents and adolescents completed assessment instruments measuring parenting style and family conflict. Confirmatory factor analysis found significant differences in the underlying dimensions of parent and adolescent autonomous-relatedness in this sample versus previous samples. It was also found that autonomous-relatedness was associated with worse adolescent symptomatology and family impairment. Results based on both self-report and observational measures contribute to the understanding of key family constructs in this population and provide insight for both researchers and the treatment community.

  12. Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

    NARCIS (Netherlands)

    Soderhall, C.; Korberg, I.B.; Thai, H.T.; Cao, J.; Chen, Y; Zhang, X.; Shulu, Z.; Zanden, L.F.M. van der; Rooij, I.A.L.M. van; Frisen, L.; Roeleveld, N.; Markljung, E.; Kockum, I.; Nordenskjold, A.

    2015-01-01

    Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a previous genome-wide scan for familial hypospadias, we reported suggestive linkage in nine chromosomal regions. We have extended this analysis by

  13. The impact of recurrent throat infection on children and their families.

    Science.gov (United States)

    Howel, Denise; Webster, Simon; Hayes, Jane; Barton, Andrew; Donaldson, Liam

    2002-06-01

    Recurrent throat problems in children are common and have an impact on the family. The appropriateness of surgery will depend on both clinical and social factors. The aim of this study was to assess the impact on the whole family when a child is suffering from recurrent throat problems, and investigate related parental attitudes. A total of 1190 parents of children in northern England for whom tonsillectomy or adeno-tonsillectomy was a possible treatment option were sent a questionnaire covering social and clinical issues such as children's symptoms, the impact on family life and parental attitudes. The majority of children had experienced more than four episodes in the previous year, had their sleep affected and time off school. Most parents were worried and reported disruption to the family, including taking time off work and cross-infection. Parental disruption, worry and eagerness for surgery were significantly associated with the duration of episodes of throat problems and the number of episodes in the previous year, but not with duration of tonsillitis. Time off school, or parental time off work was significantly associated with parental worry and disruption, but not with eagerness for surgery. This work highlights the impact of recurrent throat problems and related parental attitudes, and will aid in striking a balance between clinical requirements and the needs and wishes of the family.

  14. Previously unreported abnormalities in Wolfram Syndrome Type 2.

    Science.gov (United States)

    Akturk, Halis Kaan; Yasa, Seda

    2017-01-01

    Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before. © Polish Society for Pediatric Endocrinology and Diabetology.

  15. Outcomes of a Multi-Component Family Enrichment Project: 12-Month Follow-up

    Directory of Open Access Journals (Sweden)

    Sara Anne Tompkins

    2014-02-01

    Full Text Available Previous research has established that family enrichment programs work with a variety of populations (e.g., Hawkins, Stanley, Blanchard, & Albright, 2012. It is unclear if a multi-component program focusing on a variety of family outcomes can lead to lasting change. This study used growth modeling to examine effects of relationship (i.e., Within My Reach, parenting (i.e., Making Parenting a Pleasure, and financial enrichment (i.e., Spend Some, Save Some, Share Some classes over 12 months. Results revealed improvement in family functioning at one year post for all three programs. Program specific improvements included relationship functioning and parenting alliance. Program participants reported overall satisfaction and gaining of valuable skills. Findings suggest these family enrichment programs can have long-lasting effects; potential reasons for sample success and implications are discussed.

  16. The -(α)(5.2) Deletion Detected in a Uruguayan Family: First Case Report in the Americas.

    Science.gov (United States)

    Soler, Ana María; Schelotto, Magdalena; de Oliveira Mota, Natalia; Dorta Ferreira, Roberta; Sonati, Maria de Fatima; da Luz, Julio Abayubá

    2016-08-01

    In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -(α)(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -(α)(5.2) deletion in heterozygous state. We report here the presence of the -(α)(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.

  17. Attending to the role of race/ethnicity in family violence research.

    Science.gov (United States)

    Malley-Morrison, Kathleen; Hines, Denise A

    2007-08-01

    Since the 1970s, researchers and public health and/or social policy communities have devoted increasing attention to family violence. Although officially reported crime figures for family violence appear to be declining, rates continue to be high in broadly defined racial and/or ethnic minority groups. More careful assessments of the potential role of race/ethnicity in family violence, and similarities and differences occurring across and within groups categorized based on race/ethnicity, are essential if adequate interventions are to be developed and utilized. This article provides suggestions on conducting better studies on family violence in the United States, particularly with respect to issues of race/ethnicity. The authors begin by considering conceptions and definitions of race/ethnicity and providing a broad definition of family violence. They then suggest issues for consideration at each stage of the research process, from reviewing previous research, to making methodological decisions, selecting samples, choosing measures, and analyzing and interpreting findings.

  18. Mental health and family relations among people who inject drugs and their family members in Vietnam.

    Science.gov (United States)

    Li, Li; Tuan, Nguyen Anh; Liang, Li-Jung; Lin, Chunqing; Farmer, Shu C; Flore, Martin

    2013-11-01

    This article explores the association of people who inject drugs and their family members in terms of mental health and family relations. The objective was to understand the family context and its impact on people who inject drugs in a family-oriented culture in Vietnam. Cross-sectional assessment data were gathered from 83 people who inject drugs and 83 of their family members recruited from four communes in Phú Thọ province, Vietnam. Depressive symptoms and family relations were measured for both people who inject drugs and family members. Internalized shame and drug-using behavior were reported by people who inject drugs, and caregiver burden was reported by family members. We found that higher level of drug using behavior of people who inject drugs was significantly associated with higher depressive symptoms and lower family relations reported by themselves as well as their family members. Family relations reported by people who inject drugs and their family members were positively correlated. The findings highlight the need for interventions that address psychological distress and the related challenges faced by family members of people who inject drugs. The article has policy implication which concludes with an argument for developing strategies that enhance the role of families in supporting behavioral change among people who inject drugs. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. Family members' unique perspectives of the family: examining their scope, size, and relations to individual adjustment.

    Science.gov (United States)

    Jager, Justin; Bornstein, Marc H; Putnick, Diane L; Hendricks, Charlene

    2012-06-01

    Using the McMaster Family Assessment Device (Epstein, Baldwin, & Bishop, 1983) and incorporating the perspectives of adolescent, mother, and father, this study examined each family member's "unique perspective" or nonshared, idiosyncratic view of the family. We used a modified multitrait-multimethod confirmatory factor analysis that (a) isolated for each family member's 6 reports of family dysfunction the nonshared variance (a combination of variance idiosyncratic to the individual and measurement error) from variance shared by 1 or more family members and (b) extracted common variance across each family member's set of nonshared variances. The sample included 128 families from a U.S. East Coast metropolitan area. Each family member's unique perspective generalized across his or her different reports of family dysfunction and accounted for a sizable proportion of his or her own variance in reports of family dysfunction. In addition, after holding level of dysfunction constant across families and controlling for a family's shared variance (agreement regarding family dysfunction), each family member's unique perspective was associated with his or her own adjustment. Future applications and competing alternatives for what these "unique perspectives" reflect about the family are discussed. PsycINFO Database Record (c) 2012 APA, all rights reserved.

  20. Family Members' Unique Perspectives of the Family: Examining their Scope, Size, and Relations to Individual Adjustment

    Science.gov (United States)

    Jager, Justin; Bornstein, Marc H.; Diane, L. Putnick; Hendricks, Charlene

    2012-01-01

    Using the Family Assessment Device (FAD; Epstein, Baldwin, & Bishop, 1983) and incorporating the perspectives of adolescent, mother, and father, this study examined each family member's “unique perspective” or non-shared, idiosyncratic view of the family. To do so we used a modified multitrait-multimethod confirmatory factor analysis that (1) isolated for each family member's six reports of family dysfunction the non-shared variance (a combination of variance idiosyncratic to the individual and measurement error) from variance shared by one or more family members and (2) extracted common variance across each family member's set of non-shared variances. The sample included 128 families from a U.S. East Coast metropolitan area. Each family member's unique perspective generalized across his or her different reports of family dysfunction and accounted for a sizable proportion of his or her own variance in reports of family dysfunction. Additionally, after holding level of dysfunction constant across families and controlling for a family's shared variance (agreement regarding family dysfunction), each family member's unique perspective was associated with his or her own adjustment. Future applications and competing alternatives for what these “unique perspectives” reflect about the family are discussed. PMID:22545933

  1. Socio-economic position, family demands and reported health in working men and women.

    Science.gov (United States)

    Regidor, Enrique; Pascual, Cruz; de la Fuente, Luis; Santos, Juana M; Astasio, Paloma; Ortega, Paloma

    2011-02-01

    This study evaluates the extent to which domestic workload explains socio-economic differences in poor self-reported health in women and men. In total, 6284 men and women who were employed and living with a partner were selected from the 2003 Spanish Health Interview Survey. The indicators of family demands investigated were person responsible for housework, number of persons in the household and the presence of at least one child under 15 years of age in the household. The measures of socio-economic position were educational level and household income, and the measures of health status were poor perceived health and limitation of activity due to disease. Household size and presence of a child under 15 in the home were not related with the measures of health status. The indicator about the person who does the housework was related with poor perceived health and with activity limitation. Specifically, the worst health status was seen in respondents who lived in homes where the partner or other family members did the housework. In general, the relation between indicators of socio-economic position and measures of health status was not modified after taking into account the person who does the housework. Among working people with a partner, persons who work and do their own housework do not have poorer perceived health than those living in homes where other people do the housework. This indicator of family demands does not explain the socio-economic differences in self-reported health.

  2. Sex ratio at birth in India, its relation to birth order, sex of previous children and use of indigenous medicine.

    Directory of Open Access Journals (Sweden)

    Samiksha Manchanda

    Full Text Available OBJECTIVE: Sex-ratio at birth in families with previous girls is worse than those with a boy. Our aim was to prospectively study in a large maternal and child unit sex-ratio against previous birth sex and use of traditional medicines for sex selection. MAIN OUTCOME MEASURES: Sex-ratio among mothers in families with a previous girl and in those with a previous boy, prevalence of indigenous medicine use and sex-ratio in those using medicines for sex selection. RESULTS: Overall there were 806 girls to 1000 boys. The sex-ratio was 720:1000 if there was one previous girl and 178:1000 if there were two previous girls. In second children of families with a previous boy 1017 girls were born per 1000 boys. Sex-ratio in those with one previous girl, who were taking traditional medicines for sex selection, was 928:1000. CONCLUSION: Evidence from the second children clearly shows the sex-ratio is being manipulated by human interventions. More mothers with previous girls tend to use traditional medicines for sex selection, in their subsequent pregnancies. Those taking such medication do not seem to be helped according to expectations. They seem to rely on this method and so are less likely use more definitive methods like sex selective abortions. This is the first such prospective investigation of sex ratio in second children looked at against the sex of previous children. More studies are needed to confirm the findings.

  3. A confirmative clinimetric analysis of the 36-item Family Assessment Device.

    Science.gov (United States)

    Timmerby, Nina; Cosci, Fiammetta; Watson, Maggie; Csillag, Claudio; Schmitt, Florence; Steck, Barbara; Bech, Per; Thastum, Mikael

    2018-02-07

    The Family Assessment Device (FAD) is a 60-item questionnaire widely used to evaluate self-reported family functioning. However, the factor structure as well as the number of items has been questioned. A shorter and more user-friendly version of the original FAD-scale, the 36-item FAD, has therefore previously been proposed, based on findings in a nonclinical population of adults. We aimed in this study to evaluate the brief 36-item version of the FAD in a clinical population. Data from a European multinational study, examining factors associated with levels of family functioning in adult cancer patients' families, were used. Both healthy and ill parents completed the 60-item version FAD. The psychometric analyses conducted were Principal Component Analysis and Mokken-analysis. A total of 564 participants were included. Based on the psychometric analysis we confirmed that the 36-item version of the FAD has robust psychometric properties and can be used in clinical populations. The present analysis confirmed that the 36-item version of the FAD (18 items assessing 'well-being' and 18 items assessing 'dysfunctional' family function) is a brief scale where the summed total score is a valid measure of the dimensions of family functioning. This shorter version of the FAD is, in accordance with the concept of 'measurement-based care', an easy to use scale that could be considered when the aim is to evaluate self-reported family functioning.

  4. Leader-member exchange and work-family interactions: the mediating role of self-reported challenge- and hindrance-related stress.

    Science.gov (United States)

    Culbertson, Satoris S; Huffman, Ann H; Alden-Anderson, Rachel

    2010-01-01

    The authors examined the relations among 4 components of the leader-member exchange (LMX) relationship (i.e., contribution, affect, loyalty, and professional respect) and the level of work-family conflict and work-family facilitation that an employee experiences. Further, the authors examined the mediating role of challenge- and hindrance-related self-reported stress on relations. In doing this, the authors linked positive and negative aspects of LMX, stressors, work-family conflict, and work-family facilitation. Data from a sample of full-time employed individuals support some hypothesized relations between components of LMX and work-family interactions. Also, results support the mediating role of hindrance-related stress in the relation between (a) the affect and loyalty components of LMX and (b) work-family conflict. The authors discuss the implications and limitations of their findings.

  5. Responding to families with complex needs: a national survey of child and family health nurses.

    Science.gov (United States)

    Rossiter, Chris; Schmied, Virginia; Kemp, Lynn; Fowler, Cathrine; Kruske, Sue; Homer, Caroline S E

    2017-02-01

    The aim of this study was to explore the extent to which Australian child and family health nurses work with families with complex needs and how their practice responds to the needs of these families. Many families with young children face challenges to their parenting capacity, potentially placing their children at risk of poorer developmental outcomes. Nurses increasingly work with families with mental health problems, trauma histories and/or substance dependence. Universal child health services must respond effectively to these challenges, to address health inequalities and to promote the best outcomes for all children and families. The descriptive study used cross-sectional data from the first national survey of child and family health nurses in Australia, conducted during 2011. Survey data reported how often, where and how child and family health nurses worked with families with complex needs and their confidence in nursing tasks. Many, but not all, of the 679 respondents saw families with complex needs in their regular weekly caseload. Child and family health nurses with diverse and complex caseloads reported using varied approaches to support their clients. They often undertook additional professional development and leadership roles compared with nurses who reported less complex caseloads. Most respondents reported high levels of professional confidence. For health services providing universal support and early intervention for families at risk, the findings underscore the importance of appropriate education, training and support for child and family health professionals. The findings can inform the organization and delivery of services for families in Australia and internationally. © 2016 John Wiley & Sons Ltd.

  6. Work-Family Conflict and the Perception of Departmental and Institutional Work-Family Policies in Collegiate Athletic Trainers

    Science.gov (United States)

    Godek, Michelle M.

    2012-01-01

    Employees throughout the United States struggle to balance their work and family commitments, in part because the workforce makeup has changed significantly over the last half century. The evolving family structure also has contributed to this struggle. This research seeks to build on previous work-family literature by incorporating the six…

  7. Family Size, Interaction, Affect and Stress

    Science.gov (United States)

    Nye, F. Ivan; And Others

    1970-01-01

    Synthesizes previous research on relationship of family size to attitudes. Reduces findings to four propositions and submits these propositions to additional tests utilizing secondary data from two large surveys. Substantively, families of three or four children rank lower in all of the analyses than do families with one or two children. Presented…

  8. CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma.

    Science.gov (United States)

    Korpi-Hyövälti, Eeva; Cranston, Treena; Ryhänen, Eeva; Arola, Johanna; Aittomäki, Kristiina; Sane, Timo; Thakker, Rajesh V; Schalin-Jäntti, Camilla

    2014-09-01

    CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma. It has also been suggested that CDC73 deletion analysis should be performed in those patients without CDC73 mutations. To investigate for CDC73 deletion in a family with FIHP previously reported not to have CDC73 mutations. Eleven members (six affected with primary hyperparathyroidism and five unaffected) were ascertained from the family, and multiplex ligation-dependent probe amplification was performed to detect CDC73 deletion using leukocyte DNA. A previously unreported deletion of CDC73 involving exons 1-10 was detected in five affected members and two unaffected members who were 26 and 39 years of age. Two affected members had parathyroid carcinomas at the ages of 18 and 32 years, and they had Ki-67 proliferation indices of 5 and 14.5% and did not express parafibromin, encoded by CDC73. Primary hyperparathyroidism in the other affected members was due to adenomas and atypical adenomas, and none had jaw tumors. Two affected members had thoracic aortic aneurysms, which in one member occurred with parathyroid carcinoma and renal cysts. A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with FIHP, due to adenomas, atypical adenomas, and parathyroid carcinomas. In addition, two affected males had thoracic aortic aneurysms, which may represent another associated clinical feature of this disorder.

  9. Known glioma risk loci are associated with glioma with a family history of brain tumours

    DEFF Research Database (Denmark)

    Melin, Beatrice; Dahlin, Anna M; Andersson, Ulrika

    2013-01-01

    significantly associated with glioma risk, rs6010620 (ORtrend for the minor (A) allele, 0.39; 95% CI: 0.25-0.61; Bonferroni adjusted ptrend , 1.7 × 10(-4) ). In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs6010620 (RTEL1) was associated with an increased risk...... family history of brain tumours, defined as having at least one first- or second-degree relative with a history of brain tumour, are associated with known glioma risk loci. One thousand four hundred and thirty-one glioma cases and 2,868 cancer-free controls were identified from four case-control studies...... and two prospective cohorts from USA, Sweden and Denmark and genotyped for seven SNPs previously reported to be associated with glioma risk in case-control designed studies. Odds ratios were calculated by unconditional logistic regression. In analyses including glioma cases with a family history of brain...

  10. Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Ripa, Rasmus S; Bülow, Steffen

    2004-01-01

    Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost...... 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic...

  11. Beyond the genetic basis of sensation seeking: The influence of birth order, family size and parenting styles

    Directory of Open Access Journals (Sweden)

    Feij, Jan A,

    2010-12-01

    Full Text Available Genetic analyses of sensation seeking have shown fairly high heritabilities for measures of this trait. However, 40 to 60% of the variance remains unexplained by genetic factors. This longitudinal study examines the influence of characteristics of the family environment -- birth order, family size, socio-economic status and parenting styles -- on two dimensions of sensation seeking: disinhibition and boredom susceptibility. Previous research has shown that these dimensions load on the same factor, are related to biologically based impulsive disorders, and have a common genetic basis. Questionnaire and biographical data obtained from 532 female and 479 male young adults (age between 18 and 30 years were analyzed using structural modeling. The results show that participants who experienced little parental care and much control were more likely to have high scores on disinhibition and boredom susceptibility. It appears that these family factors may partly explain the previously reported effects of birth order and family size on sensation seeking.

  12. Wives without husbands: gendered vulnerability to sexually transmitted infections among previously married women in India.

    Science.gov (United States)

    Walters, Kimberly; Dandona, Rakhi; Walters, Lawrence C; Lakshmi, Vemu; Dandona, Lalit; Schneider, John A

    2012-01-01

    Using population-based and family structural data from a high HIV-prevalence district of Southern India, this paper considers four suggested social scenarios used to explain the positive correlation between HIV prevalence and previously married status among Indian women: (1) infection from and then bereavement of an infected husband; (2) abandonment after husbands learn of their wives' HIV status; (3) economic instability after becoming previously married, leading women to seek financial support through male partners; and (4) the social status of being previously married exposing women to sexual harassment and predation. By also considering seroprevalence of two other common sexually transmitted infections (STIs), herpes and syphilis, in a combined variable with HIV, we limit the likelihood of the first two scenarios accounting for the greater part of this correlation. Through a nuanced analysis of household residences patterns (family structure), standard of living, and education, we also limit the probability that scenario three explains a greater portion of the correlation. Scenario four emerges as the most likely explanation for this correlation, recognizing that other scenarios are also possible. Further, the interdisciplinary literature on the social position of previously married women in India strongly supports the suggestion that, as a population, previously married women are sexually vulnerable in India. Previously married status as an STI risk factor requires further biosocial research and warrants concentrated public health attention.

  13. Family profiles in eating disorders: family functioning and psychopathology

    Directory of Open Access Journals (Sweden)

    Cerniglia L

    2017-10-01

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

  14. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  15. The Family Contexts of Children's Sibling Relationships.

    Science.gov (United States)

    McHale, Susan M.; Crouter, Ann C.

    1996-01-01

    Unlike much previous research on sibling relationships, which emphasizes the congruence across various types of family experiences, the research described in this article explored between-family differences in patterns of experiences within families. The work is built upon Bronfenbrenner's ecological model and Magnusson's interactional…

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

    Science.gov (United States)

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

    2012-10-01

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

  17. Impact of prior ICU experience on ICU patient family members' psychological distress: A descriptive study.

    Science.gov (United States)

    Lewis, Chrystal L; Taylor, Jessica Z

    2017-12-01

    To determine if current levels of anxiety, depression and acute stress disorder symptoms differ significantly among family members of intensive-care-unit patients depending upon previous intensive-care experience. This study used a prospective, descriptive study design. Family members (N=127) from patients admitted within a 72-hour timeframe to the medical, surgical, cardiac and neurological intensive care units were recruited from waiting rooms at a medium-sized community hospital in the Southeastern United States. Participants completed the Hospital Anxiety and Depression Scale, the Impact of Events Scale-Revised, the Acute Stress Disorder Scale and a demographic questionnaire. A multivariate analysis revealed that family members of intensive-care-unit patients with a prior intensive-care experience within the past two years (n=56) were significantly more likely to report anxiety, depression and acute stress symptoms, Λ=0.92, F [4122]=2.70, p=0.034, partial η 2 =0.08, observed power=0.74. Results of this study show that family members' psychological distress is higher with previous familial or personal intensive-care experience. Nurses need to assess for psychological distress in ICU family members and identify those who could benefit from additional support services provided in collaboration with multidisciplinary support professionals. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. Parenting styles and child behavior in African American families of preschool children.

    Science.gov (United States)

    Querido, Jane G; Warner, Tamara D; Eyberg, Sheila M

    2002-06-01

    Examined the relations between parenting styles and child behavior problems in African American preschool children. Participants were 108 African American female caregivers of 3- to 6-year-old children. Correlational analysis showed that parent-reported child behavior problems were associated with maternal education, family income, and parents' endorsement of authoritative parenting, authoritarian parenting, and permissive parenting. Hierarchical regression analysis showed that the authoritative parenting style was most predictive of fewer child behavior problems. These results are consistent with previous findings with European American families and provide strong support for the cross-cultural validity of the authoritative parenting style.

  19. Family environment patterns in families with bipolar children.

    Science.gov (United States)

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

    2008-04-01

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

  20. Prune belly syndrome in a set of twins, a family tragedy: Case report ...

    African Journals Online (AJOL)

    We report prune belly syndrome, a rare congenital malformation, in a set of twins delivered to a young couple with a history of three previous first trimester spontaneous abortions, discordant HIV seropositivity and antenatal ultrasound report that indicated renal abnormalities in only one of the twins. The challenges of ...

  1. The Role of Rigidity in Adaptive and Maladaptive Families Assessed by FACES IV: The Points of View of Adolescents.

    Science.gov (United States)

    Everri, Marina; Mancini, Tiziana; Fruggeri, Laura

    Previous studies using Olson's Circumplex Model and FACES IV, the self-report assessing family functioning, did not clarify the role of rigidity, a dimension of this model. Rigidity emerged as ambiguous: it was considered either as a functional or as a dysfunctional dimension. Building upon the results of previous studies, we provided a contribution intended to disambiguate the role of rigidity considering adolescents' perceptions and using a non-a priori classification analysis. 320 Italian adolescents (13-21 years) participated in this study and responded to a questionnaire containing scales of the study variables. A latent class analysis was performed to identify the association of rigidity with the other dimensions of Olson's model and with indicators of adaptive family functioning in adolescence: parental monitoring and family satisfaction. We found six clusters corresponding to family typologies and having different levels of functioning. Rigidity emerged as adaptive in the typologies named rigidly balanced and flexibly oscillating; it was associated with positive dimensions of family functioning, i.e. flexibility, cohesion, parental monitoring, and high levels of family satisfaction. Differently, when rigidity was associated with disengagement, low cohesion and flexibility, and lack of parental supervision, emerged as maladaptive. This was the case of two typologies: the rigidly disengaged and the chaotically disengaged. Adolescents of these families reported the lowest levels of satisfaction. In the two last typologies, the flexibly chaotic and the cohesively disorganized, rigidity indicated a mid-range functionality as these families were characterized by emotional connectedness but lack of containment. Clinical implications are discussed.

  2. Adoption status and family relationships during the transition to young adulthood.

    Science.gov (United States)

    Walkner, Amy J; Rueter, Martha A

    2014-12-01

    Although adoptive family research has increased, most has focused on childhood and adolescence. Despite the known importance of parent-adolescent relationships drawn from the general population, we know little about how adoptive family relationships change or remain the same as adopted adolescents enter young adulthood. Using the Sibling Interaction and Behavior Study, the purpose of this study was to build on previous research to explore differences in conflict, closeness, and relationship quality between adoptive and nonadoptive families during the transition from late adolescence into young adulthood. Self-report and independent observations were collected from children, mothers, and fathers at late adolescence (range: 14.50-18.49 years) and young adulthood (range:18.50-22.49 years), and analyzed using within-subjects repeated measures. Although adoptive family dyads had lower relationship indicators than nonadoptive family dyads, similar trends over time occurred for both family types. Using individuation theory, we suggest individuation occurs for both types of families, with adoptees facing unique additional challenges during this process, including integration of adoption status, adoption communicativeness, adoption information seeking, and relationship with birth parents as possible influences in this process.

  3. Emotional, developmental, and behavioral health of American children and their families: a report from the 2003 National Survey of Children's Health.

    Science.gov (United States)

    Blanchard, Laura T; Gurka, Matthew J; Blackman, James A

    2006-06-01

    Recent children's health surveys have documented a high prevalence of emotional, developmental, and behavioral problems among children. Data from the 2003 National Survey of Children's Health provide new insights into these problems and their association with family function and community participation. These issues have become a current focus of the World Health Organization. Answers to questions of interest from the 2003 National Survey of Children's Health were reported using estimates and SEs of rates. Statistical comparisons of rates with chi2 tests at the 0.05 level were made when relevant. The most commonly diagnosed problems among children 6-17 years of age were learning disabilities (11.5%), attention-deficit/hyperactivity disorder (8.8%), and behavioral problems (6.3%); among preschoolers, speech problems (5.8%) and developmental delay (3.2%) were most common. One in 200 children was diagnosed with autism. In contrast, rates of parental concerns about emotional, developmental, or behavioral problems were much higher; for example, 41% of parents had concerns about learning difficulties and 36% about depression or anxiety. Children with developmental problems had lower self-esteem, more depression and anxiety, more problems with learning, missed more school, and were less involved in sports and other community activities. Their families experienced more difficulty in the areas of childcare, employment, parent-child relationships, and caregiver burden. The most recent National Survey of Children's Health mirrored results of previous surveys regarding rates of diagnosed emotional, developmental, and behavioral problems, including an escalating diagnosis of autism among children. Reported rates of parental concerns about these problems were much higher, suggesting possible underdiagnosis of children's problems. Children with chronic problems had diminished family functioning, more school absences, and less participation in community activities compared with

  4. Spousal Support and Work--Family Balance in Launching a Family Business

    Science.gov (United States)

    Gudmunson, Clinton G.; Danes, Sharon M.; Werbel, James D.; Loy, Johnben Teik-Cheok

    2009-01-01

    This study examines whether emotional spousal support contributes to business owners' perceived work-family balance while launching a family business. Hobfoll's Conservation of Resources theory of stress is applied to 109 family business owners and their spouses. Results from structural equation models support several hypotheses. First, reports of…

  5. Women, Higher Education and Family Capital: "I Could Not Have Done It without My Family!"

    Science.gov (United States)

    Webber, Louise Anne

    2017-01-01

    Previous research suggests that through engagement with higher education (HE), mature female students experience identity change and transformation which could lead to conflict and strain on family relationships. This paper analyses the links between family support and students' feelings of success. The findings are based on qualitative research…

  6. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  7. Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation

    Energy Technology Data Exchange (ETDEWEB)

    Ketterling, R.P.; Vielhaber, E.; Bottema, C.D.K.; Schaid, D.J.; Sommer, S.S. (Mayo Clinic/Foundation, Rochester, MN (United States)); Cohen, M.P. (Vanderbilt Univ., Nashville, TN (United States)); Sexauer, C.L. (Children' s Hospital, Oklahoma City, OK (United States))

    1993-01-01

    Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, the authors report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by them, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males. 62 refs., 1 fig., 5 tabs.

  8. Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis

    DEFF Research Database (Denmark)

    LaBianca, Sonja; Jensen, Rigmor; van den Maagdenberg, Arn M J M

    2015-01-01

    Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with motor aura. We present a case report of a father and son with very similar attacks of hemiplegic migraine and recurrent episodes of accompanying psychoses. Previously, such episodes led to hospitalization...... and extended clinical examinations, which further worsened the psychoses. Since the episodes were recognized as related to the hemiplegic migraine, a treatment strategy combining sleep and sedation was initiated and progression onto psychosis was almost completely avoided in both father and son. Genetic...

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

    Science.gov (United States)

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

    2014-05-01

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

  10. Gestational Diabetes in Korea: Incidence and Risk Factors of Diabetes in Women with Previous Gestational Diabetes

    Directory of Open Access Journals (Sweden)

    Hak Chul Jang

    2011-02-01

    Full Text Available Korean women with a history of gestational diabetes mellitus (GDM have a 3.5 times greater risk of developing postpartum diabetes than the general population. The incidence of type 2 diabetes mellitus in early postpartum is reported as 10-15% in Korean women. A prospective follow-up study on Korean women with GDM showed that approximately 40% of women with previous GDM were expected to develop diabetes within 5 years postpartum. Independent risk factors for the development of diabetes in Korean women with previous GDM are pre-pregnancy body weight, gestational age at diagnosis, antepartum hyperglycemia on oral glucose tolerance test, low insulin response to oral glucose load, and family history of diabetes. Women with postpartum diabetes have greater body mass indexes, body weight, and waist circumferences than women with normal glucose tolerance. Multiple logistic regression analysis has revealed that waist circumference is the strongest obesity index along with systolic blood pressure and that triglyceride levels are a major independent risk factor for developing diabetes. These results in Korean women with previous GDM underline the importance of postpartum testing in Korean women diagnosed with GDM, and demonstrate that impaired B-cell function, obesity, and especially visceral obesity, are associated with the development of diabetes.

  11. Variability of hemodynamic parameters in young healthy subjects with and without hypertensive family history

    International Nuclear Information System (INIS)

    Palombo, C.; Michelassi, C.; Ghione, S.

    1987-01-01

    In order to assess the short-term variability of the hemodynamic pattern in healthy normal subjects, Transcutaneous Aortovelography, a continuous wave Doppler technique, was performed in 17 normotensive males, 11 with and 6 without hypertensive family history and repeated after 30'. Reproducibility of measurements in the whole sample was comparable with previous observation reported in literature, but in the group with a positive family history of hypertension the reproducibility of most parameters was lower than in the other, suggesting the existence of a greater hemodynamic variability in normotensive offspring of hypertensive parents

  12. The association between retirement and emotional well-being: does prior work-family conflict matter?

    Science.gov (United States)

    Coursolle, Kathryn M; Sweeney, Megan M; Raymo, James M; Ho, Jeong-Hwa

    2010-09-01

    This study investigates whether the association between retirement and emotional well-being depends on prior experience of work-family conflict. We use data from the 1993 and 2004 waves of the Wisconsin Longitudinal Study to estimate linear regression models of 2 dimensions of emotional well-being-depressive symptoms and positive psychological functioning. We also use fixed effects models to investigate whether key findings persist after controlling for stable, but unobserved, characteristics of individuals. Retirement is associated with relatively fewer depressive symptoms among individuals who reported high levels of work stress interfering with family life in late midlife. We find suggestive evidence of a similar association with respect to positive psychological functioning after accounting for unobserved characteristics of individuals. Among individuals reporting high levels of family stress spillover into work life at late midlife, our results suggest that retirement tends to be associated with better emotional well-being among men than among women. Retirement may come more as a relief than as a stressor for individuals previously experiencing high levels of work demands interfering with family life. However, particularly among women, retirement may not relieve the burdens of family life stressors.

  13. Familial atypical multiple mole melanoma syndrome in an adult Indian male-case report and literature review

    Directory of Open Access Journals (Sweden)

    Radhika C G Raj

    2015-01-01

    Full Text Available Familial atypical multiple mole melanoma syndrome (FAMMMS is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi, usually more than 50, and a family history of melanoma. It is known to be associated with carcinoma of pancreas and other malignancies involving gastrointestinal tract, breast, lung, larynx, and skin in the kindred. There is no published report of FAMMMS in dark-skinned individuals. We report a case of FAMMMS in a dark-skinned adult Indian male, who had multiple extensive nevi all over the body and oral mucosa; associated with malignant melanoma, squamous cell carcinoma (Marjolin′s ulcer, and carcinoma of pancreas. His father had died of carcinoma of lung and his sister had a partial phenotypic expression. The clinical presentation of the case is discussed with review of literature.

  14. Race and Gender Differences in One-Year Outcomes for Community-Dwelling Stroke Survivors with Family Caregivers

    Science.gov (United States)

    Roth, David L.; Haley, William E.; Clay, Olivio J.; Perkins, Martinique; Grant, Joan S.; Rhodes, J. David; Wadley, Virginia G.; Kissela, Brett; Howard, George

    2011-01-01

    Background and Purpose Previous research has reported worse outcomes after stroke for women and for African Americans, but few prospective, population-based studies have systematically examined demographic differences on long-term stroke outcomes. Race and gender differences on one-year stroke outcomes were examined using an epidemiologically-derived sample of first-time stroke survivors from the national REasons for Geographic and Racial Differences in Stroke (REGARDS) study. Methods Participants of REGARDS who reported a first-time stroke event during regular surveillance calls were interviewed by telephone and then completed an in-home evaluation approximately one year after the verified first-time stroke event (N = 112). A primary family caregiver was also enrolled and interviewed for each stroke survivor. Measures from the in-home evaluation included previously validated stroke outcomes assessments of neurological deficits, functional impairments, and patient-reported effects of stroke in multiple domains. Results African American stroke survivors were less likely to be living with their primary family caregivers than White participants. Analyses that controlled for age, education, and whether the stroke survivors lived with their primary family caregivers indicated that African Americans and women showed significantly greater deficits on multiple one-year outcome measures compared to Whites and men, respectively. Conclusions Among community-dwelling stroke survivors with family caregivers, women and African Americans are at heightened risk for poor long-term outcomes one year after first-time stroke events. Rehabilitation services and public health policies aimed at enhancing stroke recovery rates should address these disparities in post-stroke outcomes. PMID:21257820

  15. Internationalisation and performance in Spanish family SMES: The W-curve

    Directory of Open Access Journals (Sweden)

    Marta Fernández-Olmos

    2016-04-01

    Full Text Available Previous studies have provided mixed evidence on the relationship between internationalisation and firm performance. We advance theoretically in this line of research by investigating the impact of the family dimension of a business on this relationship. Using a panel data analysis for the 2006–2011 period, we find empirically that Spanish family SMEs follow a W-curve. Our findings highlight the importance of differentiating family from non-family firms, and provide a potential explanation for the previous mixed evidence.

  16. Laughter is not always funny: breath-holding spells in familial dysautonomia.

    Science.gov (United States)

    Maayan, Channa; Katz, Eliot; Begin, Michal; Yuvchev, Ivelin; Kharasch, Virginia S

    2015-02-01

    Familial dysautonomia (FD) is a genetic disease characterized by primary autonomic dysfunction including parasympathetic hypersensitivity. Breath-holding spells (BHS) are believed to be caused by autonomic dysregulation mediated via the vagus nerve and increased in patients with a family history of BHS. Details and understanding of its pathophysiology are lacking. In this retrospective study of patients with FD, the incidence of BHS was higher at 53.3%, compared with previous studies in normal children. Laughter as a precipitating factor for BHS has not been previously reported in FD and occurred in 10% of patients in this study. Lower lung volumes, chronic lung disease, chronic CO2 retention, and inadequate autonomic compensation occur in those with FD leading to a higher incidence and severity of BHS when crying or laughing. Thus, FD may be a good model for understanding manifestations of the autonomic nervous system dysfunction and contribute to our knowledge of BHS mechanisms. © The Author(s) 2014.

  17. Conference report: Undergraduate family medicine and primary care training in Sub-Saharan Africa: Reflections of the PRIMAFAMED network

    Directory of Open Access Journals (Sweden)

    Innocent Besigye

    2017-01-01

    Full Text Available Internationally, there is a move towards strengthening primary healthcare systems and encouraging community-based and socially responsible education. The development of doctors with an interest in primary healthcare and family medicine in the African region should begin during undergraduate training. Over the last few years, attention has been given to the development of postgraduate training in family medicine in the African region, but little attention has been given to undergraduate training. This article reports on the 8th PRIMAFAMED (Primary Care and Family Medicine Education network meeting held in Nairobi from 21 to 24 May 2016. At this meeting the delegates spent time presenting and discussing the current state of undergraduate training at 18 universities in the region and shared lessons on how to successfully implement undergraduate training. This article reports on the rationale for, information presented, process followed and conclusions reached at the conference.

  18. Pityriasis Rotunda: A Case Report of Familial Disease in an American-Born Black Patient

    Directory of Open Access Journals (Sweden)

    Emily G. Lefkowitz

    2016-03-01

    Full Text Available Pityriasis rotunda is an uncommon dermatosis with an unusual geographic and racial distribution. The skin disorder is characterized by sharply defined, perfectly circular, scaly patches with no inflammatory changes. Notably, it may be associated with underlying malignancy or chronic infection. We report an uncommon familial case in an American-born female.

  19. Behavior Problems Among Adolescents Exposed to Family and Community Violence in Chile.

    Science.gov (United States)

    Ma, Julie; Grogan-Kaylor, Andrew; Delva, Jorge

    2016-07-01

    Research that simultaneously examines the relationship of multiple types of family and community violence with youth outcomes is limited in the previous research literature, particularly in Latin America. This study examined the relationship of youth exposure to family and community violence-parental use of corporal punishment, violence in the community, intimate partner physical aggression-with eight subscales of the Youth Self Report among a Chilean sample of 593 youth-mother pairs. Results from multilevel models indicated a positive association between youth exposure to violence in the family and community, and a wide range of behavior problem outcomes, in particular, aggression. With growing evidence concerning the detrimental effect of violence on youth's well-being, these findings highlight the need for a more comprehensive understanding of the various kinds of violence youth are exposed to within the family and community and the concomitant need to reduce multiple forms of violence.

  20. Behavior Problems Among Adolescents Exposed to Family and Community Violence in Chile

    Science.gov (United States)

    Ma, Julie; Grogan-Kaylor, Andrew; Delva, Jorge

    2016-01-01

    Research that simultaneously examines the relationship of multiple types of family and community violence with youth outcomes is limited in the previous research literature, particularly in Latin America. This study examined the relationship of youth exposure to family and community violence—parental use of corporal punishment, violence in the community, intimate partner physical aggression—with eight subscales of the Youth Self Report among a Chilean sample of 593 youth-mother pairs. Results from multilevel models indicated a positive association between youth exposure to violence in the family and community, and a wide range of behavior problem outcomes, in particular, aggression. With growing evidence concerning the detrimental effect of violence on youth’s well-being, these findings highlight the need for a more comprehensive understanding of the various kinds of violence youth are exposed to within the family and community and the concomitant need to reduce multiple forms of violence. PMID:27761057

  1. Crowdsourced direct-to-consumer genomic analysis of a family quartet.

    Science.gov (United States)

    Corpas, Manuel; Valdivia-Granda, Willy; Torres, Nazareth; Greshake, Bastian; Coletta, Alain; Knaus, Alexej; Harrison, Andrew P; Cariaso, Mike; Moran, Federico; Nielsen, Fiona; Swan, Daniel; Weiss Solís, David Y; Krawitz, Peter; Schacherer, Frank; Schols, Peter; Yang, Huangming; Borry, Pascal; Glusman, Gustavo; Robinson, Peter N

    2015-11-07

    We describe the pioneering experience of a Spanish family pursuing the goal of understanding their own personal genetic data to the fullest possible extent using Direct to Consumer (DTC) tests. With full informed consent from the Corpas family, all genotype, exome and metagenome data from members of this family, are publicly available under a public domain Creative Commons 0 (CC0) license waiver. All scientists or companies analysing these data ("the Corpasome") were invited to return results to the family. We released 5 genotypes, 4 exomes, 1 metagenome from the Corpas family via a blog and figshare under a public domain license, inviting scientists to join the crowdsourcing efforts to analyse the genomes in return for coauthorship or acknowldgement in derived papers. Resulting analysis data were compiled via social media and direct email. Here we present the results of our investigations, combining the crowdsourced contributions and our own efforts. Four companies offering annotations for genomic variants were applied to four family exomes: BIOBASE, Ingenuity, Diploid, and GeneTalk. Starting from a common VCF file and after selecting for significant results from company reports, we find no overlap among described annotations. We additionally report on a gut microbiome analysis of a member of the Corpas family. This study presents an analysis of a diverse set of tools and methods offered by four DTC companies. The striking discordance of the results mirrors previous findings with respect to DTC analysis of SNP chip data, and highlights the difficulties of using DTC data for preventive medical care. To our knowledge, the data and analysis results from our crowdsourced study represent the most comprehensive exome and analysis for a family quartet using solely DTC data generation to date.

  2. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Science.gov (United States)

    Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de Oliveira, João R. M.; Sobrido, María-Jesús

    2014-01-01

    Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient’s disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. PMID:23334463

  3. Implementing Trauma-Informed Partner Violence Assessment in Family Planning Clinics.

    Science.gov (United States)

    Decker, Michele R; Flessa, Sarah; Pillai, Ruchita V; Dick, Rebecca N; Quam, Jamie; Cheng, Diana; McDonald-Mosley, Raegan; Alexander, Kamila A; Holliday, Charvonne N; Miller, Elizabeth

    2017-09-01

    Intimate partner violence (IPV) and reproductive coercion (RC) are associated with poor reproductive health. Little is known about how family planning clinics implement brief IPV/RC assessment interventions in practice. We describe the uptake and impact of a brief, trauma-informed, universal IPV/RC assessment and education intervention. Intervention implementation was evaluated via a mixed methods study among women ages 18 and up receiving care at one of two family planning clinics in greater Baltimore, MD. This mixed methods study entailed a quasi-experimental, single group pretest-posttest study with family planning clinic patients (baseline and exit survey n = 132; 3-month retention n = 68; retention rate = 52%), coupled with qualitative interviews with providers and patients (total n = 35). Two thirds (65%) of women reported receiving at least one element of the intervention on their exit survey immediately following the clinic-visit. Patients reported that clinic-based IPV assessment is helpful, irrespective of IPV history. Relative to those who reported neither, participants who received either intervention element reported greater perceived caring from providers, confidence in provider response to abusive relationships, and knowledge of IPV-related resources at follow-up. Providers and patients alike described the educational card as a valuable tool. Participants described trade-offs of paper versus in-person, electronic medical record-facilitated screening, and patient reluctance to disclose current situations of abuse. In real-world family planning clinic settings, a brief assessment and support intervention was successful in communicating provider caring and increasing knowledge of violence-related resources, endpoints previously deemed valuable by IPV survivors. Results emphasize the merit of universal education in IPV/RC clinical interventions over seeking IPV disclosure.

  4. Family Structure and Eating Disorders: The Family Environment Scale and Bulimic-Like Symptoms.

    Science.gov (United States)

    Bailey, Carol A.

    1991-01-01

    Family variables derived from the Family Environment Scale are examined using data from 174 college women at a Pacific Northwest university and 2 universities in Houston (Texas) with varying degrees of bulimia. Subjects' self-reports indicate family dysfunctions, but the study illustrates the complexity of the family's role in bulimia. (SLD)

  5. Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

    International Nuclear Information System (INIS)

    Ng, B.H.K.; Pereira, J.K.; Ghedia, S.; Pinner, J.; Mowat, D.; Vonau, M.

    2006-01-01

    Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8-week-old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease

  6. Family members of patients with abdominal aortic aneurysms are at increased risk for aneurysms: analysis of 618 probands and their families from the Liège AAA Family Study.

    Science.gov (United States)

    Sakalihasan, Natzi; Defraigne, Jean-Olivier; Kerstenne, Marie-Ange; Cheramy-Bien, Jean-Paul; Smelser, Diane T; Tromp, Gerard; Kuivaniemi, Helena

    2014-05-01

    The objectives were to answer the following questions with the help of a well-characterized population in Liège, Belgium: 1) what percentage of patients with abdominal aortic aneurysm (AAA) have a positive family history for AAA? 2) what is the prevalence of AAAs among relatives of patients with AAA? and 3) do familial and sporadic AAA cases differ in clinical characteristics? Patients with unrelated AAA diagnosed at the Cardiovascular Surgery Department, University Hospital of Liège, Belgium, between 1999 and 2012 were invited to the study. A detailed family history was obtained in interviews and recorded using Progeny software. We divided the 618 patients into 2 study groups: group I, 296 patients with AAA (268; 91% men) were followed up with computerized tomography combined with positron emission tomography; and group II, 322 patients with AAA (295; 92% men) whose families were invited to ultrasonographic screening. In the initial interview, 62 (10%) of the 618 patients with AAA reported a positive family history for AAA. Ultrasonographic screening identified 24 new AAAs among 186 relatives (≥50 years) of 144 families yielding a prevalence of 13%. The highest prevalence (25%) was found among brothers. By combining the number of AAAs found by ultrasonographic screening with those diagnosed previously the observed lifetime prevalence of AAA was estimated to be 32% in brothers. The familial AAA cases were more likely to have a ruptured AAA than the sporadic cases (8% vs. 2.4%; P AAA among brothers, support genetic contribution to AAA pathogenesis, and provide rationale for targeted screening of relatives of patients with AAA. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2006-05-01

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

  8. A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature

    Directory of Open Access Journals (Sweden)

    Madison Budinich

    2016-12-01

    Full Text Available Introduction: Sagittal synostosis is a rare congenital disease caused by the premature fusion of the sagittal suture. Craniosynostosis occurs for a variety of reasons, different for every case, and often the etiology is unclear but the anomaly can frequently be seen as part of Crouzon's or Apert's syndromes. Herein, we discuss a rare case of craniosynostosis where the patient presented with a, to our knowledge, a previously undescribed variant of sagittal synostosis. Case report: A 3-month-old female infant presented to a craniofacial clinic for a consultation regarding an abnormal head shape. Images of the skull were performed, demonstrating that the patient had craniosynostosis. The patient displayed no other significant symptoms besides abnormalities in head shape. The sagittal suture was found to extend into the occipital bone where it was synostotic. Conclusion: To our knowledge, a synostotic sagittal suture has not been reported that extended posteriorly it involve the occipital bone. Those who interpret imaging or operate on this part of the skull should consider such a variation. Keywords: Anatomy, Craniosynostosis, Skull, Malformation, Pediatrics

  9. Hereditary gingival fibromatosis: A report of two cases in the same family

    Directory of Open Access Journals (Sweden)

    Vanali V Umrania

    2016-01-01

    Full Text Available Overgrowth of keratinized gingival tissues is a common condition and is described under variety of names. Causes of such enlargement can be medications, hereditary, and/or local irritating factors. Mutation in SOS1, son-of-sevenless gene, is thought to be responsible for hereditary gingival fibromatosis. This report shows a case of 19-year-old male and his 15-year-old sister, with a chief complaint of overgrowth of gingival and irregularly placed teeth. A similar overgrowth was also found in other members of the same family, without any drug history or syndromic conditions. An occurrence of the disease has been found in two generations of this family and therefore, it may be following autosomal dominant trait of inheritance. Since it is idiopathic and has a genetic cause for its occurrence, it cannot be prevented. Both cases underwent a surgical intervention to rectify the abnormality and were followed from 6 months to 1 year, during which there was no recurrence.

  10. The Interaction between Family Structure and Child Gender on Behavior Problems in Urban Ethnic Minority Children

    Science.gov (United States)

    Mokrue, Kathariya; Chen, Yung Y.; Elias, Maurice

    2012-01-01

    Previous studies have reported that children from single-parent households fare worse behaviorally than those from two-parent households. Studies examining single-parent households often fail to distinguish between single-mother and single-father households. Further, there are inconsistent findings regarding the effect of family structure on boys…

  11. Control Management and Business Performances: The Malaysian Family SMEs Perspectives

    Directory of Open Access Journals (Sweden)

    Edward Wong Sek Khin

    2015-06-01

    Full Text Available This study examined the relationship between control management and family business performance in the Malaysian context. It has two objectives, the first being to determine the relationship of organizational credit control policy and procedures, employee development and motivation, and intelligence collection systems to subsequent collection reports in Malaysian family SMEs. The second objective is to investigate the moderating effect of participation in decision-making and work effort towards innovation and business performance. This is a descriptive study involving 90 senior executives employed in 90 Malaysian family SMEs/firms. A correlation analysis from this study confirmed previous researchers’ observations that high-level organizational commitment to credit control management is linked to improvements in business performance. The results suggest that three components – credit policy, employee development, and intelligence collection systems – are the most important predictors for the efficiency and effectiveness of credit control management.    

  12. Papillon-Lefévre Syndrome: Report of Two Cases in a Family

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    C Vani

    2010-01-01

    Full Text Available This report presents two cases of Papillon-Lefévre syndrome (PLS affecting two girls among five siblings belonging to a south Indian Muslim family. The patients were 12 and 14 years old. The patients presented with palmar-plantar hyperkeratosis which started around the age of two years. The elder patient was edentulous due to severe destructive periodontitis causing premature loss of teeth. The younger patient had severe destructive periodontitis with multiple periodontal abscess and loose teeth.

  13. Perceptions of family members of palliative medicine and hospice patients who experienced music therapy.

    Science.gov (United States)

    Gallagher, Lisa M; Lagman, Ruth; Bates, Debbie; Edsall, Melissa; Eden, Patricia; Janaitis, Jessica; Rybicki, Lisa

    2017-06-01

    Evidence shows that music therapy aids in symptom management and improves quality of life for palliative medicine and hospice patients. The majority of previous studies have addressed patient needs, while only a few addressed the needs of family members. The primary purpose of this study was to understand family members' perceptions of music therapy experienced by a relative in palliative medicine or hospice. Patient self-reported scales and music therapist assessment of change were also investigated. Patients scored their symptoms (pain, anxiety, depression, shortness of breath, and mood) before and after music therapy sessions. One family member present during the session assessed perceived effect on the patient's pain, anxiety, depression, shortness of breath, stress level, restlessness, comfort level, mood, and quality of life. The effect on family member's stress level, quality of life, and mood and helpfulness of the music therapy session for the patient and self were studied. Recommendations about future patient participation in music therapy and qualitative comments were also solicited. Fifty family member/patient dyads participated in the study. Family member perceptions were positive, with 82% of responders indicating improvement for self and patient in stress, mood, and quality of life; 80% rating the session as extremely helpful; and 100% of 49 recommending further music therapy sessions for the patient. Patients reported statistically significant improvement in pain, depression, distress, and mood scores. Family members of patients in palliative medicine and hospice settings reported an immediate positive impact of music therapy on the patient and on themselves. More research needs to be conducted to better understand the benefits of music therapy for family members.

  14. America's Families and Living Arrangements: 2003. Population Characteristics. Current Population Reports. P20-553

    Science.gov (United States)

    Fields, Jason

    2004-01-01

    The data in this report is from the Annual Social and Economic Supplement (ASEC) to the 2003 Current Population Survey (CPS). The population represented (the population universe) in the ASEC is the civilian non institutionalized population living in the United States. Members of the Armed Forces living off post or with their families on post are…

  15. Report examines links among women's equality, smaller families, healthier children.

    Science.gov (United States)

    1997-06-01

    This article reports on a new study by Nancy Riley about the relationship between gender equality and fertility and mortality declines in developing countries. Findings indicate that mortality and fertility has declined in countries without gender equality. Fertility and child mortality decline is related to women's educational status and employment. Riley argues that women's power to make decisions about health care, contraception, and the timing and number of children, if affected by education and paid employment, is more likely to lower mortality and fertility. Women's power may decline in countries where women's education and employment are advanced, but their role in society remains that of mothers. All developing countries showed a relationship between the amount of education and family size and child health. Fertility tends to be lowest among highly educated women. However, women's education has a stronger effect on child health and mortality. Maternal education also affects child nutritional status. Women's education offers women the option of job opportunities and new values or ideas. Women's employment may result in increased resources and status or in poverty and heavy physical labor. Societal views of women's work may reflect an increased self-worth for working women or lower status or the failure of a husband to adequately provide for family welfare. The key to the impact of women's employment is whether work becomes a way to achieve greater power for women in decision making about child welfare and family planning. Employment outside the home educates. In most countries, women who worked for cash had fewer children, but differences in fertility between working and nonworking women range from small to large. Higher income for Nigerian women means more children. Women's work also has inconsistent effects on child health.

  16. Family therapy in treatment of the deaf: a case report.

    Science.gov (United States)

    Shapiro, R J; Harris, R I

    1976-03-01

    Deaf patients with psychological problems have developmental handicaps and clinical characteristics that reduce the effectiveness of traditional modes of psychotherapy. Attempts have been made to utilize individual and group therapy, but family therapy has been largely overlooked as a method of alleviating problems of the deaf. Clinical and research writings provide us with rich insights into the family dynamics of the deaf. These data suggest to the authors that the problems of deaf individuals are largely related to family problems, and therefore merit a family orientation as the focus for treatment. This paper describes an attempt to apply family therapy with a range of deaf patients over a period of two years. From a review of their work, the authors conclude that family therapy can be effective, particularly in the treatment of deaf adolescents and children.

  17. A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

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    Gianluigi Laccetta

    2017-11-01

    Full Text Available Sotos syndrome (SoS is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th–50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages. The patient showed neonatal jaundice, hypotonia, feeding difficulties, frequent vomiting, and gastroesophageal reflux. After the age of 6 months, his weight, length, and head circumference were above the 97th centile; psychomotor development was delayed. At the age of 9 years, the patient showed also joint laxity and scoliosis. DNA sequence analysis of NSD1 gene detected a novel heterozygous mutation (c.521T>A, p.Val174Asp in exon 2. The same mutant allele was also found in the mother and in the maternal grandfather of the proband; both the mother and the maternal grandfather of the proband showed isolated overgrowth with height above the 97th centile in absence of other features of SoS. At present 23 familial cases of SoS have been described (two cases with mutation in exon 2 of NSD1 gene; no familial cases of SoS with mutation of NSD1 gene and isolated overgrowth have been reported. Probably, point mutations of NSD1 gene, and particularly mutations between exon 20 and exon 23, are not likely to affect reproductive fitness. Epigenetic mechanisms and intrauterine environment may influence phenotypes, therefore genetic tests are not useful to predict the phenotype but they are indispensable for the diagnosis of SoS. This is the first Italian familial case of SoS with genetic confirmation and the third report in which a

  18. Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

    Science.gov (United States)

    Zamani, Ayse Gul; Acar, Aynur; Durakbasi-Dursun, Gul; Yildirim, M Selman; Ceylaner, Serdar; Tuncez, Ebru

    2014-05-01

    Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. © 2014 Wiley Periodicals, Inc.

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

    OpenAIRE

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

    2006-01-01

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

  20. Familial factors responsible for persistent crying-induced asthma: a case report.

    Science.gov (United States)

    Weinstein, A G

    1987-10-01

    Crying behavior of the asthmatic child may induce wheezing symptoms. This may be a clinical problem for families with asthmatic children who exhibit frequent and persistent crying behavior. This case report identifies behaviors by the child and parents that may be responsible for continual crying. Child factors include (1) "spoiled" personality, (2) poor self-image, (3) biologic sensitivity to foods, medication, and environmental allergens producing irritability. Parental factors include poor disciplinary practices secondary to (1) disrupted home life, (2) guilt, and (3) overprotective behavior. Identification of these factors may be helpful in establishing clinical management strategies to reduce crying-induced asthma.

  1. Family caregivers in rural Uganda: the hidden reality.

    Science.gov (United States)

    Kipp, Walter; Tindyebwa, Denis; Rubaale, Tom; Karamagi, Ednah; Bajenja, Ellen

    2007-01-01

    We conducted 16 in-depth interviews with family caregivers of AIDS patients in three rural districts in western Uganda. They were selected from a client visitation list of the home-based care program for AIDS patients, based on volunteer participation. Family caregivers reported huge problems associated with providing the necessary psychological, social, and economic care. They also said that the physical and emotional demands of caregiving are overwhelming daily challenges. Most support to AIDS patients provided by family, friends, and the churches. The study highlights the great burden of caregivers, in sub-Saharan Africa who most often are elderly women and young girls. This study examine, the burden and related health issues of family caregivers, primarily women, for AIDS patients in Uganda. It was part of a broad research project using qualitative methods on family caregiving in the home environment in sub-Saharan Africa. As the requirements for family care giving are often overwhelming for women under the conditions as they exist in Uganda and in other developing countries, it constitutes a gender issue of great importance that has not been appreciated fully in the international literature. Family caregiving is also of international relevance, as HIV/AIDS is a global pandemic of previously unknown proportions. In many poor countries, family caregiving is the most common and often the only care that AIDS patients receive, because clinic-based care often is not available close to home or is not affordable. Therefore, family caregiver support programs to alleviate this burden are essential for all those countries where HIV/AIDS is prevalent. Family caregiver burden encompasses medical, social, and economic issues at the household level, which requires an interdisciplinary approach in order to fully understand and appreciate the different dimensions of the family caregiver burden and its negative impact on the lives of so many women in so many countries.

  2. Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

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    Karam Simone M.

    2000-01-01

    Full Text Available Cockayne syndrome (CS is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance. In the present study we report the first Brazilian CS family in which diagnosis was confirmed by the demonstration of decreased RNA synthesis in cultured fibroblasts exposed to UV-C radiation. Despite the progressive course of the disease and the unavailability of an effective treatment, diagnosis may be very important for the benefits to be gained by the afflicted family from genetic counseling and/or prenatal diagnosis.

  3. Familial multiple lipomatosis: a case report

    NARCIS (Netherlands)

    Veger, H. T. C.; Ravensbergen, N. J. C.; Ottenhof, A.; da Costa, S. A.

    2010-01-01

    Lipoma is the most common type of soft tissue tumour. Multiple lipomas localised in different areas of the body are rare and can occur in specific hereditary syndromes. Familial multiple lipomatosis is a rare benign hereditary syndrome with a proposed autosomal-dominant inheritance. We present the

  4. Insight into the Stigma of Suicide Loss Survivors: Factor Analyses of Family Stereotypes, Prejudices, and Discriminations.

    Science.gov (United States)

    Corrigan, Patrick W; Sheehan, Lindsay; Al-Khouja, Maya A; Lewy, Stanley; Major, Deborah R; Mead, Jessica; Redmon, Megghun; Rubey, Charles T; Weber, Stephanie

    2018-01-01

    Families of individuals who die by suicide report public stigma that threatens their well-being. This study used a community-based participatory (CBPR) approach to describe a factor structure for the family stigma of suicide. Candidate items (n = 82) from a previous qualitative study were presented in an online survey format. Members of the public (n = 232) indicated how much they thought items represented public views and behaviors towards family members who lost a loved one to suicide. Factor analyses revealed two factors for stereotypes (dysfunctional, blameworthy), one factor for prejudice (fear and distrust), and three factors for discrimination (exclusion, secrecy, and avoidance).

  5. Maternal and family factors and child eating pathology: risk and protective relationships

    Science.gov (United States)

    2014-01-01

    Background Previous studies have found associations between maternal and family factors and child eating disorder symptoms. However, it is not clear whether family factors predict eating disorder symptoms specifically, or relate to more general child psychopathology, of which eating disorder symptoms may be one component. This study aimed to identify maternal and family factors that may predict increases or decreases in child eating disorder symptoms over time, accounting for children’s body mass index z-scores and levels of general psychological distress. Methods Participants were 221 mother-child dyads from the Childhood Growth and Development Study, a prospective cohort study in Western Australia. Participants were assessed at baseline, 1-year follow-up and 2-year follow-up using interview and self-report measures. Children had a mean age of 10 years at baseline and 46% were male. Linear mixed models and generalised estimating equations were used to identify predictors of children’s eating disorder symptoms, with outcome variables including a global index of eating disorder psychopathology, levels of dietary restraint, levels of emotional eating, and the presence of loss of control (‘binge’) eating. Results Children of mothers with a current or past eating disorder reported significantly higher levels of global eating disorder symptoms and emotional eating than other children, and mothers with a current or past eating disorder reported significantly more concern about their children’s weight than other mothers. Maternal concern about child weight, rather than maternal eating disorder symptoms, was significant in predicting child eating disorder symptoms over time. Family exposure to stress and low maternal education were additional risk factors for eating disorder symptoms, whilst child-reported family satisfaction was a protective factor. Conclusions After adjusting for relevant confounding variables, maternal concern about child weight, children

  6. A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report

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    Mai Phuong L

    2007-03-01

    Full Text Available Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome. Case presentation The patient was diagnosed with a left testicular seminoma at age 28, and treated with left orchiectomy followed by adjuvant cobalt radiation. His family history is significant for testicular seminoma in his son, bladder cancer in his sister, and lipomatosis in his father. His evaluation as part of an etiologic study of familial testicular cancer revealed multiple colon polyps (adenomatous, hyperplastic, and hamartomatous first found in his 50 s, multiple lipomas, multiple hyperpigmented skin lesions, left kidney cancer diagnosed at age 64, and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. The patient underwent genetic testing for Cowden syndrome (PTEN gene, Carney complex (PRKAR1A gene, and multiple endocrine neoplasia syndrome type 1 (MEN1 gene; no deleterious mutations were identified. Discussion The constellation of benign and malignant neoplasms in the context of this patient's familial testicular cancer raised the possibility that these might be manifestations of a known hereditary susceptibility cancer syndrome; however, genetic testing for the three syndromes that were most likely to explain these findings did not show any mutation. Alternatively, this family's phenotype might represent a novel neoplasm susceptibility disorder. This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

  7. Communication Among Melanoma Family Members

    Science.gov (United States)

    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

  8.  Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report

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    Abdulrasheed Adegboye

    2011-07-01

    Full Text Available  Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly has been reported in Africa, especially in several families in remote areas of central Africa but there has not been any published work on ectrodactyly in Nigeria. A baby was born in Ilorin, North Central Zone of Nigeria, with an uneventful prenatal and delivery history but was noticed to have malformation of the two hands and the two lower limbs at birth which are replica of the father’s malformation. We present this case to highlight familial ectrodactyly in Nigeria and prepare us to improve upon simple prenatal diagnosis and management of the challenges associated with patients with congenital malformation in Nigeria and other developing countries.

  9. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

    Science.gov (United States)

    Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

    2014-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2016-08-01

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

  11. Characterization of the Pichia pastoris protein-O-mannosyltransferase gene family.

    Directory of Open Access Journals (Sweden)

    Juergen H Nett

    Full Text Available The methylotrophic yeast, Pichiapastoris, is an important organism used for the production of therapeutic proteins. However, the presence of fungal-like glycans, either N-linked or O-linked, can elicit an immune response or enable the expressed protein to bind to mannose receptors, thus reducing their efficacy. Previously we have reported the elimination of β-linked glycans in this organism. In the current report we have focused on reducing the O-linked mannose content of proteins produced in P. pastoris, thereby reducing the potential to bind to mannose receptors. The initial step in the synthesis of O-linked glycans in P. pastoris is the transfer of mannose from dolichol-phosphomannose to a target protein in the yeast secretory pathway by members of the protein-O-mannosyltransferase (PMT family. In this report we identify and characterize the members of the P. pastoris PMT family. Like Candida albicans, P. pastoris has five PMT genes. Based on sequence homology, these PMTs can be grouped into three sub-families, with both PMT1 and PMT2 sub-families possessing two members each (PMT1 and PMT5, and PMT2 and PMT6, respectively. The remaining sub-family, PMT4, has only one member (PMT4. Through gene knockouts we show that PMT1 and PMT2 each play a significant role in O-glycosylation. Both, by gene knockouts and the use of Pmt inhibitors we were able to significantly reduce not only the degree of O-mannosylation, but also the chain-length of these glycans. Taken together, this reduction of O-glycosylation represents an important step forward in developing the P. pastoris platform as a suitable system for the production of therapeutic glycoproteins.

  12. Impact of type 1 diabetes mellitus on the family is reduced with the medical home, care coordination, and family-centered care.

    Science.gov (United States)

    Katz, Michelle L; Laffel, Lori M; Perrin, James M; Kuhlthau, Karen

    2012-05-01

    To examine whether the medical home, care coordination, or family-centered care was associated with less impact of type 1 diabetes mellitus (T1D) on families' work, finances, time, and school attendance. With the 2005 to 2006 National Survey of Children with Special Health Care Needs, we compared impact in children with T1D (n = 583) with that in children with other special health care needs (n = 39 944) and children without special health care needs (n = 4945). We modeled the associations of the medical home, care coordination, and family-centered care with family impact in T1D. Seventy-five percent of families of children with T1D reported a major impact compared with 45% of families of children with special health care needs (P families of children without special health care needs (P families of children with T1D, 35% reported restricting work, 38% reported financial impact, 41% reported medical expenses >$1000/year, 24% reported spending ≥11 hours/week caring or coordination care, and 20% reported ≥11 school absences/year. The medical home, care coordination, and family-centered care were associated with less work and financial impact. In childhood T1D, most families experience major impact. Better systems of health care delivery may help families reduce some of this impact. Copyright © 2012 Mosby, Inc. All rights reserved.

  13. Family Intervention in First-Episode Psychosis

    Directory of Open Access Journals (Sweden)

    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.

  14. Longitudinal Influence of Paternal Distress on Children’s Representations of Fathers, Family Cohesion, and Family Conflict

    Science.gov (United States)

    Adamsons, Kari L.; Robinson, JoAnn L.; Sabatelli, Ronald M.

    2014-01-01

    A parent’s distress is known to color children’s experiences of their families. Studies, however, have rarely focused on the levels of distress experienced by fathers, and in particular, as they affect the emotional experiences of their children. We examine the impact that fathers’ experience of distress throughout their children’s early years has on children’s emerging narrative representations of father-child relationships and of family conflict and cohesion. In this longitudinal investigation, fathers of young children reported their distress on two occasions in relation to self, the marital relationship, and the family climate. Fathers also concurrently reported on their children’s temperament, specifically negative emotionality. Children responded to story stem beginnings about challenging situations in the family and their narratives were scored for dysregulated negative-disciplinary and positive parental behaviors of fathers, family conflict themes, and family harmony themes. It was hypothesized that children of more distressed fathers would represent greater dysregulated fathering and higher levels of family conflict, and lower levels of positive fathering and family harmony than children of less distressed fathers. Further, the study examined whether this effect was mediated through the fathers’ reports of their children’s negative emotionality. Results partially supported the hypothesized direct and indirect effects. Children’s narratives of negative-disciplinary fathering and family conflict were more common in boys when fathers reported greater distress, and temperament ratings fully mediated this effect. However, their narratives of positive fathering and family harmony were not significantly affected. That positive family features were preserved in children’s narratives even in the face of greater father distress suggests that families may be able to build resilience to internalized distress through these positive narrative

  15. The Importance of Older Family Members in Providing Social Resources and Promoting Cancer Screening in Families with a Hereditary Cancer Syndrome

    Science.gov (United States)

    Ashida, Sato; Hadley, Donald W.; Goergen, Andrea F.; Skapinsky, Kaley F.; Devlin, Hillary C.; Koehly, Laura M.

    2011-01-01

    Purpose: This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome. Design and Methods: Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network…

  16. Urethrotomy has a much lower success rate than previously reported.

    Science.gov (United States)

    Santucci, Richard; Eisenberg, Lauren

    2010-05-01

    We evaluated the success rate of direct vision internal urethrotomy as a treatment for simple male urethral strictures. A retrospective chart review was performed on 136 patients who underwent urethrotomy from January 1994 through March 2009. The Kaplan-Meier method was used to analyze stricture-free probability after the first, second, third, fourth and fifth urethrotomy. Patients with complex strictures (36) were excluded from the study for reasons including previous urethroplasty, neophallus or previous radiation, and 24 patients were lost to followup. Data were available for 76 patients. The stricture-free rate after the first urethrotomy was 8% with a median time to recurrence of 7 months. For the second urethrotomy stricture-free rate was 6% with a median time to recurrence of 9 months. For the third urethrotomy stricture-free rate was 9% with a median time to recurrence of 3 months. For procedures 4 and 5 stricture-free rate was 0% with a median time to recurrence of 20 and 8 months, respectively. Urethrotomy is a popular treatment for male urethral strictures. However, the performance characteristics are poor. Success rates were no higher than 9% in this series for first or subsequent urethrotomy during the observation period. Most of the patients in this series will be expected to experience failure with longer followup and the expected long-term success rate from any (1 through 5) urethrotomy approach is 0%. Urethrotomy should be considered a temporizing measure until definitive curative reconstruction can be planned. 2010 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  17. Potential Use of Food/Activity, Parenting Style, and Caregiver Feeding Style Measurement Tools with American Indian Families: A Brief Report.

    Science.gov (United States)

    Hughes, Sheryl O; Hayes, Jenna T; Sigman-Grant, Madeleine; VanBrackle, Angela

    2017-02-01

    Objective To provide preliminary descriptive data on caregiver and child weight status, parenting styles, feeding styles, and feeding practices of a small American Indian sample. Methods Participants included a subsample of American Indian caregivers (n = 23) identified from a larger study that was conducted in five states. Using previously validated instruments, means, standard deviations, and ranges for general parenting styles, feeding styles, and feeding practices were explored. Results In general, most caregivers reported healthy feeding practices. Most caregivers scored higher on responsive compared to restrictive or permissive in general parenting. Of the sample, 12 caregivers (52.2 %) were classified in the indulgent feeding style category, 5 caregivers (21.7 %) were classified as authoritative, 5 (21.7 %) uninvolved, and 1 (4.3 %) authoritarian. Conclusions More investigations are needed to explore questions raised by this study about using common tools that measure childhood obesity with American Indian families.

  18. Family meal frequency among children and adolescents with eating disorders.

    Science.gov (United States)

    Elran-Barak, Roni; Sztainer, Maya; Goldschmidt, Andrea B; Le Grange, Daniel

    2014-07-01

    Previous studies on family meals and disordered eating have mainly drawn their samples from the general population. The goal of the current study is to determine family meal frequency among children and adolescents with anorexia nervosa (AN), bulimia nervosa (BN), and feeding or eating disorder not elsewhere classified (FED-NEC) and to examine whether family meal frequency is associated with eating disorder psychopathology. Participants included 154 children and adolescents (M = 14.92 ± 2.62), who met criteria for AN (n = 60), BN (n = 32), or FED-NEC (n = 62). All participants completed the Eating Disorder Examination and the Family Meal Questionnaire prior to treatment at the University of Chicago Eating Disorders Program. AN and BN participants significantly differed in terms of family meal frequency. A majority of participants with AN (71.7%), compared with less than half (43.7%) of participants with BN, reported eating dinner with their family frequently (five or more times per week). Family meal frequency during dinner was significantly and negatively correlated with dietary restraints and eating concerns among participants with BN (r = -.381, r = -.366, p meal frequency may be explained by their parents' relatively greater vigilance over eating, whereas families of BN patients may be less aware of eating disorder behaviors and hence less insistent upon family meals. Additionally, children and adolescents with AN may be more inhibited and withdrawn and therefore are perhaps more likely to stay at home and eat together with their families. Copyright © 2014 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

  19. CREDIT CONTROL MANAGEMENT AND BUSINESS PERFORMANCE : THE MALAYSIAN FAMILY SME PERSPECTIVE

    Directory of Open Access Journals (Sweden)

    Edward Wong Sek Khin

    2015-04-01

    Full Text Available This study examined the relationship between control management and family business performance in the Malaysian context. It has two objectives, the first being to determine the relationship of organizational credit control policy and procedures, employee development and motivation, and intelligence collection systems to subsequent collection reports in Malaysian family SMEs. The second objective is to investigate the moderating effect of participation in decision-making and work effort towards innovation and business performance. This is a descriptive study involving 90 senior executives employed in 90 Malaysian family SMEs/firms. A correlation analysis from this study confirmed previous researchers' observations that high-level organizational commitment to credit control management is linked to improvements in business performance. The results suggest that three components - credit policy, employee development, and intelligence collection systems - are the most important predictors for the efficiency and effectiveness of credit control management.

  20. Genetics of intellectual disability in consanguineous families.

    Science.gov (United States)

    Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Soltani Banavandi, Mohammad Javad; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gärtner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M; Oladnabi, Morteza; Wienker, Thomas F; Ropers, Hans-Hilger; Najmabadi, Hossein

    2018-01-04

    Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

  1. R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.

    Directory of Open Access Journals (Sweden)

    Kheng-Seang Lim

    Full Text Available Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL is a rare hereditary stroke caused by mutations in NOTCH3 gene. We report the first case of CADASIL in an indigenous Rungus (Kadazan-Dusun family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C>T, p.Arg54Cys mutation in the NOTCH3. This mutation was previously reported in a Caucasian and two Korean cases of CADASIL. We recruited two generations of the affected Rungus family (n = 9 and found a missense mutation (c.160C>T in exon 2 of NOTCH3 in three siblings. Two of the three siblings had severe white matter abnormalities in their brain MRI (Scheltens score 33 and 50 respectively, one of whom had a young stroke at the age of 38. The remaining sibling, however, did not show any clinical features of CADASIL and had only minimal changes in her brain MRI (Scheltens score 17. This further emphasized the phenotype variability among family members with the same mutation in CADASIL. This is the first reported family with CADASIL in Rungus subtribe of Kadazan-Dusun ethnicity with a known mutation at exon 2 of NOTCH3. The penetrance of this mutation was not complete during the course of this study.

  2. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

    Energy Technology Data Exchange (ETDEWEB)

    Fotiadou, Anastasia; Kiriakou, Vera; Tsitouridis, Ioannis [Papageorgiou Hospital, Radiology Department, Thessaloniki (Greece); Arvaniti, Maria [Genimatas Hospital, Radiology Department, Thessaloniki (Greece)

    2009-10-15

    In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications. (orig.)

  3. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

    International Nuclear Information System (INIS)

    Fotiadou, Anastasia; Kiriakou, Vera; Tsitouridis, Ioannis; Arvaniti, Maria

    2009-01-01

    In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications. (orig.)

  4. Family-based processes associated with adolescent distress, substance use and risky sexual behavior in families affected by maternal HIV.

    Science.gov (United States)

    Lester, Patricia; Stein, Judith A; Bursch, Brenda; Rice, Eric; Green, Sara; Penniman, Typhanye; Rotheram-Borus, Mary Jane

    2010-01-01

    The present study investigated how maternal HIV and mediating family processes are associated with adolescent distress, substance use, and risky sexual behavior. Mother-adolescent (ages 12-21) dyads (N = 264) were recruited from neighborhoods where the HIV-affected families resided (161 had mothers with HIV). Mediating family processes were youth aggressive conflict style, maternal bonding, maternal role reversal expectations, and overall family functioning. Results of structural equation modeling indicated that youth aggressive conflict resolution style was strongly associated with adolescent distress, substance use, and risky sexual behavior. In HIV-affected families, youth less frequently reported using an aggressive conflict resolution style and more frequently reported positive maternal bonds; their mothers reported less positive family functioning than control families. Finally, maternal distress indirectly affected adolescent distress and risk behavior via youth aggressive conflict resolution style.

  5. Unexpected finding of T-cell lymphoma in a previously healthy 16-year-old patient after a thorax trauma: a case report

    DEFF Research Database (Denmark)

    Bach Okholm-Hansen, Anna; Brorson, Stig

    2014-01-01

    INTRODUCTION: We describe the clinical course and emphasize the difficulties in diagnosing T-cell lymphoblastic lymphoma. The differential diagnostic difficulties have previously been described in regard to pneumonia, but to the best of the authors' knowledge this is the first case report to desc...... relevant to pediatricians, surgeons, anesthesiologists, and general practitioners....

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

    Science.gov (United States)

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

    2014-05-01

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

  7. Familial Idiopathic Cranial Neuropathy in a Chinese Family.

    Science.gov (United States)

    Zhang, Li; Liang, Jianfeng; Yu, Yanbing

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

  8. Two Family B DNA Polymerases From Aeropyrum pernix, Based on Revised Translational Frames

    Directory of Open Access Journals (Sweden)

    Katsuya Daimon

    2018-04-01

    Full Text Available Living organisms are divided into three domains, Bacteria, Eukarya, and Archaea. Comparative studies in the three domains have provided useful information to understand the evolution of the DNA replication machinery. DNA polymerase is the central enzyme of DNA replication. The presence of multiple family B DNA polymerases is unique in Crenarchaeota, as compared with other archaeal phyla, which have a single enzyme each for family B (PolB and family D (PolD. We analyzed PolB1 and PolB3 in the hyperthermophilic crenarchaeon, Aeropyrum pernix, and found that they are larger proteins than those predicted from the coding regions in our previous study and from public database annotations. The recombinant larger PolBs exhibited the same DNA polymerase activities as previously reported. However, the larger PolB3 showed remarkably higher thermostability, which made this enzyme applicable to PCR. In addition, the high tolerance to salt and heparin suggests that PolB3 will be useful for amplification from the samples with contaminants, and therefore it has a great potential for diagnostic use in the medical and environmental field.

  9. "For all my family's sake, I should go and find out": an Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer.

    Science.gov (United States)

    Wakefield, Claire E; Ratnayake, Paboda; Meiser, Bettina; Suthers, Graeme; Price, Melanie A; Duffy, Jessica; Tucker, Kathy

    2011-06-01

    Despite proven benefits, the uptake of genetic counseling and testing by at-risk family members of BRCA1 and BRCA2 mutation carriers remains low. This study aimed to examine at-risk individuals' reported reasons for and against familial cancer clinic (FCC) attendance and genetic testing. Thirty-nine telephone interviews were conducted with relatives of high-risk mutation carriers, 23% (n = 9) of whom had not previously attended an FCC. Interview responses were analyzed using the frameworks of Miles and Huberman. The reasons most commonly reported for FCC attendance were for clarification of risk status and to gain access to testing. While disinterest in testing was one reason for FCC nonattendance, several individuals were unaware of their risk (n = 3) or their eligibility to attend an FCC (n = 2), despite being notified of their risk status through their participation in a large-scale research project. Individuals' reasons for undergoing testing were in line with that reported elsewhere; however, concerns about discrimination and insurance were not reported in nontestees. Current guidelines regarding notifying individuals discovered to be at increased risk in a research, rather than clinical setting, take a largely nondirective approach. However, this study demonstrates that individuals who receive a single letter notifying them of their risk may not understand/value the information they receive.

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

    Science.gov (United States)

    Hsiao, Chiu-Yueh

    2010-12-01

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

  11. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.

    Science.gov (United States)

    Lin, Pengfei; Zhang, Dong; Xu, Guangrun; Yan, Chuanzhu

    2018-04-01

    Spinocerebellar ataxias (SCAs) are a group of autosomal dominant, clinically heterogeneous neurodegenerative disorders. SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. However, to date, there have been no other reports of the IFRD1 mutation to confirm its role in SCA. Here, we report a Han Chinese family with SCA18; the family members presented with a slowly progressing gait ataxia, pyramidal tract signs, and peripheral neuropathy. We identified a missense variant (c.514 A>G, p.I172V) in IFRD1 gene in the family using targeted next-generation sequencing and Sanger direct sequencing with specific primers. Our results suggest that the IFRD1 gene may be the causative allele for SCA18.

  12. Family Stress, Parenting Styles, and Behavioral Adjustment in Preschool-Age Adopted Chinese Girls

    Science.gov (United States)

    Tan, Tony Xing; Camras, Linda A.; Deng, Huihua; Zhang, Minghao; Lu, Zuhong

    2012-01-01

    This study seeks to extend previous research on family stress, parenting, and child adjustment to families with adopted Chinese children. In doing so, we also seek to strengthen inferences regarding the experiential underpinnings of previously obtained relationships among these variables by determining if they also occur in families where parents…

  13. Working with Families Living with Autism: Potential Contributions of Marriage and Family Therapists

    Science.gov (United States)

    Neely, Jason; Amatea, Ellen S.; Echevarria-Doan, Silvia; Tannen, Tina

    2012-01-01

    This article introduces marriage and family therapists (MFT) to some of the common issues faced by families that have a child with autism spectrum disorder (ASD). First, autism is defined and common myths surrounding it are discussed. Next, relational challenges are presented that families report experiencing during early childhood through the…

  14. Associations between Family Communication Patterns, Sibling Closeness, and Adoptive Status

    Science.gov (United States)

    Samek, Diana R.; Rueter, Martha A.

    2011-01-01

    Previous research has demonstrated the protective effect of family and sibling closeness on child adjustment, but fewer studies have investigated how closeness is promoted within families. Guided by Family Communication Patterns Theory, we tested the association between family communication and sibling emotional and behavioral closeness, and…

  15. Comparison of family-planning service quality reported by adolescents and young adult women in Mexico.

    Science.gov (United States)

    Darney, Blair G; Saavedra-Avendano, Biani; Sosa-Rubi, Sandra G; Lozano, Rafael; Rodriguez, Maria I

    2016-07-01

    Associations between age and patient-reported quality of family planning services were examined among young women in Mexico. A repeated cross-sectional analysis of survey data collected in 2006, 2009, and 2014 was performed. Data from women aged 15-29years who had not undergone sterilization and were currently using a modern contraceptive method were included. The primary outcome was high-quality care, defined as positive responses to all five quality items regarding contraceptive services included in the survey. Multivariable logistic regression and marginal probabilities were used to compare adolescents and women aged 20-29years. The responses of respondents using different contraceptive methods were compared. Data were included from 15 835 individuals. The multivariable analysis demonstrated lower odds of reporting high-quality care among women aged 15-19years (odds ratio 0.73; 95% confidence interval 0.60-0.88) and 20-24years (odds ratio 0.85; 95% confidence interval 0.75-0.96) compared with women aged 25-29years. Adolescents using hormonal and long-acting reversible contraception had significantly lower odds of reporting high-quality care compared with women aged 25-29. Adolescents in Mexico reported a lower quality of family planning services compared with young adult women. Continued research and policies are needed to improve the quality of contraceptive services. Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  16. Childhood family disruptions and adult well-being: the differential effects of divorce and parental death.

    Science.gov (United States)

    Mack, K Y

    2001-01-01

    This study draws on attachment theory and social learning theory and uses data from the National Survey of Families and Households to examine the differential effects of childhood family disruptions on adult well-being. Comparisons are made between adults who experienced parental divorce, adults who experienced parental death, and adults who were raised in intact families (N = 4,341). The present study differs from previous research by making direct comparisons between different family disruption groups, assessing the effects of family disruptions that occur before age 19, and including multiple measures of adult well-being as dependent variables. Consistent with hypotheses and inferences made from comparisons with adults from intact families, adults who experienced parental divorce report lower levels of parent-child relationship quality, higher levels of self-confidence, and lower levels of depression than adults who experienced parental death during childhood. Therefore, studies that fail to take type of childhood family disruption into account will lead to inaccurate and misleading conclusions about the effects of these experiences on adult outcomes.

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

    Science.gov (United States)

    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.

  18. Two families from New England with usher syndrome type IC with distinct haplotypes.

    Science.gov (United States)

    DeAngelis, M M; McGee, T L; Keats, B J; Slim, R; Berson, E L; Dryja, T P

    2001-03-01

    To search for patients with Usher syndrome type IC among those with Usher syndrome type I who reside in New England. Genotype analysis of microsatellite markers closely linked to the USH1C locus was done using the polymerase chain reaction. We compared the haplotype of our patients who were homozygous in the USH1C region with the haplotypes found in previously reported USH1C Acadian families who reside in southwestern Louisiana and from a single family residing in Lebanon. Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. Of these, one carried the Acadian USH1C haplotype and had Acadian ancestors (that is, from Nova Scotia) who did not participate in the 1755 migration of Acadians to Louisiana. The second family had a haplotype that proved to be the same as that of a family with USH1C residing in Lebanon. Each of the two families had haplotypes distinct from the other. This is the first report that some patients residing in New England have Usher syndrome type IC. Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene.

  19. Talking about parental substance abuse with children: eight families' experiences of Beardslee's family intervention.

    Science.gov (United States)

    Pihkala, Heljä; Dimova-Bränström, Neda; Sandlund, Mikael

    2017-07-01

    Many children are affected by parental substance use disorder. Beardslee's family intervention (BFI) is a family-based psycho-educative method for children of mentally ill parents, used in psychiatric practise in several Nordic countries. The method has also been used to some extent when a parent suffers from substance use disorder. The aim of the study was to explore the family members' experiences of the BFI when a parent has a diagnosis of substance use disorder, to gain new knowledge about the process of the BFI in this area. Ten children and 14 parents were interviewed about their experiences 6 months after a BFI. The interviews were analyzed by qualitative content analysis. The children's psychological symptoms were measured by the Strengths and Difficulties Questionnaire at baseline and after 6 months. Increased openness about the substance use disorder in the families was a recurrent theme throughout the material and a central issue reported in the children's experiences. The children had a high level of psychological symptoms according to the SDQ at baseline, but the majority of them felt that the BFI made a positive difference in their families and for themselves. The parents reported improved wellbeing of their children. Positive experienced effects for children and parents are reported in families with parental substance use disorder, with possible connection to use of BFI. The present study suggests that Beardslee's family intervention is applicable as a preventive method for children in families with a parent suffering from substance use disorder.

  20. Retrospective reports of parenting received in their families of origin: relationships to adult attachment in adult children of alcoholics.

    Science.gov (United States)

    Kelley, Michelle L; Nair, Veena; Rawlings, Tanaya; Cash, Thomas F; Steer, Kate; Fals-Stewart, William

    2005-09-01

    The present study examined general and romantic attachment and parenting students received in their families of origin among 401 college students who resided with an alcohol-abusing parent prior to age 16 years as compared to those who did not reside with alcohol-abusing parents. Participants completed the Children's Report of Parent Behavior Instrument [Schludermann, E. and Schludermann, S. (1970). Children's Report of Parent Behavior Inventory (CRPBI). Canada: University of Manitoba], Experiences in Close Relationships--Revised [Fraley, R. C., Waller, N. G., and Brennan, K. G. (2000). An item response theory analysis of self-report measures of adult attachment. Journal of Personality and Social Psychology, 78, 350-365], Relationship Scale Questionnaire [Griffin, D. W. and Bartholomew, K. (1994). Models of the self and other: Fundamental dimensions underlying measures of adult attachment. Journal of Personality and Social Psychology, 67, 430-445], and the Children of Alcoholics Screening Test [Jones, J. W. (1983). The Children of Alcoholics Screening Test: Test manual. Chicago: Camelot]. Young adults who met criteria for ACOAs reported more anxious and avoidant behavior in romantic relationships and a more fearful style of general adult attachment. Parenting behavior in one's family of origin predicted anxious behavior in romantic relationships and a fearful overall style of attachment, whereas being an ACOA and parenting in one's family of origin predicted avoidant behavior in romantic relationships.

  1. Families Hardest Hit: Effects of Welfare Reform on Homeless Families.

    Science.gov (United States)

    Dworkin, Julie

    This report presents data from 1999 surveys of people living in Chicago shelters and warming centers for families with children. The surveys asked about the impacts of welfare reform on respondents' lives. Researchers also surveyed housing and food assistance agencies, shelters, and other social service agencies. Of 481 families surveyed, 44…

  2. Families of Sexual Minorities: Child Well-Being, Parenting Desires, and Expectations for Future Family Formation

    OpenAIRE

    Wondra, Danielle Leanne

    2017-01-01

    My dissertation project uses a multiple methodological approach—unfolding in three substantive chapters—to ask how gender, race/ethnicity, and socioeconomic status intersect with sexual identity to create unique experiences for sexual minorities in terms of parenting perspectives and expectations for family formation. Perspectives on family formation may differ for sexual minorities because they are socially positioned differently than heterosexual people, yet previous studies largely address...

  3. Placenta Percreta Invading Broad Ligament and Parametrium in a Woman with Two Previous Cesarean Sections: A Case Report

    Directory of Open Access Journals (Sweden)

    Mansoureh Vahdat

    2012-01-01

    Full Text Available Introduction. The incidence of placenta accreta has dramatically increased due to increasing caesarean section rate all over the world. Placenta percreta is the most severe form of placenta accretes. It frequently results in maternal morbidity and mortality mainly caused by massive obstetric hemorrhage or emergency hysterectomy. Percreta invading into the broad ligament has rarely been previously reported. Case presenting. We presented a case of placenta percreta invading left broad ligament and parametrium in a woman with two previous cesarean sections, which led to massive intraoperative hemorrhage during hysterectomy and transient ischemic encephalopathy. Conclusion. In cases of parametrial involvement, it would be more difficult to decide whether to remove placenta or leave it in site. In surgical removal neither local excision of placental bed and uterine repair nor traditional hysterectomy is adequate if parametrium invaded by placenta. We suggest delayed elective hysterectomy in such cases. So, pregnancy-induced pelvic congestion would be decreased, we can gather an expert team of gynecologists, urologists, and vascular surgeons, we could get plenty of blood products, and we may have the chance to administer methotrexate.

  4. Lewandowsky and Lutz dysplasia: Report of two cases in a family

    Directory of Open Access Journals (Sweden)

    Bhawna Bhutoria

    2011-01-01

    Full Text Available Lewandowsky and Lutz dysplasia, also known as epidermodysplasia verruciformis (EV, is an inherited disorder in which there is widespread and persistent infection with human papilloma virus, defect in cell-mediated immunity and propensity for malignant transformation. Differential clinical and histopathologic evolutions of lesions in two cases of familial EV are compared and discussed in detail. Cases were followed up for 7 years. Detailed history, clinical features and investigations, including skin biopsy from different sites at different times, were examined. Generalized pityriasis versicolor like hypopigmented lesions in both the cases, together with variable pigmented nodular actinic keratosis like lesions on sun-exposed areas, were present. Multiple skin biopsies done from various sites on different occasions revealed features typical of EV along with lesions, i.e., actinic keratosis, Bowen′s disease, basal and squamous cell carcinoma, in the elder sibling. However, skin biopsy of the other sibling showed features of EV and seborrheic keratosis only till date. This study reveals that the disease progression is variable among two individuals of the same family. Malignant lesions were seen only on sun-exposed areas and may be associated with other skin lesions or infections such as angiokeratoma of Fordyce and tinea cruris, as seen in this report.

  5. Cleidocranial dysplasia: A family report

    Directory of Open Access Journals (Sweden)

    Chelvan H

    2009-01-01

    Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

  6. A phylogenetic analysis of rissooidean and cingulopsoidean families (Gastropoda: Caenogastropoda).

    Science.gov (United States)

    Criscione, Francesco; Ponder, Winston Frank

    2013-03-01

    The Rissooidea is one of the largest and most diverse molluscan superfamilies, with 23 recognized Recent families including marine, freshwater and terrestrial members. The Cingulopsoidea are a group of three marine families previously included within the Rissooidea. A previous molecular analysis including two rissooideans and one cingulopsoidean, indicated the possibility that the Rissooidea is at least diphyletic. We use new molecular data to investigate the polyphyly of Rissooidea and test the monophyly of Cingulopsoidea with a greatly increased taxon set. This study includes the greatest sampling to date with 43 species of 14 families of Rissooidea and all families of Cingulopsoidea. Bayesian and maximum likelihood analyses of 16S and 28S show that there are two major clades encompassing taxa previously included in Rissooidea. These are the Rissooidea s.s. containing Rissoidae and Barleeiidae and the Truncatelloidea containing Anabathridae, Assimineidae, Falsicingulidae, Truncatellidae, Pomatiopsidae, Hydrobiidae s.l., Hydrococcidae, Stenothyridae, Calopiidae, Clenchiellidae, Caecidae, Tornidae, and Iravadiidae. Rissoidae is not monophyletic, with Lironoba grouping with Emblanda (Emblandidae) and Rissoina forming a separate clade with Barleeiidae. Iravadiidae is not monophyletic, with Nozeba being sister to the Tornidae. Tatea, usually included within Hydrobiidae, is distinct from that family and Nodulus, previously included in Anabathridae, groups with the hydrobiids. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

    NARCIS (Netherlands)

    Pondman, Kirsten M.; Brinkman, Jacoline W.; van der Straaten, Hanneke M.; Stroobants, An K.; Harteveld, Cornelis L.

    2018-01-01

    We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb

  8. Prevalence and familial predictors of suicidal behaviour among adolescents in Lithuania: a cross-sectional survey 2014.

    Science.gov (United States)

    Zaborskis, Apolinaras; Sirvyte, Dainora; Zemaitiene, Nida

    2016-07-12

    In the past decades Lithuania has been experiencing a very high suicide rate among young people and there are scarce data on the role of the family in shaping these people suicidal behaviour. This study investigated the prevalence of suicidal ideation and attempts, as well as their association with a range of familial factors in a representative sample of Lithuanian adolescents. Study subjects (N = 3572) were adolescents aged 13- and 15-years from the schools in Lithuania who were surveyed in Spring 2014 according to the methodology of the cross-national Health Behaviour in School-aged Children (HBSC). A standard HBSC international questionnaire was translated into Lithuanian and used anonymously to obtain information about suicidal behaviour (stopped doing activities, considered suicide, planned suicide, and suicide attempts) and family life (family structure, quality of communication in family, parental monitoring and bonding, parenting style, family time, etc.). Logistic regression was used to assess association between suicidal behaviours and familial variables. Forty three percents of surveyed adolescents reported presence of emotions that stopped doing activities during the last 12 months, 23.8 % seriously considered attempting suicide, 13.7 % made a suicide plan, 13.2 % attempted suicide, and 4.1 % needed treatment because of suicide attempt in the previous year. Adolescents from non-intact families reported more suicidal ideation (OR ranged from 1.32 to 1.35, P parental support, authoritarian-repressive father's parenting style and permissive-neglectful mother's parenting style, but rare family time together and rare electronic media communication with parents were inversely associated with suicidal behaviour. The boys, 15-year-olds and adolescents who indicated often activities together with their families were more likely than their counterparts to report suicide attempts treated by a doctor or nurse. The young people of Lithuania are at

  9. Adult family relationships in the context of friendship

    Science.gov (United States)

    Fuller-Iglesias, Heather R.; Webster, Noah; Antonucci, Toni C.

    2013-01-01

    The present study examined the complex way in which relationships with family and friends shape health and well-being in adulthood over time. Specifically, we explored whether the longitudinal effects of positive and negative family relationship quality on health and well-being differ in the context of varying levels of positive friend relationships. Data were from two waves (1992/1993 and 2005) of the Social Relations, Aging and Health Study. The sample included respondents aged 18 and older at Wave 1 who reported having a best friend at both waves (N = 455), and consisted of 291 (64%) women and 164 (36%) men. Wave 1 friend positivity and family positivity interacted to predict self-rated health but not self-esteem, indicating that among respondents with a less positive friend relationship, more positive family relationships were related to worse health at Wave 2. Wave 1 friend positivity and family negativity significantly interacted to predict self-rated health and self-esteem at Wave 2. The nature of the interactions were consistent in that among respondents with a more highly positive friend relationship, less negative family relationships were linked to better health and self-esteem at Wave 2. Findings provide insight into the complex way in which social relations impact positive outcomes in adulthood. Previous studies have documented the consistent and straightforward manner in which negative relationships impact health and well-being, whereas this study illustrates that the role of positive social relations is more variable and dependent on multiple relationship contexts. PMID:24273462

  10. EARLY HEAD START FAMILIES' EXPERIENCES WITH STRESS: UNDERSTANDING VARIATIONS WITHIN A HIGH-RISK, LOW-INCOME SAMPLE.

    Science.gov (United States)

    Hustedt, Jason T; Vu, Jennifer A; Bargreen, Kaitlin N; Hallam, Rena A; Han, Myae

    2017-09-01

    The federal Early Head Start program provides a relevant context to examine families' experiences with stress since participants qualify on the basis of poverty and risk. Building on previous research that has shown variations in demographic and economic risks even among qualifying families, we examined possible variations in families' perceptions of stress. Family, parent, and child data were collected to measure stressors and risk across a variety of domains in families' everyday lives, primarily from self-report measures, but also including assay results from child cortisol samples. A cluster analysis was employed to examine potential differences among groups of Early Head Start families. Results showed that there were three distinct subgroups of families, with some families perceiving that they experienced very high levels of stress while others perceived much lower levels of stress despite also experiencing poverty and heightened risk. These findings have important implications in that they provide an initial step toward distinguishing differences in low-income families' experiences with stress, thereby informing interventions focused on promoting responsive caregiving as a possible mechanism to buffer the effects of family and social stressors on young children. © 2017 Michigan Association for Infant Mental Health.

  11. 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...

  12. Family ecology of young children with cerebral palsy.

    Science.gov (United States)

    LaForme Fiss, A; Chiarello, L A; Bartlett, D; Palisano, R J; Jeffries, L; Almasri, N; Chang, H-J

    2014-07-01

    Family ecology in early childhood may influence children's activity and participation in daily life. The aim of this study was to describe family functioning, family expectations of their children, family support to their children, and supports for families of young children with cerebral palsy (CP) based on children's gross motor function level. Participants were 398 children with CP (mean age = 44.9 months) and their parents residing in the USA and Canada. Parents completed four measures of family ecology, the Family Environment Scale (FES), Family Expectations of Child (FEC), Family Support to Child (FSC) and Family Support Scale (FSS). The median scores on the FES indicated average to high family functioning and the median score on the FSS indicated that families had helpful family supports. On average, parents reported high expectations of their children on the FEC and strong support to their children on the FSC. On the FES, higher levels of achievement orientation were reported by parents of children in Gross Motor Function Classification System (GMFCS) level II than parents of children in level I, and higher levels of control were reported by parents of children in level I than parents of children in level IV. On the FEC, parents of children with limited gross motor function (level V) reported lower expectations than parents of children at all other levels. Family ecology, including family strengths, expectations, interests, supports and resources, should be discussed when providing interventions and supports for young children with CP and their families. © 2013 John Wiley & Sons Ltd.

  13. The Association of Telomere Length With Family Violence and Disruption

    Science.gov (United States)

    Mabile, Emily; Brett, Zoë H.; Esteves, Kyle; Jones, Edward; Shirtcliff, Elizabeth A.; Theall, Katherine P.

    2014-01-01

    BACKGROUND: To enhance the understanding of biological mechanisms connecting early adversity and negative health, we examine the association between family interpersonal violence and disruption and telomere length in youth. These specific exposures were selected because of their established links with negative health consequences across the life-course. METHODS: Children, age 5 to 15, were recruited from the greater New Orleans area, and exposure to family disruption and violence was assessed through caregiver report. Telomere length, from buccal cell DNA (buccal telomere length [bTL]), was determined by using monochrome multiplex quantitative real-time polymerase chain reaction. The association between bTL and adversity exposure was tested (n = 80). RESULTS: Cumulative exposure to interpersonal violence and family disruption was correlated with bTL. Controlling for other sociodemographic factors, bTL was significantly shorter in children with higher exposure to family violence and disruption. Witnessing family violence exerted a particularly potent impact. A significant gender interaction was found (β = −0.0086, SE = 0.0031, z test= −2.79, P = .0053) and analysis revealed the effect only in girls. CONCLUSIONS: bTL is a molecular biomarker of adversity and allostatic load that is detectable in childhood. The present results extend previous studies by demonstrating that telomeres are sensitive to adversity within the overarching family domain. These findings suggest that the family ecology may be an important target for interventions to reduce the biological impact of adversity in the lives of children. PMID:24936002

  14. The association of telomere length with family violence and disruption.

    Science.gov (United States)

    Drury, Stacy S; Mabile, Emily; Brett, Zoë H; Esteves, Kyle; Jones, Edward; Shirtcliff, Elizabeth A; Theall, Katherine P

    2014-07-01

    To enhance the understanding of biological mechanisms connecting early adversity and negative health, we examine the association between family interpersonal violence and disruption and telomere length in youth. These specific exposures were selected because of their established links with negative health consequences across the life-course. Children, age 5 to 15, were recruited from the greater New Orleans area, and exposure to family disruption and violence was assessed through caregiver report. Telomere length, from buccal cell DNA (buccal telomere length [bTL]), was determined by using monochrome multiplex quantitative real-time polymerase chain reaction. The association between bTL and adversity exposure was tested (n = 80). Cumulative exposure to interpersonal violence and family disruption was correlated with bTL. Controlling for other sociodemographic factors, bTL was significantly shorter in children with higher exposure to family violence and disruption. Witnessing family violence exerted a particularly potent impact. A significant gender interaction was found (β = -0.0086, SE = 0.0031, z test= -2.79, P = .0053) and analysis revealed the effect only in girls. bTL is a molecular biomarker of adversity and allostatic load that is detectable in childhood. The present results extend previous studies by demonstrating that telomeres are sensitive to adversity within the overarching family domain. These findings suggest that the family ecology may be an important target for interventions to reduce the biological impact of adversity in the lives of children. Copyright © 2014 by the American Academy of Pediatrics.

  15. Family-centred care delivery

    Science.gov (United States)

    Mayo-Bruinsma, Liesha; Hogg, William; Taljaard, Monica; Dahrouge, Simone

    2013-01-01

    Abstract Objective To determine whether models of primary care service delivery differ in their provision of family-centred care (FCC) and to identify practice characteristics associated with FCC. Design Cross-sectional study. Setting Primary care practices in Ontario (ie, 35 salaried community health centres, 35 fee-for-service practices, 32 capitation-based health service organizations, and 35 blended remuneration family health networks) that belong to 4 models of primary care service delivery. Participants A total of 137 practices, 363 providers, and 5144 patients. Main outcome measures Measures of FCC in patient and provider surveys were based on the Primary Care Assessment Tool. Statistical analyses were conducted using linear mixed regression models and generalized estimating equations. Results Patient-reported FCC scores were high and did not vary significantly by primary care model. Larger panel size in a practice was associated with lower odds of patients reporting FCC. Provider-reported FCC scores were significantly higher in community health centres than in family health networks (P = .035). A larger number of nurse practitioners and clinical services on-site were both associated with higher FCC scores, while scores decreased as the number of family physicians in a practice increased and if practices were more rural. Conclusion Based on provider and patient reports, primary care reform strategies that encourage larger practices and more patients per family physician might compromise the provision of FCC, while strategies that encourage multidisciplinary practices and a range of services might increase FCC. PMID:24235195

  16. Iodine-131 induced hepatotoxicity in previously healthy patients with Grave's disease.

    Science.gov (United States)

    Jhummon, Navina Priya; Tohooloo, Bhavna; Qu, Shen

    2013-01-01

    To describe the association of the rare and serious complication of liver toxicity in previously healthy Grave's disease (GD) patients after the treatment with radioactive iodine (131)I (RAI). We report the clinical, laboratory and pathologic findings of 2 cases of severe liver toxicity associated with the treatment with RAI in previously healthy patients with GD. Clinical examination and laboratory investigations excluded viral hepatitis, autoimmune hepatitis, granulomatous disease, primary biliary disease, extrahepatic biliary obstruction, and heart failure. Case 1: A previously healthy 52-years old man reportedly having a typical GD but following RAI treatment, concomitantly developed severe liver toxicity that required 1 week of treatment in hospital. Case 2: A previously healthy 34-years old woman is reported as having a typical GD but developed jaundice following RAI treatment that required several weeks of in hospital treatment in the hepato-biliary department. In both cases, the liver dysfunction resolved after intensive treatment with hepato-protective agents. In this report the therapeutic considerations as well as the pathogenetic possibilities are reviewed. To the best of our knowledge, this is the first description of the association observed, which is rare but may be severe and should be considered in any case of thyrotoxicosis where a liver dysfunction develops after the treatment with radioactive iodine (131)I.

  17. Gambling problems in the family – A stratified probability sample study of prevalence and reported consequences

    Directory of Open Access Journals (Sweden)

    Øren Anita

    2008-12-01

    Full Text Available Abstract Background Prior studies on the impact of problem gambling in the family mainly include help-seeking populations with small numbers of participants. The objective of the present stratified probability sample study was to explore the epidemiology of problem gambling in the family in the general population. Methods Men and women 16–74 years-old randomly selected from the Norwegian national population database received an invitation to participate in this postal questionnaire study. The response rate was 36.1% (3,483/9,638. Given the lack of validated criteria, two survey questions ("Have you ever noticed that a close relative spent more and more money on gambling?" and "Have you ever experienced that a close relative lied to you about how much he/she gambles?" were extrapolated from the Lie/Bet Screen for pathological gambling. Respondents answering "yes" to both questions were defined as Concerned Significant Others (CSOs. Results Overall, 2.0% of the study population was defined as CSOs. Young age, female gender, and divorced marital status were factors positively associated with being a CSO. CSOs often reported to have experienced conflicts in the family related to gambling, worsening of the family's financial situation, and impaired mental and physical health. Conclusion Problematic gambling behaviour not only affects the gambling individual but also has a strong impact on the quality of life of family members.

  18. Look who's talking: a prospective study of familial transmission of language impairments.

    Science.gov (United States)

    Spitz, R V; Tallal, P; Flax, J; Benasich, A A

    1997-10-01

    Language impairments have been hypothesized to have a genetic component. Previous studies of the familial aggregation of language impairments have relied on a retrospective approach based on parental/self-reported history of language development. This study examined familial aggregation prospectively, by investigating language acquisition and cognitive development in the younger siblings and offspring of individuals with well-defined language impairments. It was predicted that children with a positive family history for language impairments would be more likely to show delays in language acquisition than would age- and gender-matched controls. Similar delays were not expected in nonlinguistic domains, such as conceptual, gestural, or general cognitive development. Ten children with a positive family history and 10 age- and gender-matched controls were tested. Analyses of linguistic and cognitive assessments at 16 to 26 months confirmed the predictions. Children with a family history of language impairments had lower receptive and expressive language scores than controls, with 50% of them scoring at least 1.5 SD below the mean for their age. At the same time, performance on a number of tasks that did not rely on language abilities did not differ as a function of family history. These results indicate that children with a positive family history for language impairments are at risk for language delay; the results also support a familial component to language impairments.

  19. Familial association of pseudohypoparathyroidism and psoriasis: case report

    Directory of Open Access Journals (Sweden)

    Renan Magalhães Montenegro Junior

    2002-01-01

    Full Text Available CONTEXT: The association between psoriasis and hypoparathyroidism has been reported by several authors, and it has been suggested that abnormalities in calcium homeostasis may be involved in the development or exacerbation of psoriasis. However, so far there have only been two reports of pseudohypoparathyroidism associated with psoriasis. OBJECTIVE: To describe the familial occurrence of this association for the first time. CASE REPORTS: Two siblings with psoriasis associated with pseudohypoparathyroidism were presented. The first patient was a 24-year-old white male with disseminated erythrodermic pustular psoriasis that began 2 months before admission. He had had a history of mental retardation, recurrent otitis, seizures and arthralgia from the age of 11 years onwards. He presented the characteristic phenotype of Albright osteodystrophy: short stature, obesity, round facies, broad forehead, short neck and brachydactylia. He adopted a position of flexed limbs and showed proximal muscle weakness and a positive Trousseau sign. He had clinical signs of hypocalcemia (0.69 mmol/l ionized calcium and 3.2 mg/dl total calcium, hyperphosphatemia (6.6 mg/dl, hypomagnesemia (1.0 mEq/l, hypoalbuminemia (3.1 g/dl, normal serum intact PTH levels (45.1 pg/ml, primary hypothyroidism (13.2 mU/ml TSH, and 4.7 mg/dl total T4, hypergonadotrophic hypogonadism (116.0 ng/ml LH, 13.2 mU/ml FSH and 325.0 ng/dl testosterone, osteoporosis, and diffuse calcifications in soft tissues and in the central nervous system. The second case was a 14-year-old white girl with a history of psoriasis vulgaris from the age of five years onwards, and antecedents of mental retardation. She presented signs of Albright osteodystrophy (short stature, round facies, obesity, short neck, brachydactylia, hypocalcemia (ionized calcium of 1.08 mmol/l and total calcium of 6.7 mg/dl hyperphosphatemia (9.4 mg/dl, elevated serum PTH levels (223.0 pg/ml, osteoporosis, and hypergonadotrophic

  20. Germline RAD51B truncating mutation in a family with cutaneous melanoma

    DEFF Research Database (Denmark)

    Wadt, Karin A W; Aoude, Lauren G; Golmard, Lisa

    2015-01-01

    Known melanoma predisposition genes only account for around 40% of high-density melanoma families. Other rare mutations are likely to play a role in melanoma predisposition. RAD51B plays an important role in DNA repair through homologous recombination, and inactivation of RAD51B has been implicated...... in tumorigenesis. Thus RAD51B is a good candidate melanoma susceptibility gene, and previously, a germline splicing mutation in RAD51B has been identified in a family with early-onset breast cancer. In order to find genetic variants associated with melanoma predisposition, whole-exome sequencing was carried out...... on blood samples from a three-case cutaneous melanoma family. We identified a novel germline RAD51B nonsense mutation, and we demonstrate reduced expression of RAD51B in melanoma cells indicating inactivation of RAD51B. This is only the second report of a germline truncating RAD51B mutation. While...

  1. Recognition of anxiety disorders by family physicians after rigorous medical record case extraction Results of the Netherlands Study of Depression and Anxiety

    NARCIS (Netherlands)

    Janssen, Evelien H. C.; van de Ven, Peter M.; Terluin, Berend; Verhaak, Peter F. M.; van Marwijk, Harm W. J.; Smolders, Mirrian; van der Meer, Klaas; Penninx, Brenda W. J. H.; van Hout, Hein P. J.

    2012-01-01

    Objective: Previous studies reported low and inconsistent rates of recognition of anxiety disorders by family physicians (FPs). Our objectives were to examine (a) which combination of indications within medical records most accurately reflects recognition of anxiety disorders and (b) whether patient

  2. Recognition of anxiety disorders by family physicians after rigorous medical record case extraction: results of the Netherlands Study of Depression and Anxiety.

    NARCIS (Netherlands)

    Janssen, E.H.C.; Ven, P.M. van de; Terluin, B.; Verhaak, P.F.M.; Marwijk, H.W.J. van; Smolders, M.; Meer, K. van der; Penninx, B.W.J.H.; Hout, H.P.J. van

    2012-01-01

    Objective: Previous studies reported low and inconsistent rates of recognition of anxiety disorders by family physicians (FPs). Our objectives were to examine (a) which combination of indications within medical records most accurately reflects recognition of anxiety disorders and (b) whether patient

  3. 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...

  4. Family Rituals and Quality of Life in Children With Cancer and Their Parents: The Role of Family Cohesion and Hope

    Science.gov (United States)

    Crespo, Carla; Canavarro, M. Cristina; Kazak, Anne E.

    2015-01-01

    Objective Family rituals are associated with adaptive functioning in pediatric illness, including quality of life (QoL). This article explores the role of family cohesion and hope as mediators of this association in children with cancer and their parents. Methods Portuguese children with cancer (N = 389), on- and off-treatment, and one of their parents completed self-report measures. Structural equation modeling was used to examine direct and indirect links between family rituals and QoL. Results When children and parents reported higher levels of family rituals, they also reported more family cohesion and hope, which were linked to better QoL. At the dyadic level, children’s QoL was related to parents’ family rituals through the child’s family cohesion. This model was valid across child’s age-group, treatment status, and socioeconomic status. Conclusions Family rituals are important in promoting QoL in pediatric cancer via family cohesion and hope individually and via family cohesion in terms of parent–child interactions. PMID:25775914

  5. Long-term housing subsidies and SSI/SSDI income: Creating health-promoting contexts for families experiencing housing instability with disabilities.

    Science.gov (United States)

    Glendening, Zachary S; McCauley, Erin; Shinn, Marybeth; Brown, Scott R

    2018-04-01

    Though disability and housing instability are discussed separately in public health literature, few studies address families at their intersection. As a result, little is known about families who experience both homelessness and disability, how many receive disability benefits like SSI and SSDI, or the influence of those benefits on health-promoting outcomes like housing stability and self-sufficiency. Moreover, no previous research compares the ability of different housing and service interventions to increase disability benefit access. We examine relationships between disabilities and SSI/SSDI income reported when families enter emergency shelters and later health-promoting outcomes (housing stability and self-sufficiency) and how housing interventions affect SSI/SSDI receipt. Families in the (name removed) Study (N = 1857) were interviewed in emergency shelters, randomly offered of one of three housing interventions or usual care (i.e., no immediate referral to any intervention beyond shelter), and re-interviewed 20 months later. A third of families reported a disability at shelter entry. SSI/SSDI coverage of these families increased nearly 10% points over 20 months but never exceeded 40%. Disabilities predicted greater housing instability, food insecurity, and economic stress and less work and income. Among families reporting disabilities, SSI/SSDI receipt predicted fewer returns to emergency shelter, and more income despite less work. Offers of long-term housing subsidies increased SSI/SSDI receipt. Many families experiencing homelessness have disabilities; those receiving SSI/SSDI benefits have better housing and income outcomes. Providing families experiencing homelessness with long-term housing subsidies and SSI/SSDI could improve public health. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Talking (or not) about family health history in families of Latino young adults.

    Science.gov (United States)

    Corona, Rosalie; Rodríguez, Vivian; Quillin, John; Gyure, Maria; Bodurtha, Joann

    2013-10-01

    Although individuals recognize the importance of knowing their family's health history for their own health, relatively few people (e.g., less than a third in one national survey) collect this type of information. This study examines the rates of family communication about family health history of cancer, and predictors of communication in a sample of English-speaking Latino young adults. A total of 224 Latino young adults completed a survey that included measures on family communication, cultural factors, religious commitment, and cancer worry. We found that few Latino young adults reported collecting information from their families for the purposes of creating a family health history (18%) or sharing information about hereditary cancer risk with family members (16%). In contrast, slightly more than half of the participants reported generally "talking with their mothers about their family's health history of cancer." Logistic regression results indicated that cancer worry (odds ratio [OR] = 2.31; 95% confidence interval [CI] = 1.08-4.93), being female (OR = 3.12; 95% CI = 1.02-8.08), and being older (OR = 1.33; 95% CI = 1.01-1.76) were associated with increased rates of collecting information from family members. In contrast, orientation to the Latino culture (OR = 2.81; 95% CI = 1.33-5.94) and religious commitment (OR = 1.54; 95% CI = 1.02-2.32) were associated with increased rates of giving cancer information. Results highlight the need for prevention programs to help further general discussions about a family's history of cancer to more specific information related to family health history.

  7. Population estimates of extended family structure and size.

    Science.gov (United States)

    Garceau, Anne; Wideroff, Louise; McNeel, Timothy; Dunn, Marsha; Graubard, Barry I

    2008-01-01

    Population-based estimates of biological family size can be useful for planning genetic studies, assessing how distributions of relatives affect disease associations with family history and estimating prevalence of potential family support. Mean family size per person is estimated from a population-based telephone survey (n = 1,019). After multivariate adjustment for demographic variables, older and non-White respondents reported greater mean numbers of total, first- and second-degree relatives. Females reported more total and first-degree relatives, while less educated respondents reported more second-degree relatives. Demographic differences in family size have implications for genetic research. Therefore, periodic collection of family structure data in representative populations would be useful. Copyright 2008 S. Karger AG, Basel.

  8. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

    Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

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

    Science.gov (United States)

    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.

  10. Family Conflict and Children's Self-Concepts: A Comparison of Intact and Single-Parent Families.

    Science.gov (United States)

    Raschke, Helen J.; Raschke, Vernon J.

    1979-01-01

    Using the Piers-Harris Children's Self-Concept Scale to measure self-concept, and self-reports for family structure and family conflict, no significant differences in self-concept scores of children from intact, single-parent, reconstituted, or other types of families were found. Self-concept scores were significantly lower for children reporting…

  11. The First Teenage Pregnancy in the Family: Does It Affect Mothers’ Parenting, Attitudes, or Mother-Adolescent Communication?

    Science.gov (United States)

    East, Patricia L.

    2013-01-01

    To understand the consequences of adolescent pregnancy and childbearing for the family, 189 mothers from three types offamilies were studied: families in which all teenage daughters had never been pregnant, families in which only one teenager was currently pregnant, and families in which only one teenager had delivered a baby within the previous 6 months. in the latter two family types, the current pregnancy or childbearing was the first to occur in the family. Mothers were assessed twice, 13 months apart. Results indicated that, compared with the mothers of never-pregnant teens, the mothers of parenting teens monitored their children less. expected less of their older daughters, and were more accepting of teenage childbearing. Across-time analyses showed that, in families in which the teenager was initially pregnant, mothers monitored and communicated less with their other children and were more accepting of teenage sex after the older daughter gave birth. In families in which the teenager was initially parenting, mothers perceived more difficulty for their teenage daughters and reported being less strict with their other children across time. PMID:23700352

  12. A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

    DEFF Research Database (Denmark)

    Kjær, Klaus Wilbrandt; Hansen, Lars; Eiberg, Hans

    2005-01-01

    A phenotype-genotype correlation was previously described for carriers of different sized of polyalanine expansions in HOXD13. We report on a detailed comparison of 55 members (approximately 220 limbs) from 4 Danish families with duplications of 21 or 27 bp, expanding the polyalanine repeat from ...

  13. A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Heiskari, N; Zhou, J

    1995-01-01

    diagnosis on chorionic villi tissue, obtained from one of the female carriers in the family, revealed a male fetus hemizygous for the mutated allele. A subsequent prenatal test in her next pregnancy revealed a normal male fetus. Prenatal diagnosis of Alport syndrome has not previously been reported....

  14. Developmental expression of Drosophila Wiskott-Aldrich Syndrome family proteins

    Science.gov (United States)

    Rodriguez-Mesa, Evelyn; Abreu-Blanco, Maria Teresa; Rosales-Nieves, Alicia E.; Parkhurst, Susan M.

    2012-01-01

    Background Wiskott-Aldrich Syndrome (WASP) family proteins participate in many cellular processes involving rearrangements of the actin cytoskeleton. To the date, four WASP subfamily members have been described in Drosophila: Wash, WASp, SCAR, and Whamy. Wash, WASp, and SCAR are essential during early Drosophila development where they function in orchestrating cytoplasmic events including membrane-cytoskeleton interactions. A mutant for Whamy has not yet been reported. Results We generated monoclonal antibodies that are specific to Drosophila Wash, WASp, SCAR, and Whamy, and use these to describe their spatial and temporal localization patterns. Consistent with the importance of WASP family proteins in flies, we find that Wash, WASp, SCAR, and Whamy are dynamically expressed throughout oogenesis and embryogenesis. For example, we find that Wash accumulates at the oocyte cortex. WASp is highly expressed in the PNS, while SCAR is the most abundantly expressed in the CNS. Whamy exhibits an asymmetric subcellular localization that overlaps with mitochondria and is highly expressed in muscle. Conclusion All four WASP family members show specific expression patterns, some of which reflect their previously known roles and others revealing new potential functions. The monoclonal antibodies developed offer valuable new tools to investigate how WASP family proteins regulate actin cytoskeleton dynamics. PMID:22275148

  15. A Bayesian phylogenetic study of the Dravidian language family

    Science.gov (United States)

    Kolipakam, Vishnupriya

    2018-01-01

    The Dravidian language family consists of about 80 varieties (Hammarström H. 2016 Glottolog 2.7) spoken by 220 million people across southern and central India and surrounding countries (Steever SB. 1998 In The Dravidian languages (ed. SB Steever), pp. 1–39: 1). Neither the geographical origin of the Dravidian language homeland nor its exact dispersal through time are known. The history of these languages is crucial for understanding prehistory in Eurasia, because despite their current restricted range, these languages played a significant role in influencing other language groups including Indo-Aryan (Indo-European) and Munda (Austroasiatic) speakers. Here, we report the results of a Bayesian phylogenetic analysis of cognate-coded lexical data, elicited first hand from native speakers, to investigate the subgrouping of the Dravidian language family, and provide dates for the major points of diversification. Our results indicate that the Dravidian language family is approximately 4500 years old, a finding that corresponds well with earlier linguistic and archaeological studies. The main branches of the Dravidian language family (North, Central, South I, South II) are recovered, although the placement of languages within these main branches diverges from previous classifications. We find considerable uncertainty with regard to the relationships between the main branches. PMID:29657761

  16. An Evaluability Assessment of the Toyota Families in Schools Program.

    Science.gov (United States)

    Quint, Janet

    The Toyota Families in Schools (TFS) Program is a new family literacy initiative that was developed by the National Center for Family Literacy (NCFL) with support from the Toyota Motor Corporation. TFS is based on a previous NCFL model calling for providing literacy activities to preschoolers and parents from low-income families. NCFL wanted to…

  17. Adolescent attachment, family functioning and depressive symptoms

    Directory of Open Access Journals (Sweden)

    Nishola Rawatlal

    2015-08-01

    Full Text Available Background. Adolescence represents a challenging transitional period where changes in biological, emotional, cognitive and social domains can increase the risk of developing internalised problems including subthreshold depression. Adolescent-parent attachment style, perceived support and family functioning may increase risk for depressive symptoms or may reduce such risk. Adolescent-parent attachment, adolescent-perceived support from parents and family functioning were examined as correlates of depressive symptom presentation within this age group. Methods. Participants included a maternal parent and an adolescent (65.5% female from each family. Adolescents were in Grade 7 (n=175 or Grade 10 (n=31. Data were collected through home interviews. The Self-Report of Family Inventory (SFI, Experiences of Close Relationships Scale (ECR, Network of Relationships Inventory (NRI, Children’s Depression Inventory (CDI and Child Behavior Checklist (CBCL were used to assess depression, parental support and attachment.  Results. Two models were examined: one with adolescent report of depressive symptoms as the outcome and a second with parent report of adolescent internalising symptoms as the outcome. The model predicting adolescent-reported depressive symptoms was significant with older age, higher levels of avoidant attachment, and higher levels of youth-reported dysfunctional family interaction associated with more depressive symptomatology. In the model predicting parent report of adolescent internalising symptoms only higher levels of dysfunctional family interaction, as reported by the parent, were associated with higher levels of internalising symptoms. Conclusion. Positive family communication, cohesion and support predictive of a secure parent-adolescent attachment relationship reduced the risk of a depressive symptom outcome. Secure adolescents were able to regulate their emotions, knowing that they could seek out secure base attachment relations

  18. The Job Costs of Family Demands: Gender Differences in Negative Family-to-Work Spillover

    Science.gov (United States)

    Keene, Jennifer Reid; Reynolds, John R.

    2005-01-01

    This article uses the 1992 National Study of the Changing Workforce to examine family and workplace factors contributing to gender differences in negative family-to-work spillover. We focus on spillover as manifested when family demands negatively affect job performance. Among married workers, women were twice as likely as men to report that…

  19. Perceived benefits and barriers to leisure-time physical activity during pregnancy in previously inactive and active women.

    Science.gov (United States)

    Da Costa, Deborah; Ireland, Kierla

    2013-01-01

    This study compared perceived benefits and barriers to leisure-time physical activity during pregnancy among women who were insufficiently active or inactive before pregnancy. Eighty-two pregnant women completed questionnaires assessing leisure-time physical activity benefits/barriers, exercise self-efficacy, social support, depressed mood, pre-pregnancy and current physical activity and fatigue. Multivariable regression analyses identified factors associated with exercise benefits/barriers for the two pre-pregnancy leisure-time physical activity groups. Both pre-pregnancy leisure-time physical activity groups reported more benefits than barriers to exercise during pregnancy. Previously inactive women reported fewer perceived benefits and greater perceived barriers to leisure-time physical activity during pregnancy. Higher self-efficacy for exercise during pregnancy was significantly associated with greater benefits of leisure-time physical activity during pregnancy for both groups. Less family support for exercise and lower self-efficacy for exercise were significantly related to greater leisure-time physical activity barriers during pregnancy for previously inactive women. Lower self-efficacy for exercise, higher depressed mood scores, and younger age were associated with greater leisure-time physical activity barriers for active women. Findings suggest that the intensities of perceived leisure-time physical activity benefits and barriers during pregnancy differ for women, depending on their pre-pregnancy leisure-time physical activity status. Consideration of pre-pregnancy leisure-time physical activity status may thus be important when tailoring strategies to overcome barriers to promote initiation and maintenance of physical activity during pregnancy.

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

    Science.gov (United States)

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

    2015-04-01

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

  1. Family perspectives about Down syndrome.

    Science.gov (United States)

    Skotko, Brian G; Levine, Susan P; Macklin, Eric A; Goldstein, Richard D

    2016-04-01

    National medical organizations recommend that during prenatal counseling sessions, healthcare providers discuss how having a child with Down syndrome (DS) might impact the family unit. Few studies, to date, have surveyed families about their life experiences. For this investigation, we examined 41 family attitudes, which were obtained from mailed questionnaires completed by 1,961 parents/guardians, 761 brothers/sisters, and 283 people with DS who were members of six DS non-profit organizations, chosen for their size, ethnic/racial diversities, and geographic distribution throughout the United States. About 83% of families reported to all being proud of the family member with DS, and 87% reported to all feeling love for the member with DS. Younger siblings (ages 9-11) were more likely to feel embarrassed by their sibling with DS if their parents/guardians also did. If one or more parents/guardians felt that their children without DS did have a good relationship with their child with DS, siblings were more likely to report that they loved and liked their brother/sister with DS. Overall, our data demonstrate that positive themes tend to dominate within modern-day families who have members with DS, although challenges were not insignificant for some. © 2015 Wiley Periodicals, Inc.

  2. Successful treatment of familial congenital chylothorax by ligation of the thoracic duct: A case report

    Directory of Open Access Journals (Sweden)

    Leopoldini Dori

    2017-01-01

    Full Text Available A full term boy was admitted with respiratory distress in the fourth week of his life due to spontaneous chylothorax in his right hemithorax. Spontaneous chylothorax occurred previously in a first cousin of the neonate establishing that way the final diagnosis of familial idiopathic congenital pneumothorax. Failure of the conservative treatment consisting of chest tube drainage, discontinuation of oral diet and administration of total parenteral nutrition in combination with octreotide for one month was followed by the successful ligation of the thoracic duct through a right thoracotomy. The boy still remains free of symptoms and without recurrence of the chylothorax two years later.

  3. Familial trends in a population with macular holes.

    Science.gov (United States)

    Kay, Christine Nichols; Pavan, Peter Reed; Small, Laurie Buccina; Zhang, Tao; Zamba, Gideon K D; Cohen, Steven Myles

    2012-04-01

    To determine if patients with macular hole report an increased family history of macular hole compared with control patients and compare the report of family history between patients with unilateral and bilateral macular holes. This was a multicenter case-control study. Charts of patients coded with diagnosis of macular hole were reviewed, and the diagnosis of idiopathic full-thickness macular hole was ascertained in 166 patients. The control group comprised 136 patients without macular hole or trauma who presented with senile cataract. Family history was obtained from all patients through a telephone interview. Six of 166 (3.6%) macular hole patients surveyed reported a history of macular hole in a primary relative compared with none of 136 (0.0%) control patients (odds ratio is infinity, with 95% confidence interval 1.295 to infinity); however, this finding may be explained by confounders such as age and number of family members. Two of the 142 (1.4%) patients with unilateral holes versus 4 of the 24 (16.7%) patients with bilateral holes reported a family history (odds ratio is 0.0714, with 95% confidence interval 0.0063 to 0.5537), and this finding remains significant when logistic regression is performed to evaluate variables of age and number of family members as potential confounders. There is an increased report of familial occurrence of macular hole in patients with macular holes compared with control patients; however, logistic regression relates this finding to variables of age and number of family members. Patients with bilateral macular holes are more likely to report a family history of macular hole than patients with unilateral macular holes, and this finding remains significant in the presence of age and number of family members. These findings may suggest a familial component to macular hole.

  4. Variability in Threshold for Medication Error Reporting Between Physicians, Nurses, Pharmacists, and Families.

    Science.gov (United States)

    Keefer, Patricia; Kidwell, Kelley; Lengyel, Candice; Warrier, Kavita; Wagner, Deborah

    2017-01-01

    Voluntary medication error reporting is an imperfect resource used to improve the quality of medication administration. It requires judgment by front-line staff to determine how to report enough to identify opportunities to improve patients' safety but not jeopardize that safety by creating a culture of "report fatigue." This study aims to provide information on interpretability of medication error and the variability between the subgroups of caregivers in the hospital setting. Survey participants included nursing, physician (trainee and graduated), patient/families, pharmacist across a large academic health system, including an attached free-standing pediatric hospital. Demographics and survey questions were collected and analyzed using Fischer's exact testing with SAS v9.3. Statistically significant variability existed between the four groups for a majority of the questions. This included all cases designated as administration errors and many, but not all, cases of prescribing events. Commentary provided in the free-text portion of the survey was sub-analyzed and found to be associated with medication allergy reporting and lack of education surrounding report characteristics. There is significant variability in the threshold to report specific medication errors in the hospital setting. More work needs to be done to further improve the education surrounding error reporting in hospitals for all noted subgroups. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  5. 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,…

  6. Family Structure, Maternal Dating, and Sexual Debut: Extending the Conceptualization of Instability.

    Science.gov (United States)

    Zito, Rena Cornell; De Coster, Stacy

    2016-05-01

    Family structure influences the risk of early onset of sexual intercourse. This study proposes that the family structures associated with risk-single-mother, step-parent, and cohabiting-influence early sexual debut due to family instability, including shifts in family structure and maternal dating, which can undermine parental control and transmit messages about the acceptability of nonmarital sex. Previous research has not considered maternal dating as a component of family instability, assuming single mothers who date and those who do not date experience comparable levels of family disruption and transmit similar messages about the acceptability of nonmarital sex. Hypotheses are assessed using logistic regression models predicting the odds of early onset of sexual intercourse among 9959 respondents (53 % female, 47 % male) from the National Longitudinal Study of Adolescent to Adult Health. Respondents were ages 12-17 at the first wave of data collection and 18-26 at the third wave, when respondents reported the age at which they first had sexual intercourse. Results show that maternal dating is a source of family instability with repercussions for early sexual debut. Parental control and permissive attitudes towards teenage sex and pregnancy link at-risk family structures and maternal dating to early sexual initiation among females, though these variables do not fully explain family structure and maternal dating effects. Among males, the influence of maternal dating on early sexual debut is fully explained by the learning of permissive sexual attitudes.

  7. Physically active families - de-bunking the myth? A qualitative study of family participation in physical activity.

    Science.gov (United States)

    Thompson, Janice L; Jago, R; Brockman, R; Cartwright, K; Page, A S; Fox, K R

    2010-03-01

    The benefits of physical activity for reducing obesity and related chronic diseases are well known. The need for more family-based interventions to increase physical activity is frequently cited in the literature; however, little is known about if and how families are physically active together, and what factors might influence family-based participation in regular physical activity. This study examined the types of activities (physical and sedentary) engaged in as a family and explored parents' perceptions of the importance, frequency, nature and barriers to family physical activity. Semi-structured telephone interviews were conducted with 30 parents (26 female, four male) of 10- to 11-year-old schoolchildren who attended either low, middle or high socio-economic status schools in Bristol, UK. Interviews were transcribed verbatim, anonymized and analysed using conventional content analysis. The majority of parents rated family engagement in physical activity as important, and identified benefits such as increased parent-child communication, spending time together, enjoyment, enhanced mental health, weight control and physical fitness. Despite these benefits most parents reported their families did little or no physical activity together as a family unit during the week, and any activities performed together were usually sedentary in nature. They reported increased family physical activity on the weekends but rarely including the full family unit simultaneously. Parents in two-parent households commonly paired off with one or more children because of complexities of schedules. Commonly reported barriers were busy lifestyles, diverse ages and interests of children and adults, bad weather, and lack of access to facilities, transportation and money to support activities. Family-based interventions might be more effective if they are designed to accommodate the complex demands and needs of two-parent and single-parent families and provide affordable, diverse activities

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

    Science.gov (United States)

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

    2013-01-01

    Parental employment provides many benefits to children's health. However, an increasing number of studies have observed associations between mothers' full-time employment and less healthful family food environments. Few studies have examined other ways in which parental employment may be associated with the family food environment, including the role of fathers' employment and parents' stress balancing work and home obligations. This study utilized data from Project F-EAT, a population-based study of a socio-demographically diverse sample of 3709 parents of adolescents living in a metropolitan area in the Midwestern United States, to examine cross-sectional associations between mothers' and fathers' employment status and parents' work-life stress with multiple aspects of the family food environment. Among parents participating in Project F-EAT, 64% of fathers and 46% of mothers were full-time employed, while 25% of fathers and 37% of mothers were not employed. Results showed that full-time employed mothers reported fewer family meals, less frequent encouragement of their adolescents' healthful eating, lower fruit and vegetable intake, and less time spent on food preparation, compared to part-time and not-employed mothers, after adjusting for socio-demographics. Full-time employed fathers reported significantly fewer hours of food preparation; no other associations were seen between fathers' employment status and characteristics of the family food environment. In contrast, higher work-life stress among both parents was associated with less healthful family food environment characteristics including less frequent family meals and more frequent sugar-sweetened beverage and fast food consumption by parents. Among dual-parent families, taking into account the employment characteristics of the other parent did not substantially alter the relationships between work-life stress and family food environment characteristics. While parental employment is beneficial for many

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

    Science.gov (United States)

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

    2012-08-01

    Parental employment provides many benefits to children's health. However, an increasing number of studies have observed associations between mothers' full-time employment and less healthful family food environments. Few studies have examined other ways in which parental employment may be associated with the family food environment, including the role of fathers' employment and parents' stress balancing work and home obligations. This study utilized data from Project F-EAT, a population-based study of a socio-demographically diverse sample of 3709 parents of adolescents living in a metropolitan area in the Midwestern United States, to examine cross-sectional associations between mothers' and fathers' employment status and parents' work-life stress with multiple aspects of the family food environment. Among parents participating in Project F-EAT, 64% of fathers and 46% of mothers were full-time employed, while 25% of fathers and 37% of mothers were not employed. Results showed that full-time employed mothers reported fewer family meals, less frequent encouragement of their adolescents' healthful eating, lower fruit and vegetable intake, and less time spent on food preparation, compared to part-time and not-employed mothers, after adjusting for socio-demographics. Full-time employed fathers reported significantly fewer hours of food preparation; no other associations were seen between fathers' employment status and characteristics of the family food environment. In contrast, higher work-life stress among both parents was associated with less healthful family food environment characteristics including less frequent family meals and more frequent sugar-sweetened beverage and fast food consumption by parents. Among dual-parent families, taking into account the employment characteristics of the other parent did not substantially alter the relationships between work-life stress and family food environment characteristics. While parental employment is beneficial for many

  10. Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2012-04-01

    Full Text Available Abstract Introduction Familial glucocorticoid deficiency, or hereditary unresponsiveness to adrenocorticotropic hormone, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Here, we report the case of an 18-month-old Egyptian boy with familial glucocorticoid deficiency. Case presentation An 18-month-old Egyptian boy was referred to our institution for evaluation of generalized hyperpigmentation of the body associated with recurrent convulsions; one of his siblings, who had died at the age of nine months, also had generalized hyperpigmentation of the body. The initial clinical examination revealed generalized symmetrical deep hyperpigmentation of the body as well as hypotonia, normal blood pressure and normal male genitalia. He had low blood glucose and cortisol levels, normal aldosterone and high adrenocorticotropic hormone levels. Based on the above mentioned data, a provisional diagnosis of familial glucocorticoid deficiency was made, which was confirmed by a molecular genetics study. Oral hydrocortisone treatment at a dose of 10 mg/m2/day was started. The child was followed up after two months of treatment; the hyperpigmentation has lessened in comparison with his initial presentation and his blood sugar and cortisol levels were normalized. Conclusion Familial glucocorticoid deficiency is a rare, treatable disease that can be easily missed due to nonspecific presentations. The consequences of delayed diagnosis and treatment are associated with high rates of morbidity and mortality.

  11. Global history of the ancient monocot family Araceae inferred with models accounting for past continental positions and previous ranges based on fossils.

    Science.gov (United States)

    Nauheimer, Lars; Metzler, Dirk; Renner, Susanne S

    2012-09-01

    The family Araceae (3790 species, 117 genera) has one of the oldest fossil records among angiosperms. Ecologically, members of this family range from free-floating aquatics (Pistia and Lemna) to tropical epiphytes. Here, we infer some of the macroevolutionary processes that have led to the worldwide range of this family and test how the inclusion of fossil (formerly occupied) geographical ranges affects biogeographical reconstructions. Using a complete genus-level phylogeny from plastid sequences and outgroups representing the 13 other Alismatales families, we estimate divergence times by applying different clock models and reconstruct range shifts under different models of past continental connectivity, with or without the incorporation of fossil locations. Araceae began to diversify in the Early Cretaceous (when the breakup of Pangea was in its final stages), and all eight subfamilies existed before the K/T boundary. Early lineages persist in Laurasia, with several relatively recent entries into Africa, South America, South-East Asia and Australia. Water-associated habitats appear to be ancestral in the family, and DNA substitution rates are especially high in free-floating Araceae. Past distributions inferred when fossils are included differ in nontrivial ways from those without fossils. Our complete genus-level time-scale for the Araceae may prove to be useful for ecological and physiological studies. © 2012 The Authors. New Phytologist © 2012 New Phytologist Trust.

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

    Science.gov (United States)

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

    2018-03-01

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

  13. Family Rituals and Quality of Life in Children With Cancer and Their Parents: The Role of Family Cohesion and Hope.

    Science.gov (United States)

    Santos, Susana; Crespo, Carla; Canavarro, M Cristina; Kazak, Anne E

    2015-08-01

    Family rituals are associated with adaptive functioning in pediatric illness, including quality of life (QoL). This article explores the role of family cohesion and hope as mediators of this association in children with cancer and their parents. Portuguese children with cancer (N = 389), on- and off-treatment, and one of their parents completed self-report measures. Structural equation modeling was used to examine direct and indirect links between family rituals and QoL. When children and parents reported higher levels of family rituals, they also reported more family cohesion and hope, which were linked to better QoL. At the dyadic level, children's QoL was related to parents' family rituals through the child's family cohesion. This model was valid across child's age-group, treatment status, and socioeconomic status. Family rituals are important in promoting QoL in pediatric cancer via family cohesion and hope individually and via family cohesion in terms of parent-child interactions. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  14. In our own voice-family companion: reducing self-stigma of family members of persons with serious mental illness.

    Science.gov (United States)

    Perlick, Deborah A; Nelson, Ann H; Mattias, Kate; Selzer, James; Kalvin, Carla; Wilber, Charles H; Huntington, Brittney; Holman, Caroline S; Corrigan, Patrick W

    2011-12-01

    This article reports preliminary findings from a novel, family peer-based intervention designed to reduce self-stigma among family members of people with serious mental illness. A total of 158 primary caregivers of patients with schizophrenia were recruited from a large urban mental health facility (93 caregivers) or from a family and consumer advocacy organization (65 caregivers). Caregivers (N=122) who reported they perceived at least a moderate level of mental illness-related stigma were evaluated on measures of self-stigma, withdrawal, secrecy, anxiety, and social comparison and randomly assigned to receive one of two, one-session group interventions: a peer-led intervention (In Our Own Voice-Family Companion [IOOV-FC]) designed to stimulate group discussion or a clinician-led family education session, which delivered information about mental illness in a structured, didactic format. IOOV-FC consisted of playing a videotape of family members who describe their experiences coping with stigma, which was followed by a discussion led by two family peers who modeled sharing their own experiences and facilitated group sharing. Of 24 family members and ten consumers, 96% rated the videotape above a predetermined acceptability threshold on a 19-item scale assessing cultural sensitivity, respect for different stakeholders, relevance of content, and technical quality (α=.92). Caregivers receiving IOOV-FC with low to moderate pretreatment anxiety reported a substantial reduction in self-stigma (effect size=.50) relative to those receiving clinician-led family education (p=.017) as well as significant reductions in secrecy (p=.031). Peer-led group interventions may be more effective in reducing family self-stigma than clinician-led education, at least for persons reporting experiencing low to moderate anxiety levels on a standard questionnaire

  15. Lipoprotein-associated phospholipase A(2) mass and activity in children with heterozygous familial hypercholesterolemia and unaffected siblings: Effect of pravastatin

    NARCIS (Netherlands)

    Ryu, Sung Kee; Hutten, Barbara A.; Vissers, Maud N.; Wiegman, Albert; Kastelein, John J. P.; Tsimikas, Sotirios

    2011-01-01

    BACKGROUND: Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) is an independent risk factor of cardiovascular disease and a target of treatment. Lp-PLA(2) levels in children have not been previously reported. The effect of statin therapy on Lp-PLA(2) mass and activity in children with familial

  16. Size-dependent modification of asteroid family Yarkovsky V-shapes

    Science.gov (United States)

    Bolin, B. T.; Morbidelli, A.; Walsh, K. J.

    2018-04-01

    Context. The thermal properties of the surfaces of asteroids determine the magnitude of the drift rate cause by the Yarkovsky force. In the general case of Main Belt asteroids, the Yarkovsky force is indirectly proportional to the thermal inertia, Γ. Aim. Following the proposed relationship between Γ and asteroid diameter D, we find that asteroids' Yarkovsky drift rates might have a more complex size dependence than previous thought, leading to a curved family V-shape boundary in semi-major axis, a, vs. 1/D space. This implies that asteroids are drifting faster at larger sizes than previously considered decreasing on average the known ages of asteroid families. Methods: The V-Shape curvature is determined for >25 families located throughout the Main Belt to quantify the Yarkovsky size-dependent drift rate. Results: We find that there is no correlation between family age and V-shape curvature. In addition, the V-shape curvature decreases for asteroid families with larger heliocentric distances suggesting that the relationship between Γ and D is weaker in the outer MB possibly due to homogenous surface roughness among family members.

  17. Shunt malfunction causing acute neurological deterioration in 2 patients with previously asymptomatic Chiari malformation Type I. Report of two cases.

    Science.gov (United States)

    Elliott, Robert; Kalhorn, Stephen; Pacione, Donato; Weiner, Howard; Wisoff, Jeffrey; Harter, David

    2009-08-01

    Patients with symptomatic Chiari malformation Type I (CM-I) typically exhibit a chronic, slowly progressive disease course with evolution of symptoms. However, some authors have reported acute neurological deterioration in the setting of CM-I and acquired Chiari malformations. Although brainstem dysfunction has been documented in patients with CM-II and hydrocephalus or shunt malfunction, to the authors' knowledge only 1 report describing ventriculoperitoneal (VP) shunt malfunction causing neurological deterioration in a patient with CM-I exists. The authors report on their experience with the treatment of previously asymptomatic CM-I in 2 children who experienced quite different manifestations of acute neurological deterioration secondary to VP shunt malfunction. Presumably, VP shunt malfunction created a positive rostral pressure gradient across a stenotic foramen magnum, resulting in tetraparesis from foramen magnum syndrome in 1 patient and acute ataxia and cranial nerve deficits from syringobulbia in the other. Although urgent shunt revisions yielded partial recovery of neurological function in both patients, marked improvement occurred only after posterior fossa decompression.

  18. Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

    Science.gov (United States)

    Mork, Maureen E; Rodriguez, Andrea; Taggart, Melissa W; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Bannon, Sarah A; You, Y Nancy; Vilar, Eduardo

    2017-07-01

    Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. Four probands whose Lynch syndrome-associated tumors demonstrated absence of MSH2/MSH6 staining and who had negative MMR germline testing were evaluated for the MSH2 inversion of exons 1-7, offered during initial genetic workup or upon routine clinical follow-up. All four probands tested positive for the MSH2 inversion. Proband cancer diagnoses included colon and endometrial adenocarcinoma and sebaceous adenoma. A variety of Lynch syndrome-associated cancers were reported in the family histories, although only one family met Amsterdam II criteria. Thirteen at-risk relatives underwent predictive testing. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing. This testing should be offered routinely to patients with tumors demonstrating loss of MSH2/MSH6 staining.

  19. Alternative Families and Children: Implications for Education.

    Science.gov (United States)

    Alexander, Jannette; Eiduson, Bernice T.

    1980-01-01

    Since 1973, the UCLA Family Styles Project has studied a sample of nontraditional Caucasian families (single mothers, social contract families, communal families) plus a comparison group of conventional nuclear families. Findings are reported on parents' personal/social values and changes in childrearing practices. Implications for education are…

  20. Bounding CKM mixing with a fourth family

    International Nuclear Information System (INIS)

    Chanowitz, Michael S.

    2009-01-01

    CKM mixing between third-family quarks and a possible fourth family is constrained by global fits to the precision electroweak data. The dominant constraint is from nondecoupling oblique corrections rather than the vertex correction to Z→bb used in previous analyses. The possibility of large mixing suggested by some recent analyses of flavor-changing neutral-current processes is excluded, but 3-4 mixing of the same order as the Cabbibo mixing of the first two families is allowed.

  1. A revised Self- and Family Management Framework.

    Science.gov (United States)

    Grey, Margaret; Schulman-Green, Dena; Knafl, Kathleen; Reynolds, Nancy R

    2015-01-01

    Research on self- and family management of chronic conditions has advanced over the past 6 years, but the use of simple frameworks has hampered the understanding of the complexities involved. We sought to update our previously published model with new empirical, synthetic, and theoretical work. We used synthesis of previous studies to update the framework. We propose a revised framework that clarifies facilitators and barriers, processes, proximal outcomes, and distal outcomes of self- and family management and their relationships. We offer the revised framework as a model that can be used in studies aimed at advancing self- and family management science. The use of the framework to guide studies would allow for the design of studies that can address more clearly how self-management interventions work and under what conditions. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Irregular breakfast consumption in adolescence and the family environment: underlying causes by family structure.

    Science.gov (United States)

    Levin, Kate A; Kirby, Joanna

    2012-08-01

    Data from the 2002, 2006 and 2010 Scottish Health Behaviour in School-aged Children (HBSC) surveys were analysed using logistic multilevel regression for outcome variable irregular breakfast consumption (IBC). IBC prevalence in Scotland was higher among young people from reconstituted and single parent families, and particularly single father families. Family characteristics, found previously to be associated with breakfast consumption, such as number of siblings, perceived parenting, parental involvement and family affluence, differed by family structure. Family structure inequalities in IBC existed, also after adjustment for year and child's sex, age, grade and ethnicity. Across all family structures, IBC was more prevalent at the older age groups, among those who had difficult communication with their parents, and where household routines were infrequent. Greater number of siblings and lower family affluence were associated with higher odds of IBC in single mother and both parent families, while having a second home was associated with higher odds in reconstituted households. Fair parenting and being close to at least one parent was associated with reduced odds of IBC in single mother households, while being close to all parents was in single father households. In single mother homes, having a working mother was also positively associated with IBC. Family structure differences should be considered when addressing irregular breakfast consumption in adolescence. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. IGSF9 Family Proteins

    DEFF Research Database (Denmark)

    Hansen, Maria; Walmod, Peter Schledermann

    2013-01-01

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

  4. Intergenerational continuity in high conflict family environments

    Science.gov (United States)

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

    2016-01-01

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

  5. Advancing family psychology.

    Science.gov (United States)

    Fiese, Barbara H

    2016-02-01

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

  6. Family relationships and the psychosocial adjustment of school-aged children in intact families

    NARCIS (Netherlands)

    Hakvoort, E.M.; Bos, H.M.W.; van Balen, F.; Hermanns, J.M.A.

    2010-01-01

    The authors investigated whether the quality of three family relationships (i.e., marital, parent-child, sibling) in intact families are associated with each other and with children's psychosocial adjustment. Data were collected by means of maternal and child reports (N = 88) using standardized

  7. Process cells dismantling of EUREX pant: previous activities

    International Nuclear Information System (INIS)

    Gili, M.

    1998-01-01

    In the '98-'99 period some process cells of the EUREX pant will be dismantled, in order to place there the liquid wastes conditioning plant 'CORA'. This report resumes the previous activities (plant rinsing campaigns and inactive Cell 014 dismantling), run in the past three years and the drawn experience [it

  8. Life in Remarriage Families.

    Science.gov (United States)

    Dahl, Ann Sale; And Others

    1987-01-01

    In preliminary findings from research interviews with nonclinical remarriage families who were not receiving treatment, both marital satisfaction and children's adjustment were described in primarily positive terms, especially after the first few years. Families reported that the process of managing complexities, uncertainties, and mixed feelings…

  9. Family cohesion, acculturation, maternal cortisol, and preterm birth in Mexican-American women

    Directory of Open Access Journals (Sweden)

    Ruiz RJ

    2013-05-01

    Full Text Available R Jeanne Ruiz,1 Rita H Pickler,2 C Nathan Marti,3 Nancy Jallo41College of Nursing, The Ohio State University, Columbus, OH, USA; 2Department of Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; 3Abacist Analytics, Austin, TX, USA; 4School of Nursing, Virginia Commonwealth University, Richmond, VA, USAObjective: To examine the potential moderating effects of family cohesion and acculturation on the physiological stress response (cortisol as a predictor of preterm birth (PTB in pregnant Mexican-American women.Methods: The sample included 470 participants; 33 had preterm births. All participants were self-identified as Mexican-American. In this cross-sectional study, family cohesion was measured by a self-report questionnaire. Acculturation was measured by self-report questionnaire as well as by years in the United States and country of birth. Stress was measured by serum cortisol. All measures were obtained at 22—24 weeks gestation. Additional data including history of PTB were obtained from the health record. Data analysis was primarily conducted using logistic regression.Results: The relationship between stress and PTB was predicted by family cohesion (estimate/standard error [E/SE] = —2.46, P = 0.014 and acculturation (E/SE = 2.56, P = 0.011. In addition, there was an interaction between family cohesion and history of previous PTB (E/SE = —2.12, P = 0.035.Conclusion: Results indicate that the impact of cortisol on PTB is predicted by acculturation and family cohesion such that higher levels of cortisol in conjunction with higher levels of acculturation and lower levels of family cohesion are associated with increased risk of PTB. In addition, low family cohesion in combination with a history of PTB was associated with higher levels of PTB. Assessment of family cohesion, including problem solving, adherence to family decisions, family shared space, and activity, should be included as part of prenatal

  10. Si dios quiere: Hispanic families' experiences of caring for a seriously mentally ill family member.

    Science.gov (United States)

    Guarnaccia, P J; Parra, P; Deschamps, A; Milstein, G; Argiles, N

    1992-06-01

    Among Hispanics, the family is viewed as the primary care giver for seriously mentally ill family members. This paper reports on a study of minority families' conceptions of serious mental illness, of their interaction with mental health resources, and on the burdens experienced by families in caring for a seriously mentally ill family member. The focus of this paper is on Hispanic families in New Jersey, with some comparative data from other ethnic group families. Families' conceptions of serious mental illness are explored and analyzed to demonstrate the importance of concepts of nervios and fallo mental in shaping families' responses to their ill family member. Social support systems for families are also explored with particular attention to the role of religious institutions and religious healing as a major source of solace.

  11. Defense.gov Special Report: Feds Feed Families

    Science.gov (United States)

    defense for civilian personnel policy. Story Mark McCaffrey Featured at FFF Rally Capital Area Food Bank community. For more information visit the Capital Area Food Bank. The Corporation for National and Community Feds Feed Families Website Capital Area Food Bank What Others Are Doing FFF People, Pets and Paper

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

    Science.gov (United States)

    Sprung, Justin M; Jex, Steve M

    2017-04-01

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

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

    Science.gov (United States)

    Trickett, Edison J; Jones, Curtis J

    2007-04-01

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

  14. Family Violence and Other Potentially Traumatic Interpersonal Events Among 9- to 17-Year-Old Children Attending an Outpatient Psychiatric Clinic.

    Science.gov (United States)

    Hultmann, Ole; Broberg, Anders G

    2016-11-01

    Among children visiting child and adolescent mental health care (CAM), the prevalence of exposure to family violence (FV) is reported to exceed prevalence in community samples, as are potentially traumatic interpersonal events (IPE) outside the family. The aim of the study was to relate CAM patients' self-reported experiences of violence exposure to their current psychiatric symptoms and to compare patients exposed to violence with patients who reported no exposure. We asked 305 consecutive 9- to 17-year-old patients in CAM about their current and previous exposure to violence in and outside of the family. Prevalence of exposure to any kind of violence was 67%. Reported exposures were 19% to IPE, 21% to FV, and 27% to both. Children exposed to both FV and IPE were more negatively affected by the events than children exposed to FV or IPE only. Children in the FV + IPE group reported more mental health symptoms than those in the no violence (33%) group. In general, IPE was related to the outcome measures only in combination with FV. Degree of violence exposure seemed to have a dose-response relationship with the diagnosis of post-traumatic stress disorder. © The Author(s) 2015.

  15. [Familial astrocytoma associated with von Recklinghausen's disease: report of two cases].

    Science.gov (United States)

    Ito, Y; Oki, S; Mikami, T; Ogasawara, H; Kawamoto, Y; Sato, H; Yamaguchi, S; Hayashi, Y; Shindo, H

    1997-03-01

    Two cases of astrocytoma associated with von Recklinghausen's disease (neurofibromatosis type; NF-1) were reported. The first case wes a 60-year-old man who had been diagnosed as von Recklinghausen's disease on the basis of skin findings. Magnetic resonance imaging (MRI) showed a tumor in the left temporal lobe. Partial removal was performed with neuronavigator, and because of the existence of Rosenthal fiber the histological diagnosis was pilocytic astrocytoma. Radiation therapy was performed. The second case was a 6-year-old boy suffering from headache and left hemiparesis including his face. MRI showed a tumor with a cyst in the right thalamus and obstructive hydrocephalus. Initially CT-guided stereotactic biopsy was performed, and the histological diagnosis, on the basis of increased cellularity, pleomorphism and nuclear atypia without necrosis or vascular proliferation, was anaplastic astrocytoma. Radiation and chemo-immuno therapy were carried out after V-P shunt. It is well known that von Recklinghausen's disease (NF-1) is often associated with optic glioma (5-36%). In the literature, the glioma seldom occurs in other parts of the brain, supratentorial glioma especially is rare. Only two familial cases of supratentorial glioma associated with von Recklinghausen's disease have been reported. The prognosis of supratentorial glioma associated with NF-1 was poor in these reports. In this paper, the diagnostic and therapeutic problems are discussed.

  16. The etiology of social aggression: a nuclear twin family study.

    Science.gov (United States)

    Slawinski, Brooke L; Klump, Kelly L; Burt, S Alexandra

    2018-04-02

    Social aggression is a form of antisocial behavior in which social relationships and social status are used to damage reputations and inflict emotional harm on others. Despite extensive research examining the prevalence and consequences of social aggression, only a few studies have examined its genetic-environmental etiology, with markedly inconsistent results. We estimated the etiology of social aggression using the nuclear twin family (NTF) model. Maternal-report, paternal-report, and teacher-report data were collected for twin social aggression (N = 1030 pairs). We also examined the data using the classical twin (CT) model to evaluate whether its strict assumptions may have biased previous heritability estimates. The best-fitting NTF model for all informants was the ASFE model, indicating that additive genetic, sibling environmental, familial environmental, and non-shared environmental influences significantly contribute to the etiology of social aggression in middle childhood. However, the best-fitting CT model varied across informants, ranging from AE and ACE to CE. Specific heritability estimates for both NTF and CT models also varied across informants such that teacher reports indicated greater genetic influences and father reports indicated greater shared environmental influences. Although the specific NTF parameter estimates varied across informants, social aggression generally emerged as largely additive genetic (A = 0.15-0.77) and sibling environmental (S = 0.42-0.72) in origin. Such findings not only highlight an important role for individual genetic risk in the etiology of social aggression, but also raise important questions regarding the role of the environment.

  17. Family functioning in two treatments for adolescent anorexia nervosa.

    Science.gov (United States)

    Ciao, Anna C; Accurso, Erin C; Fitzsimmons-Craft, Ellen E; Lock, James; Le Grange, Daniel

    2015-01-01

    Family functioning impairment is widely reported in the eating disorders literature, yet few studies have examined the role of family functioning in treatment for adolescent anorexia nervosa (AN). This study examined family functioning in two treatments for adolescent AN from multiple family members' perspectives. Participants were 121 adolescents with AN ages 12-18 from a randomized-controlled trial comparing family-based treatment (FBT) to individual adolescent-focused therapy (AFT). Multiple clinical characteristics were assessed at baseline. Family functioning from the perspective of the adolescent and both parents was assessed at baseline and after 1 year of treatment. Full remission from AN was defined as achieving both weight restoration and normalized eating disorder psychopathology. In general, families dealing with AN reported some baseline impairment in family functioning, but average ratings were only slightly elevated compared to published impaired functioning cutoffs. Adolescents' perspectives on family functioning were the most impaired and were generally associated with poorer psychosocial functioning and greater clinical severity. Regardless of initial level of family functioning, improvements in several family functioning domains were uniquely related to full remission at the end of treatment in both FBT and AFT. However, FBT had a more positive impact on several specific aspects of family functioning compared to AFT. Families seeking treatment for adolescent AN report some difficulties in family functioning, with adolescents reporting the greatest impairment. Although FBT may be effective in improving some specific aspects of family dynamics, remission from AN was associated with improved family dynamics, regardless of treatment type. © 2014 Wiley Periodicals, Inc.

  18. Components of family history associated with women's disease perceptions for cancer: a report from the Family Healthware™ Impact Trial.

    Science.gov (United States)

    Rubinstein, Wendy S; O'neill, Suzanne M; Rothrock, Nan; Starzyk, Erin J; Beaumont, Jennifer L; Acheson, Louise S; Wang, Catharine; Gramling, Robert; Galliher, James M; Ruffin, Mack T

    2011-01-01

    To determine the specific components of family history and personal characteristics related to disease perceptions about breast, colon, and ovarian cancers. Baseline, cross-sectional data on 2,505 healthy women aged 35-65 years enrolled from 41 primary care practices in the cluster-randomized Family Healthware™ Impact Trial, assessed for detailed family history and perceived risk, perceived severity, worry, and perceived control over getting six common diseases including breast, colon, and ovarian cancers. Participants provided family history information on 41,841 total relatives. We found evidence of underreporting of paternal family history and lower perceived breast cancer risk with cancer in the paternal versus maternal lineage. We observed cancer-specific perceived risks and worry for individual family history elements and also found novel "spillover" effects where a family history of one cancer was associated with altered disease perceptions of another. Having a mother with early-onset breast or ovarian cancer was strongly associated with perceived risk of breast cancer. Age, parenthood, and affected lineage were associated with disease perceptions and ran counter to empiric risks. Understanding patients' formulation of risk for multiple diseases is important for public health initiatives that seek to inform risk appraisal, influence disease perceptions, or match preventive interventions to existing risk perceptions.

  19. The effects of organizational and community embeddedness on work-to-family and family-to-work conflict.

    Science.gov (United States)

    Ng, Thomas W H; Feldman, Daniel C

    2012-11-01

    The present study offers competing hypotheses regarding the relationships of changes in organizational and community embeddedness with changes in work-to-family and family-to-work conflict. Data were collected from 250 U.S. and 165 Chinese managers and professionals, all of whom were married, at 3 points in time over a 10-month period. Results suggest that increases in perceptions of organizational and community embeddedness are associated with increases in work-to-family conflict and family-to-work conflict over time. Further, we found that these effects were even stronger for employees with highly individualistic values. Thus, although much of the previous research has focused on the positive effects of employee embeddedness for individuals' work lives, the present study provides some evidence of the potentially negative effects of employee embeddedness for individuals' family lives. (c) 2012 APA, all rights reserved.

  20. Youth suicide: an insight into previous hospitalisation for injury and sociodemographic conditions from a nationwide cohort study.

    Science.gov (United States)

    Zambon, Francesco; Laflamme, Lucie; Spolaore, Paolo; Visentin, Cristiana; Hasselberg, Marie

    2011-06-01

    This study investigates the degree to which a previous hospitalisation for injury of any intent is a risk of subsequent youth suicide and whether this association is influenced by family socioeconomic status or economic stress. A nationwide register-based cohort study was conducted covering all Swedish subjects born between January 1977 and December 1991 (N=1,616,342, male/female ratio=1.05). The cohort subjects were followed-up from January 1998 to December 2003, when aged 7-26 years. Poisson regression and the likelihood ratio test (95% CI) were used to assess the age-adjusted effect of hospitalisation for injuries of various intent on youth suicide and its effect once adjusted for family sociodemographic and social circumstances. Each set of exposures was associated independently and significantly with suicide mortality. Being hospitalised for self-inflicted injuries or injuries of undetermined intent was associated with a risk of suicide 36 to 47 times, respectively, that of subjects never hospitalised in the period under study (95% CI 28.36 to 45.58 and 26.67 to 83.87 for self-inflicted injuries and for events of undetermined intent, respectively; overall psuicide (RR 3.08; 95% CI 2.26 to 4.19). These effects were solid and not substantially altered after adjustment for family demographic and socioeconomic circumstances. A strong association exists between previous hospitalisation for injury of any intent and youth suicide. The association is robust and unaltered by family socioeconomic circumstances.

  1. Keratitis–ichthyosis–deafness syndrome: first affected family reported in the Middle East

    Directory of Open Access Journals (Sweden)

    Al Fahaad H

    2014-03-01

    Full Text Available Hamad Al FahaadDepartment of Dermatology, College of Medicine, Najran University, Najran, Saudi ArabiaIntroduction: Keratitis–ichthyosis–deafness (KID syndrome is a rare congenital multisystem disorder affecting certain tissues of ectodermal origin such as epidermis, cochlea, and cornea, leading mainly to palmoplantar hyperkeratosis, ichthyosiform scaling, deafness, and blindness. The author reports for the first time in the Middle East three family members suffering from KID syndrome in the southwestern part of Saudi Arabia.Case presentation: Three patients from one family (ages 26, 16, and 14 years of apparently normal parents, with the two eldest being females and the youngest being male. All three patients were referred from a peripheral hospital to our dermatology clinic due to recurrent cutaneous fungal infections on their trunk, forearms, legs, and nails. On full assessment, they also found to have nearly similar cutaneous problems manifested by palmoplantar hyperkeratosis, generalized ichthyosiform scaling, subungual hyperkeratosis, and nail dystrophies. All patients suffered from total hearing loss in both ears since childhood as confirmed by pure tune audiometry. However, there was no blindness in any case; blepharitis with marked photophobia was the only ocular complaint. All these features are classically suggestive of KID syndrome.Keywords: connexin 26, GJB2, ichthyosis, KID syndrome, palmoplantar hyperkeratosis

  2. 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...

  3. Support and monitoring of families after child abuse detection based on parental characteristics at the Emergency Department.

    Science.gov (United States)

    Diderich, H M; Pannebakker, F D; Dechesne, M; Buitendijk, S E; Oudesluys-Murphy, A M

    2015-03-01

    The 'Hague Protocol' enables professionals at the adult Emergency Department (ED) to detect child abuse based on three parental characteristics: (i) suicide attempt or self-harm, (ii) domestic violence or (iii) substance abuse, and to refer them to the Reporting Centre for Child Abuse and Neglect (RCCAN). This study investigates what had happened to the families three months after this referral. ED referrals based on parental characteristics (N = 100) in which child abuse was confirmed after investigation by the RCCAN were analysed. Information was collected regarding type of child abuse, reason for reporting, duration of problems prior to the ED referral, previous involvement of support services or other agencies, re-occurrence of the problems and outcome of the RCCAN monitoring according to professionals and the families. Of the 100 referred cases, 68 families were already known to the RCCAN, the police or family support services, prior to the ED referral. Of the 99 cases where information was available, existing support was continued or intensified in 31, a Child Protection Services (CPS) report had to be made in 24, new support was organized for 27 cases and in 17 cases support was not necessary, because the domestic problems were already resolved. Even though the RCCAN is mandated to monitor all referred families after three months, 31 cases which were referred internally were not followed up. Before referral by the ED two thirds of these families were already known to organizations. Monitoring may help provide a better, more sustained service and prevent and resolve domestic problems. A national database could help to link data and to streamline care for victims and families. We recommend a Randomized Controlled Trial to test the effectiveness of this Protocol in combination with the outcomes of the provided family support. © 2014 John Wiley & Sons Ltd.

  4. Field Test Evaluation of Conservation Retrofits of Low-Income Single Family Buildings in Wisconsin: Summary Report; TOPICAL

    International Nuclear Information System (INIS)

    Ternes, M.P.

    2001-01-01

    During the winter of 1985-86, a retrofit field test was performed in 66 occupied, low-income, single-family homes in Madison, Wisconsin. The primary objectives of the field test were to (1) determine the measured energy savings and the relative benefits of a combination of envelope and mechanical equipment retrofits that were selected following a new audit-directed retrofit procedure, (2) determine the energy savings and benefits due to performing infiltration reduction work following a recently developed infiltration reduction procedure, and (3) study general occupant behavior and house thermal characteristics and their possible change following retrofit installation. This report provides an overview of the project and summarizes the findings which will be presented in detail in separate reports. Major findings from the field test include: (1) The audit-directed retrofit procedure produced an average savings of 207 therms/year/house. The procedure also more than doubled the overall cost-effectiveness of the low-income weatherization assistance program as compared with the priority system formerly used in Wisconsin. Wall insulation and condensing furnaces were the major retrofits (predicted annual energy savings greater than 100 therms/year) most often selected under the procedure. The respective average energy savings of the houses receiving wall insulation and condensing furnace. s was 14.6 and 14.3 therms/year for each$100 spent on them under the program. (2) The blower-door-guided infiltration reduction procedure reduced expenditures for infiltration reduction to about one-fourth of previous program costs (from$570/house to$106/house). The procedure also reduced the average air leakage rate in the treated houses by 16%, whereas, in a previous study, no significant reduction was found following the installation of typical infiltration reduction measures. (3) Twenty to 60% of the deviation between predicted and measured savings can be attributed to incorrect

  5. What's for dinner? Types of food served at family dinner differ across parent and family characteristics.

    Science.gov (United States)

    Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A; Eisenberg, Marla E; Berge, Jerica

    2014-01-01

    To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors and meal-specific variables. A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009-2010. Homes of families with adolescents in Minneapolis/St. Paul urban area, MN, USA. Participants included 1923 parents/guardians (90·8% female; 68·5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times per week. Variables from within the sociodemographic domain (low educational attainment) psychosocial domain (high work-life stress, depressive symptoms, low family functioning) and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals.

  6. Prevalence and predictors of anxiety and depression among family caregivers of cancer patients: a nationwide survey of patient-family caregiver dyads in Korea.

    Science.gov (United States)

    Park, Boyoung; Kim, So Young; Shin, Ji-Yeon; Sanson-Fisher, Robert W; Shin, Dong Wook; Cho, Juhee; Park, Jong-Hyock

    2013-10-01

    This study aimed to identify the prevalence and predictors of anxiety and depression among family caregivers of patients with cancer in Korea. A national, multicenter, cross-sectional survey was conducted with 897 family caregivers. The Hospital Anxiety and Depression Scale was used to assess anxiety and depression in patient-family caregiver dyads. The prevalence of anxiety in family caregivers was 38.1 %:20.3 % reported mild anxiety, 13.3 % reported moderate anxiety, and 4.6 % reported severe anxiety. The prevalence of depression was 82.2 %:40.4 % reported mild depression, 25.5 % reported moderate depression, and 16.3 % reported severe depression. Family caregivers who were younger, were caring for male patients, or had a low quality of life (QOL) in relation to three of the variables measured in the Korean Caregiver Quality of Life Index-Cancer (CQOLC-K): burden, disturbance, and financial concerns reported increased anxiety. Becoming unemployed during caregiving, being the spouse of a patient and having low QOL in relation to three of the variables measured by the CQOLC-K: burden, disturbance, and positive adaptation were associated with depression among family caregivers. The predictive validity of the selected variables were 0.861 (95 % CI: 0.844-0.892) for anxiety and 0.794 (95 % CI: 0.751-0.828) for depression. Family caregivers of patients with cancer experienced high levels of anxiety and depression. Socio-demographic factors and QOL were predictors of anxiety and depression in family caregivers.

  7. LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

    Science.gov (United States)

    Al-Harbi, Khalid M; Abdallah, Atiyeh M

    2016-09-01

    We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure. This is only the second reported case of the p.L76F mutation in LGMD, and highlights that molecular genetics analysis is essential to deliver the most appropriate management to the patient and offer the family genetic counseling.

  8. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

    Science.gov (United States)

    Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

    2016-06-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica

    Directory of Open Access Journals (Sweden)

    Lizbeth Salazar-Sánchez

    2004-09-01

    Full Text Available Hemophilia Aand B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers. Rev. Biol. Trop. 52(3: 521-530. Epub 2004 Dic 15.La hemofilia A y B es una enfermedad hemorrágica hereditaria ligada al cromosoma X, producida por la deficiencia del factor VIII o IX, respectivamente. Los individuso afectados presentan un fenotipo de hemorragia variable causada por el amplio espectro de mutacionesdentro del gen del factor VIII o IX. Se reportan los resultados preliminares del diagnóstico molecular de familias hemofilicas costarricenses. Se demuestran los hallazgos obtenidos por medio de diagnóstico molecular directo e indirecto en tres familias con hemofilia A y dos con hemofilia B; así como las precondiciones y facilidad de este diagnóstico. En dos familias con hemofilia A y dos con hemofilia B, la mutación responsable pudo ser detectada por medio de Southern Blot, por la reacción en cadena de la polimerasa o por secuenciación genética. Una familia con hemofilia A pudo ser analizada solamente por medio de análisis indirecto por medio de marcadores genéticos intragénicos y extragénicos.

  10. Adrenomyeloneuropathy associated with congenital cataract. Report of a family with MRI study

    Energy Technology Data Exchange (ETDEWEB)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-05-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq.

  11. Iodine-131 induced hepatotoxicity in previously healthy patients with Grave’s disease

    Science.gov (United States)

    2013-01-01

    Objective To describe the association of the rare and serious complication of liver toxicity in previously healthy Grave’s disease (GD) patients after the treatment with radioactive iodine 131I (RAI). Case presentation We report the clinical, laboratory and pathologic findings of 2 cases of severe liver toxicity associated with the treatment with RAI in previously healthy patients with GD. Clinical examination and laboratory investigations excluded viral hepatitis, autoimmune hepatitis, granulomatous disease, primary biliary disease, extrahepatic biliary obstruction, and heart failure. Case 1: A previously healthy 52-years old man reportedly having a typical GD but following RAI treatment, concomitantly developed severe liver toxicity that required 1 week of treatment in hospital. Case 2: A previously healthy 34-years old woman is reported as having a typical GD but developed jaundice following RAI treatment that required several weeks of in hospital treatment in the hepato-biliary department. In both cases, the liver dysfunction resolved after intensive treatment with hepato-protective agents. In this report the therapeutic considerations as well as the pathogenetic possibilities are reviewed. Conclusion To the best of our knowledge, this is the first description of the association observed, which is rare but may be severe and should be considered in any case of thyrotoxicosis where a liver dysfunction develops after the treatment with radioactive iodine 131I. PMID:23497434

  12. Patterns of family management of childhood chronic conditions and their relationship to child and family functioning.

    Science.gov (United States)

    Knafl, Kathleen A; Deatrick, Janet A; Knafl, George J; Gallo, Agatha M; Grey, Margaret; Dixon, Jane

    2013-01-01

    Understanding patterns of family response to childhood chronic conditions provides a more comprehensive understanding of their influence on family and child functioning. In this paper, we report the results of a cluster analysis based on the six scales comprising the Family Management Measure (FaMM) and the resulting typology of family management. The sample of 575 parents (414 families) of children with diverse chronic conditions fell into four patterns of response (Family Focused, Somewhat Family Focused, Somewhat Condition Focused, Condition Focused) that differed in the extent family life was focused on usual family routines or the demands of condition management. Most (57%) families were in either the Family Focused or Somewhat Family Focused pattern. Patterns of family management were related significantly to family and child functioning, with families in the Family Focused and Somewhat Family Focused patterns demonstrating significantly better family and child functioning than families in the other two patterns. Copyright © 2013. Published by Elsevier Inc.

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

    DEFF Research Database (Denmark)

    Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina

    2014-01-01

    -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...

  14. Learning from e-Family History: A Model of Online Family Historian Research Behaviour

    Science.gov (United States)

    Friday, Kate

    2014-01-01

    Introduction: This paper reports on doctoral research which investigated the online research behaviour of family historians, from the overall perspective of local studies collections and developing online services for family historians. Method: A hybrid (primarily ethnographic) study was employed using qualitative diaries and shadowing, to examine…

  15. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

    Science.gov (United States)

    Rivera, B; González, S; Sánchez-Tomé, E; Blanco, I; Mercadillo, F; Letón, R; Benítez, J; Robledo, M; Capellá, G; Urioste, M

    2011-04-01

    Classical familial adenomatous polyposis (FAP) is characterized by the appearance of >100 colorectal adenomas. We screened the APC and MUTYH genes for mutations and evaluated the genotype-phenotype correlation in 136 Spanish classical FAP families. APC/MUTYH mutations were detected in 107 families. Sixty-four distinct APC point mutations were detected in 95 families of which all were truncating mutations. A significant proportion (39.6%) had not been previously reported. Mutations were spread over the entire coding region and great rearrangements were identified in six families. Another six families exhibited biallelic MUTYH mutations. No APC or MUTYH mutations were detected in 29 families. These APC/MUTYH-negative families showed clinical differences with the APC-positive families. A poor correlation between phenotype and mutation site was observed. Our results highlight that a broad approach in the genetic study must be considered for classical FAP due to involvement of both APC and MUTYH and the heterogeneous spectrum of APC mutations observed in this Spanish population. The scarcely consistent genotype-phenotype correlation does not allow making specific recommendations regarding screening and management. Differences observed in APC/MUTYH-negative families may reflect a genetic basis other than mutations in APC and MUTYH genes for FAP predisposition. © The Author 2010. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

  16. Family, friends, and faith: how organ donor families heal.

    Science.gov (United States)

    Stouder, Donald B; Schmid, Adam; Ross, Sharon S; Ross, Larry G; Stocks, Lisa

    2009-12-01

    Understanding how organ donors' families recover from their grief can help organ procurement organizations improve consent rates and increase the number of deceased donor organs available for transplant. To determine what helps the loved ones of deceased organ donors heal from their grief and loss, and to better understand families' needs during the consent process as a way of improving overall consent rates for organ donation. Written survey of all organ and tissue donors' families in the San Diego and Imperial County (California) service area during 2006 and 2007. Responses to the 20-question survey addressing factors that help healing from grief, as well as contextual information about the families' experience at the hospital and the consent process. Most respondents (84%) indicated that family support was the most helpful thing in dealing with their grief, followed by the support of friends (74%) and religious and cultural beliefs (37%). Most (75%) indicated that they agreed to donation so that something positive could result from their loss. Most respondents (93%) felt that they were given enough information to make an informed decision about donation, and 6% indicated that the donation process interfered with funeral or memorial arrangements. More than 95% understood that their loved one had died before they were approached for consent. Consistent with previous studies, 12% said they still had unanswered questions about aspects of donation, and 15% of respondents indicated that the discussion about organ donation added more emotional stress to their overall experience.

  17. Negotiating Family Tracking

    DEFF Research Database (Denmark)

    Albrechtslund, Anders; Bøge, Ask Risom; Sonne Damkjær, Maja

    This presentation explores the question: What motivates the use of tracking technologies in families, and how does the use transform the relations between parent and child? The purpose is to investigate why tracking technologies are used in families and how these technologies potentially change...... the relation between parents and children. The use of tracking technologies in families implicate negotiations about the boundaries of trust and intimacy in parent-child relations which can lead to strategies of resistance or modification (Fotel and Thomsen, 2004; Rooney, 2010; Steeves and Jones, 2010......). In the presentation, we report from a qualitative study that focuses on intergenerational relations. The study draws on empirical data from workshops with Danish families as well as individual and group interviews. We aim to gain insights about the sharing habits and negotiations in intimate family relations...

  18. The Development of Children's Ethnic Identity in Immigrant Chinese Families in Canada: The Role of Parenting Practices and Children's Perceptions of Parental Family Obligation Expectations

    Science.gov (United States)

    Su, Tina F.; Costigan, Catherine L.

    2009-01-01

    Parents' role in children's ethnic identity development was examined among 95 immigrant Chinese families with young adolescents living in Canada. Children reported their feelings of ethnic identity and perceptions of parental family obligation expectations. Parents reported their family obligation expectations; parents and children reported on…

  19. Couples' cultural values, shared parenting, and family emotional climate within Mexican American families.

    Science.gov (United States)

    Sotomayor-Peterson, Marcela; Figueredo, Aurelio J; Christensen, Donna H; Taylor, Angela R

    2012-06-01

    This study tested a model of shared parenting as its centerpiece that incorporates cultural values as predictors and family emotional climate as the outcome variable of interest. We aimed to assess the predictive power of the Mexican cultural values of familismo and simpatia over couples' shared parenting practices. We anticipated that higher levels of shared parenting would predict family emotional climate. The participants were 61 Mexican American, low income couples, with at least one child between 3 and 4 years of age, recruited from a home-based Head Start program. The predictive model demonstrated excellent goodness of fit, supporting the hypothesis that a positive emotional climate within the family is fostered when Mexican American couples practice a sufficient level of shared parenting. Empirical evidence was previously scarce on this proposition. The findings also provide evidence for the role of cultural values, highlighting the importance of family solidarity and avoidance of confrontation as a pathway to shared parenting within Mexican American couples. © FPI, Inc.

  20. Bilateral orbital infarction and retinal detachment in a previously undiagnosed sickle cell hemoglobinopathy African child

    Science.gov (United States)

    Helen, Onakpoya Oluwatoyin; Ajite, K. O.; Oyelami, O. A.; Asaleye, C. M.; Adeoye, A. O.

    2013-01-01

    Bone infarction involving the orbit in sickle cell disease is not common. Bilateral orbital infarction in a previously undiagnosed sickle cell hemoglobinopathy has not been previously reported. In this report, we present a case of an 11-year-old previously undiagnosed sickle cell disease Nigerian girl with severe acute bilateral orbital infarction and retinal detachment to highlight that hemoglobinopathy induced orbital infarction should be considered in African children with acute onset proptosis with or without previous history of sickle cell hemoglobinopathy. PMID:23901183

  1. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

    Science.gov (United States)

    Tafakhori, Abbas; Yu Jin Ng, Alvin; Tohari, Sumanty; Venkatesh, Byrappa; Lee, Hane; Eskin, Ascia; Nelson, Stanley F; Bonnard, Carine; Reversade, Bruno; Kariminejad, Ariana

    2016-02-01

    TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression, dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene. We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected members. We identified a missense mutation c.1121G > A in the c10orf2 gene in all affected members. Early death is a novel feature seen in affected members of this family that has not been reported to date. The association of PEO, myopathy, dysphonia, dysphagia, behavior change and early death has not been previously reported in the literature or other patients with this mutation.

  2. Accuracy of Self-Reported Breast Cancer Information among Women from the Ontario Site of the Breast Cancer Family Registry

    International Nuclear Information System (INIS)

    Barisic, A.; Glendon, G.; Andrulis, I. L.; Knight, J. A.; Barisic, A.; Knight, J. A.; Glendon, G.; Weerasooriya, N.; Andrulis, I. L.

    2012-01-01

    Obtaining complete medical record information can be challenging and expensive in breast cancer studies. The current literature is limited with respect to the accuracy of self-report and factors that may influence this. We assessed the agreement between self-reported and medical record breast cancer information among women from the Ontario site of the Breast Cancer Family Registry. Women aged 20-69 years diagnosed with incident breast cancer 1996-1998 were identified from the Ontario Cancer Registry, sampled on age and family history. We calculated kappa statistics, proportion correct, sensitivity, specificity, and positive and negative predictive values and conducted unconditional logistic regression to examine whether characteristics of the women influenced agreement. The proportions of women who correctly reported having received a broad category of therapy (hormone therapy, chemotherapy, radiation, or surgery) as well as sensitivity and specificity were above 90%, and the kappa statistics were above 0.80. The specific type of hormonal or chemotherapy was reported with low-to-moderate agreement. Aside from recurrence, no factors were consistently associated with agreement. Thus, most women were able to accurately report broad categories of treatment but not necessarily specific treatment types. The finding of this study can aid researchers in the use and design of self-administered treatment questionnaires

  3. Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.

    Science.gov (United States)

    Ijaz, Sadaqat; Zahoor, Muhammad Yasir; Imran, Muhammad; Ramzan, Khushnooda; Bhinder, Munir Ahmad; Shakeel, Hussain; Iqbal, Muhammad; Aslam, Asim; Shehzad, Wasim; Cheema, Huma Arshad; Rehman, Habib

    2017-10-26

    Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years. All FBP1 exonic regions including splicing sites were PCR-amplified and sequenced bidirectionally. Familial cosegregation of mutations with disease was confirmed by direct sequencing and PCR-RFLP analysis. Three different FBP1 mutations were identified. Each of two previously reported mutations (c.472C>T (p.Arg158Trp) and c.841G>A (p.Glu281Lys)) was carried by four different families. The ninth family carried a novel 4-bp deletion (c.609_612delAAAA), which is predicted to result in frameshift (p.Lys204Argfs*72) and loss of FBPase function. The novel variant was not detected in any of 120 chromosomes from normal ethnically matched individuals. FBPase deficiency is often fatal in the infancy and early childhood. Early diagnosis and prompt treatment is therefore crucial to preventing early mortality. We recommend the use of c.472C>T and c.841G>A mutations as first choice genetic markers for molecular diagnosis of FBPase deficiency in Pakistan.

  4. How involuntary commitment impacts on the burden of care of the family.

    Science.gov (United States)

    Hallam, Larissa

    2007-08-01

    Little research has examined how, or if, involuntary commitment has impacted on the burden experienced by the family. This paper reports a qualitative study which explored how involuntary commitment under the Mental Health Act (MHA) 2000 in Queensland, Australia impacted on families of people with mental illness. Family members of a person with a mental illness, under involuntary commitment at the time or in the previous 12 months, participated in focus groups. Thematic analysis was used to determine the themes. It was apparent from the views of the family that the use of the involuntary commitment was influenced greatly by the pressures experienced by the mental health services (MHS). The MHA did little to assist the family in gaining access to MHS. It was not until after the family made repeated attempts that they were taken seriously. Often the family had few options other than to use deceit and threats to obtain the necessary treatment required. In view of this, the inherit nature of what involuntary commitment implies for persons under it, such as refusing treatment and management difficulties, indicates the family with such an individual experience more hardship in trying to obtain assistance for that person. Thus, the MHA in Queensland has not met its goals of increasing access to MHS. Family members perceive that they were not being listened to and their concerns were not acted upon. The current culture of the MHS appears to serve, to a large degree, to estrange the family from the consumer making relationships difficult and time-consuming to repair. The mental health profession is urged to consider the culture within their workplace and move towards constructive involvement of the family.

  5. A case report: mixed thrombus formation in a previously sutured right atrium.

    Science.gov (United States)

    Yunfei, Ling; Dongxu, Li; Shuhua, Luo; Yabo, Wang; San, Deep; Changping, Gan; Ke, Lin; Qi, An

    2014-08-01

    We describe the case of a 19-year-old Chinese woman who nine months prior underwent repair of an atrial septal defect and came to our hospital with a right atrial mass attached to the anterior wall of the right atrium on transthoracic echocardiography. Pathologic examination revealed the mass was a mixed-type thrombosis with some unusual organization, which previously was not described in literature.

  6. Hereditary ectodermal dysplasia: Report of 11 patients from a family

    Directory of Open Access Journals (Sweden)

    Seema Vaidya

    2013-01-01

    Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.

  7. Comprehensive secondary structure elucidation of four genera of the family Pospiviroidae.

    Directory of Open Access Journals (Sweden)

    Tamara Giguère

    Full Text Available Viroids are small, circular, single stranded RNA molecules that infect plants. Since they are non-coding, their structures play a critical role in their life cycles. To date, little effort has been spend on elucidating viroid structures in solution due to both the experimental difficulties and the time-consuming nature of the methodologies implicated. Recently, the technique of high-throughput selective 2'-hydroxyl acylation analyzed by primer extension (SHAPE was adapted for the probing of the members of family Avsunviroidae, all of whom replicate in the chloroplast and demonstrate ribozyme activity. In the present work, twelve viroid species belonging to four different genera of the family Pospiviroidae, whose members are characterized by the presence of a central conserved region (CCR and who replicate in nucleus of the host, were probed. Given that the structures of five distinct viroid species from the family Pospiviroidae have been previously reported, an overview of the different structural characteristics for all genera and the beginning of a manual classification of the different viroids based on their structural features are presented here.

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

    Science.gov (United States)

    Kamiar, M S; Ismail, H F

    1991-12-01

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

  9. Family inclusion in mental health services: Reality or rhetoric?

    Science.gov (United States)

    Martin, Robyn M; Ridley, Sophie C; Gillieatt, Sue J

    2017-09-01

    Contemporary mental health policies require family inclusion in the design, implementation and evaluation of services. This scoping review considers the factors in mental health practice which either mediate or promote family inclusion. A wide range of factors are reported to obstruct family inclusion, while a smaller number of studies report that meaningful family inclusion rests on a partnership approach which values the input of families and services users. When it comes to family inclusion, there is a gap between policy and service delivery practice. Changes in service delivery attitudes, values and culture are necessary to meaningfully and systematically include families and service users.

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

    Science.gov (United States)

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

    2018-01-01

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

  11. Body elimination attitude family resemblance in Kuwait.

    Science.gov (United States)

    Al-Fayez, Ghenaim; Awadalla, Abdelwahid; Arikawa, Hiroko; Templer, Donald I; Hutton, Shane

    2009-12-01

    The purpose of the present study was to determine the family resemblance of attitude toward body elimination in Kuwaiti participants. This study was conceptualized in the context of the theories of moral development, importance of cleanliness in the Muslim religion, cross-cultural differences in personal hygiene practices, previous research reporting an association between family attitudes and body elimination attitude, and health implications. The 24-item Likert-type format Body Elimination Attitude Scale-Revised was administered to 277 Kuwaiti high school students and 437 of their parents. Females scored higher, indicating greater disgust, than the males. Moreover, sons' body elimination attitude correlated more strongly with fathers' attitude (r = .85) than with that of the mothers (r = .64). Daughters' attitude was similarly associated with the fathers' (r = .89) and the mothers' attitude (r = .86). The high correlations were discussed within the context of Kuwait having a collectivistic culture with authoritarian parenting style. The higher adolescent correlations, and in particular the boys' correlation with fathers than with mothers, was explained in terms of the more dominant role of the Muslim father in the family. Public health and future research implications were suggested. A theoretical formulation was advanced in which "ideal" body elimination attitude is relative rather than absolute, and is a function of one's life circumstances, one's occupation, one's culture and subculture, and the society that one lives in.

  12. A Feminist Family Therapist Behavior Checklist.

    Science.gov (United States)

    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…

  13. Mapping the Paths from Styles of Anger Experience and Expression to Obsessive–Compulsive Symptoms: The Moderating Roles of Family Cohesion and Adaptability

    Directory of Open Access Journals (Sweden)

    Liang Liu

    2017-05-01

    Full Text Available Previous research has shown strong connections of anger experience and expression with obsessive–compulsive (OC symptoms. Additionally, studies have demonstrated links between family environment variables and obsessive–compulsive disorder (OCD. Our study aims to integrate the perspectives from these two literatures by exploring the moderating roles of family cohesion and family adaptability in the relationship between anger proneness and suppression and OCD symptoms. A total of 2008 college students were recruited from a comprehensive university in Shanghai, China between February and May 2016. The subjects completed self-report inventories, including the Symptom Check List-90, State-Trait Anger Expression Inventory 2 (Chinese version, and Family Adaptability and Cohesion Scale, second edition (Chinese Version. Controlling for age, one-child family status, ethnicity, family income, current depression, and anxiety, our analyses showed that the association between anger proneness and OC symptoms was moderated by family cohesion among men and that family adaptability moderated the connection between anger suppression and OC complaints among women. The findings imply that a more cohesive and empathic family environment may protect male students with high levels of anger proneness from developing OC behaviors or thoughts. The results suggest that for female subjects who are accustomed to suppressing angry feelings, flexible family coping strategies and communication atmospheres would reduce their vulnerability to OC symptoms. The findings are somewhat consistent with those of previous studies on psychotherapy outcomes that showed that OCD patients benefitted from psychotherapeutic interventions that cultivated the clients’ family cohesion and adaptability.

  14. Mapping the Paths from Styles of Anger Experience and Expression to Obsessive–Compulsive Symptoms: The Moderating Roles of Family Cohesion and Adaptability

    Science.gov (United States)

    Liu, Liang; Liu, Cuilian; Zhao, Xudong

    2017-01-01

    Previous research has shown strong connections of anger experience and expression with obsessive–compulsive (OC) symptoms. Additionally, studies have demonstrated links between family environment variables and obsessive–compulsive disorder (OCD). Our study aims to integrate the perspectives from these two literatures by exploring the moderating roles of family cohesion and family adaptability in the relationship between anger proneness and suppression and OCD symptoms. A total of 2008 college students were recruited from a comprehensive university in Shanghai, China between February and May 2016. The subjects completed self-report inventories, including the Symptom Check List-90, State-Trait Anger Expression Inventory 2 (Chinese version), and Family Adaptability and Cohesion Scale, second edition (Chinese Version). Controlling for age, one-child family status, ethnicity, family income, current depression, and anxiety, our analyses showed that the association between anger proneness and OC symptoms was moderated by family cohesion among men and that family adaptability moderated the connection between anger suppression and OC complaints among women. The findings imply that a more cohesive and empathic family environment may protect male students with high levels of anger proneness from developing OC behaviors or thoughts. The results suggest that for female subjects who are accustomed to suppressing angry feelings, flexible family coping strategies and communication atmospheres would reduce their vulnerability to OC symptoms. The findings are somewhat consistent with those of previous studies on psychotherapy outcomes that showed that OCD patients benefitted from psychotherapeutic interventions that cultivated the clients’ family cohesion and adaptability. PMID:28512441

  15. The ties that bind - A case report about restraining a mentally unwell family member at home for over a decade.

    Science.gov (United States)

    Tay, Jing Ling; Chan, Christopher Yi Wen; Ho, Zhen Chong; Lal, Manu

    2017-04-01

    This is a case report describing a patient, with schizophrenia, who was physically chained by her mother in their house for more a decade. Illness factors, family dynamics, stigma, lack of mental health literacy and cultural roles contributed to her chaining. To our knowledge, this is the first case report that examines the prolonged use of physical restraints by family members on a patient in a developed urban setting and that explores the cultural and ethical issues surrounding this phenomenon. We have concluded that there remains a need for a national level approach to increase mental health literacy, reduce stigma and promote existing psychiatric community health services in a culturally sensitive manner. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Family Child Care Licensing Study, 1997.

    Science.gov (United States)

    Children's Foundation, Washington, DC.

    This report details the findings of an annual survey of state child care regulatory agencies. The survey gathered data on both small family child care homes and group or large family child care homes in each of the 50 states, the District of Columbia, Puerto Rico and the Virgin Islands. The report's introduction lists the survey categories and…

  17. The genome sequence of four isolates from the family Lichtheimiaceae.

    Science.gov (United States)

    Chibucos, Marcus C; Etienne, Kizee A; Orvis, Joshua; Lee, Hongkyu; Daugherty, Sean; Lockhart, Shawn R; Ibrahim, Ashraf S; Bruno, Vincent M

    2015-07-01

    This study reports the release of draft genome sequences of two isolates of Lichtheimia corymbifera and two isolates of L. ramosa. Phylogenetic analyses indicate that the two L. corymbifera strains (CDC-B2541 and 008-049) are closely related to the previously sequenced L. corymbifera isolate (FSU 9682) while our two L. ramosa strains CDC-B5399 and CDC-B5792 cluster apart from them. These genome sequences will further the understanding of intraspecies and interspecies genetic variation within the Mucoraceae family of pathogenic fungi. © FEMS 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  18. Family functioning and perceived support from nurses during cancer treatment among Danish and Australian patients and their families.

    Science.gov (United States)

    Dieperink, Karin B; Coyne, Elisabeth; Creedy, Debra K; Østergaard, Birte

    2018-01-01

    This study aimed to compare family functioning and perceptions of support from nurses among Danish and Australian adult oncology patients and family members. Family can have a strong influence on the health of individuals, providing support during a health crisis such as cancer. However, family functioning and supportive care from nurses may vary across cultures and settings. A descriptive, cross-sectional comparative design with patients and family members from Denmark and Australia. Participants were asked to fill in translated versions of the Iceland-Expressive Family Functioning Questionnaire (ICE-EFFQ) and Iceland-Expressive Family Perceived Support Questionnaire (ICE-FPSQ). In total, 232 participants were recruited. The Danish cohort consisted of 56 patients and 54 family members. The Australian cohort consisted of 83 patients and 39 family members. Mean age was 59 years. No significant differences were found between Danish and Australian families. However, compared to patients, family members reported significantly lower overall family functioning, expressive emotions and communication, as well as less emotional support from nurses. Family functioning was comparable between Denmark and Australia. Family members reported less emotional support than patients. Nurses need to consider the patient and the family as a unit with complex needs that require monitoring and attention during oncology treatment. Families supporting a member with cancer have significant and often unmet needs. Assessment, information-sharing and health education need to include the family. Supportive care information may be shared between Denmark and Australia and inspires the development of common guidelines for optimal family nursing practice. © 2017 John Wiley & Sons Ltd.

  19. Family Relationships and the Psychosocial Adjustment of School-Aged Children in Intact Families

    Science.gov (United States)

    Hakvoort, Esther M.; Bos, Henny M. W.; Van Balen, Frank; Hermanns, Jo M. A.

    2010-01-01

    The authors investigated whether the quality of three family relationships (i.e., marital, parent-child, sibling) in intact families are associated with each other and with children's psychosocial adjustment. Data were collected by means of maternal and child reports (N = 88) using standardized instruments (i.e., Marital Satisfaction Scale,…

  20. Previous induced abortion among young women seeking abortion-related care in Kenya: a cross-sectional analysis.

    Science.gov (United States)

    Kabiru, Caroline W; Ushie, Boniface A; Mutua, Michael M; Izugbara, Chimaraoke O

    2016-05-14

    Unsafe abortion is a leading cause of death among young women aged 10-24 years in sub-Saharan Africa. Although having multiple induced abortions may exacerbate the risk for poor health outcomes, there has been minimal research on young women in this region who have multiple induced abortions. The objective of this study was therefore to assess the prevalence and correlates of reporting a previous induced abortion among young females aged 12-24 years seeking abortion-related care in Kenya. We used data on 1,378 young women aged 12-24 years who presented for abortion-related care in 246 health facilities in a nationwide survey conducted in 2012. Socio-demographic characteristics, reproductive and clinical histories, and physical examination assessment data were collected from women during a one-month data collection period using an abortion case capture form. Nine percent (n = 98) of young women reported a previous induced abortion prior to the index pregnancy for which they were receiving care. Statistically significant differences by previous history of induced abortion were observed for area of residence, religion and occupation at bivariate level. Urban dwellers and unemployed/other young women were more likely to report a previous induced abortion. A greater proportion of young women reporting a previous induced abortion stated that they were using a contraceptive method at the time of the index pregnancy (47 %) compared with those reporting no previous induced abortion (23 %). Not surprisingly, a greater proportion of young women reporting a previous induced abortion (82 %) reported their index pregnancy as unintended (not wanted at all or mistimed) compared with women reporting no previous induced abortion (64 %). Our study results show that about one in every ten young women seeking abortion-related care in Kenya reports a previous induced abortion. Comprehensive post-abortion care services targeting young women are needed. In particular, post

  1. Nonfamilial cleidocranial dysplasia (dysostosis): a case report

    International Nuclear Information System (INIS)

    Salem, G

    1990-01-01

    Cleidocranial dysplasia, previously known as cleidocranial dysostosis, is a rare hereditary disease of unknown etiology characterized by abnormalities in the skull, jaws, shoulder girdle, as well as abnormalities of the dentition. The disease usually follows an autosomal dominant mode of transmission. This is a report on a case in a 25-year-old Saudi female from Gizan, Saudi Arabia, which seemes to be the first case reported in the Kingdom. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member of the family suffering from such disorder. The abnor malities present in the dentition are described together with the associated skeletal malformations. The clin ical and radiographic findings, as well as the hereditary pattern of the disease as described in the literature, are discussed. The dental management of these cases is reviewed. (author)

  2. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

    Science.gov (United States)

    Nakano, Aoi; Lestringant, Gilles G; Paperna, Tamar; Bergman, Reuven; Gershoni, Ruth; Frossard, Philippe; Kanaan, Moien; Meneguzzi, Guerrino; Richard, Gabriele; Pfendner, Ellen; Uitto, Jouni; Pulkkinen, Leena; Sprecher, Eli

    2002-04-01

    Junctional epidermolysis bullosa (JEB) is a group of inherited blistering diseases characterized by epidermal-dermal separation resulting from mutations that affect the function of critical components of the basement membrane zone. This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored. The aim of the present study was to assess a series of consanguineous JEB families originating from the Middle East. We identified 7 families referred to us between 1998 and 1999 and originating from the United Arab Emirates, Saudi Arabia, Sudan, Yemen, and Israel. Histologic, immunofluorescence, and electron microscopy studies were performed to direct the subsequent molecular analysis. DNA obtained from all family members was amplified by means of polymerase chain reaction and analyzed by conformation-sensitive gel electrophoresis with subsequent direct sequencing. In 6 families presenting with the clinical and histologic features distinctive for JEB, mutations in genes encoding 1 of the 3 subunit polypeptides of laminin-5 were identified. Two families each had mutations in LAMB3, 2 in LAMA3, and 2 in LAMC2. Out of 7 distinct mutations, 5 were novel and 2 were recurrent. No relationship was found between the presence of nonsense/frameshift mutations in laminin-5 genes and perinatal mortality, contradicting a major genotype-phenotype correlation previously reported in the European and US literature. Similarly, none of the recurrent LAMB3 hot spot mutations previously described in other populations was found in our series. Finally, in a family with the clinical diagnosis of generalized atrophic benign epidermolysis bullosa, a homozygous non-sense mutation in Col17A1 gene (encoding the BPAG2 antigen) was identified. The present report suggests (1) the existence of a unique spectrum of mutations in the Middle East

  3. Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa

    Science.gov (United States)

    Pan, Xinyuan; Chen, Xue; Liu, Xiaoxing; Gao, Xiang; Kang, Xiaoli; Xu, Qihua; Chen, Xuejuan; Zhao, Kanxing; Zhang, Xiumei; Chu, Qiaomei; Wang, Xiuying

    2014-01-01

    Purpose Seven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence of mutations in splicing genes in patients with adRP. Methods Six unrelated families from our adRP cohort (42 families) and two additional families with RP with uncertain inheritance mode were clinically characterized in the present study. Targeted sequence capture with next-generation massively parallel sequencing (NGS) was performed to screen mutations in 189 genes including all seven pre-mRNA splicing genes associated with adRP. Variants detected with NGS were filtered with bioinformatics analyses, validated with Sanger sequencing, and prioritized with pathogenicity analysis. Results Mutations in pre-mRNA splicing genes were identified in three individual families including one novel frameshift mutation in PRPF31 (p.Leu366fs*1) and two known mutations in SNRNP200 (p.Arg681His and p.Ser1087Leu). The patients carrying SNRNP200 p.R681H showed rapid disease progression, and the family carrying p.S1087L presented earlier onset ages and more severe phenotypes compared to another previously reported family with p.S1087L. In five other families, we identified mutations in other RP-related genes, including RP1 p. Ser781* (novel), RP2 p.Gln65* (novel) and p.Ile137del (novel), IMPDH1 p.Asp311Asn (recurrent), and RHO p.Pro347Leu (recurrent). Conclusions Mutations in splicing genes identified in the present and our previous study account for 9.5% in our adRP cohort, indicating the important role of pre-mRNA splicing deficiency in the etiology of adRP. Mutations in the same splicing gene, or even the same mutation, could correlate with different phenotypic severities, complicating the genotype–phenotype correlation and clinical prognosis. PMID:24940031

  4. The Role of Birth/Previously Adopted Children in Families Choosing to Adopt Children with Special Needs.

    Science.gov (United States)

    Mullin, Ellen Steele; Johnson, LeAnne

    1999-01-01

    Notes that successful child placement depends on engaging birth or previously adopted children during the adoption process, yet other children are often overlooked when parents are adopting a special-needs child. Presents a model which recognizes dynamics of strength and vulnerability and applies that model to preparing and supporting the adoptive…

  5. Patterns of family management for adolescent and young adult brain tumor survivors.

    Science.gov (United States)

    Deatrick, Janet A; Barakat, Lamia P; Knafl, George J; Hobbie, Wendy; Ogle, Sue; Ginsberg, Jill P; Fisher, Michael J; Hardie, Thomas; Reilly, Maureen; Broden, Elizabeth; Toth, Jennifer; SanGiacomo, Nicole; Knafl, Kathleen A

    2018-04-01

    Little is known about how families systemically incorporate the work of caring for adolescent and young adult (AYA) survivors of childhood brain tumors who often remain dependent on their families well into adulthood. The primary aim of this study was to develop a typology of family management (FM) patterns for AYA survivors. The secondary aims were to compare them with FM patterns previously described for children with chronic health conditions and to validate the patterns using quantitative and qualitative data. Guided by the Family Management Styles Framework, a sequential, mixed-methods design was used to gather quantitative data from 186 mothers (primary caregivers) and 134 AYA survivors. FM patterns (family focused; somewhat family focused; somewhat condition focused; and condition focused) were identified using cluster analysis of data from the Family Management Measure. FM patterns were found to be similar to those for children with chronic health physical conditions and were significantly related to maternal quality of life, survivor quality of life (health-related quality of life [self- and mother proxy report]), cancer-related variables (treatment intensity, medical late effects), and family functioning in theoretically meaningfully ways. Significant demographic characteristics included private insurance and AYA survivors' engagement in school or employment. Qualitative analysis of data from 45 interviews with mothers from the larger sample provided additional support for and elaborated descriptions of FM patterns. Identification of FM patterns moves the science of family caregiving forward by aggregating data into a conceptually based typology, thereby taking into account the complex intersection of the condition, the family, and condition management. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  6. Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia

    Energy Technology Data Exchange (ETDEWEB)

    Feussner, G.; Dobmeyer, J. [Univ. of Heidelberg (Germany); Nissen, H.; Hansen, T.S. [Odense Univ. Hospital (Denmark)

    1996-10-16

    We report on a 20-year-old man with the combination of two independent familial lipoprotein disorders: heterozygous familial hypercholesterolemia (FH) and type III hyperlipoproteinemia (HLP). Familial hypercholesterolemia was diagnosed by elevated total and low density lipoprotein cholesterol levels and family history. By denaturing gradient gel electrophoresis, DNA sequencing and restriction fragment length polymorphism analysis, a G{r_arrow}A splice donor mutation in intron 3 of the proband`s low density lipoprotein receptor gene was identified as the underlying molecular defect. This mutation was described previously as a receptor-negative founder mutation in Norway (FH-Elverum) and subsequently in 6 unrelated heterozygous English patients, creating a severe phenotype of familial hypercholesterolemia. Type III HLP was confirmed by homozygosity for apolipoprotein (apo) E2 and an elevated ratio of very low density lipoprotein cholesterol to serum triglycerides (0.40; normal ratio about 0.20). The patient has unusual flat xanthomas in the interdigital webs of the hands which are normally not found in either disease. These dermatological findings might therefore be indicative of the rare combination of both disorders of lipoprotein metabolism in one individual. 29 refs., 5 figs., 1 tab.

  7. A hydrophobic anchor mechanism defines a deacetylase family that suppresses host response against YopJ effectors.

    Science.gov (United States)

    Bürger, Marco; Willige, Björn C; Chory, Joanne

    2017-12-19

    Several Pseudomonas and Xanthomonas species are plant pathogens that infect the model organism Arabidopsis thaliana and important crops such as Brassica. Resistant plants contain the infection by rapid cell death of the infected area through the hypersensitive response (HR). A family of highly related α/β hydrolases is involved in diverse processes in all domains of life. Functional details of their catalytic machinery, however, remained unclear. We report the crystal structures of α/β hydrolases representing two different clades of the family, including the protein SOBER1, which suppresses AvrBsT-incited HR in Arabidopsis. Our results reveal a unique hydrophobic anchor mechanism that defines a previously unknown family of protein deacetylases. Furthermore, this study identifies a lid-loop as general feature for substrate turnover in acyl-protein thioesterases and the described family of deacetylases. Furthermore, we found that SOBER1's biological function is not restricted to Arabidopsis thaliana and not limited to suppress HR induced by AvrBsT.

  8. A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

    Science.gov (United States)

    Puschmann, A; Pfeiffer, R F; Stoessl, A J; Kuriakose, R; Lash, J L; Searcy, J A; Strongosky, A J; Vilariño-Güell, C; Farrer, M J; Ross, O A; Dickson, D W; Wszolek, Z K

    2011-05-10

    Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS). We describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem. Eleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with l-dopa responded positively. Postural or action tremor was present in 6 individuals with PD, and in 19 additional family members. Fifteen persons reported symptoms of RLS. PET showed reduced presynaptic dopamine function typical of sporadic PD in a patient with PD and ET, but not in persons with ET or RLS. The inheritance pattern was autosomal dominant for PD and RLS. No known pathogenic mutation in PD-related genes was found. Fourteen of the family members with PD, ET, or RLS had depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration with ubiquitin-positive axonal spheroids, TDP43-positive pathology in the basal ganglia, hippocampus, and brainstem, and only sparse Lewy bodies. Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.

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

    Science.gov (United States)

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

    2015-01-01

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

  10. Examining the Effects of Mexican Serial Migration and Family Separations on Acculturative Stress, Depression, and Family Functioning

    Science.gov (United States)

    Rusch, Dana; Reyes, Karina

    2013-01-01

    This study examined the role of parent-child separations during serial migration to the United States in predicting individual- and family-level outcomes in Mexican immigrant families. We assessed parents' subjective appraisals of their family's separation and reunion experiences to explore associations with self-reported acculturative stress,…

  11. Measurement Model and Psychometric Properties of Family Communication Scale (FCS and Family Satisfaction Scale (FSS in Iranian Families

    Directory of Open Access Journals (Sweden)

    مجتبی حبیبی

    2015-12-01

    Full Text Available The present study examined the stability of the factor structure and psychometric properties of the complementary scales of family adaptability and cohesion evaluation scales (FACES in Iranian families. The scale was translated into Persian language and was used as part of a battery of questionnaires consisting of the scales measuring family communication scale (FCS, family satisfaction scale (FSS, depression, anxiety, stress scale (DASS, youth self-report for behavior problems (YSR, parenting stress index-short form (PSI-SF, and life events (LF. A sample of  1652 subjects (father= 558, mother= 576, child=518 from seven capital cities including Tehran, Mashhad, Tabriz, Kermanshah, Yazd, Shiraz, and Esfahan completed questionnaires. Confirmatory factor analysis upheld the original two-factor structure. The results provided acceptable internal consistency, test-retest reliability, convergent, and divergent validity. Findings supported the Persian version of FCS and FSS for cross-cultural use as a valid and reliable measure for diagnostic purposes in family context.

  12. Developing programs for african families, by african families

    DEFF Research Database (Denmark)

    Halliday, Jennifer A; Green, Julie; Mellor, David

    2013-01-01

    Obesity is an emerging problem for African migrants in Australia, but few prevention programs incorporate their cultural beliefs and values. This study reports on the application of community capacity-building and empowerment principles in 4 workshops with Sudanese families in Australia. Workshop...

  13. 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

  14. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Leana-Cox, J.; Pangkanon, Suthipong; Eanet, K.R. [Univ. of Maryland School of Medicine, Baltimore, MD (United States)] [and others

    1996-11-11

    The DiGeorge (DG), velocardiofacial (VCF), and conotruncal anomaly-face (CTAF) syndromes were originally described as distinct disorders, although overlapping phenotypes have been recognized. It is now clear that all three syndromes result from apparently similar or identical 22q11.2 deletions, suggesting that they represent phenotypic variability of a single genetic syndrome. We report on 12 individuals in five families with del(22)(q11.2) by fluorescent in situ hybridization, and define the frequency of phenotypic abnormalities in those cases and in 70 individuals from 27 del(22)(q11.2) families from the literature. Common manifestations include mental impairment (97%), abnormal face (93%), cardiac malformations (681%), thymic (64%) and parathyroid (63%) abnormalities, and cleft palate or velopharyngeal insufficiency (48%). Familial DG, VCF, and CTAF syndromes due to del(22)(q11.2) show significant inter- and intrafamilial clinical variability consistent with the hypothesis that a single gene or group of tightly linked genes is the common cause of these syndromes. Up to 25% of 22q deletions are inherited, indicating that parents of affected children warrant molecular cytogenetic evaluation. We propose use of the compound term {open_quotes}DiGeorge/velocardiofacial (DGNCF) syndrome{close_quotes} in referring to this condition, as it calls attention to the phenotypic spectrum using historically familiar names. 41 refs., 2 figs., 2 tabs.

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

    Science.gov (United States)

    Allen, Tammy D; Finkelstein, Lisa M

    2014-07-01

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

  16. Family Systems Training for Medical Students.

    Science.gov (United States)

    Thabrew, Hiran

    2018-05-01

    To evaluate whether a workshop on family systems delivered to medical students could improve participants' understanding of families from a systemic point of view and help them recognise and address systemic issues that may be affecting their patients. Fifth year (senior) medical students ( n = 36) from the University of Auckland participated in a 90-min workshop about family systems. Pre- and post-workshop, self-reported measures of knowledge and confidence were completed and qualitative feedback was also obtained from participants. The workshop was well received and its interactive and role-play based nature were particularly appreciated. Participants reported gains in all explored areas of knowledge and understanding, suggesting that the workshop met its desired aims. This workshop is an educationally effective and expedient way to equip medical students with some knowledge and understanding about family systems. It may benefit their future work with individual patients and families.

  17. Another work-family interface: Work characteristics and family intentions in Japan

    Directory of Open Access Journals (Sweden)

    Wei-hsin Yu

    2017-01-01

    Full Text Available Background: Previous research highlights the importance of job and workplace characteristics in the work‒family interface. Nevertheless, we know little about how the specific context of work is related to singles' marriage and parenthood intentions. Objective: In this study we examine the links between work conditions and family intentions using a representative sample of never-married, childless adults in Japan, a country that is well known for rapid declines in marriage and fertility rates. Results: We find that, surprisingly, work characteristics conducive to less work‒family conflict are rarely associated with stronger desires to marry and have children. For never-married men in Japan, the job qualities most relevant to family intentions are those that imply a bright economic future. Job conditions with the potential for work‒family conflict can be positively related to the desire to marry and have children if they also indicate promising career prospects. Conversely, workplace sociability is highly relevant to women's marriage and fertility intentions. Never-married women working in more collaborative and interactive environments seek potential marriage partners more actively, want to marry and become parents more, and have higher preferred numbers of children. We suggest that in more sociable workplaces, childless singles tend to be more exposed to earlier cohorts' family experiences and beliefs and so become more interested in marriage and parenthood. Contribution: This study demonstrates that, in Japan, the work characteristics relevant to single men's family intentions differ from those that are relevant to the equivalent intentions of single women. In particular, the finding that women working in more sociable environments desire marriage and children more adds to the literature emphasizing the influence of social relations on family decisions in advanced economies, as well as suggesting a new channel through which social

  18. The pathogenicity of genetic variants previously associated with left ventricular non-compaction

    DEFF Research Database (Denmark)

    Abbasi, Yeganeh; Jabbari, Javad; Jabbari, Reza

    2016-01-01

    BACKGROUND: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide...... an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants. METHODS AND RESULTS: The Human Gene Mutation Database and PubMed were systematically...... searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine...

  19. Strengthening family coping resources: the feasibility of a multifamily group intervention for families exposed to trauma.

    Science.gov (United States)

    Kiser, Laurel J; Donohue, April; Hodgkinson, Stacy; Medoff, Deborah; Black, Maureen M

    2010-12-01

    Families exposed to urban poverty face a disproportionate risk of exposure to repeated trauma. Repeated exposures can lead to severe and chronic reactions in multiple family members with effects that ripple throughout the family system. Interventions for distressed families residing in traumatic contexts, such as low-income, urban settings are desperately needed. This report presents preliminary data in support of Strengthening Family Coping Resources, a trauma-focused, multifamily, skill-building intervention. Strengthening Family Coping Resources is designed for families living in traumatic contexts with the goal of reducing symptoms of posttraumatic stress disorder and other trauma-related disorders in children and caregivers. Results from open trials suggest Strengthening Family Coping Resources is a feasible intervention with positive effects on children's symptoms of trauma-related distress.

  20. Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study.

    Science.gov (United States)

    Melin, Beatrice; Dahlin, Anna M; Andersson, Ulrika; Wang, Zhaoming; Henriksson, Roger; Hallmans, Göran; Bondy, Melissa L; Johansen, Christoffer; Feychting, Maria; Ahlbom, Anders; Kitahara, Cari M; Wang, Sophia S; Ruder, Avima M; Carreón, Tania; Butler, Mary Ann; Inskip, Peter D; Purdue, Mark; Hsing, Ann W; Mechanic, Leah; Gillanders, Elizabeth; Yeager, Meredith; Linet, Martha; Chanock, Stephen J; Hartge, Patricia; Rajaraman, Preetha

    2013-05-15

    Familial cancer can be used to leverage genetic association studies. Recent genome-wide association studies have reported independent associations between seven single nucleotide polymorphisms (SNPs) and risk of glioma. The aim of this study was to investigate whether glioma cases with a positive family history of brain tumours, defined as having at least one first- or second-degree relative with a history of brain tumour, are associated with known glioma risk loci. One thousand four hundred and thirty-one glioma cases and 2,868 cancer-free controls were identified from four case-control studies and two prospective cohorts from USA, Sweden and Denmark and genotyped for seven SNPs previously reported to be associated with glioma risk in case-control designed studies. Odds ratios were calculated by unconditional logistic regression. In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1). After Bonferroni correction for multiple comparisons, only one marker was statistically significantly associated with glioma risk, rs6010620 (ORtrend for the minor (A) allele, 0.39; 95% CI: 0.25-0.61; Bonferroni adjusted ptrend , 1.7 × 10(-4) ). In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs6010620 (RTEL1) was associated with an increased risk of glioma when restricting to cases with family history of brain tumours. These findings require confirmation in further studies with a larger number of glioma cases with a family history of brain tumours. Copyright © 2012 UICC.

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

    Science.gov (United States)

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

    2018-04-01

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

  2. Co-Existence of Tuberous Sclerosis and the Fanconi Syndrome in Two Saudi Male Siblings: Report on Two Cases

    International Nuclear Information System (INIS)

    Al-Hwiesh, Abdulla K.; Al-Mueilo, Samir H.; Saeed, Ibrahim; Barak, Infal H.; Al-Muhanna, Fahd A.

    2005-01-01

    In this report, we present two cases of familial tuberous sclerosis co-existing with the Fanconi Syndrome. Both cases presented with history of failure to thrive and mental retardation associated with hypokalemic metabolic acidosis. To our knowledge, the association between tuberous sclerosis and the Fanconi Syndrome has not been reported previously. (author)

  3. Family welfare.

    Science.gov (United States)

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  4. Biological Functions of ilvC in Branched-Chain Fatty Acid Synthesis and Diffusible Signal Factor Family Production in Xanthomonas campestris

    Directory of Open Access Journals (Sweden)

    Kai-Huai Li

    2017-12-01

    Full Text Available In bacteria, the metabolism of branched-chain amino acids (BCAAs is tightly associated with branched-chain fatty acids (BCFAs synthetic pathways. Although previous studies have reported on BCFAs biosynthesis, more detailed associations between BCAAs metabolism and BCFAs biosynthesis remain to be addressed. In this study, we deleted the ilvC gene, which encodes ketol-acid reductoisomerase in the BCAAs synthetic pathway, from the Xanthomonas campestris pv. campestris (Xcc genome. We characterized gene functions in BCFAs biosynthesis and production of the diffusible signal factor (DSF family signals. Disruption of ilvC caused Xcc to become auxotrophic for valine and isoleucine, and lose the ability to synthesize BCFAs via carbohydrate metabolism. Furthermore, ilvC mutant reduced the ability to produce DSF-family signals, especially branched-chain DSF-family signals, which might be the main reason for Xcc reduction of pathogenesis toward host plants. In this report, we confirmed that BCFAs do not have major functions in acclimatizing Xcc cells to low temperatures.

  5. Ruptured intracranial aneurysm in patients with osteogenesis imperfecta: 2 familial cases and a systematic review of the literature.

    Science.gov (United States)

    Gaberel, T; Rochey, A; di Palma, C; Lucas, F; Touze, E; Emery, E

    2016-12-01

    Osteogenesis imperfecta is an inherited connective tissue disorder that causes bone fragility. Vascular complications have been described, but only few cases of ruptured intracranial aneurysm have been reported. We first described 2 familial cases of ruptured intracranial aneurysm and then conducted a systematic review of the literature. A mother and her daughter with a typical history of osteogenesis imperfecta presented with subarachnoid hemorrhage, which was related to a posterior communicating artery aneurysm in both cases. The mother had early rebleeding and died. The aneurysm was excluded by coiling in the daughter. Despite occurrence of hydrocephalus and delayed cerebral ischemia, she had an excellent functional outcome. A systematic review of the literature identified seven additional cases. None of the cases were in fact familial. All patients had a previous medical history of multiple fractures. Seven aneurysms were resolved, three by surgical clipping and four by endovascular procedure. No periprocedural complication was reported. One patient died prematurely and 6 experienced good functional outcome. We report the first familial cases of aneurysmal subarachnoid hemorrhage in osteogenesis imperfecta patients. Intracranial aneurysms are probably linked to a collagen pathology, which is at the origin of osteogenesis imperfecta. In cases of aneurysmal subarachnoid hemorrhage in an osteogenesis imperfecta family, intracranial aneurysm screenings in the relatives showing osteogenesis imperfecta should be considered. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. Correlation between obesity with atopy and family history of atopy in children

    Directory of Open Access Journals (Sweden)

    Putria Rayani Apandi

    2011-08-01

    Full Text Available Background The prevalence of childhood obesity and atopy has increased in recent decades. Research on links between obesity and atopy has shown varied results. Few previous studies have reported on the significance of family history of atopic disease in children. Objective To determine correlation between obesity with atopy and family history of atopic disease in children. Methods This cross-sectional study was conducted from April to September 2010 in the Pediatric Allergy-Immunology subdivision, Hasan Sadikin Hospital. Children aged 6−11 years were divided into four groups of 40 each: obese subjects with and without family history of atopic disease, and normal weight subjects with and without family history of atopic disease. Skin prick test was performed to determine which subjects had atopy. Chi-square test was used to analyze mutual independence, and partial Chi-square test was used to analyze correlation of obesity to atopy and family history of atopic disease in children. Environmental factors, type of childbirth, and pregnancy history were also analyzed as risk factors for atopy. Results Of 80 obese children with and without family history of atopic disease, 40 (100% and 38 (95%, respectively, were atopic. Of 80 normal weight children with and without family history of atopic disease, 39 (98% and 9 (23%, respectively, were atopic. Thus atopy was observed in 126 subjects, while the remaining 34 subjects were non-atopic. Partial test showed a correlation between obesity with atopy and family history of atopic disease (P < 0.001. There were no significant differences in risk factors for atopy by group. Conclusion Obesity correlates with atopy and family history of atopic disease in children.

  7. What’s for dinner? Types of food served at family dinner differ across parent and family characteristics

    Science.gov (United States)

    Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A.; Eisenberg, Marla E.; Berge, Jerica

    2013-01-01

    Objective To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors, and meal-specific variables. Design A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009–2010. Setting Homes of families with adolescents in Minneapolis/St Paul urban area. Subjects Participants included 1,923 parents/guardians (90.8% female; 68.5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Results Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times a week. Variables from within the sociodemographic domain (low educational attainment); psychosocial domain (high work-life stress, depressive symptoms, low family functioning); and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers, and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. Conclusions There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals. PMID:23083836

  8. Brittle teeth with brittle bone in a family for four generations: Case report and literature review

    Directory of Open Access Journals (Sweden)

    P S Shilpa

    2012-01-01

    Full Text Available Dentinogenesis imperfect (DI is a hereditary dentine disorder affecting both deciduous and permanent teeth. DI is caused by mutations in genes encoding for type I collagen leading to discoloration of teeth. Shield around 30 years ago classified DI into 3 types (type I, II, and III. DI type I is associated with osteogenesis imperfect (OI, which is an inheritable disorder of connective tissue. Bone fragility and fracture of bone with minor trauma are hallmarks of this disorder. The objective of this article is to report and review a rare case of DI with OI affecting 4 generations of the family. Through this article, we intend to highlight genetic influence that affected a family for many generations, discuss the oral manifestations that can lead to the diagnosis of OI, and the importance of early diagnosis of OI.

  9. Internationalisation and performance in Spanish family SMES: The W-curve

    OpenAIRE

    Marta Fernández-Olmos; Ana Gargallo-Castel; Enrique Giner-Bagües

    2016-01-01

    Previous studies have provided mixed evidence on the relationship between internationalisation and firm performance. We advance theoretically in this line of research by investigating the impact of the family dimension of a business on this relationship. Using a panel data analysis for the 2006–2011 period, we find empirically that Spanish family SMEs follow a W-curve. Our findings highlight the importance of differentiating family from non-family firms, and provide a potential explanation fo...

  10. Changing Workplaces to Reduce Work-Family Conflict: Schedule Control in a White-Collar Organization

    Science.gov (United States)

    Kelly, Erin L.; Moen, Phyllis; Tranby, Eric

    2011-01-01

    Work-family conflicts are common and consequential for employees, their families, and work organizations. Can workplaces be changed to reduce work-family conflict? Previous research has not been able to assess whether workplace policies or initiatives succeed in reducing work-family conflict or increasing work-family fit. Using longitudinal data…

  11. A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

    Science.gov (United States)

    Akoury, Elie; El Zir, Elie; Mansour, Ahmad; Mégarbané, André; Majewski, Jacek; Slim, Rima

    2011-11-01

    To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.

  12. Family functioning and the course of adolescent bipolar disorder.

    Science.gov (United States)

    Sullivan, Aimee E; Judd, Charles M; Axelson, David A; Miklowitz, David J

    2012-12-01

    The symptoms of bipolar disorder affect and are affected by the functioning of family environments. Little is known, however, about the stability of family functioning among youth with bipolar disorder as they cycle in and out of mood episodes. This study examined family functioning and its relationship to symptoms of adolescent bipolar disorder, using longitudinal measures of family cohesion, adaptability, and conflict. Parent- and adolescent-reported symptom and family functioning data were collected from 58 families of adolescents with bipolar disorder (mean age =14.48±1.60; 33 female, 25 male) who participated in a 2-year randomized trial of family-focused treatment for adolescents (FFT-A). Cohesion and adaptability scores did not significantly change over the course of the study. Parent-reported conflict prior to psychosocial treatment moderated the treatment responses of families, such that high-conflict families participating in FFT-A demonstrated greater reductions in conflict over time than low-conflict families. Moreover, adolescent mania symptoms improved more rapidly in low-conflict than in high-conflict families. For all respondents, cohesion, adaptability, and conflict were longitudinally correlated with adolescents' depression scores. Finally, decreases in parent-reported conflict also predicted decreases in adolescents' manic symptoms over the 2-year study. Findings suggest that family cohesion, adaptability, and conflict may be useful predictors of the course of adolescent mood symptoms. Family conflict may be an important target for family intervention in early onset bipolar disorder. Copyright © 2012. Published by Elsevier Ltd.

  13. Maternal Parenting Stress and Child Perception of Family Functioning Among Families Affected by HIV.

    Science.gov (United States)

    Schulte, Marya T; Armistead, Lisa; Marelich, William D; Payne, Diana L; Goodrum, Nada M; Murphy, Debra A

    Mothers living with HIV (MLWH) experience stressors inherent to parenting, often within a context characterized by poverty, stigma, and/or limited social support. Our study assessed the relationship between parenting stress and child perceptions of family functioning in families with MLWH who have healthy school-age children. MLWH and their children (N = 102 pairs) completed measures addressing parenting stress and perceptions of family functioning (i.e., parent-child communication, family routines, and family cohesion). We used covariance structural modeling to evaluate the relationship between these factors, with results showing greater maternal parenting stress associated with poorer family functioning outcomes (reported by both the child and the mother). Findings offer support for the parenting stress-family functioning relationship by providing the child perspective along with the maternal perspective, and point to the need for interventions aimed at minimizing the impact of maternal parenting stress on family functioning. Copyright © 2017 Association of Nurses in AIDS Care. Published by Elsevier Inc. All rights reserved.

  14. Family planning management for the migrant population in sending areas. Urban family planning programme.

    Science.gov (United States)

    1997-02-01

    This brief article was adapted from a report by the Longchang County Government, Sichuan Province, China, at the National Conference on Urban Family Planning Programs. The Longchang County family planning program has shifted emphasis since 1990 toward management of out-migrant workers. Overpopulation in the family planning region resulted in each person having about one-sixth of an acre (0.6 mu) of land. There were about 200,000 surplus rural workers. 75,000 migrants left the region in 1995, of which 70,300 had signed birth control contracts and had received family planning certificates. Family planning township agencies in Longchang County increased their IEC and counseling services for migrants and their families. The Longchang County family planning program maintained family planning contacts in receiving areas in order to obtain pregnancy and birth information on the migrant population. During 1991-95 the number of unplanned births declined from 1394 to 71, and 97% of the births were planned.

  15. Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family.

    Science.gov (United States)

    Pernudy-Ubau, Allan; Salinas-Molina, Jaslyn; Requenez, Yaneris; Ortiz-Lopez, Marianela; Puller, Ann-Christin; García-Rosales, Kenia; Rodríguez-Estrada, Anaishelle; Rodríguez-Romero, Walter; Mejía-Baltodano, Gerardo; Luo, Hong-Yuan; Chui, David H K

    2017-01-01

    Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the β-globin gene results in the substitution of asparagine by lysine. Here, we document the identification of HBB: c.327 C>G in a 6-year-old female patient and her father from Nicaragua and Cuba, respectively. The presence of the abnormal Hb was confirmed by cellulose acetate electrophoresis, high performance liquid chromatography (HPLC) and genomic DNA sequencing. The β-globin gene sequences for both, father and daughter, disclosed the heterozygous mutation at codon 108 to be Hb Presbyterian or HBB: c.327 C>G. The mutant Hb was previously reported in four families from North America, Germany, Japan and Spain, respectively. This is the fifth family carrying HBB: c.327 C>G described to date and the first report from Latin America.

  16. Family Functioning in Suicidal Inpatients With Intimate Partner Violence

    Science.gov (United States)

    Heru, Alison M.; Stuart, Gregory L.; Recupero, Patricia Ryan

    2007-01-01

    Background: Intimate partner violence (IPV) is commonly bidirectional with both partners perpetrating and being victims of aggressive behaviors. In these couples, family dysfunction is reported across a broad range of family functions: communication, intimacy, problem solving, expression or control of anger, and designation of relationship roles. This study reports on the perceived family functioning of suicidal inpatients. Method: In this descriptive, cross-sectional study of adult suicidal inpatients, participants completed assessments of recent IPV and family functioning. Recruited patients were between 18 and 65 years of age and English fluent, had suicidal ideation, and were living with an intimate partner for at least the past 6 months. Intimate partner violence was assessed using the Conflict Tactics Scale-Revised, and family functioning was measured using the McMaster Family Assessment Device. The study was conducted from August 2004 through February 2005. Results: In 110 inpatients with suicidal ideation and IPV, family functioning was perceived as poor across many domains, although patients did report family strengths. Gender differences were not found in the overall prevalence of IPV, but when the sample was divided into good and poor family functioning, women with poorer family functioning reported more psychological abuse by a partner. For both genders, physical and psychological victimization was associated with poorer family functioning. Conclusion: Among psychiatric inpatients with suicidal ideation, IPV occurred in relationships characterized by general dysfunction. Poorer general family functioning was associated with the perception of victimization for both genders. The high prevalence of bidirectional IPV highlights the need for the development of couples treatment for this population of suicidal psychiatric inpatients. PMID:18185819

  17. Relationship between work-family conflict and a sense of coherence among Japanese registered nurses.

    Science.gov (United States)

    Takeuchi, Tomoko; Yamazaki, Yoshihiko

    2010-12-01

    Work-family conflict (WFC) refers to the conflict that arises between a person's work and family life. Previous studies have reported workload, job demands, and irregular working shifts as related to the WFC among nurses and have clarified that WFC is a predictor of job satisfaction, morale, and turnover intention. Very few studies have investigated WFC among Japanese nurses and no study has taken into consideration the sense of coherence (SOC) that helps nurses to cope with stress. The present study aimed to determine the relationship between WFC and SOC and to clarify how WFC and a SOC influence the mental and physical health of nurses in order to suggest ways of establishing work environments that enable nurses to achieve a balance between their work and family life. A self-report questionnaire survey of 388 Japanese female nurses was conducted. The data from 138 nurses who were a mother and/or wife were analyzed. Work-family conflict was significantly related to the SOC. It had a larger impact on the physical and mental health of nurses than their work and family characteristics. The SOC also had a major influence on the physical and mental health of nurses, while having a buffering effect on WFC with respect to depression. Our findings underscore the importance of taking organizational steps to create work environments that contribute to an enhanced SOC in order to reduce the WFC among nurses. © 2010 The Authors. Japan Journal of Nursing Science © 2010 Japan Academy of Nursing Science.

  18. Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

    Science.gov (United States)

    Haghighi, Amirreza; Haghighi, Alireza; Setoodeh, Aria; Saleh-Gohari, Nasrollah; Astuti, Dewi; Barrett, Timothy G

    2013-03-01

    Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the affected and healthy members of two families. The clinical diagnosis of WFS was confirmed by the existence of diabetes mellitus and optic atrophy in the affected patients, who in addition had severe neurodegenerative complications. Sequencing of WFS1 was undertaken in one affected member from each family. Targeted mutations were tested in all members of relevant families. Patients had most of the reported features of WFS. Two affected males in the first family had fathered unaffected children. We identified two homozygous mutations previously reported with apparently milder phenotypes: family 1: c.631G>A (p.Asp211Asn) in exon 5, and family 2: c.1456C>T (p.Gln486*) in exon 8. Heterozygous carriers were unaffected. This is the first report of male Wolfram patients who have successfully fathered children. Surprisingly, they also had almost all the complications associated with WFS. Our report has implications for genetic counseling and family planning advice for other affected families.

  19. The impact of a family skills training intervention among Burmese migrant families in Thailand: A randomized controlled trial.

    Science.gov (United States)

    Puffer, Eve S; Annan, Jeannie; Sim, Amanda L; Salhi, Carmel; Betancourt, Theresa S

    2017-01-01

    To conduct a randomized controlled trial assessing the impact of a family-based intervention delivered to Burmese migrant families displaced in Thailand on parenting and family functioning. Participants included 479 Burmese migrant families from 20 communities in Thailand. Families, including 513 caregivers and 479 children aged 7 to 15 years, were randomized to treatment and waitlist control groups. The treatment group received a 12-session family-based intervention delivered to groups of families by lay facilitators. Adapted standardized and locally derived measures were administered before and after the intervention to assess parent-child relationship quality, discipline practices, and family functioning. Compared with controls, intervention families demonstrated improved quality of parent-child interactions on scales of parental warmth and affection (Effect size (ES) = 0.25 caregivers; 0.26 children, both p quality (ES = -0.37, p children, p children and caregivers also reported an effect on relationship quality based on a locally derived measure (ES = 0.40 caregivers, p children, p Family functioning was improved, including family cohesion (ES = 0.46 caregivers; 0.36 children; both p children, p Family communication also improved according to children only (ES = 0.29, p children, reported decreased harsh discipline (ES = -0.39, p family well-being for migrant children and caregivers in a middle-income country. The strongest effects were on parent-child relationship quality and family functioning, while results were mixed on changes in discipline practices. Results suggest that a behavioral family-based approach implemented by lay providers in community settings is a promising intervention approach for strengthening families in highly stressed contexts. Clinicaltrials.gov: NCT01668992.

  20. 3M Syndrome: A Report of Four Cases in Two Families

    Science.gov (United States)

    Cebeci, Ayşe Nurcan

    2011-01-01

    3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. PMID:21911330

  1. Adolescent and parent views of family meals.

    Science.gov (United States)

    Fulkerson, Jayne A; Neumark-Sztainer, Dianne; Story, Mary

    2006-04-01

    To examine and compare the family mealtime environment from the perspectives of both adolescents and parents. Adolescents completed a school-based survey and parents participated in a telephone interview as part of Project EAT (Eating Among Teens). Participants were 902 adolescent females (n=424) and males (n=478) and one of their guardians/parents. Frequencies, chi(2) analyses, and Spearman correlations were used to assess relationships. Parents were more likely than adolescents to report eating five or more family meals per week, the importance of eating together, and scheduling difficulties (Ptogether, and more rule expectations at mealtime (PGirls reported more family meals per week and more scheduling conflicts than boys did; boys reported more rules at mealtime than girls did (Ptogetherness, and for role modeling behaviors that parents would like their children to emulate. Dietetics professionals can capitalize on positive attitudes toward family meals to help promote their frequency. Helping families learn to cook healthful, quick meals may reduce dependency on less healthful meal options, reduce the frequency of eating outside of the home, and promote greater nutritional intake.

  2. Adolescent Appraisals of Family Security as a Mediator of the Effect of Family Instability on Adolescent Self-Esteem

    OpenAIRE

    Merkaš, Marina

    2014-01-01

    The aim of this two-wave study was to examine the mediating role of adolescent appraisals of family security in the relation between family instability and adolescent self-esteem in a sample of 377 adolescents and their mothers. Mothers' reports of family instability at Time 1 were significantly and positively associated with adolescent appraisals of family insecurity at Time 1 and Time 2. Adolescent self-esteem at Time 2 was significantly and negatively related to family...

  3. Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.

    Science.gov (United States)

    Kim, Youn Jung; Kang, Jenny; Seymen, Figen; Koruyucu, Mine; Gencay, Koray; Shin, Teo Jeon; Hyun, Hong-Keun; Lee, Zang Hee; Hu, Jan C-C; Simmer, James P; Kim, Jung-Wook

    2017-01-01

    Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, quantitatively and/or qualitatively. The aim of this study was to identify the genetic etiologies of two families presenting with hypomaturation amelogenesis imperfecta. DNA was isolated from peripheral blood samples obtained from participating family members. Whole exome sequencing was performed using DNA samples from the two probands. Sequencing data was aligned to the NCBI human reference genome (NCBI build 37.2, hg19) and sequence variations were annotated with the dbSNP build 138. Mutations in MMP20 were identified in both probands. A homozygous missense mutation (c.678T>A; p.His226Gln) was identified in the consanguineous Family 1. Compound heterozygous MMP20 mutations (c.540T>A, p.Tyr180 * and c.389C>T, p.Thr130Ile) were identified in the non-consanguineous Family 2. Affected persons in Family 1 showed hypomaturation AI with dark brown discoloration, which is similar to the clinical phenotype in a previous report with the same mutation. However, the dentition of the Family 2 proband exhibited slight yellowish discoloration with reduced transparency. Functional analysis showed that the p.Thr130Ile mutant protein had reduced activity of MMP20, while there was no functional MMP20 in the Family 1 proband. These results expand the mutational spectrum of the MMP20 and broaden our understanding of genotype-phenotype correlations in amelogenesis imperfecta.

  4. Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Jung-Wook Kim

    2017-04-01

    Full Text Available Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, quantitatively and/or qualitatively. The aim of this study was to identify the genetic etiologies of two families presenting with hypomaturation amelogenesis imperfecta. DNA was isolated from peripheral blood samples obtained from participating family members. Whole exome sequencing was performed using DNA samples from the two probands. Sequencing data was aligned to the NCBI human reference genome (NCBI build 37.2, hg19 and sequence variations were annotated with the dbSNP build 138. Mutations in MMP20 were identified in both probands. A homozygous missense mutation (c.678T>A; p.His226Gln was identified in the consanguineous Family 1. Compound heterozygous MMP20 mutations (c.540T>A, p.Tyr180* and c.389C>T, p.Thr130Ile were identified in the non-consanguineous Family 2. Affected persons in Family 1 showed hypomaturation AI with dark brown discoloration, which is similar to the clinical phenotype in a previous report with the same mutation. However, the dentition of the Family 2 proband exhibited slight yellowish discoloration with reduced transparency. Functional analysis showed that the p.Thr130Ile mutant protein had reduced activity of MMP20, while there was no functional MMP20 in the Family 1 proband. These results expand the mutational spectrum of the MMP20 and broaden our understanding of genotype-phenotype correlations in amelogenesis imperfecta.

  5. Need for and use of family leave among parents of children with special health care needs.

    Science.gov (United States)

    Chung, Paul J; Garfield, Craig F; Elliott, Marc N; Carey, Colleen; Eriksson, Carl; Schuster, Mark A

    2007-05-01

    Parents of children with special health care needs are especially vulnerable to work-family conflicts that family leave benefits might help resolve. We examined leave-taking among full-time-employed parents of children with special health care needs. We identified all children with special health care needs in 2 large inpatient/outpatient systems in Chicago, Illinois, and Los Angeles, California, and randomly selected 800 per site. From November 2003 to January 2004, we conducted telephone interviews with 1105 (87% of eligible and successfully contacted) parents. Among the sample's 574 full-time-employed parents, we examined whether leave benefits predicted missing any work for child illness, missing >4 weeks for child illness, and ability to miss work whenever their child needed them. Forty-eight percent of full-time-employed parents qualified for federal Family and Medical Leave Act benefits; 30% reported employer-provided leave benefits (not including sick leave/vacation). In the previous year, their children averaged 20 missed school/child care days, 12 doctor/emergency department visits, and 1.7 hospitalizations. Although 81% of parents missed work for child illness, 41% reported not always missing work when their child needed them, and 40% of leave-takers reported returning to work too soon. In multivariate regressions, parents who were eligible for Family and Medical Leave Act benefits and aware of their eligibility had 3.0 times greater odds of missing work for child illness than ineligible parents. Parents with >4 weeks of employer-provided leave benefits had 4.7 times greater odds of missing >4 weeks than parents without benefits. Parents with paid leave benefits had 2.8 times greater odds than other parents of missing work whenever their child needed them. Full-time-employed parents of children with special health care needs experience severe work-family conflicts. Although most have leave benefits, many report unmet need for leave. Access to Family and

  6. 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.

  7. Families experiencing housing instability: the effects of housing programs on family routines and rituals.

    Science.gov (United States)

    Mayberry, Lindsay Satterwhite; Shinn, Marybeth; Benton, Jessica Gibbons; Wise, Jasmine

    2014-01-01

    Maintenance of family processes can protect parents, children, and families from the detrimental effects of extreme stressors, such as homelessness. When families cannot maintain routines and rituals, the stressors of poverty and homelessness can be compounded for both caregivers and children. However, characteristics of living situations common among families experiencing homelessness present barriers to the maintenance of family routines and rituals. We analyzed 80 in-depth interviews with parents who were experiencing or had recently experienced an instance of homelessness. We compared their assessments of challenges to family schedules, routines, and rituals across various living situations, including shelter, transitional housing programs, doubled-up (i.e., living temporarily with family or friends), and independent housing. Rules common across shelters and transitional housing programs impeded family processes, and parents felt surveilled and threatened with child protective service involvement in these settings. In doubled-up living situations, parents reported adapting their routines to those of the household and having parenting interrupted by opinions of friends and family members. Families used several strategies to maintain family routines and rituals in these living situations and ensure consistency and stability for their children during an otherwise unstable time. (c) 2014 APA, all rights reserved.

  8. 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).

  9. Family Commitment and Work Characteristics among Pharmacists.

    Science.gov (United States)

    Gubbins, Paul O; Ragland, Denise; Castleberry, Ashley N; Payakachat, Nalin

    2015-12-17

    Factors associated with family commitment among pharmacists in the south central U.S. are explored. In 2010, a cross-sectional mailed self-administered 70 item survey of 363 active licensed pharmacists was conducted. This analysis includes only 269 (74%) participants who reported being married. Outcome measures were family commitment (need for family commitment, spouse's family commitment), work-related characteristics (work challenge, stress, workload, flexibility of work schedule), and job and career satisfaction. Married participants' mean age was 48 (SD = 18) years; the male to female ratio was 1:1; 73% worked in retail settings and 199 (74%) completed the family commitment questions. Females reported a higher need for family commitment than males ( p = 0.02) but there was no significant difference in satisfaction with the commitment. Work challenge and work load were significantly associated with higher need for family commitment ( p work status, and practice setting. Higher work challenge was associated with higher career satisfaction. Higher job related stress was associated with lower job satisfaction. High work challenge and work load may negatively impact family function since married pharmacists would need higher family commitment from their counterparts. The impact of work-family interactions on pharmacy career satisfaction should be further investigated.

  10. Family Commitment and Work Characteristics among Pharmacists

    Directory of Open Access Journals (Sweden)

    Paul O. Gubbins

    2015-12-01

    Full Text Available Factors associated with family commitment among pharmacists in the south central U.S. are explored. In 2010, a cross-sectional mailed self-administered 70 item survey of 363 active licensed pharmacists was conducted. This analysis includes only 269 (74% participants who reported being married. Outcome measures were family commitment (need for family commitment, spouse’s family commitment, work-related characteristics (work challenge, stress, workload, flexibility of work schedule, and job and career satisfaction. Married participants’ mean age was 48 (SD = 18 years; the male to female ratio was 1:1; 73% worked in retail settings and 199 (74% completed the family commitment questions. Females reported a higher need for family commitment than males (p = 0.02 but there was no significant difference in satisfaction with the commitment. Work challenge and work load were significantly associated with higher need for family commitment (p < 0.01, when controlled for age, gender, number of dependents, work status, and practice setting. Higher work challenge was associated with higher career satisfaction. Higher job related stress was associated with lower job satisfaction. High work challenge and work load may negatively impact family function since married pharmacists would need higher family commitment from their counterparts. The impact of work-family interactions on pharmacy career satisfaction should be further investigated.

  11. Examining pedagogical practices in family systems nursing: intentionality, complexity, and doing well by families.

    Science.gov (United States)

    Moules, Nancy J; Bell, Janice M; Paton, Brenda I; Morck, Angela C

    2012-05-01

    Teaching graduate family nursing students the important and delicate practice of entering into and mitigating families' illness suffering signifies an educational practice that is rigorous, intense, and contextual, yet not articulated as expounded knowledge. This study examined the pedagogical practices of the advanced practice of Family Systems Nursing (FSN) as taught to master's and doctoral nursing students at the Family Nursing Unit, University of Calgary, using observation of expert and novice clinical practice, live supervision, videotape review, presession hypothesizing, clinical documentation, and the writing of therapeutic letters to families. A triangulation of research methods and data collection strategies, interpretive ethnography, autoethnography, and hermeneutics, were used. Students reported an intensity of learning that had both useful and limiting consequences as they developed skills in therapeutic conversations with families experiencing illness. Faculty used an intentional pedagogical process to encourage growth in perceptual, conceptual, and executive knowledge and skills of working with families.

  12. Family characteristics of stuttering children

    Directory of Open Access Journals (Sweden)

    Simić-Ružić Budimirka

    2008-01-01

    Full Text Available INTRODUCTION Stuttering is a functional impairment of speech, which is manifested by conscious, but nonintentionally interrupted, disharmonic and disrhythmic fluctuation of sound varying in frequency and intensity. Aetiology of this disorder has been conceived within the frame of theoretical models, which tend to connect genetic and epigenetic factors. OBJECTIVE The goal of the paper was to study the characteristics of the family functioning of stuttering children in comparison to the family functioning of children without speech disorder, which confirmed the justification of the introduction of family orientated therapeutic interventions into the therapy spectrum of child stuttering. METHOD Seventy-nine nucleus families of 3 to 6 year-old children were examined; of these, 39 families had stuttering children and 40 had children without speech disorder. The assessment of family characteristics was made using the Family Health Scale, an observer-rating scale which according to semistructured interview and operational criteria, measures 6 basic dimensions of family functioning: Emotional State, Communication, Borders, Alliances, Adaptability & Stability, Family Skills. A total score calculated from the basic dimensions, is considered as a global index of family health. RESULTS Families with stuttering children compared to families with children without speech disorder showed significantly lower scores in all the basic dimension of family functioning, as well as in the total score on the Family Health Scale. CONCLUSION Our research results have shown that stuttering children in comparison with children without speech disorder live in families with unfavorable emotional atmosphere, impaired communication and worse control over situational and developmental difficulties, which affect children's development and well-being. In the light of previous research, the application of family therapy modified according to the child's needs is now considered

  13. Changing Family Practices with Assistive Technology

    DEFF Research Database (Denmark)

    Sonne, Tobias; Müller, Jörg; Marshall, Paul

    2016-01-01

    Families of children with Attention Deficit Hyperactivity Disorder (ADHD) often report morning and bedtime routines to be stressful and frustrating. Through a design process involving domain professionals and families we designed MOBERO, a smartphone-based system that assists families...... in establishing healthy morning and bedtime routines with the aim to assist the child in becoming independent and lowering the parents’ frustration levels. In a two-week intervention with 13 children with ADHD and their families, MOBERO significantly improved children’s independence and reduced parents...... of families of children with ADHD....

  14. Familial Florid Cemento-Osseous Dysplasia: A Rare Manifestation in an Indian Family

    Science.gov (United States)

    Srivastava, Adit; Agarwal, Rahul; Soni, Romesh; Sachan, Avesh; Shivakumar, G. C.; Chaturvedi, T. P.

    2012-01-01

    Florid cemento-osseous dysplasia (FCOD) is one of the uncommon dysplasias affecting the maxillofacial region. The age group may vary from 19 to 76 years and typically presents in the 4th and 5th decades. In most cases patients do not have hereditary basis of disease, and only a few familial cases have been documented. As far as we know this is the 1st reported case of familial FCOD in an Indian family. The mother and son exhibited multiple sclerotic masses in both jaws. The mode of transmission appeared to be autosomal dominant with variable phenotypic expression. PMID:23198165

  15. State insurance parity legislation for autism services and family financial burden.

    Science.gov (United States)

    Parish, Susan; Thomas, Kathleen; Rose, Roderick; Kilany, Mona; McConville, Robert

    2012-06-01

    We examined the association between states' legislative mandates that private insurance cover autism services and the health care-related financial burden reported by families of children with autism. Child and family data were drawn from the National Survey of Children with Special Health Care Needs (N  =  2,082 children with autism). State policy characteristics were taken from public sources. The 3 outcomes were whether a family had any out-of-pocket health care expenditures during the past year for their child with autism, the expenditure amount, and expenditures as a proportion of family income. We modeled the association between states' autism service mandates and families' financial burden, adjusting for child-, family-, and state-level characteristics. Overall, 78% of families with a child with autism reported having any health care expenditures for their child for the prior 12 months. Among these families, 54% reported expenditures of more than $500, with 34% spending more than 3% of their income. Families living in states that enacted legislation mandating coverage of autism services were 28% less likely to report spending more than $500 for their children's health care costs, net of child and family characteristics. Families living in states that enacted parity legislation mandating coverage of autism services were 29% less likely to report spending more than $500 for their children's health care costs, net of child and family characteristics. This study offers preliminary evidence in support of advocates' arguments that requiring private insurers to cover autism services will reduce families' financial burdens associated with their children's health care expenses.

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

    Science.gov (United States)

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

    2011-02-01

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

  17. Family Functioning Differences Across the Deployment Cycle in British Army Families: The Perceptions of Wives and Children.

    Science.gov (United States)

    Pye, Rachel E; Simpson, Leanne K

    2017-09-01

    Military deployment can have an adverse effect on a soldier's family, though little research has looked at these effects in a British sample. We investigated wives' of U.K.-serving soldiers perceptions of marital and family functioning, across three stages of the deployment cycle: currently deployed, postdeployment and predeployed, plus a nonmilitary comparison group. Uniquely, young (aged 3.5-11 years) children's perceptions of their family were also investigated, using the parent-child alliance (PCA) coding scheme of drawings of the family. Two hundred and twenty British military families of regular service personnel from the British Army's Royal Armoured Corps, were sent survey packs distributed with a monthly welfare office newsletter. Wives were asked to complete a series of self-report items, and the youngest child in the family between the ages of 3.5 and 11 years was asked to draw a picture of their family. Complete data were available for 78 military families, and an additional 34 nonmilitary families were recruited via opportunity sampling. Results indicated wives of currently deployed and recently returned personnel were less satisfied with their family and its communication, and children's pictures indicated higher levels of dysfunctional parent-child alliance, whereas predeployed families responded similarly to nonmilitary families. Marital satisfaction was similar across all groups except predeployed families who were significantly more satisfied. Nonmilitary and predeployed families showed balanced family functioning, and currently and recently deployed families demonstrated poor family functioning. In comparison to nonmilitary families, predeployed families showed a large "spike" in the rigidity subscale of the Family Adaptability and Cohesion Evaluation Scale IV. Wives' perceptions of family functioning, but not marital satisfaction, differed between the deployment groups. The results from the coded children's drawings correlated with the self-report

  18. Socioeconomic status and parenting in ethnic minority families: testing a minority family stress model.

    Science.gov (United States)

    Emmen, Rosanneke A G; Malda, Maike; Mesman, Judi; van Ijzendoorn, Marinus H; Prevoo, Mariëlle J L; Yeniad, Nihal

    2013-12-01

    According to the family stress model (Conger & Donnellan, 2007), low socioeconomic status (SES) predicts less-than-optimal parenting through family stress. Minority families generally come from lower SES backgrounds than majority families, and may experience additional stressors associated with their minority status, such as acculturation stress. The primary goal of this study was to test a minority family stress model with a general family stress pathway, as well as a pathway specific to ethnic minority families. The sample consisted of 107 Turkish-Dutch mothers and their 5- to 6-year-old children, and positive parenting was observed during a 7-min problem-solving task. In addition, mothers reported their daily hassles, psychological distress, and acculturation stress. The relation between SES and positive parenting was partially mediated by both general maternal psychological stress and maternal acculturation stress. Our study contributes to the argument that stressors specific to minority status should be considered in addition to more general demographic and family stressors in understanding parenting behavior in ethnic minority families.

  19. Work-family conflict, work- and family-role salience, and women's well-being.

    Science.gov (United States)

    Noor, Noraini M

    2004-08-01

    The author considered both the direct effect and the moderator effect of role salience in the stress-strain relationship. In contrast to previous studies that have examined the effects of salience on well-being within specific social roles, the present study focused on the work-family interface. From a sample of 147 employed English women with children, the present results of the regression analyses showed that both effects are possible, depending on the outcome measures used. The author observed a direct effect of role salience in the prediction of job satisfaction; work salience was positively related to job satisfaction, over and above the main-effect terms of work-interfering-with-family (WIF) conflict and family-interfering-with-work (FIW) conflict. In contrast, the author found a moderator effect of role salience and conflict for symptoms of psychological distress. However, contrary to predictions, the author found that work salience exacerbated the negative impact of WIF conflict, rather than FIW conflict, on well-being. The author discussed these results in relation to the literature on work-family conflict, role salience, and the issue of stress-strain specificity.

  20. Family caring strategies in neutropenia.

    Science.gov (United States)

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

    2004-12-01

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