Familial colorectal cancer type X

DEFF Research Database (Denmark)

Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina

2015-01-01

Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention....

[Atypical manifestations in familial type 1 Waardenburg syndrome].

Science.gov (United States)

Sans, B; Calvas, P; Bazex, J

1998-01-01

Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

Obesogenic family types identified through latent profile analysis.

Science.gov (United States)

Martinson, Brian C; VazquezBenitez, Gabriela; Patnode, Carrie D; Hearst, Mary O; Sherwood, Nancy E; Parker, Emily D; Sirard, John; Pasch, Keryn E; Lytle, Leslie

2011-10-01

Obesity may cluster in families due to shared physical and social environments. This study aims to identify family typologies of obesity risk based on family environments. Using 2007-2008 data from 706 parent/youth dyads in Minnesota, we applied latent profile analysis and general linear models to evaluate associations between family typologies and body mass index (BMI) of youth and parents. Three typologies described most families with 18.8% "Unenriched/Obesogenic," 16.9% "Risky Consumer," and 64.3% "Healthy Consumer/Salutogenic." After adjustment for demographic and socioeconomic factors, parent BMI and youth BMI Z-scores were higher in unenriched/obesogenic families (BMI difference = 2.7, p typology. In contrast, parent BMI and youth BMI Z-scores were similar in the risky consumer families relative to those in healthy consumer/salutogenic type. We can identify family types differing in obesity risks with implications for public health interventions.

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Science.gov (United States)

Andrini, Olga; Keck, Mathilde; Briones, Rodolfo; Lourdel, Stéphane; Vargas-Poussou, Rosa; Teulon, Jacques

2015-06-15

The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism, but Bartter syndrome type 3 has the most heterogeneous presentation, extending from severe to very mild. A relatively large number of CLCNKB mutations have been reported, including gene deletions and nonsense or missense mutations. However, only 20 CLCNKB mutations have been functionally analyzed, due to technical difficulties regarding ClC-Kb functional expression in heterologous systems. This review provides an overview of recent progress in the functional consequences of CLCNKB mutations on ClC-Kb chloride channel activity. It has been observed that 1) all ClC-Kb mutants have an impaired expression at the membrane; and 2) a minority of the mutants combines reduced membrane expression with altered pH-dependent channel gating. Although further investigation is needed to fully characterize disease pathogenesis, Bartter syndrome type 3 probably belongs to the large family of conformational diseases, in which the mutations destabilize channel structure, inducing ClC-Kb retention in the endoplasmic reticulum and accelerated channel degradation. Copyright © 2015 the American Physiological Society.

A Comparison of Robotic Versus Laparoscopic Adrenalectomy in Patients With Primary Hyperaldosteronism.

Science.gov (United States)

Colvin, Jennifer; Krishnamurthy, Vikram; Jin, Judy; Shin, Joyce; Siperstein, Allan; Berber, Eren

2017-10-01

Over the last decade, robotic approaches have been described for removing adrenal tumors. Although there are reports comparing robotic and laparoscopic techniques in general, there are limited data on outcomes in patients with primary hyperaldosteronism (PHA). The aim of this study is to compare the safety and efficacy of robotic adrenalectomy (RA) versus laparoscopic adrenalectomy (LA) for PHA. The records of 20 patients who underwent RA for PHA were compared with 16 patients who underwent LA between 2000 and 2014. Data were retrospectively reviewed from a prospectively maintained, IRB-approved adrenal database. Statistical analysis was performed using t test and the Fisher exact analysis. Continuous variables are reported as mean±SEM. Demographic and clinical parameters were similar between the groups. There were no conversions to open in either group. Estimated blood loss, length of stay, and complication rates were comparable. Operative time was shorter in the robotic versus laparoscopic group (130±8.94 vs. 159±11.1 min, P=0.0487). In follow-up, the improvement in patients' blood pressure after adrenalectomy, as assessed by the reduction in the number of antihypertensive medications, was similar between the 2 groups. However, 1 patient in the RA and 1 patient in the LA group were not cured, as determined by postoperative aldosterone:renin levels. The biochemical cure rate between the groups was similar (P=0.529). To our knowledge, this is the first study comparing robotic versus laparoscopic resection of PHA. Our results show that the robotic approach was similar to laparoscopic regarding safety and efficacy. Operative time was shorter with the robotic approach, which could be related to more efficient dissection with wristed instrumentation.

Effect of Family Type on Secondary School Students\\' Performance ...

African Journals Online (AJOL)

This study investigated the effect of family type on Secondary School students\\' performance in physics in Ilorin metropolis. The sample comprised one hundred Senior Secondary II students from four schools in Ilorin metropolis. The instrument for the study titled \\"Effect of Family type on Students\\' Performance in Physics ...

The relationship between parental depressive symptoms, family type, and adolescent functioning.

Science.gov (United States)

Sieh, Dominik Sebastian; Sieh, Dominik Sebstian; Visser-Meily, Johanna Maria Augusta; Meijer, Anne Marie

2013-01-01

It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group). Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem). Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (pfamily types. Parental depressive symptoms were strongly related to child report of stress (pfamily with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined influence of family type and parental depressive symptoms on adolescent functioning. Older and female adolescents deserve particular attention.

Geriatric Family Support and Diabetic Type-2 Glycemic Control

Directory of Open Access Journals (Sweden)

Shiva Heidari

2008-07-01

Full Text Available Objectives: As the most part of geriatric (65 years and older diabetic care is given at home, family support has an important role in their blood sugar level control care. This study aimed to assess the relationship between family support and blood sugar level control in such elderly suffering type-2 diabetes. Methods & Materials: Via descriptive-correlative study, one hundred fifty geriatric patients with type-2 diabetes, who referred to Institute of Endocrinology and Metabolism in Iran University of Medical Sciences were selected. Samplings based on nonrandomized and convenience. The questionnaire consisted of three sections: demographic data glucose-labeled hemoglobin (HbA1C and received-perceived family support by applying the standard questionnaire of "Diabetes Social Support-Family Version" format. Data were analyzed by SPSS version 15 by using Chi-square and Pierson Tests. Results: Results showed a significant relationship between family support and glycemic control (r=-0.56, P<0.0001. Also there were significant relationships between family support, gender and marital status (P<0.0001. There were also significant relationships between glycemic control and marital status (P=0.02, financial status (P=0.04 and educational level (P=0.05. Conclusion: Findings of this research added further evidence about the impact of family support on the health of older adults with diabetes. These findings suggest using family centered nursing interventions and collaboration of family members in care of the elderly with type-2 diabetes.

[Types of families, living conditions, functioning of family systems and social maladjustment during latency and adolescence in underprivileged milieus].

Science.gov (United States)

Le Blanc, M; McDuff, P; Tremblay, R E

1991-06-01

Available data on the impact of certain types of families is lacking, and the results are often misleading with respect to maladjustment. Following a description of variations in delinquent activity and behaviour problems according to family type, the authors analyse the difficulties in the operation of family systems. Comparisons of six family types apply to data from 763 boys aged 10, 319 female and 426 male adolescents, aged 14 and 15: intact families, father-based and mother-based single-parent families, father-based and mother-based reconstituted families and substitute families. The article's data show that in the late eighties, nearly 40 per cent of children and adolescents living in low-income districts in Montreal belonged to disunited families. In addition, the data confirm a classic observation: in comparison with intact families, disunited families are underprivileged in relation to living conditions, deficient in relation to psychosocial functioning, and propitious to behaviour problems and delinquent activity. In addition, it has been established that certain disunited family types represent a considerable risk factor. The damaging effect of family structure increases in the following order: intact families, mother-based single-parent families, mother-based reconstituted families, substitute families, father-based reconstituted families and father-based single-parent families. Finally, certain intervention methods are suggested to help prevent behaviour and family problems.

The relationship between parental depressive symptoms, family type, and adolescent functioning.

Directory of Open Access Journals (Sweden)

Dominik Sebastian Sieh

Full Text Available It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group. Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem. Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (p<.01 than the comparison group. Adolescents of single parents reported more internalizing problems (p<.01 and externalizing problems (p<.05 than children from the other family types. Parental depressive symptoms were strongly related to child report of stress (p<.001. Adolescents of depressed chronically ill parents were particularly vulnerable to internalizing problems (interaction effect, p<.05. Older children and girls, and especially older girls, displayed more internalizing problems and stress. It can be concluded that growing up with a chronically ill parent in a family with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined

Understanding type 2 diabetes: including the family member's perspective.

LENUS (Irish Health Repository)

White, Patricia

2012-02-01

PURPOSE: The purpose of this study was to examine the relationship between psychological and social factors and diabetes outcomes in people with type 2 diabetes and their family members. METHODS: A total of 153 patients with type 2 diabetes were assessed at a diabetes outpatient clinic and postal questionnaires were sent to nominated family members. The measures examined were diabetes knowledge, social support, well-being, and illness perceptions. RESULTS: When compared with those with diabetes, family members reported lower positive well-being and lower levels of satisfaction with support. They also perceived diabetes as a more cyclical illness, which was controlled more by treatment than by the individual. Family members also reported that the person with diabetes was more emotionally distressed and knew more about diabetes than the patient had actually reported himself or herself. There were no differences between the family members of those in good or poor glycaemic control. CONCLUSIONS: This study reinforces the importance of understanding social context and illness beliefs in diabetes management. It also highlights the potential for including family members in discussions and education about diabetes management.

An unusual type of familial lipodystrophy

DEFF Research Database (Denmark)

Johansen, K; Rasmussen, M H; Kjems, L L

1995-01-01

A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance...

Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.

Science.gov (United States)

Park, C W; Lim, J H; Youn, D-Y; Chung, S; Lim, M-H; Kim, Y K; Chang, Y S; Lee, J-H

2011-02-01

Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype. However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression. The brothers had histories of polyhydramnios, prematurity, polyuria, deafness, and small body size. Laboratory findings showed hypokalemic metabolic alkalosis, normotensive hyperreninemic hyperaldosteronism, and an increased urinary excretion of sodium, potassium and chloride, consistent with BS Type IV. Microscopic examination of renal tissue showed hyperplasia of cells at the juxtaglomerular apparatus with dilated atrophic tubules and tubulointerstitial fibrosis. A weak barttin signal related to CIC-K expression in the cytoplasm of tubule cells, but not the basement membrane, was noted. A sequence analysis of the BSND gene showed that the affected males were homozygous for a missense G47R mutation in exon 1 of BSND. These findings suggest that the G47R mutation results in a dramatic decrease in barttin expression, which appears to be related to the location of CIC-K being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.

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

Involvement of family members in life with type 2 diabetes

DEFF Research Database (Denmark)

Grabowski, Dan; Andersen, Tue Helms; Varming, Annemarie

2017-01-01

OBJECTIVES: Family involvement plays a key role in diabetes management. Problems and challenges related to type 2-diabetes often affect the whole family, and relatives are at increased risk of developing diabetes themselves. We highlight these issues in our objectives: (1) to uncover specific...... family problems associated with mutual involvement in life with type 2-diabetes and (2) to analytically look at ways of approaching these problems in healthcare settings. METHODS: Qualitative data were gathered in participatory problem assessment workshops. The data were analysed in three rounds using...... radical hermeneutics. RESULTS: Problems were categorized in six domains: knowledge, communication, support, everyday life, roles and worries. The final cross-analysis focusing on the link between family identity and healthcare authenticity provided information on how the six domains can be approached...

The relationship between parental depressive symptoms, family type and adolescent functioning

NARCIS (Netherlands)

Sieh, D.S.; Visser-Meily, J.M.A.; Meijer, A.M.

2013-01-01

It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship

Hektor - an exceptional D-type family among Jovian Trojans

Science.gov (United States)

Rozehnal, J.; Brož, M.; Nesvorný, D.; Durda, D. D.; Walsh, K.; Richardson, D. C.; Asphaug, E.

2016-11-01

In this work, we analyse Jovian Trojans in the space of suitable resonant elements and we identify clusters of possible collisional origin by two independent methods: the hierarchical clustering and a so-called randombox. Compared to our previous work, we study a twice larger sample. Apart from Eurybates, Ennomos and 1996 RJ families, we have found three more clusters - namely families around asteroids (20961) Arkesilaos, (624) Hektor in the L4 libration zone and (247341) 2001 UV209 in L5. The families fulfill our stringent criteria, I.e. a high statistical significance, an albedo homogeneity and a steeper size-frequency distribution than that of background. In order to understand their nature, we simulate their long term collisional evolution with the Boulder code and dynamical evolution using a modified SWIFT integrator. Within the framework of our evolutionary model, we were able to constrain the age of the Hektor family to be either 1-4 Gyr or, less likely, 0.1-2.5 Gyr, depending on initial impact geometry. Since (624) Hektor itself seems to be a bilobed-shape body with a satellite, I.e. an exceptional object, we address its association with the D-type family and we demonstrate that the moon and family could be created during a single impact event. We simulated the cratering event using a smoothed particle hydrodynamics. This is also the first case of a family associated with a D-type parent body.

Types of work-family interface: well-being correlates of negative and positive spillover between work and family

NARCIS (Netherlands)

Kinnunen, U.; Feldt, T.; Geurts, S.A.E.; Pulkkinen, L.

2006-01-01

The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the

INTERETHNIC DIFFERENCES OF YOUNG FAMILY NEEDS IN VARIOUS TYPES OF HELP

Directory of Open Access Journals (Sweden)

Tatiana Vladimirovna Anafjanova

2013-08-01

Full Text Available Various types of young family needs noted by the author are studied in the article: a need for parents’ help, state support, medical and social services.It is established that needs for medical and social help initially predominate in the structure of requirements of ethnic cohorts of young families both in cities and countryside, increasing according to the period and duration of marriage of a family.Ethnic differences of young family needs are revealed in all studied cohorts in the structure of the less significant types of assistance – parents’ help and state support, undoubtedly, due to the differences in reproductive activity of young ethnic families depending on the area of residence.DOI: http://dx.doi.org/10.12731/2218-7405-2013-8-2

Confirmation of novel type 1 diabetes risk loci in families

DEFF Research Database (Denmark)

Cooper, J D; Howson, J M M; Smyth, D

2012-01-01

Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were identified and replicated, including replication evidence from 2,319 families. Here, we......, the Type 1 Diabetes Genetics Consortium (T1DGC), aimed to exclude the possibility that any of the 18 loci were false-positives due to population stratification by significantly increasing the statistical power of our family study....

The concurrent and longitudinal effects of child disability types and health on family experiences.

Science.gov (United States)

Wei, Xin; Yu, Jennifer W

2012-01-01

This study examines the concurrent and longitudinal effects of children's disability types and health on family experiences, namely, parent divorce, mother's unemployment, and receipt of social welfare. The parent and school staff survey data for 1999 and 2004 from the Special Education Elementary Longitudinal Study were analyzed, when the ages of children with disabilities ranged from 6 to 17. Weighted logistic regressions using Taylor Series Linearization were used to model the concurrent associations and longitudinal association between children's disability types and health and family experiences. Models were adjusted to account for other children in the family with disabilities, sociodemographic characteristics, and other family experiences variables. Family experiences varied significantly by disability type in 1999. Compared with families of children with learning disabilities, parents of children with emotional disturbances were 81% more likely to get divorced, and 2.5 times more likely to receive welfare from 1999 to 2004. Mothers of children with a secondary disability were 81% more likely to be unemployed than those of children without a secondary disability. These findings indicate that specific disability types in children have an influence on family experience, and that some of those influences may persist over time. Families of children with emotional disturbances appear to be particularly at risk for negative family experiences. Clinicians, educators, and policymakers should be aware of the complex needs of families of children with disabilities when considering the types of services and supports provided to both children with disabilities and their families.

Clinical characteristics of aldosterone-producing microadenoma, macroadenoma, and idiopathic hyperaldosteronism in 93 patients with primary aldosteronism.

Science.gov (United States)

Omura, Masao; Sasano, Hironobu; Saito, Jun; Yamaguchi, Kunio; Kakuta, Yukio; Nishikawa, Tetsuo

2006-11-01

Primary aldosteronism (PA) due to aldosterone-producing adenoma (APA) is a form of surgically curable secondary hypertension, and distinguishing APA from idiopathic hyperaldosteronism (IHA) is important for treatment. We made a differential diagnosis between APA and IHA using imaging tests such as adrenal CT and MRI as well as adrenal venous sampling (AVS) in all 93 cases of PA presenting at our institutions over the last decade. We identified 27 patients with aldosterone-producing microadenoma (APmicroA), all of whom could be diagnosed by AVS but not by the imaging tests. Then, we compared the clinical and roent-genological findings of these 27 patients with those of 42 patients with aldosterone-producing macroadenoma (APmacroA) and of 24 patients with IHA. Using surgically removed adrenal tissues, histopathological examinations and immunohistochemical analyses of steroidogenic enzymes were conducted. The findings for APmicroA were similar to those for APmacroA, except with respect to the diameter of the adrenal adenomas. Endocrinological and roentgenological findings for APmicroA were similar to those for IHA, but not to those for APmacroA. The rate of cure of hypertension was much greater in patients with APmicroA than in patients with APmacroA after the unilateral adrenalectomy (odds ratio, 4.0; p=0.028). In conclusion, it is important to accurately diagnose APmicroA, in which the laterality of the hyperproduction of aldosterone is only detectable by AVS, and to treat these patients by unilateral adrenalectomy in order to avoid long-term medical treatment and prevent hypertensive vascular complications.

Analysis of adrenocortical hyperplasia by computed tomography in patients with Cushing's disease, idiopathic hyperaldosteronism and adrenogenital syndrome

International Nuclear Information System (INIS)

Komiya, Ichiro; Ohara, Noriko; Nagasawa, Yoshitaka; Asawa, Takayuki; Hashizume, Kiyoshi; Takasu, Nobuyuki; Yamada, Takashi.

1994-01-01

We assessed the usefulness and reliability of computed tomography (CT scan) in evaluating adrenal hyperplasia in 38 patients, including 14 with Cushing's disease, 17 with idiopathic hyperaldosteronism (IHA), and 7 with the adrenogenital syndrome (AGS). Eighty-two normal subjects were also examined. We analyzed the shape of the adrenal gland and quantitated its thickness, width and length. Visual inspection revealed V-shaped right adrenal glands in 100% of patients with Cushing's disease, 94% of patients with IHA, 100% of patients with AGS and in 41% of the normal subjects. Triangular left adrenal glands were observed in 100% of patients with Cushing's disease, 82% of patients with IHA, 67% of patients with AGS and in 12% of the normal subjects. Quantitative analysis showed that the right adrenal gland was significantly thicker and longer in patients with Cushing's disease, IHA and in those with AGS than in normal subjects. The right adrenal gland was significantly wider in the patients with Cushing's disease and AGS than in control subjects. The left adrenal gland was significantly wider and longer in patients with Cushing's disease and AGS than in the normal controls. Analysis of individual data indicated that the upper limit of normal for thickness of the right adrenal was 7 mm. Therefore, adrenal hyperplasia was strongly suggested when the right adrenal gland was more than 7 mm thick. Our findings suggest that the CT scan is useful and reliable in diagnosing adrenal hyperplasia. (author)

Chudnovsky-Ramanujan Type Formulae for the Legendre Family

OpenAIRE

Chen, Imin; Glebov, Gleb

2017-01-01

We apply the method established in our previous work to derive a Chudnovsky-Ramanujan type formula for the Legendre family of elliptic curves. As a result, we prove two identities for $1/\\pi$ in terms of hypergeometric functions.

Geographic Region, Size, and Program Type in Family Practice Residencies.

Science.gov (United States)

Berg, Jolene K.; Garrard, Judith

1981-01-01

Research on residency education in family practice is discussed. Programmatic variables are examined: geographic region, size, and type of program. Definitions of these variables are provided, the current distribution of family practice residency programs across each of these variables is described, and data for use by other researchers is…

Cultural and family challenges to managing type 2 diabetes in immigrant Chinese Americans.

Science.gov (United States)

Chesla, Catherine A; Chun, Kevin M; Kwan, Christine M L

2009-10-01

Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple (six to seven) semistructured interviews with each couple in individual, group, and couple settings elicited beliefs about diabetes and narratives of care within the family and community. Interpretive narrative and thematic analysis were completed. A separate respondent group of 19 patients and spouses who met the inclusion criteria reviewed and confirmed the themes developed from the initial couples. Cultural and family challenges to diabetes management within foreign-born Chinese American families included how 1) diabetes symptoms challenged family harmony, 2) dietary prescriptions challenged food beliefs and practices, and 3) disease management requirements challenged established family role responsibilities. Culturally nuanced care with immigrant Chinese Americans requires attentiveness to the social context of disease management. Patients' and families' disease management decisions are seldom made independent of their concerns for family well-being, family face, and the reciprocal responsibilities required by varied family roles. Framing disease recommendations to include cultural concerns for balance and significant food rituals are warranted.

Hadron component in families observed with the Mt. Fuji thick type emulsion chamber

International Nuclear Information System (INIS)

Konishi, Eiichi

1978-01-01

Analysis of hadron component was made on the families detected with the thick type emulsion chamber exposed at Mt. Fuji. The thickness of the emulsion chamber was 70 c.u of Pb. The collecting power was 17 m 2 year. The character of hadrons in the families and their correlations with accompanying gamma-rays are shown. The energy spectra of ten families with number of gamma-ray not less than 5, gamma energy sum not less than 20 TeV and number of Pb jet not less than 5 minimum energy = 2 TeV, and their lateral distribution were investigated. These thick type emulsion chamber data are useful for the analysis of gamma-ray families observed by the thin type emulsion chamber. (Yoshimori, M.)

Family and Friends: Which Types of Personal Relationships Go Together in a Network?

Science.gov (United States)

Rözer, Jesper; Mollenhorst, Gerald; Poortman, Anne-Rigt

We examine the link between family and personal networks. Using arguments about meeting opportunities, competition and social influence, we hypothesise how the presence of specific types of family members (i.e., a partner, children, parents and siblings) and non-family members (i.e., friends, neighbours and colleagues) in the network mutually affect one another. In addition, we propose that-beyond their mere presence-the active role of family members in the network strongly affects the presence of non-family members in the network. Data from the third wave of the Survey on the Social Networks of the Dutch, collected in 2012 and 2013, show that active involvement is of key importance; more than merely having family members present in one's personal network, the active involvement of specific types of family members in the personal network is associated with having disproportionally more other family members and having somewhat fewer non-family members in the network.

Relationship between body mass index and family functioning, family communication, family type and parenting style among African migrant parents and children in Victoria, Australia: a parent-child dyad study

Directory of Open Access Journals (Sweden)

S. Cyril

2016-08-01

Full Text Available Abstract Background Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. Methods A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Results Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6 and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9, but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8 than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p < 0.05 and after (β = 1.73; 95 % CI: 0.53, 2.94; p < 0.001 controlling for confounders, and an inverse relationship between consensual family type and child BMI after adjustment (β = −1.92; 95 % CI: −3.59, −0.24; p < 0.05. There was no significant relationship between parental BMI and family functioning, communication, family type or parenting style. Conclusion Children’s perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need

Relationship between body mass index and family functioning, family communication, family type and parenting style among African migrant parents and children in Victoria, Australia: a parent-child dyad study.

Science.gov (United States)

Cyril, S; Halliday, J; Green, J; Renzaho, A M N

2016-08-03

Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6) and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9), but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8) than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p parental BMI and family functioning, communication, family type or parenting style. Children's perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need to adopt an intergenerational approach to promote a clear understanding of family dynamics between children and parents. Unless these intergenerational challenges associated with family dynamics are clearly addressed in obesity interventions, current obesity prevention initiatives will continue to widen the childhood obesity gap in Australia.

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

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A-ping Sun

2015-01-01

Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

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

Early Family System Types Predict Children's Emotional Attention Biases at School Age

Science.gov (United States)

Lindblom, Jallu; Peltola, Mikko J.; Vänskä, Mervi; Hietanen, Jari K.; Laakso, Anu; Tiitinen, Aila; Tulppala, Maija; Punamäki, Raija-Leena

2017-01-01

The family environment shapes children's social information processing and emotion regulation. Yet, the long-term effects of early family systems have rarely been studied. This study investigated how family system types predict children's attentional biases toward facial expressions at the age of 10 years. The participants were 79 children from…

Protein homology network families reveal step-wise diversification of Type III and Type IV secretion systems.

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Duccio Medini

2006-12-01

Full Text Available From the analysis of 251 prokaryotic genomes stored in public databases, the 761,260 deduced proteins were used to reconstruct a complete set of bacterial proteic families. Using the new Overlap algorithm, we have partitioned the Protein Homology Network (PHN, where the proteins are the nodes and the links represent homology relationships. The algorithm identifies the densely connected regions of the PHN that define the families of homologous proteins, here called PHN-Families, recognizing the phylogenetic relationships embedded in the network. By direct comparison with a manually curated dataset, we assessed that this classification algorithm generates data of quality similar to a human expert. Then, we explored the network to identify families involved in the assembly of Type III and Type IV secretion systems (T3SS and T4SS. We noticed that, beside a core of conserved functions (eight proteins for T3SS, seven for T4SS, a variable set of accessory components is always present (one to nine for T3SS, one to five for T4SS. Each member of the core corresponds to a single PHN-Family, while accessory proteins are distributed among different pure families. The PHN-Family classification suggests that T3SS and T4SS have been assembled through a step-wise, discontinuous process, by complementing the conserved core with subgroups of nonconserved proteins. Such genetic modules, independently recruited and probably tuned on specific effectors, contribute to the functional specialization of these organelles to different microenvironments.

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

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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.

Supportive and non-supportive interactions in families with a type 2 diabetes patient

DEFF Research Database (Denmark)

Bennich, Birgitte B; Røder, Michael E; Overgaard, Dorthe

2017-01-01

changes and diabetes self-management. The purpose of this integrative review was to summarise and assess published studies on the intra-family perspective of supportive and non-supportive interactions in families with a type 2 diabetes patient. METHODS: Included in the review were published qualitative......BACKGROUND: Type 2 diabetes and its management affect the patient and the close family potentially causing either psychological distress or increased sense of responsibility and collaboration in these families. Interactions between patient and family play an important role in maintaining lifestyle...... of reference lists. Quality assessment, data extraction and analysis were undertaken on all included studies. RESULTS: We identified five eligible research papers. Employing content analysis three categories describing interactions were refined: Impact of practical action, impact of emotional involvement...

The role of family nutritional support in Japanese patients with type 2 diabetes mellitus.

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Watanabe, Koin; Kurose, Takeshi; Kitatani, Naomi; Yabe, Daisuke; Hishizawa, Masahiro; Hyo, Takanori; Seino, Yutaka

2010-01-01

We investigated the role of family support in glycemic control by nutritional self-care behavior of Japanese patients with type 2 diabetes. One hundred twelve Japanese out-patients with type 2 diabetes were recruited for the study at Kansai Electric Power Hospital. Interviews were conducted and HbA1c and triglyceride levels were measured. HbA1c levels were significantly related to family nutritional support. Patients under 60 years old with family nutritional support showed significantly lower HbA1c than patients without family support (p1 week) showed similar outcomes in glycemic control. Patients who appreciate the support and follow the advice showed lower HbA1c (6.88 +/- 0.22%) than (7.43 +/- 0.23%) patients who appreciate the advice but sometimes feel emotional barriers. Family nutritional support is useful in improving metabolic outcome of diabetic patients. Self-care practice in disease management should be carefully adjusted to the family setting of type 2 diabetic patients. Emotional barriers to family support may affect the metabolic consequences, especially in the Japanese elderly.

[The child from families with type 1 diabetes].

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Wasikowa, Renata; Suchańska, Dorota; Suchańska, Danuta; Basiak, Aleksander; Noczyńska, Anna; Stasińska, Teresa

2005-01-01

Diabetes type 1 is observed in individuals with a genetic predisposition to the disease. Observed is a 3-5 fold risk for congenital defects, therefore diabetes type 1 is one of the highest known teratogenic risk factor. The main factor responsible for the development of congenital defects is hyperglycemia. Observed are congenital defects of the central nervous system, the bones, urinary and digestive tract. Characteristic is macrosomia. Observed are hypocalcemia, hypomagnesemia, polycythemia, hyperbilirubinemia, hypertrophic cardiomyopathy, respiratory disturbances. Children from families with diabetes type 1 are at high risk for the development of the disease in the newborn period, additional diseases. They must be in permanent medical control.

Psychological adjustment of Yoruba adolescents as influenced by family type: a research note.

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Oyefeso, A O; Adegoke, A R

1992-05-01

This research examines the influence of family type on the psychological adjustment of Yoruba adolescents. Using a sample of 116 adolescents, 69 males and 47 females, with mean age of 17.8 years of age (S.D. = 1.72), the results reveal that male adolescents from monogamous families experience better psychological adjustment than their polygynous counterparts, whereas no such difference exists in the levels of psychological adjustment of female adolescents from both family types. These findings suggest that (i) sex-role prescription influences psychological adjustment of adolescents in Yoruba societies, and (ii) female children enjoy more protective upbringing in polygynous families than their male counterparts.

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.

Types of work-family interface: well-being correlates of negative and positive spillover between work and family.

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Kinnunen, Ulla; Feldt, Taru; Geurts, Sabine; Pulkkinen, Lea

2006-04-01

The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the subjects' general and domain-specific well-being were examined. The sample (n = 202) consisted of Finnish employees, aged 42, who had a spouse/partner. Confirmatory factor analyses indicated that a four-factor model, including negative work-to-family spillover, negative family-to-work spillover, positive work-to-family spillover, and positive family-to-work spillover, was superior compared to the other factor models examined. Path analysis showed, as hypothesized, that the negative work-to-family spillover was most strongly related to low well-being at work (job exhaustion) and next strongly to low general well-being (psychological distress), whereas the negative family-to-work spillover was associated with low well-being in the domain of family (marital dissatisfaction). Positive work-to-family spillover was positively related both to well-being at work and general well-being. Inconsistent with our expectations, positive family-to-work spillover was not directly related to any of the well-being indicators examined.

Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1

International Nuclear Information System (INIS)

Brandi, M.L.; Aurbach, G.D.; Fitzpatrick, L.A.; Quarto, R.; Spiegel, A.M.; Bliziotes, M.M.; Norton, J.A.; Doppman, J.L.; Marx, S.J.

1986-01-01

Hyperplasia of the parathyroid glands is a central feature of familial multiple endocrine neoplasia type 1. We used cultured bovine parathyroid cells to test for mitogenic activity in plasma from patients with this disorder. Normal plasma stimulated [ 3 H]thymidine incorporation, on the average, to the same extent as it was stimulated in a plasma-free control culture. This contrasted with the results of the tests with plasma from patients with familial multiple endocrine neoplasia type 1, in which parathyroid mitogenic activity increased 2400 percent over the control value (P less than 0.001). Plasma from these patients also stimulated the proliferation of bovine parathyroid cells in culture, whereas plasma from normal subjects inhibited it. Parathyroid mitogenic activity in plasma from the patients with familial multiple endocrine neoplasia type 1 was greater than that in plasma from patients with various other disorders, including sporadic primary hyperparathyroidism (with adenoma, hyperplasia, or cancer of the parathyroid), sporadic primary hypergastrinemia, sporadic pituitary tumor, familial hypocalciuric hypercalcemia, and multiple endocrine neoplasia type 2 (P less than 0.05). Parathyroid mitogenic activity in the plasma of patients with familial multiple endocrine neoplasia type 1 persisted for up to four years after total parathyroidectomy. The plasma also had far more mitogenic activity in cultures of parathyroid cells than did optimal concentrations of known growth factors or of any parathyroid secretagogue. This mitogenic activity had an apparent molecular weight of 50,000 to 55,000. We conclude that primary hyperparathyroidism in familial multiple endocrine neoplasia type 1 may have a humoral cause

Relationship between family support and quality of life of type-2 ...

African Journals Online (AJOL)

Materials and Methods: A cross-sectional study of 250 adult patients with type 2 diabetes mellitus was carried out over twenty (20) weeks. Respondents' family support was measured using Perceived Social Support – Family Scale {PSS- Fa}, while their quality of life was measured using the short version of the World Health ...

Family-Work Conflict and Type-E Personality as Stress Inducers in Married Female Nigerian University Administrators

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Shobola, A. A.; Nwoha, P. C.

2013-01-01

This piece of article is culled from a larger study. The study investigated the relationship between family-work conflict, Type-E personality and stress in married female Nigerian University Administrators. The study adopted ex-post facto design. The sample consisted of 800 female administrators in the senior cadre of executive/administrative…

Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

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Yong Zhang

2011-01-01

Full Text Available Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the controls were investigated cross-sectionally with life orientation test-revised (LOT-R, type D personality Scale-14 (DS14, family environment scale (FES, and Zung self-depression scale (SDS; respectively, all scales were administered in Chinese. Results. Chinese-depressed adolescents showed more cognitive distortion, type D personality, and adverse family environment than control groups. Furthermore, lower level of Optimism, negative affectivity, and poor family cohesion may increase the risk of depression in Chinese adolescents. Conclusions. Our study indicates that lower level of Optimism, Negative Affectivity, and poor Family Cohesion factors were implicated to contribute to depression in Chinese adolescents. Lower level of optimism and negative affectivity may be crucial associated factors of depression among these samples. our findings pointed to the importance of broad screening and intervention of vulnerable population.

Unilateral adrenal hyperplasia is a usual cause of primary hyperaldosteronism. Results from a Swedish screening study

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Sigurjonsdottir Helga

2012-09-01

Full Text Available Abstract Background The existence of unilateral adrenal hyperplasia (AH has been considered a rare cause of primary hyperaldosteronism (PA. Methods In a prospective study we screened for PA in a non-selected (NSP and selected hypertensive population (SP, to define the cause of PA. We included 353 consecutive patients with hypertension; age 20 to 88 years, 165 women and 188 men, from a university-based Hypertension and Nephrology Outpatient clinics (123 SP and two primary care centres, (230 NSP from the same catch-up area. Serum aldosterone and plasma renin activity (PRA were measured and the ARR calculated. Verifying diagnostic procedure was performed in patients with both elevated aldosterone and ARR. Patients diagnosed with PA were invited for adrenal venous sampling (AVS and offered laparoscopic adrenalectomy when AVS found the disease to be unilateral. Results After screening, 46 patients, 13% of the whole population (22.8% SP and 7.8% NSP had aldosterone and ARR above the locally defined cut-off limits (0.43 nmol/l and 1.28 respectively. After diagnostic verification, 20 patients (6% had PA, (14.5% SP and 1.4% NSP. Imaging diagnostic procedures with CT-scans and scintigraphy were inconclusive. AVS, performed in 15 patients verified bilateral disease in 4 and unilateral in 10 patients. One AVS failed. After laparoscopic adrenalectomy, 4 patients were found to have adenoma and 5 unilateral AH. One patient denied operation. Conclusion The prevalence of PA was in agreement with previous studies. The study finds unilateral PA common and unilateral AH as half of those cases. As may be suspected PA is found in much higher frequency in specialised hypertensive units compared to primary care centers. AVS was mandatory in diagnosis of unilateral PA.

New families of interpolating type IIB backgrounds

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Minasian, Ruben; Petrini, Michela; Zaffaroni, Alberto

2010-04-01

We construct new families of interpolating two-parameter solutions of type IIB supergravity. These correspond to D3-D5 systems on non-compact six-dimensional manifolds which are mathbb{T}2 fibrations over Eguchi-Hanson and multi-center Taub-NUT spaces, respectively. One end of the interpolation corresponds to a solution with only D5 branes and vanishing NS three-form flux. A topology changing transition occurs at the other end, where the internal space becomes a direct product of the four-dimensional surface and the two-torus and the complexified NS-RR three-form flux becomes imaginary self-dual. Depending on the choice of the connections on the torus fibre, the interpolating family has either mathcal{N}=2 or mathcal{N}=1 supersymmetry. In the mathcal{N}=2 case it can be shown that the solutions are regular.

[Family physician attitudes towards insulinization in type II diabetics].

Science.gov (United States)

Díaz-Rodríguez, M I; Sánchez-Morales, M C; Aceña-Gutiérrez, M T; Carrasco-Flores, J; Villarín-Castro, A

2014-04-01

To determine the attitudes of Toledo Health Area family physicians about starting insulinization in type 2 diabetic patients. Descriptive, cross-sectional study. A self-completed questionnaire was given to 353 family physicians of the Toledo Health Area, asking about socio-demographic and occupational data, and including the Spanish version of the Diabetes Attitude Scale (DAS-3sp) questionnaire to evaluate attitudes and motivations related to diabetes. A total of 66 responses were received, of which 50.8% were from females. Mean age (±standard deviation) was 49.97±7.40. Results of the different DAS-3sp subscales (values from 1 to 5) were: S1 (need for special training): 4.52±0.38; S2 (seriousness of type2 diabetes): 4.18±0.42; S3 (value of tight control): 4.15±0.39; S4 (psychosocial impact of diabetes): 3.79±0.48; and S5 (need for patient autonomy): 3.72±0.55. No statistically significant differences were obtained with the four first subscales with sex, specialized training, being a resident tutor, type of contract or clinical setting. There were statistically significant differences in S5 compared with sex (3.90±0,60 in men vs 3.54±0.45 in women; t=2.701; P=.009) and with being a resident tutor (3.99±0.58 vs 3.64±0.52 in non-tutors; t=2.188; P=.033). The attitudes regarding starting insulin treatment in type2 diabetic patients are positives among Toledo Health Area family physicians, specially in the clinical aspects, but they are lower in the psychosocial impact and patient autonomy. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Dentin dysplasia type I : Five cases within one family

NARCIS (Netherlands)

Kalk, WWI; Batenburg, RHK; Vissink, A

Five cases of dentin dysplasia type I within one family are described. Clinically and radiologically, such patients are characterized by a delayed eruption pattern, opacity of the incisional margins, hypermobility of the teeth, short and defective roots, and obliterated pulp chambers. A conservative

Family PArtners in Lifestyle Support (PALS): Family-Based Weight Loss for African American Adults with Type 2 Diabetes

Science.gov (United States)

Samuel-Hodge, Carmen D.; Holder-Cooper, Judith C.; Gizlice, Ziya; Davis, Gwendolyn; Steele, Sonia P.; Keyserling, Thomas C.; Kumanyika, Shiriki K.; Brantley, Phillip J.; Svetkey, Laura P.

2016-01-01

Objective To develop and test a family-centered behavioral weight loss intervention for African American adults with type 2 diabetes. Methods In this randomized trial, dyads consisting of African American adult with overweight or obesity and type 2 diabetes (index participant) paired with a family partner with overweight or obesity, but not diagnosed with diabetes, were assigned in a 2:1 ratio to a 20-week special intervention (SI) or delayed intervention (DI) control group. The primary outcome was weight loss among index participants at 20 weeks follow-up. Results One hundred-eight participants (54 dyads – 36 (SI) and 18 (DI) dyads) were enrolled: 81% females; mean age, 51 years; mean weight,103 kg; and mean BMI, 37 kg/m2. At post-intervention, 96 participants (89%) returned for follow-up measures. Among index participants, mean difference in weight loss between groups was −5.0 kg, pfamily interactions, and dietary, physical activity, and diabetes self-care behaviors. SI family partners also had significant weight loss (−3.9 kg (SI) vs. −1.0 kg (DI) p=0.02). Conclusions A family-centered, behavioral weight loss intervention led to clinically significant short-term weight loss among family dyads. PMID:27911049

[The medical social aspects of childhood traumatism accounting the family type].

Science.gov (United States)

2012-01-01

In the Russian Federation the childhood traumatism is considered as one of progressing social dangers. The interest in studying the impact of family type on childhood morbidity formation is increased during last years. The family is a fundamental principle of mechanisms of public health formation. The questionnaire poll of parents of children suffered from traumas provides the data concerning the medical social risk factors impacting the level of childhood traumatism. The one of the most important prevention measures is the impact on the family.

[Clinical and genetic investigation of families with Waardenburg syndrome type 2].

Science.gov (United States)

Chen, H S; Liao, X B; Liu, Y L; He, C F; Zhang, H; Jiang, L; Feng, Y; Mei, L Y

2016-12-01

Objective: To investigate the clinical chacteration and molecular pathology of Waardenburg syndrome type 2 in seven families, and provide genetic diagnosis and hereditary counseling for family members. Method: Clinical data of seven families with WS2（14 patients）were collected. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of microphthalmia associated transcription factor (MITF), sex-determining region Y-box 10(SOX10), snail family zinc finger 2 (SNAI2) and endothelin receptor type B（EDNRB）were analyzed by polymerase chain reaction and DNA sequencing. Then the raw data was analyzed. Result: The most common manifestations of WS2 are sensorineural hearing loss(10/14,71.4%), freckle(7/14, 50.0%)，heterochromia iridis(6/14, 42.9%) and premature greying(5/14,35.7%). All the deafness phenotype is congenital, bilateral profound sensorineural hearing loss. Freckles phenotype is different from cutaneous pigment abnormalities of WS in Westerners. The heterozygous mutation, c.328C>T in exon 3 of the MITF gene was detected in the proband and all patients of pedigree 2. However, no pathological mutation of the relevant genes (SOX10,SNAI2 and EDNRB) was detected in other pedigrees. Conclusion: There are obvious variations in clinical features of WS, while freckles may be a special subtype of cutaneous pigment disturbances. The MITF gene mutation, R110X,is therefore considered the disease causing mutation in pedigree WS02.However, there are novel disease causing genes or copy number variations in Waardenburg syndrome type 2, which require further research. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Clinical and genetic investigation of families with type II Waardenburg syndrome.

Science.gov (United States)

Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing

2016-03-01

The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History

Science.gov (United States)

Giordimaina, Alicia M.; Sheldon, Jane P.; Kiedrowski, Lesli A.; Jayaratne, Toby Epstein

2015-01-01

Kinkeepers facilitate family communication and may be key to family medical history collection and dissemination. Middle-aged women are frequently kinkeepers. Using type 2 diabetes (T2DM) as a model, we explored whether the predicted gender and age effects of kinkeeping can be extended to family medical historians. Through a U.S. telephone survey,…

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

Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

DEFF Research Database (Denmark)

Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

2013-01-01

Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

Prevalence of a positive family history of type 2 diabetes in women with polycystic ovarian disease.

Science.gov (United States)

Fox, R

1999-12-01

The known association between insulin resistance and polycystic ovarian disease (PCOD) has been studied by determination of the prevalence of a positive family history of diabetes in a consecutive series of oligomenorrheic women with polycystic ovaries and eumenorrheic women with normal ovaries who served as controls. A significantly greater proportion of the families of the patients with PCOD had at least one member affected by type 2 diabetes (39.1% of the PCOD group and 7.6% of the controls; p PCOD had an increased prevalence of type 2 diabetes within their families. Paternal and maternal family members affected were in similar proportions, there being no evidence of preferential transmission through the female line in this study. The increased prevalence of type 2 diabetes in the families of women with polycystic ovaries is further evidence for the association between PCOD and insulin resistance, and provides a possible explanation for the familial nature of the ovarian disorder.

Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

OpenAIRE

Zhang, Yong; Li, Hengfen; Zou, Shaohong

2011-01-01

Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the con...

Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus

NARCIS (Netherlands)

Besseling, Joost; Kastelein, John J. P.; Defesche, Joep C.; Hutten, Barbara A.; Hovingh, G. Kees

2015-01-01

IMPORTANCE Familial hypercholesterolemia is characterized by impaired uptake of cholesterol in peripheral tissues, including the liver and the pancreas. In contrast, statins increase the cellular cholesterol uptake and are associated with increased risk for type 2 diabetes mellitus. We hypothesize

Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme.

Science.gov (United States)

Petruzelkova, L; Dusatkova, P; Cinek, O; Sumnik, Z; Pruhova, S; Hradsky, O; Vcelakova, J; Lebl, J; Kolouskova, S

2016-12-01

Patients with maturity-onset diabetes of the young (MODY) might be over-represented in families with histories of Type 1 diabetes. Our aim was to re-evaluate families participating in the Czech T1D Prediction Programme (PREDIA.CZ) with at least two members affected with diabetes to assess the proportion of MODY among these families and determine its most significant clinical predictors. Of the 557 families followed up by the PREDIA.CZ, 53 (9.5%) had two or more family members with diabetes. One proband with diabetes from these families was chosen for direct sequencing of the GCK, HNF1A, HNF4A and INS genes. Non-parametric tests and a linear logistic regression model were used to evaluate differences between MODY and non-MODY families. MODY was genetically diagnosed in 24 of the 53 families with multiple occurrences of diabetes (45%). Mutations were detected most frequently in GCK (58%), followed by HNF1A (38%) and INS (4%). MODY families were more likely to have a parent with diabetes and had a higher proportion of females with diabetes than non-MODY families. Higher age (P MODY families already presenting with diabetes. A prediction programme for Type 1 diabetes would provide a useful new source of patients with MODY most likely to benefit from an accurate diagnosis. This identification has implications for patient treatment and disease prognosis. © 2015 Diabetes UK.

Reducing health risk in family members of patients with type 2 diabetes: views of first degree relatives

Directory of Open Access Journals (Sweden)

O'Sullivan Bernadette

2009-12-01

Full Text Available Abstract Background Patients with type 2 diabetes can have an important role in discussing health risk within families. This study aimed to establish the acceptability to first degree relatives towards their relative with type 2 diabetes intervening as health promoters in their own families, using the Health Belief Model as a theoretical framework for evaluation. Methods Cross-sectional questionnaire design. Survey questionnaire for first degree relative (sibling or child mailed to a random sample of patients with type 2 diabetes registered with an urban hospital diabetes clinic (n = 607 eligible patients. Patients were asked to pass on questionnaires to one to two first degree relatives. Results Questionnaires were returned from 257 families (42% response rate with two responses provided by 107 families (a total of 364 questionnaires. The majority (94% of first degree relatives of patients with type 2 diabetes would like to be informed about reducing their risk. Half (48% of respondents reported being spoken to by a relative with type 2 diabetes about their risk of diabetes. Those spoken to were more likely to see themselves at risk of diabetes, to worry about developing diabetes and to view diabetes as a serious condition. Conclusions A role for patients with type 2 diabetes in discussing health risk in their family appears to be acceptable to many relatives. Discussion of risk and interventions to reduce health risk with their relatives should be encouraged in patients with type 2 diabetes.

Reducing health risk in family members of patients with type 2 diabetes: views of first degree relatives.

LENUS (Irish Health Repository)

Whitford, David L

2009-01-01

BACKGROUND: Patients with type 2 diabetes can have an important role in discussing health risk within families. This study aimed to establish the acceptability to first degree relatives towards their relative with type 2 diabetes intervening as health promoters in their own families, using the Health Belief Model as a theoretical framework for evaluation. METHODS: Cross-sectional questionnaire design. Survey questionnaire for first degree relative (sibling or child) mailed to a random sample of patients with type 2 diabetes registered with an urban hospital diabetes clinic (n = 607 eligible patients). Patients were asked to pass on questionnaires to one to two first degree relatives. RESULTS: Questionnaires were returned from 257 families (42% response rate) with two responses provided by 107 families (a total of 364 questionnaires). The majority (94%) of first degree relatives of patients with type 2 diabetes would like to be informed about reducing their risk. Half (48%) of respondents reported being spoken to by a relative with type 2 diabetes about their risk of diabetes. Those spoken to were more likely to see themselves at risk of diabetes, to worry about developing diabetes and to view diabetes as a serious condition. CONCLUSIONS: A role for patients with type 2 diabetes in discussing health risk in their family appears to be acceptable to many relatives. Discussion of risk and interventions to reduce health risk with their relatives should be encouraged in patients with type 2 diabetes.

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

Science.gov (United States)

Wang, Xueling; Lin, Xiao-Jiang; Tang, Xiangrong; Chai, Yong-Chuan; Yu, De-Hong; Chen, Dong-Ye; Wu, Hao

2017-11-01

The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. The affected members of this family had two different recessive disorders, USH2 and WS4. By targeted next-generation sequencing, we identified that USH2 was caused by a novel missense mutation, p.V4907D in GPR98; whereas WS4 due to p.V185M in EDNRB. This is the first report of homozygous p.V185M mutation in EDNRB in patient with WS4. This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. Copyright © 2017 Elsevier B.V. All rights reserved.

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

OpenAIRE

Astuto, Lisa M.; Weston, Michael D.; Carney, Carol A.; Hoover, Denise M.; Cremers, Cor W.R.J.; Wagenaar, Mariette; Moller, Claes; Smith, Richard J.H.; Pieke-Dahl, Sandra; Greenberg, Jacquie; Ramesar, Raj; Jacobson, Samuel G.; Ayuso, Carmen; Heckenlively, John R.; Tamayo, Marta

2000-01-01

Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were info...

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.

On a family of Bessel type functions: Estimations, series, overconvergence

Science.gov (United States)

Paneva-Konovska, Jordanka

2017-12-01

A family of the Bessel-Maitland functions are considered in this paper and some useful estimations are obtained for them. Series defined by means of these functions are considered and their behaviour on the boundaries of the convergence domains is discussed. Using the obtained estimations, necessary and sufficient conditions for the series overconvergence, as well as Hadamard type theorem are proposed.

Family type, domestic violence and under-five mortality in Nigeria.

Science.gov (United States)

Titilayo, Ayotunde; Anuodo, Oludare O; Palamuleni, Martin E

2017-06-01

Nigeria still showcases unacceptably high under-five mortality despite all efforts to reduce the menace. Investigating the significant predictors of this occurrence is paramount. To examine the interplay between family setting, domestic violence and under-five death in Nigeria. Cross-sectional secondary data, the 2013 Nigeria Demographic and Health Survey, (NDHS) women dataset was utilized. Subset of 26,997 ever married and ever had childbirth experience respondents were extracted from the nationally representative women dataset. Dependent and Independent variables were recoded to suit the statistical analysis for the study. The study revealed that 33.7% of the respondents were in polygyny family setting; one-quarter of the ever married women reported ever experiencing one form of domestic violence or the other. The results of the logistic regressions indicate that family type and domestic violence were significant predictors of under-five children mortality in Nigeria. The study concludes that women who belong to polygyny family setting and who ever experienced sexual domestic violence are highly susceptible to experience under-five children mortality than their counterparts. The study recommends that strategies and policies aimed at improving child survival should strengthen women empowerment initiatives, discourage multiple wives and campaign against domestic violence in Nigeria.

Screening for Partner Violence Among Family Mediation Clients: Differentiating Types of Abuse.

Science.gov (United States)

Cleak, Helen; Schofield, Margot J; Axelsen, Lauren; Bickerdike, Andrew

2018-04-01

Family mediation is mandated in Australia for couples in dispute over separation and parenting as a first step in dispute resolution, except where there is a history of intimate partner violence. However, validation of effective well-differentiated partner violence screening instruments suitable for mediation settings is at an early phase of development. This study contributes to calls for better violence screening instruments in the mediation context to detect a differentiated range of abusive behaviors by examining the reliability and validity of both established scales, and newly developed scales that measured intimate partner violence by partner and by self. The study also aimed to examine relationships between types of abuse, and between gender and types of abuse. A third aim was to examine associations between types of abuse and other relationship indicators such as acrimony and parenting alliance. The data reported here are part of a larger mixed method, naturalistic longitudinal study of clients attending nine family mediation centers in Victoria, Australia. The current analyses on baseline cross-sectional screening data confirmed the reliability of three subscales of the Conflict Tactics Scale (CTS2), and the reliability and validity of three new scales measuring intimidation, controlling and jealous behavior, and financial control. Most clients disclosed a history of at least one type of violence by partner: 95% reported psychological aggression, 72% controlling and jealous behavior, 50% financial control, and 35% physical assault. Higher rates of abuse perpetration were reported by partner versus by self, and gender differences were identified. There were strong associations between certain patterns of psychologically abusive behavior and both acrimony and parenting alliance. The implications for family mediation services and future research are discussed.

Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?

DEFF Research Database (Denmark)

Cameron, F.J.; Skinner, T.C.; Beaufort, C.E. de

2008-01-01

-parent disagreement on responsibility for diabetes care practices (F = 8.46; d.f. = 2; P gender or insulin treatment regimen......Aims To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods Adolescents with Type 1 diabetes aged 11-18 years, from 21 paediatric diabetes care centres, in 19 countries, and their parents were invited to participate...... a questionnaire. Family demographic factors that were associated with metabolic outcomes included: parents living together (t = 4.1; P 2; d.f. = 3; P diabetes care (r = 0.11; P

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.

Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa.

Science.gov (United States)

Fabera, Petr; Krijtova, Hana; Tomasek, Martin; Krysl, David; Zamecnik, Josef; Mohapl, Milan; Jiruska, Premysl; Marusic, Petr

2015-09-01

Focal cortical dysplasia (FCD) represents a common cause of refractory epilepsy. It is considered a sporadic disorder, but its occasional familial occurrence suggests the involvement of genetic mechanisms. Siblings with intractable epilepsy were referred for epilepsy surgery evaluation. Both patients were examined using video-EEG monitoring, MRI examination and PET imaging. They underwent left anteromedial temporal lobe resection. Electroclinical features pointed to left temporal lobe epilepsy and MRI examination revealed typical signs of left-sided hippocampal sclerosis and increased white matter signal intensity in the left temporal pole. PET examination confirmed interictal hypometabolism in the left temporal lobe. Histopathological examination of resected tissue demonstrated the presence FCD type IIIa, i.e. hippocampal sclerosis and focal cortical dysplasia in the left temporal pole. We present a unique case of refractory mesial temporal lobe epilepsy in siblings, characterized by an identical clinical profile and histopathology of FCD type IIIa, who were successfully treated by epilepsy surgery. The presence of such a high concordance between the clinical and morphological data, together with the occurrence of epilepsy and febrile seizures in three generations of the family pedigree points towards a possible genetic nature of the observed FCD type IIIa. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Characteristics of the Danish families with multiple endocrine neoplasia type 1

DEFF Research Database (Denmark)

Jäger, Anne Charlotte; Friis-Hansen, Lennart; Hansen, Thomas v.O.

2006-01-01

Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier...... reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five...... mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were...

A Müntz type theorem for a family of corner cutting schemes

KAUST Repository

Ait-Haddou, Rachid; Sakane, Yusuke; Nomura, Taishin

2013-01-01

Dimension elevation process of Gelfond–Bézier curves generates a family of control polygons obtained through a sequence of corner cuttings. We give a Müntz type condition for the convergence of the generated control polygons to the underlying curve

Work–family conflict based on strain: The most hazardous type of conflict in Iranian hospitals nurses

OpenAIRE

Morteza Charkhabi; Riccardo Sartori; Andrea Ceschi

2016-01-01

Orientation: Work and family conflicts continuously and negatively affect employees’ performance. Previous research has mostly studied the impact of the two distinct dimensions of work–family conflict (WFC) and family–work conflict (FWC) on health outcomes, whereas the impact of more specific dimensions of these two general types of conflict on health outcomes is little known. Therefore, we now need to also measure the impact of more specified types of these conflicts on health outcomes. ...

Diabetes care provider perceptions on family challenges of pediatric type 1 diabetes

Science.gov (United States)

Pediatric healthcare providers' perspectives on barriers to diabetes self-management among youth with type 1 diabetes and strategies to overcome them were explored qualitatively. Family conflict about diabetes care was viewed as a common problem, addressable by behavioral interventions to improve co...

The relationship between family functioning and the crime types in incarcerated children.

Science.gov (United States)

Teker, Kamil; Topçu, Seda; Başkan, Sevgi; Orhon, Filiz Ş; Ulukol, Betül

2017-06-01

We investigated the relationship between the family functioning and crime types in incarcerated children. One hundred eighty two incarcerated children aged between 13-18 years who were confined in child-youth prisons and child correctional facilities were enrolled into this descriptive study. Participants completed demographic questions and the McMaster Family Assessment Device (Epstein, Baldwin, & Bishop, 1983) (FAD) with face to face interviews. The crime types were theft, assault (bodily injury), robbery, sexual assault, drug trafficker and murder. The socio-demographic characteristics were compared by using FAD scale, and growing up in a nuclear family had statistically significant better scores for problem solving and communication subscales and the children whose parents had their own house had significantly better problem solving scores When we compared the crime types of children by using problem solving, communication and general functioning subscales of FAD, we found statistical lower scores in assault (bodily injury) group than in theft, sexual assault, murder groups and in drug trafficker group than in murder group, also we found lower scores in drug trafficker group than in theft group for problem solving and general functioning sub-scales, also there were lower scores in bodily injury assault group than in robbery, theft groups and in drug trafficker than in theft group for problem solving subscale. The communication and problem solving sub-scales of FAD are firstly impaired scales for the incarcerated children. We mention these sub-scales are found with unplanned and less serious crimes and commented those as cry for help of the children.

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

Science.gov (United States)

Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

2015-05-01

Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

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

Science.gov (United States)

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

2017-12-01

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

Family physicians clinical aptitude for the nutritional management of type 2 diabetes mellitus in Guadalajara, Mexico.

Science.gov (United States)

Cabrera Pivaral, C E; Gutiérrez Roman, E A; Gonzalez Pérez, G; Gonzalez Reyes, F; Valadez Toscano, F; Gutiérrez Ruvalcaba, C; Rios Riebeling, C D

2008-02-01

There are 180,000 new Diabetes Mellitus cases in Mexico each year (1). This chronic, complex and multifactor disease requires an adequate nutritional management plan to be prescribed by family physicians. They should be trained to identify the potential difficulties in the patient's dietary schedule and orientate their management from an integrative point of view. The purpose of this study was to detect and measure family physician's clinical aptitudes for the nutritional management of Type 2 diabetes, in a representative family physician's sample from five Family Medicine Units of the Mexican Institute of Social Security in Guadalajara, Jalisco, Mexico. A structured and validated instrument was applied to 117 physicians from a total of 450 in Guadalajara, Jalisco. The main study variable was clinical aptitude for nutritional management of Type 2 diabetes. Aptitude levels were defined by an ordinal scale and related to the other variables using the median, Mann-Whitney's U test and Kruskal Wallis (KW) test. Global results showed a median of 30 points that relates to a low and a very low aptitude level for the 72% of physicians without statistical significance (KW: p>0.05) with the rest of variables. These results reflect family physician's difficulties to orientate the nutritional management of Type 2 diabetes, as well as the lack of work environments that facilitate case reflection and formative educational strategies.

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

Science.gov (United States)

Oki, Ryoko; Yamada, Kisaburo; Nakano, Satoko; Kimoto, Kenichi; Yamamoto, Ken; Kondo, Hiroyuki; Kubota, Toshiaki

2017-02-01

We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia.

Three cases of Waardenburg syndrome type 2 in a Korean family.

Science.gov (United States)

Choi, Joong Hyuk; Moon, Sung-Kyun; Lee, Ki Hwang; Lew, Ho Min; Chang, Yoon-Hee

2004-12-01

Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.

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

Science.gov (United States)

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

2016-12-01

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

Significance of family and peer support for metabolic control of type 1 diabetes in adolescents

Directory of Open Access Journals (Sweden)

Đurović Dušanka

2009-01-01

Full Text Available The aim of the paper was to explore the significance of family and peer support for metabolic control of Type 1 diabetes in adolescents. Metabolic control refers to maintenance of acceptable blood glucose level thus diminishing risk for chronic complications. It involves regular insulin shots, measuring blood glucose and keeping diary, as the daily based self-control. Regular visits to endocrinologist and screening for chronic complications are compulsory. The sample comprised 79 adolescents age 10-17 years with diagnose of Type 1 diabetes and properly treated at the institute. The sample was divided in two groups - with good (N=40 and poor (N=39 metabolic control. A criterium for good metabolic control was glycosilated hemoglobin less than 7,6%. Social support was measured by Social Support Scale consisting of two parts - the first for estimation of registered family support (based upon modified Perceived Social Support Family Scale and the second for estimation of registered friends' support (modified Perceived Social Support Friend Scale. Adolescents with good metabolic control referred statistically more significant social support in the family, unlike the group with poor metabolic control. Considering peer social support, there was no statistically significant difference. Positive family history for diabetes also appeared to be directly linked to good metabolic control.

The association of age, gender, ethnicity, family history, obesity and hypertension with type 2 diabetes mellitus in Trinidad.

Science.gov (United States)

Nayak, B Shivananda; Sobrian, Arianne; Latiff, Khalif; Pope, Danielle; Rampersad, Akash; Lourenço, Kodi; Samuel, Nichole

2014-01-01

To assess the impact of risk factors such as age, gender, ethnicity, family history, body mass index (BMI), waist circumference and hypertension, on the development of type 2 diabetes mellitus in the Trinidadian population. A cross-sectional case control study comprised 146 non-diabetics and 147 type 2 diabetics ≥18 years of age, from North Central, South West and Eastern regions of Trinidad. Cross-tabulations revealed a significant difference between type 2-diabetes and age at pdiabetes and family history, ethnicity, waist circumference and hypertension at pdiabetics and type 2 diabetics being, 130.62 (±2.124) and 141.35 (±2.312), respectively. No significant difference was observed between type 2 diabetes and gender and BMI. Age was the most significant risk factor of type 2 diabetes. Therefore it can be concluded that family history, ethnicity, waist circumference and hypertension are more significant risk factors of this disease than BMI and gender in the Trinidadian population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.

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

Science.gov (United States)

Stewart, Lisa M.

2013-01-01

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

Prevention of Type 2 diabetes after gestational diabetes directed at the family context

DEFF Research Database (Denmark)

Kragelund Nielsen, K; Grunnet, L Groth; Maindal, H Terkildsen

2018-01-01

In this review, we aim to summarize knowledge about gestational diabetes (GDM) after delivery; with special focus on the potential of preventing Type 2 diabetes in a family context. The review expands on the key messages from a symposium held in Copenhagen in May 2017 and highlights avenues...... and implemented in real-world settings. Although interlinked and interacting, barriers to maintaining a healthy lifestyle post-partum can be grouped into those pertaining to diabetes beliefs, the family context and the healthcare system. Health literacy level and perceptions of health and disease risk may modify...

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.

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

Science.gov (United States)

Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E

1998-12-04

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

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

DEFF Research Database (Denmark)

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

2016-01-01

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

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

Science.gov (United States)

Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A

2018-06-01

Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.

Type-II generalized family-wise error rate formulas with application to sample size determination.

Science.gov (United States)

Delorme, Phillipe; de Micheaux, Pierre Lafaye; Liquet, Benoit; Riou, Jérémie

2016-07-20

Multiple endpoints are increasingly used in clinical trials. The significance of some of these clinical trials is established if at least r null hypotheses are rejected among m that are simultaneously tested. The usual approach in multiple hypothesis testing is to control the family-wise error rate, which is defined as the probability that at least one type-I error is made. More recently, the q-generalized family-wise error rate has been introduced to control the probability of making at least q false rejections. For procedures controlling this global type-I error rate, we define a type-II r-generalized family-wise error rate, which is directly related to the r-power defined as the probability of rejecting at least r false null hypotheses. We obtain very general power formulas that can be used to compute the sample size for single-step and step-wise procedures. These are implemented in our R package rPowerSampleSize available on the CRAN, making them directly available to end users. Complexities of the formulas are presented to gain insight into computation time issues. Comparison with Monte Carlo strategy is also presented. We compute sample sizes for two clinical trials involving multiple endpoints: one designed to investigate the effectiveness of a drug against acute heart failure and the other for the immunogenicity of a vaccine strategy against pneumococcus. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

Science.gov (United States)

Zong, Ling; Chen, Kaitian; Wu, Xuan; Liu, Min; Jiang, Hongyan

2016-11-01

Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing. The candidate mutations were confirmed by Sanger sequencing and subsequently analyzed with in silico tools. An unreported splice site mutation c.3924+1G > C compound with c.6028G > A in the MYO7A gene were detected to cosegregate with the phenotype in this pedigree. Both mutations, located in the evolutionarily conserved FERM domain in myosin VIIA, were predicted to be pathogenic. In this family, profound sensorineural hearing impairment and retinitis pigmentosa without vestibular disorder, constituted the typical Usher syndrome type 2. Identification of novel mutation in compound heterozygosity in MYO7A gene revealed the genetic origin of Usher syndrome type 2 in this Han family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Family Therapy

Science.gov (United States)

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

Late-onset Bartter syndrome type II.

Science.gov (United States)

Gollasch, Benjamin; Anistan, Yoland-Marie; Canaan-Kühl, Sima; Gollasch, Maik

2017-10-01

Mutations in the ROMK1 potassium channel gene ( KCNJ1 ) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero , accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c.197T > A (p.I66N) and a previously reported c.875G > A (p.R292Q) KCNJ1 mutation. We implemented and evaluated the performance of two different bioinformatics-based approaches of targeted massively parallel sequencing [next generation sequencing (NGS)] in defining the molecular diagnosis. Our results demonstrate that aBS II may be suspected in patients with a late-onset phenotype. Our experimental approach of NGS-based mutation screening combined with Sanger sequencing proved to be a reliable molecular approach for defining the clinical diagnosis in our patient, and results in important differential diagnostic and therapeutic implications for patients with BS. Our results could have a significant impact on the diagnosis and methodological approaches of genetic testing in other patients with clinical unclassified phenotypes of nephrocalcinosis and congenital renal electrolyte abnormalities.

Family history of type 2 diabetes and prevalence of metabolic syndrome in adult Asian Indians.

Science.gov (United States)

Das, Mithun; Pal, Susil; Ghosh, Arnab

2012-04-01

Our objective was to test the association between familial risk of type 2 diabetes mellitus (T2DM) and the prevalence of metabolic syndrome (MS) in adult Asian Indians. A total of 448 adult (>30 years) individuals (257 males and 191 females) participated in the study. Familial risk of T2DM was classified into three groups viz., 1=both parents affected; 2=parent and/or siblings affected and 3=none or no family history for T2DM. Anthropometric measures, blood pressures, fasting blood glucose and metabolic profiles were studied using standard techniques. MS was defined accordingly. The prevalence of MS phenotypes was estimated and compared among the three familial risk strata. Individuals with a history of both parents affected from diabetes had significantly higher (Pfamily history of T2DM. Significant difference was also noticed between individuals with and without MS according to the family history of diabetes (Pfamily history of T2DM. Family history of T2DM had significant effect on individuals with MS as compared to their counterparts (individuals having no family history of T2DM). It therefore seems reasonable to argue that family history of T2DM could be useful as a predictive tool for early diagnosis and prevention of MS in Asian Indian population.

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

Science.gov (United States)

Sólia-Nasser, L; de Aquino, S-N; Paranaíba, L-M R; Gomes, A; Dos-Santos-Neto, P; Coletta, R-D; Cardoso, A-F; Frota, A-C; Martelli-Júnior, H

2016-05-01

The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1.

The impact of migration on family solidarity types

NARCIS (Netherlands)

Baykara-Krumme, H.; Fokkema, T.

2017-01-01

This paper aims to expand knowledge on the effects of international migration on parent-adult child relationships. We develop a typology of families, include non-migrant families in the country of origin for comparison, and consider transnational families. Analyses are based on the Turkish 2000

Relationship between parenting style, family type, personality ...

African Journals Online (AJOL)

208 females) from single parent, monogamous and polygamous families responded ... It was hypothesized that: there would be significant and positive correlations ... self esteem, need for achievement, locus of control, sense of competence and ... that young people from families where authoritative parenting was practiced ...

A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients.

Science.gov (United States)

Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee

2017-09-15

The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were "type 2 diabetes," "self-management," "diabetes self-management education (DSME)," "family support," "social support," and "uncontrolled glycaemia." Joanna Briggs Institute (JBI) guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care.

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

Science.gov (United States)

Astuto, L M; Weston, M D; Carney, C A; Hoover, D M; Cremers, C W; Wagenaar, M; Moller, C; Smith, R J; Pieke-Dahl, S; Greenberg, J; Ramesar, R; Jacobson, S G; Ayuso, C; Heckenlively, J R; Tamayo, M; Gorin, M B; Reardon, W; Kimberling, W J

2000-12-01

Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.

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

Spinocerebellar ataxia type 7: Report of an Indian family

Directory of Open Access Journals (Sweden)

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.

Competitiveness of Family Businesses

NARCIS (Netherlands)

M.A.A.M. Leenders (Mark); E. Waarts (Eric)

2001-01-01

textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3)

Types of strain among family members of individuals with autism spectrum disorder across the lifespan.

Science.gov (United States)

Shivers, Carolyn M; Krizova, Katarina; Lee, Gloria K

2017-09-01

Although increased caregiver strain is often found among family caregivers of individuals with autism spectrum disorder, it is still unclear as to how different types of strain relate to amount and types of caregiving across the lifespan. The present study examined different types of strain (i.e. subjective internalized strain, subjective externalized strain, and objective strain) and how such strain relates to the amount of caregiving responsibilities. Data was collected via online survey from a sample of 193 family caregivers of individuals with ASD from the United States, Canada, and the Republic of Ireland. Participants completed measures of strain and caregiving responsibilities, as well as coping, demographics, and services needed and received by the individual with ASD. Caregivers reported higher levels of objective strain than subjective, and caregiving responsibility was related to objective and subjective internalized strain. Coping style was strongly correlated with all types of strain, and unmet service needs were significantly related to objective and subjective internalized strain. Caregiving behaviors were only related to objective strain. The present results indicate that, although caregiving responsibility is related to objective and subjective internalized strain, the relationship is perhaps not as strong as the relationship between coping mechanisms and strain. Future research is needed to understand different types of strain and develop strategies to help caregivers. Copyright © 2017 Elsevier Ltd. All rights reserved.

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Science.gov (United States)

Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

2014-06-01

Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

A Müntz type theorem for a family of corner cutting schemes

KAUST Repository

Ait-Haddou, Rachid

2013-02-01

Dimension elevation process of Gelfond–Bézier curves generates a family of control polygons obtained through a sequence of corner cuttings. We give a Müntz type condition for the convergence of the generated control polygons to the underlying curve. The surprising emergence of the Müntz condition in the problem raises the question of a possible connection between the density questions of nested Chebyshev spaces and the convergence of the corresponding dimension elevation algorithms.

Educating families from ethnic minorities in type 1 diabetes-experiences from a Danish intervention study

DEFF Research Database (Denmark)

Povlsen, Lene; Olsen, Birthe; Ladelund, Steen

2004-01-01

focusing on immigrant families with children with type 1 diabetes is described. The intervention included the development of adapted educational material and guidelines, and a subsequent re-education of children, adolescents and parents from 37 families. The study demonstrated that it was possible......Ethnic minorities may constitute vulnerable groups within Western health care systems as their ability to master severe chronic diseases could be affected by barriers such as different culture and health/illness beliefs, communication problems and limited educational background. An intervention...... to improve health outcome. During the study, the knowledge of diabetes increased, but with considerable differences between the families. HbA(1c) also decreased significantly during the intervention, but increased during follow-up. The paper discusses possible explanations and suggestions for optimising...

A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients

Directory of Open Access Journals (Sweden)

Rian Adi Pamungkas

2017-09-01

Full Text Available The rate of type-2 diabetes mellitus (T2D is dramatically increasing worldwide. Continuing diabetes mellitus (DM care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were “type 2 diabetes,” “self-management,” “diabetes self-management education (DSME,” “family support,” “social support,” and “uncontrolled glycaemia.” Joanna Briggs Institute (JBI guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care.

Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement.

LENUS (Irish Health Repository)

McLaughlin, Patrick D

2012-11-01

OBJECTIVE: Familial partial lipodystrophy type 2 (Online Mendelian Inheritance in Man no. 151660) is a systemic disorder characterized by regional lipoatrophy and lipohypertrophy, severe insulin resistance, and early cardiovascular death. At initial presentation, whole-body MRI allows the radiologist to accurately characterize patients with familial partial lipodystrophy and helps differentiate familial partial lipodystrophy from many other subtypes of lipodystophy. We present the findings of serial quantitative MRI analysis in two patients with familial partial lipodystrophy type 2 and outline the objective imaging changes that occur during medical therapy with oral rosiglitazone. CONCLUSION: Cervical adipose volume and visceral adipose area increased by 105% and 60% in the two patients and hepatic fat fraction decreased by 55% during a 21-month period of medical therapy. These changes coincided with a decrease in biochemical indexes of insulin resistance. Whole body quantitative MRI may therefore help to demonstrate the subclinical changes in fat deposition that occur as a result of novel treatment of familial partial lipodystrophy and with continued research may play a role in guiding the choice, duration, and intensity of novel medical therapy.

Young Children's Sibling Relationship Interactional Types: Associations with Family Characteristics, Parenting, and Child Characteristics

Science.gov (United States)

Gamble, Wendy C.; Yu, Jeong Jin

2014-01-01

Research Findings: This study examines patterns of sibling relationship qualities or interactional types and their association with family characteristics, parenting, and the characteristics of 1 of those children. Participants were 65 children (34 boys; Time 1 mean age = 51 months), their mothers, fathers, and Head Start teachers. Approximately…

A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.

Science.gov (United States)

Xiao, Yun; Luo, Jianfen; Zhang, Fengguo; Li, Jianfeng; Han, Yuechen; Zhang, Daogong; Wang, Mingming; Ma, Yalin; Xu, Lei; Bai, Xiaohui; Wang, Haibo

2016-01-01

The novel compound heterozygous mutation in PAX3 was the key genetic reason for WS1 in this family, which was useful to the molecular diagnosis of WS1. Screening the pathogenic mutations in a four generation Chinese family with Waardenburg syndrome type I (WS1). WS1 was diagnosed in a 4-year-old boy according to the Waardenburg syndrome Consortium criteria. The detailed family history revealed four affected members in the family. Routine clinical, audiological examination, and ophthalmologic evaluation were performed on four affected and 10 healthy members in this family. The genetic analysis was conducted, including the targeted next-generation sequencing of 127 known deafness genes combined with Sanger sequencing, TA clone and bioinformatic analysis. A novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) was identified in PAX3, which was co-segregated with WS1 in the Chinese family. This mutation was absent in the unaffected family members and 200 ethnicity-matched controls. The phylogenetic analysis and three-dimensional (3D) modeling of Pax3 protein further confirmed that the novel compound heterozygous mutation was pathogenic.

Familial Colorectal Cancer Type X

DEFF Research Database (Denmark)

Zetner, Diana Bregner; Bisgaard, Marie Luise

2017-01-01

The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular ge...

Health information sources for different types of information used by Chinese patients with cancer and their family caregivers.

Science.gov (United States)

Xie, Bo; Su, Zhaohui; Liu, Yihao; Wang, Mo; Zhang, Ming

2017-08-01

Little is known about the information sources of Chinese patients with cancer and their family caregivers, yet this knowledge is critical for providing patient-centred care. To assess and compare the information sources used by Chinese patients with cancer and their family caregivers. The validated Health Information Wants Questionnaire (HIWQ) was translated and administered in March 2014. The oncology department of a general hospital in south-west China. A convenience sample of 198 individuals, including 79 patients with cancer (mean age=55.24, SD=13.80) and 119 family caregivers (mean age=46.83, SD=14.61). Ratings on the HIWQ items assessing information sources for different types of information. The interaction between information source and group was significant (F 3,576 =6.32, Pinformation than patients from the Internet. Caregivers and patients did not differ in the amount of information they obtained from doctors/nurses, interpersonal contacts or mass media. The interaction between information type and information source was significant (F 18,3456 =6.38, Pinformation of all types from doctors/nurses than from the other three sources and obtained more information from interpersonal contacts than from mass media or the Internet. The information sources of Chinese patients with cancer and their family caregivers were similar, with an important difference that caregivers obtained more online information than patients. These findings have important implications for patient care and education in China where the family typically plays a major role in the care and decision making. © 2016 The Authors. Health Expectations Published by John Wiley & Sons Ltd.

[Association between type 2 diabetes and physical activity in individuals with family history of diabetes].

Science.gov (United States)

Petermann, Fanny; Díaz-Martínez, Ximena; Garrido-Méndez, Álex; Leiva, Ana María; Martínez, María Adela; Salas, Carlos; Poblete-Valderrama, Felipe; Celis-Morales, Carlos

To investigate whether the association between type 2 diabetes (T2D) and family history of diabetes is modified by the levels of physical activity in the Chilean population. In this study were included 5129 participants from the cross-sectional 2009-2010 National Health Survey. Physical activity level was assessed using the Global Physical Activity Questionnaire and family history of T2D, through self-reporting. The association between diabetes, family history of diabetes and physical activity was determined using logistic regression. The odds of developing T2D in people with family history of this pathology is high, independent of their levels of physical activity and adiposity. Both men and women with family history of T2D have a higher probability of developing T2D. The odds ratio for having T2D was 5,49 (95%CI: 3,85-7,84; p <0,0001) in women, and 8,16 (95%CI: 4,96-13,4; p <0,0001) in men with family history of T2D and low levels of physical activity in comparison to those with high levels of physical activity and without a family history. Given the elevated risk of developing T2D presented by individuals with a family history of this pathology, and the effect of physical activity in reducing such risk, people with family history of diabetes may need higher levels of physical activity to attenuate their susceptibility to T2D. Copyright © 2017 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

Effects of diabetes-related family stress on glycemic control in young patients with type 1 diabetes: Systematic review.

Science.gov (United States)

Tsiouli, Elina; Alexopoulos, Evangelos C; Stefanaki, Charikleia; Darviri, Christina; Chrousos, George P

2013-02-01

To investigate the way that family stress influences glycemic control among patients with diabetes who are younger than 18 years of age. PubMed and Scopus were searched for relevant studies published since 1990 using the following key words: diabetes type 1, glycemic control, family stress, family conflict, and family function. In total, 1478 papers were identified in the initial search. The final review included 6 cohort studies, 3 cross-sectional studies, and 1 qualitative review in which family stress was assessed using specific diabetes-related conflict measurement instruments, and glycemic control was evaluated by glycosylated hemoglobin measurement. In most studies family stress was negatively correlated with patients' glycemic control. Family function was strongly related to patients' glycemic control, while family conflict was adversely associated with glycemic control. Families of low socioeconomic status, those of adolescents with diabetes, and those of single parents were more prone to diabetes-related stress and thus more susceptible to worse glycemic control. Therapeutic psychological interventions and educational programs can help alleviate family diabetes-related stress and will likely improve glycemic control.

A Comparison of Types of Support for Lower-Skill Workers: Evidence for the Importance of Family Supportive Supervisors

Science.gov (United States)

Muse, Lori A.; Pichler, Shaun

2011-01-01

The work-family literature to date does not offer a clear picture in terms of the relative importance of different types of supports for balancing work and family demands. Grounded in conservation or resources theory, we develop an integrative model relating multiple forms of social support, both formal (i.e., work-life benefit use) and informal…

The family and family structure classification redefined for the current times

Directory of Open Access Journals (Sweden)

Rahul Sharma

2013-01-01

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

Impact of Relationship Status and Quality (Family Type) on the Mental Health of Mothers and Their Children: A 10-Year Longitudinal Study.

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Hannighofer, Jasmin; Foran, Heather; Hahlweg, Kurt; Zimmermann, Tanja

2017-01-01

Mothers and children of single or unstable relationships have higher rates of mental health problems than those in stable two-parent families. Despite results that mothers and children of conflictual two-parent families also show impairments, most studies do not consider relationship quality. Therefore, the present study combines relationship status and relationship quality to a "family type." The present study compares German mothers and children of two-parent families with high relationship quality to those from two-parent families with a low quality, single mothers, and unstable families. Data of n  = 249 families from a 10-year follow-up longitudinal study show that mothers with a high relationship quality show the highest levels of mental health whereas all other groups show at least a 3.2 times higher probability of mental health symptoms. Children of mothers in unstable relationships show a 8.2 times higher probability to emotional or behavioral problems than children of mothers with high relationship quality. Therefore, not only relationship status but also relationship quality should be combined and this "family type" should be considered in future research.

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.

Prospective validation of an automated chemiluminescence-based assay of renin and aldosterone for the work-up of arterial hypertension.

Science.gov (United States)

Rossi, Gian Paolo; Ceolotto, Giulio; Rossitto, Giacomo; Seccia, Teresa Maria; Maiolino, Giuseppe; Berton, Chiara; Basso, Daniela; Plebani, Mario

2016-09-01

The availability of simple and accurate assays of plasma active renin (DRC) and aldosterone concentration (PAC) can improve the detection of secondary forms of arterial hypertension. Thus, we investigated the performance of an automated chemiluminescent assay for DRC and PAC in referred hypertensive patients. We prospectively recruited 260 consecutive hypertensive patients referred to an ESH Center for Hypertension. After exclusion of six protocol violations, 254 patients were analyzed: 67.3% had primary hypertension, 17.3% an aldosterone producing adenoma (APA), 11.4% idiopathic hyperaldosteronism (IHA), 2.4% renovascular hypertension (RVH), 0.8% familial hyperaldosteronism type 1 (FH-1), 0.4% apparent mineralocorticoid excess (AME), 0.4% a renin-producing tumor, and 3.9% were adrenalectomized APA patients. Bland-Altman plots and Deming regression were used to analyze results. The diagnostic accuracy (area under the curve, AUC of the ROC) of the DRC-based aldosterone-renin ratio (ARRCL) was compared with that of the PRA-based ARR (ARRRIA) using as reference the conclusive diagnosis of APA. At Bland-Altman plot, the DRC and PAC assay showed no bias as compared to the PRA and PAC assay. A tight relation was found between the DRC and the PRA values (concordance correlation coefficient=0.92, pAPA identification the AUC of the ARRCL was higher than that of the ARRRIA [0.974 (95% CI 0.940-0.991) vs. 0.894 (95% CI 0.841-0.933), p=0.02]. This rapid automated chemiluminescent DRC/PAC assay performed better than validated PRA/PAC radioimmunoassays for the identification of APA in referred hypertensive patients.

Disentangling the roles of parental monitoring and family conflict in adolescents' management of type 1 diabetes.

Science.gov (United States)

Hilliard, Marisa E; Holmes, Clarissa S; Chen, Rusan; Maher, Kathryn; Robinson, Elizabeth; Streisand, Randi

2013-04-01

Less parental monitoring of adolescents' diabetes self-care and more family conflict are each associated with poorer diabetes outcomes. However, little is known about how these two family factors relate with one another in the context of self-care and glycemic control. Diabetes self-care was evaluated as a mediator of the associations among parental monitoring, family conflict, and glycemic control in early adolescents with type 1 diabetes. Adolescent-parent dyads (n = 257) reported on the frequency of parental monitoring, family conflict, and diabetes self-care. Hemoglobin A1c was abstracted from medical charts. Structural equation modeling was used for mediation analysis. A mediation model linking parental involvement and family conflict with A1c through diabetes self-care fit the data well. Monitoring and conflict were inversely correlated (β = -0.23, p Conflict also was positively associated with higher A1c (β = 0.31, p conflict and less parental monitoring are risk factors for poorer glycemic control, and diabetes self-care is one mediator linking these variables. Interventions to promote parental monitoring of diabetes management during early adolescence may benefit from emphasizing strategies to prevent or reduce family conflict. 2013 APA, all rights reserved

Randomized trial of a diabetes self-management education and family teamwork intervention in adolescents with Type1 diabetes

DEFF Research Database (Denmark)

Murphy, H. R.; Wadham, C.; Hassler-Hurst, J.

2012-01-01

Aims To evaluate the effectiveness of a family-centred group education programme, in adolescents with Type1 diabetes. Methods Three hundred and five adolescents with Type1 diabetes; age 13.1±1.9years, diabetes duration 5.6±3.3years, BMI 20.9±3.7kg/m 2, HbA 1c 78±6mmol/mol (9.3±1.9%) were randomly...... attendance of group education sessions delivered in routine clinics was a major challenge. More personalized educational approaches may be required to support and motivate families who are struggling to integrate the demands of intensive insulin regimens into their daily lives....

A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients

OpenAIRE

Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee

2017-01-01

The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose moni...

Differences in psychological health and family dysfunction by sexual victimization type in a clinical sample of African American adolescent women.

Science.gov (United States)

Cecil, Heather; Matson, Steven C

2005-08-01

We examined levels of sexual victimization among a sample of 249 14- to 19-year-old African American adolescent women. Victimization was common: 32.1% reported having been raped, 33.7% had experienced sexual coercion, and 10.8% reported an attempted rape. Only 23.4% had never been victimized. We investigated whether levels of psychological health and family dysfunction varied as a function of the type of sexual victimization. Girls who had been raped had lower levels of self-esteem and mastery and higher levels of depression compared to girls who reported no sexual victimization. Significantly higher levels of family cohesion and significantly lower levels of family support were reported by girls who had been raped versus girls who reported no sexual victimization. These findings are a starting point for future studies by providing evidence that levels of mental health and family dysfunction vary by the type of sexual victimization experienced.

Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

Science.gov (United States)

Hermanns-Lê, Trinh; Reginster, Marie-Annick; Piérard-Franchimont, Claudine; Delvenne, Philippe; Piérard, Gérald E.; Manicourt, Daniel

2012-01-01

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH. PMID:23091361

Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

Directory of Open Access Journals (Sweden)

Trinh Hermanns-Lê

2012-01-01

Full Text Available The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH and the benign joint hypermobility syndrome (BJHS is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

Types of Family Caregiving and Daily Experiences in Midlife and Late Adulthood: The Moderating Influences of Marital Status and Age.

Science.gov (United States)

Wong, Jen D; Shobo, Yetunde

2017-07-01

Guided by the life-course perspective, this study contributes to the family caregiving, aging, and disability literature by examining the daily experiences of three types of family caregivers in midlife and late adulthood. A sample of 162 caregivers from the National Survey of Midlife in the United States study completed interviews, questionnaires, and a Daily Diary Study. Multilevel models showed the patterns of daily time use did not differ by caregiver types. Caregivers of sons/daughters with developmental disabilities (DD) experienced more daily stressors than caregivers of parents with health conditions (HC) and caregivers of spouses with HC. Unmarried caregivers of sons/daughters with DD reported spending more time on daily leisure activities and exhibited greater daily stressor exposure than other family caregivers. Age did not moderate the associations between caregiver types and daily experiences. Findings highlight the important consideration of the caregivers' characteristics to better determine the quality of their daily experiences in midlife and late adulthood.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

Science.gov (United States)

Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

Familial disseminated plaque type porokeratosis with multiple horns and squamous cell carcinoma involving anal skin

Directory of Open Access Journals (Sweden)

Sarma Nilendu

2009-01-01

Full Text Available Porokeratosis is a disorder of keratinization showing a well-defined lesion with a hyperkeratotic ridge on the border that contains the coronoid lamella. We report familial (autosomal dominant with reduced penetrance disseminated plaque type (Mibelli′s type porokeratosis in a father and son. In the father, there were multiple horns and a large squamous cell carcinoma in a large lesion over the perianal region that reached up to the squamo-columnar junction of the anal mucosa and even invaded the anal sphincteric muscles. Disseminated lesions of the Mibelli′s type, development of horns, and malignancy in this unusual location have not been previously reported.

Familial gigantism

NARCIS (Netherlands)

W.W. de Herder (Wouter)

2012-01-01

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

Tissue-type plasminogen activator-binding RNA aptamers inhibiting low-density lipoprotein receptor family-mediated internalisation.

Science.gov (United States)

Bjerregaard, Nils; Bøtkjær, Kenneth A; Helsen, Nicky; Andreasen, Peter A; Dupont, Daniel M

2015-07-01

Recombinant tissue-type plasminogen activator (tPA, trade name Alteplase), currently the only drug approved by the US Food and Drug Administration and the European Medicines Agency for the treatment of cerebral ischaemic stroke, has been implicated in a number of adverse effects reportedly mediated by interactions with the low-density lipoprotein (LDL) family receptors, including neuronal cell death and an increased risk of cerebral haemorrhage. The tissue-type plasminogen activator is the principal initiator of thrombolysis in human physiology, an effect that is mediated directly via localised activation of the plasmin zymogen plasminogen at the surface of fibrin clots in the vascular lumen. Here, we sought to identify a ligand to tPA capable of inhibiting the relevant LDL family receptors without interfering with the fibrinolytic activity of tPA. Systematic evolution of ligands by exponential enrichment (SELEX) was employed to isolate tPA-binding RNA aptamers, which were characterised in biochemical assays of tPA association to low density lipoprotein receptor-related protein-1 (LRP-1, an LDL receptor family member); tPA-mediated in vitro and ex vivo clot lysis; and tPA-mediated plasminogen activation in the absence and presence of a stimulating soluble fibrin fragment. Two aptamers, K18 and K32, had minimal effects on clot lysis, but were able to efficiently inhibit tPA-LRP-1 association and LDL receptor family-mediated endocytosis in human vascular endothelial cells and astrocytes. These observations suggest that coadministration alongside tPA may be a viable strategy to improve the safety of thrombolytic treatment of cerebral ischaemic stroke by restricting tPA activity to the vascular lumen.

A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.

Science.gov (United States)

Wang, C; Kim, E; Attaie, A; Smith, T N; Wilcox, E R; Lalwani, A K

1998-02-01

Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2. Copyright 1998 Academic Press Limited

Type 2 diabetes family histories, body composition and fasting glucose levels: a cross-section analysis in healthy sedentary male and female.

Science.gov (United States)

Bianco, Antonino; Pomara, Francesco; Thomas, Ewan; Paoli, Antonio; Battaglia, Giuseppe; Petrucci, Marco; Proia, Patrizia; Bellafiore, Marianna; Palma, Antonio

2013-01-01

Diabetes type 2 is a world wide spread disease with a multifactorial pathogenetic evolution. Various factors like obesity, physical inactivity and poor lifestyle habits contribute to its development. The aim of this study was to verify if in young healthy sedentary male and female there is positive correlation between family history to type 2 diabetes and an increase in body weight and fat mass, or alterations in basal glycemia values. Totally183 male and 237 female healthy sedentary subjects were analysed in 2012, in Italy. They were divided in three groups: FH(+) with first degree family history, FH(++) with second degree family history and FH(-) with no family history. Anthropometrics, body composition and blood parameters were assessed. Male had the highest BMI values (Plife-style changes, such as increased physical activity and controlled quantity and quality of food intake.

Associations between Familial Factor, Trait Conscientiousness, Gender and the Occurrence of Type 2 Diabetes in Adulthood: Evidence from a British Cohort.

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Helen Cheng

Full Text Available To investigate social, familial, and psychological factors in influencing the occurrence of type 2 diabetes in adulthood.Some 17,415 babies born in Great Britain in 1958 and followed up at 7, 11, 33, and 50 years of age. The prevalence of type 2 diabetes at age 50 years was the outcome measure.Some 5,032 participants with data on parental social class, childhood cognitive ability tests scores at age 11 years, educational qualifications at age 33 years, personality traits, occupational levels, and type 2 diabetes (all measured at age 50 years were included in the study. Available information also included whether cohort members' parents or siblings had diabetes. Using logistic regression analyses, results showed that sex (OR=0.63: 0.42-0.92, p<.05, family history (OR=3.40: 1.76-6.55, p<.01, and trait conscientiousness (OR=0.76: 0.64-0.90, p<.001 were all significantly and independently associated with the occurrence of type 2 diabetes in adulthood. It appears that the occurrence of type 2 diabetes is greater among men than women (4.3% vs 2.5%.Familial (genetic and non-genetic and psychological factors are significantly associated with the prevalence of type 2 diabetes in adulthood.

Familial gigantism

Directory of Open Access Journals (Sweden)

Wouter W. de Herder

2012-01-01

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

Identification of a SIRT1 mutation in a family with type 1 diabetes

DEFF Research Database (Denmark)

Biason-Lauber, Anna; Böni-Schnetzler, Marianne; Hubbard, Basil P

2013-01-01

Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members...... developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative colitis. Initially, a 26-year-old man was diagnosed with the typical features of type 1 diabetes, including lean body mass, autoantibodies, T cell reactivity to β cell antigens, and a rapid dependence on insulin....... Direct and exome sequencing identified the presence of a T-to-C exchange in exon 1 of SIRT1, corresponding to a leucine-to-proline mutation at residue 107. Expression of SIRT1-L107P in insulin-producing cells resulted in overproduction of nitric oxide, cytokines, and chemokines. These observations...

Cerebrotendinous xanthomatosis in a Saudi Arabian family geno typing and long-term follow-up

International Nuclear Information System (INIS)

Price Evans, David A.; Mobrad, M.A.; Salah, Kawther A.; Olin, M.; Eggertsen, G.; Mitchell, William D.

2007-01-01

A Saudi Arabian family is described in which there 2siblings with typical features of cerebral xanthomatosis (CTX) including premature cataracts, xanthomata of the Achilles tendons, neuro-psychiatric disturbances and atherosclerosis. The two patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene (CYP27A1, OMIM 606530) located in the splice site of intron 6, where G exchanged for A (IVS6+1G>A). There parents were cousins, 5 siblings were healthy, 2 were heterozyguous for the mutation and one showed the wild-type genotype. The father was heterozyguous for the mutation, while the other family members were not tested. The progress of 2 CTX patients over 14 years is described; firstly when they were receiving treatment with chenodeoxycholic acid; when this medication was not available and then later when it was restored. A hereditary hyperlipidemia was also present in this family. It is suggested that when this occurs with CTX, a more seriuos illness results that merits more aggressive dual therapy. (author)

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

Science.gov (United States)

Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L

1998-08-01

We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

OpenAIRE

Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L

1998-01-01

We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

EIF4A2 is a positional candidate gene at the 3q27 locus linked to type 2 diabetes in French families

DEFF Research Database (Denmark)

Cheyssac, Claire; Dina, Christian; Leprêtre, Frédéric

2006-01-01

.01 at D3S3686, P = 0.0001) was identified in a set of French families. To assess genetic variation underlying both age-of-onset QTL and our previous type 2 diabetes linkage in a 3.87-Mb interval, we explored 36 single nucleotide polymorphisms (SNPs) in two biologically relevant candidate genes for glucose...... homeostasis, kininogen (KNG1), and eukaryotic translation initiation factor 4alpha2 (EIF4A2). Analysis of 148 families showed significant association of a frequent SNP, rs266714, located 2.47 kb upstream of EIF4A2, with familial type 2 diabetes (family-based association test, P = 0.0008) and early age......RNA translation and protein synthesis rate in pancreatic beta-cells, and our data indicates that EIF4A2 is downregulated by high glucose in rat beta-INS832/13 cells. The potential role of EIF4A2 in glucose homeostasis and its putative contribution to type 2 diabetes in the presence of metabolic stress...

Multi-time Lagrangian 1-forms for families of Bäcklund transformations. Relativistic Toda-type systems

International Nuclear Information System (INIS)

Boll, Raphael; Petrera, Matteo; Suris, Yuri B

2015-01-01

We establish the pluri-Lagrangian structure for families of Bäcklund transformations of relativistic Toda-type systems. The key idea is a novel embedding of these discrete-time (one-dimensional) systems into certain two-dimensional (2D) pluri-Lagrangian lattice systems. This embedding allows us to identify the corner equations (which are the main building blocks of the multi-time Euler–Lagrange equations) with local superposition formulae for Bäcklund transformations. These superposition formulae, in turn, are key ingredients necessary to understand and to prove commutativity of the multi-valued Bäcklund transformations. Furthermore, we discover a 2D generalization of the spectrality property known for families of Bäcklund transformations. This result produces a family of local conservations laws for 2D pluri-Lagrangian lattice systems, with densities being derivatives of the discrete 2-form with respect to the Bäcklund (spectral) parameter. Thus, a relation of the pluri-Lagrangian structure with more traditional integrability notions is established. (paper)

Current Practice in Meeting Child Health Needs in Family Support Services: Variation by Service Type and Perspectives on Future Developments

Science.gov (United States)

Gabhainn, Saoirse Nic; Dolan, Pat; Canavan, John; O'Higgins, Siobhan

2009-01-01

The needs of all service users include those related to physical, emotional, sexual and mental health. This article documents where child health needs are recognised and being met within family support services in the west of Ireland, investigates whether there is variation across different types of family support services and presents the views…

45 CFR 286.55 - What types of costs are subject to the administrative cost limit on Tribal Family Assistance...

Science.gov (United States)

2010-10-01

... 45 Public Welfare 2 2010-10-01 2010-10-01 false What types of costs are subject to the... § 286.55 What types of costs are subject to the administrative cost limit on Tribal Family Assistance... tracking, data entry and monitoring, including personnel and other costs associated with the automation...

Family types and intimate-partner violence: A historical perspective

OpenAIRE

Ana Tur-Prats

2015-01-01

This paper examines the historical origins of violence against women, in contrast to earlier literature, which focused only on short-term determinants. It analyses the relationship between traditional family patterns (stem versus nuclear) and intimate-partner violence (IPV). Stem families are those in which one child stays in the parental household with spouse and children, so that at least two generations live together. I model the behavior of a traditional peasant family and show how coresi...

HLA non-class II genes may confer type I diabetes susceptibility in a Mapuche (Amerindian) affected family.

Science.gov (United States)

Pérez-Bravo, Francisco; Martinez-Laso, Jorge; Martin-Villa, Jose M; Moscoso, Juan; Moreno, Almudena; Serrano-Vela, Juan I; Zamora, Jorge; Asenjo, Silvia; Gleisner, Andrea; Arnaiz-Villena, Antonio

2006-01-01

A rare case of type I diabetes is studied in an Amerindian (Mapuche) family from Chile, analyzing glutamic acid decarboxylase, islet-cell autoantibodies and human leukocyte antigen (HLA) genes. The affected sib is the only one that has one specific HLA haplotype combination that differs from the other sibs only in the HLA class I genes. It is concluded that HLA diabetes susceptibility factors may be placed outside the class II region or even that susceptibility factors do not exist in the HLA region in this Amerindian family.

Parenting Practices and Child Adjustment in Different Types of Households: A Study of African American Families

Science.gov (United States)

Simons, Leslie Gordon; Chen, Yi-Fu; Simons, Ronald L.; Brody, Gene; Cutrona, Carolyn

2006-01-01

This article uses a sample of 867 African American households to investigate differences in parenting practices and child outcomes by type of household. Results indicate that mothers provide similar levels of parenting regardless of family structure. Secondary caregivers, however, show a great deal of variation in quality of parenting. Fathers and…

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

Science.gov (United States)

2014-01-01

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

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

Science.gov (United States)

Cleak, Helen; Schofield, Margot; Bickerdike, Andrew

2014-01-21

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

SELF - EFFICACY, PSYCHOLOGICAL STRESS, FAMILY SUPPORT, AND EATING BEHAVIOR ON TYPE 2 DIABETES MELLITUS

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Kusuma Wijaya Ridi Putra

2016-02-01

Full Text Available Background: Diabetes mellitus (DM is one of the leading causes of death and it is caused by genetics, nutrition, and unhealthy behaviors. Therefore, changes in lifestyle associated with eating behaviors in diabetes mellitus patients greatly impact on their quality of life. There are many factors related with changes in lifestyle of diabetes mellitus patients, especially eating behaviors. Purpose: This study aims to examine the relationships between self-efficacy, psychological stress, family support, and eating behaviors among type 2 diabetes mellitus (T2DM patients in Sidoarjo, Indonesia. Method: A total of 117 T2DM patients from the Sidoarjo Community Health Center were included in the analysis. Using SPSS IBM 21.0 program, Pearson product moment correlation was performed to analyze data. Results: The findings showed that self-efficacy and family support had positive relationship with eating behaviors (r = .692, p < .001; r = .683, p < .001, respectively. Psychological stress had negative relationship with eating behaviors (r = -.327, p < .001. Conclusion: Self-efficacy, family support, and psychological stress had relationship with eating behaviors. Nurses should pay attention to the factors to make T2DM patients into a long-term commitment toward healthy eating behaviors.

Self-Esteem of Rural Teens: Results for Three Family Types.

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Hall, Anita M.; Rowe, George P.

1991-01-01

A total of 108 (of 200) adolescents completed the Coopersmith Self-Esteem Inventory and family characteristics questionnaire. Results showed that it is not the structure of the family but the degree of discord within the family that influences self-esteem. (Author/JOW)

Effects of gender, age, family support, and treatment on perceived stress and coping of patients with type 2 diabetes mellitus.

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Hara, Yoriko; Hisatomi, Mizuho; Ito, Hisao; Nakao, Motoyuki; Tsuboi, Koji; Ishihara, Yoko

2014-01-01

We previously found that the empowerment of patients with type 2 diabetes mellitus can be strongly affected by gender and age in addition to self-managed diet and exercise behaviors and treatment. This study was to examine the effects of gender, age, family support, and treatment on the perceived stress and coping of patients with type 2 diabetes mellitus living with family. A survey was conducted of 140 adults with type 2 diabetes mellitus who were living with family. There was no significant difference in hemoglobin A1c (HbA1c) between male and female. Perceived stress and coping were measured with the Japanese version of the Appraisal of Diabetes Scale and the Lazarus Type Stress Coping Inventory. Stepwise regression analysis and path analysis were performed to identify factors that affect the perceived stress and coping of patients. (1) Perceived stress and coping were strongly affected by gender. (2) Perceived stress and coping were affected by age for males, but perceived stress was not affected by age for females. However, females showed a greater "psychological impact of diabetes" than did males. Females aged between 50 and 69 years engaged in active problem solving, but awareness of diabetes was low. (3) Treatment regimens had an effect on HbA1c for both sexes, and diet therapy affected the awareness of diabetes of males and coping of females. (4) For females, "sense of self-control" was strongly associated with coping, and those who were living with non-spouse family members had a greater psychological impact of diabetes than those living with only their spouse. (5) For males, coping was strongly affected by living with their spouse. The results suggest that perceived stress, coping, and diet regimen are deeply associated with gender and age and that a male with type 2 diabetes mellitus living with his spouse is strongly dependent on support from the spouse. It is important to take into account gender, age, and family environment to provide patients with

Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

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Bøttger, Pernille; Pedersen, Simon Glerup; Gesslein, Bodil

2016-01-01

Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...

New views for sustainable production in family agriculture: Assessment of American lettuce cultivated with different types of organic fertilizers

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Renan Borro Celestrino

2017-07-01

Full Text Available The general objective of this work was to evaluate the response of the American Lettuce to its development, using different types of organic fertilizers. Specifically, the objective was to outline the potential market for this type of food with agroecological production, with emphasis on small producers of family agriculture and to seek alternatives for legal marketing of organic products through family farming, based on Law 10.831/2003. Data collection on lettuce response to fertilization was completely randomized, with five treatments and four repetitions. It is a descriptive, exploratory research. Through a bibliographical survey, it was concluded that the insertion in the system of agroecological-organic production is opportune to establish competitiveness in family farming, in the primary productive sector of the production chain of olericulture, where the American Lettuce is among the main cultivated varieties. It was observed that the fertilization with manure of hardened chicken showed a higher development of lettuce in relation to other treatments. The consumer market confirms a demand for healthy food with the focus on vegetables. For legal marketing, organic food needs to get a special seal. Brazilian legislation establishes three guarantee instruments: third-party certification, participatory guarantee systems and social control for direct sale without certification. This last recommended for family farmers.

Types of analysis of trompenaar's (1994 organizational culture prevailing in the area of controllership in family businesses in textile industry

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Vanderlei dos Santos

2010-01-01

Full Text Available The study aims to identify the types of analysis of Trompenaar's (1994 organizational culture prevailing in the area of controllership in family businesses in textile industry. Descriptive research was performed, with quantitative and qualitative approach, using a multiple case study. Data were collected through interviews with the controller of the companies. In the four basic culture types suggested by Trompenaars (1994, it is concluded that there isn´t a pure kind, but there is a strong presence of family culture among the companies surveyed in dimensions relationship between employees, attitude in relation to the ways of change, forms of motivation and reward

Holistic approach to prevention and management of type 2 diabetes mellitus in a family setting.

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Ofori, Sandra N; Unachukwu, Chioma N

2014-01-01

Diabetes mellitus (DM) is a chronic, progressive metabolic disorder with several complications that affect virtually all the systems in the human body. Type 2 DM (T2DM) is a major risk factor for cardiovascular disease (CVD). The management of T2DM is multifactorial, taking into account other major modifiable risk factors, like obesity, physical inactivity, smoking, blood pressure, and dyslipidemia. A multidisciplinary team is essential to maximize the care of individuals with DM. DM self-management education and patient-centered care are the cornerstones of management in addition to effective lifestyle strategies and pharmacotherapy with individualization of glycemic goals. Robust evidence supports the effectiveness of this approach when implemented. Individuals with DM and their family members usually share a common lifestyle that, not only predisposes the non-DM members to developing DM but also, increases their collective risk for CVD. In treating DM, involvement of the entire family, not only improves the care of the DM individual but also, helps to prevent the risk of developing DM in the family members.

On the Emerging Role of the Taste Receptor Type 1 (T1R Family of Nutrient-Sensors in the Musculoskeletal System

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Shoichiro Kokabu

2017-03-01

Full Text Available The special sense of taste guides and guards food intake and is essential for body maintenance. Salty and sour tastes are sensed via ion channels or gated ion channels while G protein-coupled receptors (GPCRs of the taste receptor type 1 (T1R family sense sweet and umami tastes and GPCRs of the taste receptor type 2 (T2R family sense bitter tastes. T1R and T2R receptors share similar downstream signaling pathways that result in the stimulation of phospholipase-C-β2. The T1R family includes three members that form heterodimeric complexes to recognize either amino acids or sweet molecules such as glucose. Although these functions were originally described in gustatory tissue, T1R family members are expressed in numerous non-gustatory tissues and are now viewed as nutrient sensors that play important roles in monitoring global glucose and amino acid status. Here, we highlight emerging evidence detailing the function of T1R family members in the musculoskeletal system and review these findings in the context of the musculoskeletal diseases sarcopenia and osteoporosis, which are major public health problems among the elderly that affect locomotion, activities of daily living, and quality of life. These studies raise the possibility that T1R family member function may be modulated for therapeutic benefit.

[PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

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Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

2016-12-07

Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

Familial Investigations of Childhood Cancer Predisposition

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2018-01-03

Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

The major megadrile families of th e World reviewed again on their taxonomic types (Annelida: Oligochaeta: Megadrilacea

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Blakemore, R. J.

2013-11-01

Full Text Available A critique of recent clado-molecular phylogenies notes shortcomings of starting materials, methods applied, and,therefore, their conclusions; hence this review. A new group, Exquisiclitellata, is newly defined as those ‘non-crassiclitellate’members of the superorder Megadrilacea (viz., Moniligastridae Claus, 1880, plus Alluroididae Michaelsen, 1900 andSyngenodrilidae Smith & Green, 1919. Support for restitution and elevation of American Diplocardiinae Michaelsen, 1900and Argilophilini Fender & McKey-Fender, 1990 are again raised. ICZN priority requires revival of Typhoeus Beddard, 1883over synonym Eutyphoeus Michaelsen, 1900 and the sub-family Typhoeinae (corr. of Typhaeinae Benham, 1890 is reestablished.Hoplochaetellinae sub-family nov. is proposed as a development of Octochaetidae s. lato in India.Wegeneriellinae sub-fam. nov. accommodates the holoic members of a restricted Neogastrini Csuzdi, 1996 from W. Africaand S. America. Caribbean family Exxidae Blakemore, 2000 and related Trigastrinae Michaelsen, 1900 are both retained. Acontingency table of Megascolecidae s. stricto sub-families and types is presented with some revived and a few new subfamiliesproposed, particularly from Australasia. These are Diporochaetinae, Megascolidesinae, Celeriellinae, andWoodwardiellinae sub-fams. nov. Synonymy of Perichaetidae Claus, 1880 over Megascolecidae Rosa, 1891 is deferred forreasons of nomenclatural stability. For the large African family Eudrilidae Claus, 1880, a new sub-family, Polytoreutinae, isadvanced and the status of abandoned Teleudrilini Michaelsen, 1891 and overlooked Hippoperidae Taylor, 1949 are noted.

Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

DEFF Research Database (Denmark)

Hovden, Silje; Jespersen, Marie Louise; Nissen, Peter H

2016-01-01

Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies...... and for the worry of being diagnosed with a cancer susceptibility syndrome....

Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes.

Science.gov (United States)

Papazafiropoulou, Athanasia; Sotiropoulos, Alexios; Skliros, Eystathios; Kardara, Marina; Kokolaki, Anthi; Apostolou, Ourania; Pappas, Stavros

2009-04-27

A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D). The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05) and lower LDL-cholesterol levels (115.12 +/- 39.76 vs. 127.13 +/- 46.53 mg/dl, P = 0.006) than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

Mucin-type O-glycosylation is controlled by short- and long-range glycopeptide substrate recognition that varies among members of the polypeptide GalNAc transferase family

DEFF Research Database (Denmark)

Revoredo, Leslie; Wang, Shengjun; Bennett, Eric Paul

2016-01-01

A large family of UDP-GalNAc:polypeptide GalNAc transferases (ppGalNAc-Ts) initiates and defines sites of mucin-type Ser/Thr-O-GalNAc glycosylation. Family members have been classified into peptide- and glycopeptide-preferring subfamilies, although both families possess variable activities agains...

Supernova 2010as: the lowest-velocity member of a family of flat-velocity type IIb supernovae

Energy Technology Data Exchange (ETDEWEB)

Folatelli, Gastón; Bersten, Melina C.; Nomoto, Ken' ichi [Kavli Institute for the Physics and Mathematics of the Universe (WPI), The University of Tokyo, Kashiwa, Chiba 277-8583 (Japan); Kuncarayakti, Hanindyo; Hamuy, Mario [Departamento de Astronomía, Universidad de Chile, Casilla 36-D, Santiago (Chile); Olivares Estay, Felipe; Pignata, Giuliano [Departamento de Ciencias Fisicas, Universidad Andres Bello, Avda. Republica 252, Santiago (Chile); Anderson, Joseph P. [European Southern Observatory, Alonso de Cordova 3107, Vitacura, Santiago (Chile); Holmbo, Simon; Stritzinger, Maximilian [Department of Physics and Astronomy, Aarhus University, Ny Munkegade 120, DK-8000 Aarhus C (Denmark); Maeda, Keiichi [Department of Astronomy, Kyoto University, Kitashirakawa-Oiwake-cho, Sakyo-ku, Kyoto 606-8502 (Japan); Morrell, Nidia; Contreras, Carlos; Phillips, Mark M. [Las Campanas Observatory, Carnegie Observatories, Casilla 601, La Serena (Chile); Förster, Francisco [Center for Mathematical Modelling, Universidad de Chile, Avenida Blanco Encalada 2120 Piso 7, Santiago (Chile); Prieto, José Luis [Department of Astrophysical Sciences, Princeton University, 4 Ivy Lane, Peyton Hall, Princeton, NJ 08544 (United States); Valenti, Stefano [Las Cumbres Observatory Global Telescope Network, 6740 Cortona Drive, Suite 102, Goleta, CA 93117 (United States); Afonso, Paulo; Altenmüller, Konrad; Elliott, Jonny, E-mail: gaston.folatelli@ipmu.jp [Max-Planck-Institut für extraterrestrische Physik, Giessenbachstraße 1, D-85740 Garching (Germany); and others

2014-09-01

We present extensive optical and near-infrared photometric and spectroscopic observations of the stripped-envelope supernova SN 2010as. Spectroscopic peculiarities such as initially weak helium features and low expansion velocities with a nearly flat evolution place this object in the small family of events previously identified as transitional Type Ib/c supernovae (SNe). There is ubiquitous evidence of hydrogen, albeit weak, in this family of SNe, indicating that they are in fact a peculiar kind of Type IIb SNe that we name 'flat-velocity' Type IIb. The flat-velocity evolution—which occurs at different levels between 6000 and 8000 km s{sup –1} for different SNe—suggests the presence of a dense shell in the ejecta. Despite the spectroscopic similarities, these objects show surprisingly diverse luminosities. We discuss the possible physical or geometrical unification picture for such diversity. Using archival Hubble Space Telescope images, we associate SN 2010as with a massive cluster and derive a progenitor age of ≈6 Myr, assuming a single star-formation burst, which is compatible with a Wolf-Rayet progenitor. Our hydrodynamical modeling, on the contrary, indicates that the pre-explosion mass was relatively low, ≈4 M {sub ☉}. The seeming contradiction between a young age and low pre-SN mass may be solved by a massive interacting binary progenitor.

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

Science.gov (United States)

Espinós, C; Millán, J M; Sánchez, F; Beneyto, M; Nájera, C

1998-06-01

In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USHIB mutations in these families could be located in the unscreened regions of the gene.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Science.gov (United States)

Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array‑based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice‑site mutation MITF c.909G>A in family 03 and an in‑frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.

Genomic evolution of 11 type strains within family Planctomycetaceae.

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Min Guo

Full Text Available The species in family Planctomycetaceae are ideal groups for investigating the origin of eukaryotes. Their cells are divided by a lipidic intracytoplasmic membrane and they share a number of eukaryote-like molecular characteristics. However, their genomic structures, potential abilities, and evolutionary status are still unknown. In this study, we searched for common protein families and a core genome/pan genome based on 11 sequenced species in family Planctomycetaceae. Then, we constructed phylogenetic tree based on their 832 common protein families. We also annotated the 11 genomes using the Clusters of Orthologous Groups database. Moreover, we predicted and reconstructed their core/pan metabolic pathways using the KEGG (Kyoto Encyclopedia of Genes and Genomes orthology system. Subsequently, we identified genomic islands (GIs and structural variations (SVs among the five complete genomes and we specifically investigated the integration of two Planctomycetaceae plasmids in all 11 genomes. The results indicate that Planctomycetaceae species share diverse genomic variations and unique genomic characteristics, as well as have huge potential for human applications.

Conns' syndrome - atypical presentations

International Nuclear Information System (INIS)

Kumar, K V S Hari; Modi, K D; Jha, Sangeeta; Jha, Ratan

2009-01-01

Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)

[Diabetic foot risk in patients with type II diabetes mellitus in a family medicine unit].

Science.gov (United States)

Márquez-Godínez, S A; Zonana-Nacach, A; Anzaldo-Campos, M C; Muñoz-Martínez, J A

2014-01-01

To determine the risk of diabetic foot in patients with type II diabetes mellitus (DM) seen in a Family Medicine Unit. The study included type II DM patients with a disease duration ≥ 5 years seen in a Family Medicine Unit, Tijuana, Mexico, during September-December 2011. Neuropathy was assessed with the Diabetic Neuropathy Symptom questionnaire, and pressure sensation using a 10-g Semmes-Weinstein monofilament. A patient had a high risk of diabetic foot if there was sensitivity loss, foot deformities, and non-palpable pedal pulses. We studied 205 patients with an average (± SD) age and DM duration of 59 ± 10 years and 10.7 ± 6.7 years, respectively. Ninety one patients (44%) had a high risk of developing diabetic foot, and it was associated with; an education of less than 6 years (OR 2.3; 95%CI: 1-1-4.1), DM disease duration ≥ 10 years (OR 5.1; 95%CI: 2.8-9.4), female gender (OR 2.0; 95%CI: 1.1-3.6), monthly familiar income diabetic neuropathy, since they have a high risk of diabetic foot. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Family History of Type 2 Diabetes is Associated with Metabolic Syndrome in Obese Female Subjects

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Ticiana Costa Rodrigues

2008-08-01

Full Text Available The aim of this study was to evaluate the association between the family history (FH of type 2 diabetes and metabolic syndrome (MetS in a group of non-diabetic obese female subjects. A cross-sectional study was conducted in 239 female patients with obesity, regularly attending the Internal Medicine Division’s outpatient clinic (Hospital de Clínicas de Porto Alegre, Brazil. The inclusion criteria were patients with body mass index ?30 kg/m2 and absence of type 2 diabetes. The FH was considered positive if a first degree relative had a diagnosis of diabetes. Seventy-four of 239 patients evaluated (30% had a positive FH for type 2 diabetes. Patients with positive FH had higher waist/hip ratio and MetS more often than patients with negative FH. FH of type 2 diabetes was associated with MetS in this sample of non-diabetic obese female patients. Waist/hip ratio and fasting plasma glucose, markers of insulin resistance, were also associated with FH of type 2 diabetes. The simple question: “Do you have a FH of type 2 diabetes?” may help to identify the obese patients that should be better evaluated and intensively treated with the objective of preventing type 2 diabetes.

Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes

DEFF Research Database (Denmark)

Eliraqi, G M; Vistisen, D; Lauritzen, T

2015-01-01

Aim To investigate whether intensive multifactorial treatment can reverse the predisposed adverse phenotype of people with Type 2 diabetes who have a family history of diabetes. Methods Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients...... pressure, lipids and HbA1c) after 5 years of follow-up in participants with and without a family history of diabetes. An interaction term between family history of diabetes and treatment group was included in the models to test for a modifying effect of the intervention. All analyses were adjusted for age...... with diabetes (598 with family history of diabetes) were randomized to intensive treatment or routine care. Family history of diabetes was defined as having one parent and/or sibling with diabetes. Linear mixed-effects models were used to assess the changes in risk factors (BMI, waist circumference, blood...

Individual and family strengths: an examination of the relation to disease management and metabolic control in youth with type 1 diabetes.

Science.gov (United States)

Mackey, Eleanor Race; Hilliard, Marisa E; Berger, Sarah Shafer; Streisand, Randi; Chen, Rusan; Holmes, Clarissa

2011-12-01

We examined the association of youths' positive qualities, family cohesion, disease management, and metabolic control in Type 1 diabetes. Two-hundred fifty-seven youth-parent dyads completed the Family Cohesion subscale of the Family Environment Scale, the Diabetes Behavior Rating Scale, 24-hour diabetes interview, and youth completed the Positive Qualities subscale of the Youth Self Report (YSR-PQ). Structural equation modeling demonstrated that YSR-PQ scores were associated with metabolic control mediated by associations with more family cohesion and better disease management. That is, youth with higher YSR-PQ scores had more cohesive families, better disease management, and, indirectly, better metabolic control. Family cohesion was indirectly associated with better metabolic control mediated by its association with better disease management, but not mediated by its association with YSR-PQ scores. Youth who reported more positive qualities, as measured by the YSR-PQ subscale, had better disease management and metabolic control through the association with more family cohesion. However, the current results did not support an alternative hypothesis that cohesive families display better diabetes management mediated by higher YSR-PQ scores.

Moisture supply in Danish single-family houses – the influence of occupant behaviour and type of room

DEFF Research Database (Denmark)

Møller, Eva B.; Hansen, Ernst Jan de Place

2017-01-01

According to ISO 13788, the internal moisture supply in dwellings can be described by humidity classes defined by outdoor temperature, occupancy and ventilation. Hygrothermal measurements in indoor air in 500 Danish single-family houses were made to investigate if this corresponds with reality....... The study focuses on the dependency of number and age of occupants, occupants’ time spent in the house, square meters living space, ventilation habits and type of room. Moisture supply depends on the type of room; bathroom, basement and living room have the highest values. None of the other parameters seems...

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

Science.gov (United States)

Scabini, Eugenia; Lanz, Margherita; Marta, Elena

1999-01-01

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

Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.

Science.gov (United States)

Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

2015-02-01

The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Kernel based machine learning algorithm for the efficient prediction of type III polyketide synthase family of proteins

Directory of Open Access Journals (Sweden)

Mallika V

2010-03-01

Full Text Available Type III Polyketide synthases (PKS are family of proteins considered to have significant role in the biosynthesis of various polyketides in plants, fungi and bacteria. As these proteins show positive effects to human health, more researches are going on regarding this particular protein. Developing a tool to identify the probability of sequence, being a type III polyketide synthase will minimize the time consumption and manpower efforts. In this approach, we have designed and implemented PKSIIIpred, a high performance prediction server for type III PKS where the classifier is Support Vector Machine (SVM. Based on the limited training dataset, the tool efficiently predicts the type III PKS superfamily of proteins with high sensitivity and specificity. PKSIIIpred is available at http://type3pks.in/prediction/. We expect that this tool may serve as a useful resource for type III PKS researchers. Currently work is being progressed for further betterment of prediction accuracy by including more sequence features in the training dataset.

Family Density and SES Related to Diabetes Management and Glycemic Control in Adolescents With Type 1 Diabetes.

Science.gov (United States)

Caccavale, Laura J; Weaver, Patrick; Chen, Rusan; Streisand, Randi; Holmes, Clarissa S

2015-06-01

Youth with Type 1 diabetes (T1D) from single-parent families have poorer glycemic control; a finding confounded with socioeconomic status (SES). Family density (FD), or youth:adult ratio, may better characterize family risk status. Structural equation modeling assessed the relation of single-parent status, SES, and FD to parenting stress, diabetes-related conflict, parental monitoring, adherence, and glycemic control using cross-sectional parent and youth data (n = 257). Single-parent status exhibited similar relations as SES and was removed. Lower FD was associated with better glycemic control (β = -.29, p = .014) via less conflict (β = .17, p = .038) and greater adherence (β = -.54, p single-parent status were indistinguishable from those of SES. FD provides distinct information related to adolescent glycemic control. © 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.

[Expression of mutation type GJA8 gene and wild type GJA8 gene of a congenital inherited nuclear cataract family in eukaryotic cells].

Science.gov (United States)

Zheng, Jian-qiu; Liu, Ping; Wang, Jian-wen; Liu, Jian-ju

2010-04-20

To clone the sequence of mutation type GJA8 gene (mGJA8) and wild type GJA8 gene (wGJA8) of a congenital inherited nuclear cataract family and study their expression in eukaryotic cell lines in vitro. The mGJA8 and wGJA8 were amplified from this family's DNA and healthy people's DNA by PCR respectively. The mGJA8 and wGJA8 were recombined with plasmid pEGFP-N1 respectively. The accuracy of pEGFP-N1-GJA8 was confirmed by restriction enzyme digestion and DNA sequencing. Finally pEGFP-N1- mGJA8 and pEGFP-N1- wGJA8 and GFP protein were transfected into COS7 cells by lipofectin. The expression of pEGFP-N1-GJA8 and GFP fusion protein were to observe under fluorescence microscope, and to detect by Western-blotting and immunohistochemical staining. The mGJA8 and wGJA8 were cloned successfully. With restricting enzyme digestion analysis and DNA sequencing, recombinant plasmid pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 were constructed correctly and their GFP fusions were expressed in transfected COS7 cells. The expression of pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 fusion protein were observed under fluorescence microscope, and detected by Western-blotting and immunohistochemical staining successfully. The mGJA8 gene and wGJA8 gene are cloned successfully, and pEGFP-N1-mGJA8 and pEGFP-N1-mGJA8 fusion protein can be expressed in COS7 cells, which establish the foundation for further studying the mechanism of this congenital inherited nuclear cataract family.

Identification of Heat Shock Protein families and J-protein types by incorporating Dipeptide Composition into Chou's general PseAAC.

Science.gov (United States)

Ahmad, Saeed; Kabir, Muhammad; Hayat, Maqsood

2015-11-01

Heat Shock Proteins (HSPs) are the substantial ingredients for cell growth and viability, which are found in all living organisms. HSPs manage the process of folding and unfolding of proteins, the quality of newly synthesized proteins and protecting cellular homeostatic processes from environmental stress. On the basis of functionality, HSPs are categorized into six major families namely: (i) HSP20 or sHSP (ii) HSP40 or J-proteins types (iii) HSP60 or GroEL/ES (iv) HSP70 (v) HSP90 and (vi) HSP100. Identification of HSPs family and sub-family through conventional approaches is expensive and laborious. It is therefore, highly desired to establish an automatic, robust and accurate computational method for prediction of HSPs quickly and reliably. Regard, a computational model is developed for the prediction of HSPs family. In this model, protein sequences are formulated using three discrete methods namely: Split Amino Acid Composition, Pseudo Amino Acid Composition, and Dipeptide Composition. Several learning algorithms are utilized to choice the best one for high throughput computational model. Leave one out test is applied to assess the performance of the proposed model. The empirical results showed that support vector machine achieved quite promising results using Dipeptide Composition feature space. The predicted outcomes of proposed model are 90.7% accuracy for HSPs dataset and 97.04% accuracy for J-protein types, which are higher than existing methods in the literature so far. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

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

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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.

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].

Science.gov (United States)

Zheng, Lei; Yan, Yousheng; Chen, Xue; Zhang, Chuan; Zhang, Qinghua; Feng, Xuan; Hao, Shen

2018-02-10

OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. CONCLUSION The c.127C>T (p.R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.

Science.gov (United States)

Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P

1995-03-01

An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).

Predictors of associated autoimmune diseases (AAID) in families with type 1 diabetes (T1D). Results from the Type 1 Diabetes Genetics Consortium (T1DGC)

Science.gov (United States)

Wägner, Ana M; Santana, Ángelo; Hernández, Marta; Wiebe, Julia C; Nóvoa, Javier; Mauricio, Didac

2011-01-01

Background Type 1 diabetes (T1D) is a clinically heterogeneous disease. The presence of associated autoimmune diseases (AAID) may represent a distinct form of autoimmune diabetes, with involvement of specific mechanisms. The aim of this study was to find predictors of AAID in the Type 1 Diabetes Genetics Consortium (T1DGC) data set. Methods 3263 families with at least 2 siblings with T1D were included. Clinical information was obtained using questionnaires, anti-GAD and anti-IA-2 were measured and HLA-genotyping was performed. Siblings with T1D with and without AAID were compared and a multivariate regression analysis was performed to find predictors of AAID. T1D-associated HLA haplotypes were defined as the 4 most susceptible and protective, respectively. Results AAID was present in 14.4% of the T1D affected siblings. Age of diabetes onset, current age and time since diagnosis were higher, and there was a female predominance and more family history of AAID in the group with AAID, as well as more frequent anti-GAD and less frequent anti-IA2 positivity. Risk and protective HLA haplotype distributions were similar, though DRB1*0301-DQA1*0501-DQB1*0201 was more frequent in the group with AAID. In the multivariate analysis, female gender, age of onset, family history of AAID, time since diagnosis and anti-GAD positivity were significantly associated with AAID. Conclusions In patients with T1D, the presence of AAID is associated with female predominance, more frequent family history of AAID, later onset of T1D and more anti-GAD antibodies, despite longer duration of the disease. The predominance of certain HLA haplotypes suggests that specific mechanisms of disease may be involved. PMID:21744463

Family history of type 2 diabetes, abdominal adipocyte size and markers of the metabolic syndrome.

Science.gov (United States)

Anthanont, P; Ramos, P; Jensen, M D; Hames, K C

2017-11-01

A major risk factor of type 2 diabetes mellitus (T2DM) is a positive family history of diabetes. First degree relatives (FDR) of patients with T2DM are more insulin resistant and are reported to have larger abdominal subcutaneous adipocytes than adults without a family history. Our objectives were to assess whether FDR of T2DM are associated with larger abdominal adipocytes independent of age, sex and abdominal subcutaneous fat and to assess whether a family history of T2DM is also independently related to femoral adipocyte size, as well as visceral fat and fasting plasma triglyceride (TG) concentrations. We extracted adipocyte size, body composition, plasma TG and demographic data of non-diabetic research participants of previous studies conducted in our laboratory. We ascertained the family history of T2DM from the electronic medical records. Multivariate regression analysis was used to assess whether FDR of T2DM are more likely to have other risk factors after adjusting for known covariates. Of 604 participants, 148 were FDR of T2DM. Although abdominal and femoral adipocyte size was greater in FDR of T2DM than those without a family history (0.74±0.33 vs 0.63±0.33 μg lipid per cell, Phistory of T2DM was a significant predictor of abdominal adipocyte size after adjustment for age and body fat distribution parameters in females (total R 2 =0.5, Phistory of T2DM was not independently predictive of femoral adipocyte size, visceral fat area or TG. Female FDR of T2DM have larger abdominal, but not femoral, adipocytes, even after accounting for age and body fat distribution.

Average happiness and dominant family type in Western Europe around 2000

NARCIS (Netherlands)

G.R. Brulé (Gaël); R. Veenhoven (Ruut)

2014-01-01

textabstractResearch on the relation between family and happiness has focused on the micro level and considered the effects of an individual’s place in the family system, such as whether or not one is married and exchange of support with kin. Macro level differences in the family system as such have

Holistic approach to prevention and management of type 2 diabetes mellitus in a family setting

Directory of Open Access Journals (Sweden)

Ofori SN

2014-05-01

Full Text Available Sandra N Ofori, Chioma N Unachukwu Department of Internal Medicine, University of Port Harcourt Teaching Hospital, Port Harcourt, Rivers State, Nigeria Abstract: Diabetes mellitus (DM is a chronic, progressive metabolic disorder with several complications that affect virtually all the systems in the human body. Type 2 DM (T2DM is a major risk factor for cardiovascular disease (CVD. The management of T2DM is multifactorial, taking into account other major modifiable risk factors, like obesity, physical inactivity, smoking, blood pressure, and dyslipidemia. A multidisciplinary team is essential to maximize the care of individuals with DM. DM self-management education and patient-centered care are the cornerstones of management in addition to effective lifestyle strategies and pharmacotherapy with individualization of glycemic goals. Robust evidence supports the effectiveness of this approach when implemented. Individuals with DM and their family members usually share a common lifestyle that, not only predisposes the non-DM members to developing DM but also, increases their collective risk for CVD. In treating DM, involvement of the entire family, not only improves the care of the DM individual but also, helps to prevent the risk of developing DM in the family members. Keywords: cardiovascular disease, multifactorial management

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

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Lu, Qian; Yuan, Lamei; Xu, Hongbo; Huang, Xiangjun; Yang, Zhijian; Yi, Junhui; Ni, Bin; Chen, Yong; Deng, Hao

2017-03-01

Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

Impaired fat oxidation after a single high-fat meal in insulin-sensitive nondiabetic individuals with a family history of type 2 diabetes.

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Heilbronn, Leonie K; Gregersen, Søren; Shirkhedkar, Deepali; Hu, Dachun; Campbell, Lesley V

2007-08-01

Individuals with insulin resistance and type 2 diabetes have an impaired ability to switch appropriately between carbohydrate and fatty acid oxidation. However, whether this is a cause or consequence of insulin resistance is unclear, and the mechanism(s) involved in this response is not completely elucidated. Whole-body fat oxidation and transcriptional regulation of genes involved in lipid metabolism in skeletal muscle were measured after a prolonged fast and after consumption of either high-fat (76%) or high-carbohydrate (76%) meals in individuals with no family history of type 2 diabetes (control, n = 8) and in age- and fatness-matched individuals with a strong family history of type 2 diabetes (n = 9). Vastus lateralis muscle biopsies were performed before and 3 h after each meal. Insulin sensitivity and fasting measures of fat oxidation were not different between groups. However, subjects with a family history of type 2 diabetes had an impaired ability to increase fatty acid oxidation in response to the high-fat meal (P FAT)/CD36 (P fat meal in both groups, but it was not changed after the high-carbohydrate meal. In conclusion, an impaired ability to increase fatty acid oxidation precedes the development of insulin resistance in genetically susceptible individuals. PGC1alpha and FAT/CD36 are likely candidates in mediating this response.

Vertical transmission of macular telangiectasia type 2.

Science.gov (United States)

Delaere, Lien; Spielberg, Leigh; Leys, Anita M

2012-01-01

The purpose of this study was to report vertical transmission of macular telangiectasia type 2 and type 2 diabetes mellitus in 3 families. In this retrospective interventional case series, the charts of patients with inherited macular telangiectasia type 2 were reviewed. A large spectrum of presentations of macular telangiectasia type 2 was observed and has been studied with different techniques including best-corrected visual acuity, microperimetry, confocal blue reflectance fundus autofluorescence, fluorescein angiography, and time domain and spectral domain optical coherence tomography. Vertical transmission of macular telangiectasia type 2 and associated type 2 diabetes mellitus is described in 3 families. Symptomatic as well as asymptomatic eyes with macular telangiectasia type 2 were identified. In 2 families, a mother and son experienced visual loss and were diagnosed with macular telangiectasia type 2. All 4 patients had type 2 diabetes. Diabetic retinopathy was observed in one mother and her son. In the third family, the index patient was diagnosed macular telangiectasia type 2 after complaints of metamorphopsia. She and her family members had type 2 diabetes mellitus, and further screening of her family revealed familial macular telangiectasia type 2. None of the patients were treated for macular telangiectasia type 2. Macular telangiectasia type 2 may be more common than previously assumed, as vision can remain preserved and patients may go undiagnosed. Screening of family members is indicated, and detection of mild anomalies is possible using fundus autofluorescence and spectral domain optical coherence tomography.

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

Science.gov (United States)

Eliason, B C; Schubot, D B

1995-09-01

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

Loosely coupled class families

DEFF Research Database (Denmark)

Ernst, Erik

2001-01-01

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

Smooth School Transitions: Tips for Military Families

Science.gov (United States)

... All Around Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your ... Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of ...

Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

DEFF Research Database (Denmark)

Bøttger, Pernille; Pedersen, Simon Glerup; Gesslein, Bodil

2016-01-01

Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...... sex hormone cycle and the glutamate system and a link to co-morbid psychiatric manifestations of FHM2....

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.

Science.gov (United States)

Armour, C M; Bulman, D E; Hunter, A G

2000-04-01

The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised by maximal involvement of the middle phalanges. We report an extended family with a mild brachydactyly A1 which was, except for some short stature, not associated with any of the additional clinical findings reported in several published families. While all the hand bones tended to be small, the principal features of the affected members were shortened middle and distal phalanges, proximal 1st phalanges, and 5th metacarpals. The feet were similarly involved and tended to have a broad, slightly adducted forefoot. The two affected children showed multiple coned epiphyses. This paper provides a detailed description of the family including the radiographic signs and metacarpophalangeal profiles, which proved to be useful in distinguishing the mildly affected persons.

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.

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Zhang, Nian; Wang, Juan; Liu, Shuting; Liu, Mugen; Jiang, Fagang

2018-06-08

To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members. Typical fundus features found in the proband supported the diagnosis of retinitis pigmentosa (RP). Audiometric test indicated moderate to severe sensorineural hearing impairment while the vestibular function was normal. Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1, a known gene responsible for Usher syndrome type IIC. Mutationc.15008delG/p.Gly5003AlafsTer13 was inherited from the mother while c.18383_18386dupACAG/p.His6130GlnfsTer84 was inherited from the father, and they were co-segregated with the disease phenotype in the family. The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients.

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

Science.gov (United States)

Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

[Impact of Different Types of Fathers on Family Climate in Young Adulthood: A Multi-perspective Longitudinal Study on 14 to 27 Year Olds and their Fathers].

Science.gov (United States)

Escher, Fabian J; Seiffge-Krenke, Inge

2018-01-01

Impact of Different Types of Fathers on Family Climate in Young Adulthood: A Multi-perspective Longitudinal Study on 14 to 27 Year Olds and their Fathers In a 13 year longitudinal study, the influence of three types of fathers on the family climate was analyzed. In a sample of 213 subjects, their 169 fathers and their 210 mothers, the family environment ( Family Environment Scales) was examined when the subjects were young adults (M = 26.89, SD = 1.32). The results of the study point to significant changes in family climate in those young adults who described their father as increasingly negative (N = 28) or distant (N = 11) when in adolescence. These two groups showed a more negative family environment and greater differences between the perspectives of fathers and their young adult children than the group of young adults who described their father as normative (N = 174) when in adolescence. The highest discrepancies were described by young adults with a negative relationship with their father in adolescence. The findings show a long lasting importance of father-child interactions in adolescence.

Family Functioning and Adolescent Help-Seeking Behavior.

Science.gov (United States)

Fallon, Barry J.; Bowles, Terry V. P.

2001-01-01

Examined relationship between help seeking behavior and family functioning. Adolescents who sought help clustered into two groups of families - one high in conflict and low in democratic parenting style, and one low in conflict and high in democratic parenting style. Complex relationships between help seeking behavior, type of family, and type of…

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

2013-01-01

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…

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Science.gov (United States)

Rizel, Leah; Safieh, Christine; Shalev, Stavit A; Mezer, Eedy; Jabaly-Habib, Haneen; Ben-Neriah, Ziva; Chervinsky, Elena; Briscoe, Daniel; Ben-Yosef, Tamar

2011-01-01

This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. Haplotype analysis for all known USH1 loci was performed in each family. In families for which haplotype analysis was inconclusive, we performed genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array. For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. Mutation screening was performed with direct sequencing. A combination of haplotype analysis and genome-wide homozygosity mapping indicated linkage to the USH1B locus in two families, USH1C in one family and USH1G in another family. Sequence analysis of the relevant genes (MYO7A, USH1C, and USH1G) led to the identification of pathogenic mutations in all families. Two of the identified mutations are novel (c.1135-1147dup in MYO7A and c.206-207insC in USH1G). USH1 is a genetically heterogenous condition. Of the five USH1 genes identified to date, USH1C and USH1G are the rarest contributors to USH1 etiology worldwide. It is therefore interesting that two of the four Israeli Arab families reported here have mutations in these two genes. This finding further demonstrates the unique genetic structure of the Israeli population in general, and the Israeli Arab population in particular, which due to high rates of consanguinity segregates many rare autosomal recessive genetic conditions.

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Science.gov (United States)

Liu, Mugen; Wang, Xu; Cai, Zhou; Tang, Zhaohui; Cao, Kangsheng; Liang, Bo; Ren, Xiang; Liu, Jing Yu; Wang, Qing K

2006-01-01

Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. In this study, a large five-generation Chinese family with BDA1 was identified and characterized. All affected family members demonstrated significant homogeneous phenotype and some unique clinical features different from those associated with the reported BDA1 mutations in IHH. Linkage analysis showed that the BDA1 gene in the family was linked to marker D2S126 close to IHH with a LOD score of 4.74 at a recombination fraction of 0. DNA sequence analysis revealed a heterozygous C to T transition at nucleotide 461 of IHH, resulting in a novel T154I substitution. The T154I mutation co-segregated with all affected individuals in the family, and was not present in normal family members or 200 normal controls. These results expand the spectrum of clinical phenotype associated with IHH mutations.

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

Science.gov (United States)

Hazan, Filiz; Ozturk, A Taylan; Adibelli, Hamit; Unal, Nurettin; Tukun, Ajlan

2013-01-01

Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3. We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.

Impact of Relationship Status and Quality (Family Type on the Mental Health of Mothers and Their Children: A 10-Year Longitudinal Study

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Jasmin Hannighofer

2017-11-01

Full Text Available Mothers and children of single or unstable relationships have higher rates of mental health problems than those in stable two-parent families. Despite results that mothers and children of conflictual two-parent families also show impairments, most studies do not consider relationship quality. Therefore, the present study combines relationship status and relationship quality to a “family type.” The present study compares German mothers and children of two-parent families with high relationship quality to those from two-parent families with a low quality, single mothers, and unstable families. Data of n = 249 families from a 10-year follow-up longitudinal study show that mothers with a high relationship quality show the highest levels of mental health whereas all other groups show at least a 3.2 times higher probability of mental health symptoms. Children of mothers in unstable relationships show a 8.2 times higher probability to emotional or behavioral problems than children of mothers with high relationship quality. Therefore, not only relationship status but also relationship quality should be combined and this “family type” should be considered in future research.

Family Conflict and Children's Self-Concepts: A Comparison of Intact and Single-Parent Families.

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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…

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

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Liu, Fei; Li, Pengcheng; Liu, Ying; Li, Weirong; Wong, Fulton; Du, Rong; Wang, Lei; Li, Chang; Jiang, Fagang; Tang, Zhaohui; Liu, Mugen

2013-01-01

To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the proband, all coding exons and exon-intron boundaries of MYO7A were sequenced to identify the disease-causing mutation(s). Restriction fragment length polymorphism (RFLP) analysis was performed to exclude the alternative conclusion that the mutations are non-pathogenic rare polymorphisms. Based on severe hearing impairment, unintelligible speech, and retinitis pigmentosa, a clinical diagnosis of Usher syndrome type 1 was made. The genotyping results did not exclude the USH1B locus, which suggested that the MYO7A gene was likely the gene associated with the disease-causing mutation(s) in the family. With direct DNA sequencing of MYO7A, two novel compound heterozygous mutations (c.3742G>A and c.6051+1G>A) of MYO7A were identified in the proband. DNA sequence analysis and RFLP analysis of other family members showed that the mutations cosegregated with the disease. Unaffected members, including the parents, uncle, and sister of the proband, carry only one of the two mutations. The mutations were not present in the controls (100 normal Chinese subjects=200 chromosomes) according to the RFLP analysis. In this study, we identified two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1. The mutations cosegregated with the disease and most likely cause the phenotype in the two affected siblings who carry these mutations compound heterozygously. Our finding expands the mutational spectrum of MYO7A.

Familism, Family Environment, and Suicide Attempts among Latina Youth

OpenAIRE

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

2011-01-01

This study examined the relationship between familism and family environment type as well as the relationship between family environment type and suicide attempts among Latina youth. Latina teen attempters (n=109) and non-attempters (n=107) were recruited from the NYC area. Latent class analysis revealed three family environment types: tight-knit; intermediate-knit; and loose-knit. Tight-knit families (high cohesion and low conflict) were significantly less likely to have teens that attempted...

Development of an empirical typology of African American family functioning.

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Mandara, Jelani; Murray, Carolyn B

2002-09-01

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

Counseling Patients with Senile Dementia of the Alzheimer Type and Their Families.

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LaBarge, Emily

1981-01-01

Discusses symptoms of Alzheimer Disease and suggests client-centered counseling techniques to use with patients and family. Considers the disease's effect on family relationships relative to stage of family development. Examines the adjustment of the caregiving spouse. Offers practical suggestions for coping. (RC)

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

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Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

2016-07-01

Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

OpenAIRE

Kashtan, C; Fish, A J; Kleppel, M; Yoshioka, K; Michael, A F

1986-01-01

We probed epidermal basement membranes (EBM) of acid-urea denatured skin from members of kindreds with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) nephritis in a renal allograft. By immunoblotting, GPS reacted primarily with the 28,000 molecular weight (mol wt) monomer but also the 24,000 mol wt and 26,000 mol wt monomers of the noncollagenous ...

The Family Alliance Model: A Way to Study and Characterize Early Family Interactions

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Nicolas Favez

2017-08-01

Full Text Available The aim of this paper is to present the family alliance (FA model, which is designed to conceptualize the relational dynamics in the early family. FA is defined as the coordination a family can reach when fulfilling a task, such as playing a game or having a meal. According to the model, being coordinated as a family depends on four interactive functions: participation (all members are included, organization (members assume differentiated roles, focalization (family shares a common theme of activity, affect sharing (there is empathy between members. The functions are operationalized through the spatiotemporal characteristics of non-verbal interactions: for example, distance between the partners, orientation of their bodies, congruence within body segments, signals of readiness to interact, joint attention, facial expressions. Several standardized observational situations have been designed to assess FA: The Lausanne Trilogue Play (with its different versions, in which mother, father, and baby interact in all possible configurations of a triad, and the PicNic Game for families with several children. Studies in samples of non-referred and referred families (for infant or parental psychopathology have highlighted different types of FA: disorganized, conflicted, and cooperative. The type of FA in a given family is stable through the first years and is predictive of developmental outcomes in children, such as psychofunctional symptoms, understanding of complex emotions, and Theory of Mind development.

Parenting style and family type, but not child temperament, are associated with television viewing time in children at two years of age.

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Howe, Anna S; Heath, Anne-Louise M; Lawrence, Julie; Galland, Barbara C; Gray, Andrew R; Taylor, Barry J; Sayers, Rachel; Taylor, Rachael W

2017-01-01

Despite the American Academy of Pediatrics (AAP) recommending that electronic media be avoided in children under two years of age, screen use is common in infants and toddlers. The aims of this study were to determine how parenting style, infant temperament, and family type are associated with television viewing in two-year-old children. Participants were from the Prevention of Overweight in Infancy (POI) randomized controlled trial (n = 802) (Dunedin, New Zealand). Demographic information was collected at baseline (late pregnancy), and television and other screen time assessed by questionnaire at 24 months of age. Parenting style (Parenting Practices Questionnaire), infant temperament (Colorado Childhood Temperament Inventory), and family type (7 categories) were reported by both parents. Data were available for 487 participants (61% of the original participants). Median television viewing was relatively low at 21 minutes per day, or 30 minutes in those watching television (82%). Children who watched television played with mobile phones (12% of children) or iPads/tablets (22% of children) more frequently than children who did not (6% of children). In terms of parenting style, children of more authoritarian mothers (β = 17, 95% CI: 6-27 minutes), more authoritarian partners (β = 14, 95% CI: 2-26 minutes), or more permissive mothers (β = 10, 95% CI: 3-17 minutes) watched significantly more television. No significant relationships were observed between child temperament and time watching television after adjustment for confounding variables. Children from "active" families (as rated by partners) watched 29 minutes less television each day (P = 0.002). Parenting style and family type were associated with television viewing time in young children, whereas child temperament was not.

Adolescent and parent diabetes distress in type 1 diabetes: the role of self-efficacy, perceived consequences, family responsibility and adolescent-parent discrepancies.

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Law, G Urquhart; Walsh, Jennifer; Queralt, Victoria; Nouwen, Arie

2013-04-01

To examine the association of adolescent and parent diabetes distress with perceived consequences, dietary self-efficacy, and discrepancies in diabetes family responsibility, in type 1 diabetes (T1D). 203 adolescents with T1D, aged 12-18, and their parents completed self-report questionnaires cross-sectionally. Higher HbA1c, greater perceived negative consequences of diabetes, and reduced self-efficacy predicted adolescent diabetes distress. Higher HbA1c predicted parental diabetes distress, as did diabetes family responsibility disagreements when both family members claimed responsibility, and parents' perception of reduced adolescent self-efficacy. Dietary self-efficacy and perceived negative consequences of diabetes are important factors to consider in assessing and managing adolescent diabetes distress. Perceptions of family responsibility for self-care tasks and parental confidence in adolescents' self-management have implications for parental diabetes distress. Clinical implications support long-held recommendations of taking a family-perspective of T1D care. Copyright © 2012 Elsevier Inc. All rights reserved.

Children's Impressions of Television Families.

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Wartella, Ellen

This research study examines the types of social behaviors portrayed by families in various television series and explores children's impressions of the TV family members. Content analysis of nine family-oriented TV series was employed to describe the ranges of behaviors of fathers, mothers and children on television. Eleven shows from each series…

Cloning, purification and crystallization of a Walker-type Pyrococcus abyssi ATPase family member

International Nuclear Information System (INIS)

Uhring, Muriel; Bey, Gilbert; Lecompte, Odile; Cavarelli, Jean; Moras, Dino; Poch, Olivier

2005-01-01

The Walker-type ATPase PABY2304 of P. abyssi has been cloned, overexpressed, purified and crystallized. X-ray diffraction data from selenomethionine-derivative crystals have been collected to 2.6 Å. The structure has been solved by MAD techniques. Several ATPase proteins play essential roles in the initiation of chromosomal DNA replication in archaea. Walker-type ATPases are defined by their conserved Walker A and B motifs, which are associated with nucleotide binding and ATP hydrolysis. A family of 28 ATPase proteins with non-canonical Walker A sequences has been identified by a bioinformatics study of comparative genomics in Pyrococcus genomes. A high-throughput structural study on P. abyssi has been started in order to establish the structure of these proteins. 16 genes have been cloned and characterized. Six out of the seven soluble constructs were purified in Escherichia coli and one of them, PABY2304, has been crystallized. X-ray diffraction data were collected from selenomethionine-derivative crystals using synchrotron radiation. The crystals belong to the orthorhombic space group C2, with unit-cell parameters a = 79.41, b = 48.63, c = 108.77 Å, and diffract to beyond 2.6 Å resolution

Cloning, purification and crystallization of a Walker-type Pyrococcus abyssi ATPase family member

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Uhring, Muriel; Bey, Gilbert; Lecompte, Odile; Cavarelli, Jean; Moras, Dino; Poch, Olivier, E-mail: poch@igbmc.u-strasbg.fr [Département de Biologie et Génomiques Structurales, UMR 7104, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP Strasbourg, 1 Rue Laurent Fries, 64404 Illkirch (France)

2005-10-01

The Walker-type ATPase PABY2304 of P. abyssi has been cloned, overexpressed, purified and crystallized. X-ray diffraction data from selenomethionine-derivative crystals have been collected to 2.6 Å. The structure has been solved by MAD techniques. Several ATPase proteins play essential roles in the initiation of chromosomal DNA replication in archaea. Walker-type ATPases are defined by their conserved Walker A and B motifs, which are associated with nucleotide binding and ATP hydrolysis. A family of 28 ATPase proteins with non-canonical Walker A sequences has been identified by a bioinformatics study of comparative genomics in Pyrococcus genomes. A high-throughput structural study on P. abyssi has been started in order to establish the structure of these proteins. 16 genes have been cloned and characterized. Six out of the seven soluble constructs were purified in Escherichia coli and one of them, PABY2304, has been crystallized. X-ray diffraction data were collected from selenomethionine-derivative crystals using synchrotron radiation. The crystals belong to the orthorhombic space group C2, with unit-cell parameters a = 79.41, b = 48.63, c = 108.77 Å, and diffract to beyond 2.6 Å resolution.

Formal demography of families and households

NARCIS (Netherlands)

Willekens, F.J.; van Imhoff, E.; Wright, James D.

2015-01-01

‘Family and household demography’ differs from traditional demography in that it explicitly recognizes and studies relationships between individuals. Formal demography focuses on the definition and measurement of families and households, and modeling of types, number, and composition of families and

Waardenburg syndrome and myelomeningocele in a family.

OpenAIRE

Chatkupt, S; Chatkupt, S; Johnson, W G

1993-01-01

We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.

[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].

Science.gov (United States)

Jiang, Haiou; Ge, Chuanqin; Wang, Yiwang; Tang, Genyun; Quan, Qingli

2015-06-01

To identify potential mutations in a Chinese family with Usher syndrome type II. Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls. The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database. The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.

[Comparison of the factors influencing children's self-esteem between two parent families and single parent families].

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Sok, Sohyune R; Shin, Sung Hee

2010-06-01

This study was done to compare factors influencing children's self-esteem between two parent families and single parent families. The participants were 692 children aged 11 to 13 yr (388 in two parent families and 304 in single parent families) recruited from 20 community agencies and 5 elementary schools in Gyeonggi Province and Seoul City, South Korea. Data were collected from May to July, 2007 using a survey questionnaire containing items on self-esteem, internal control, problematic behavior, school record, family hardiness, parent-child communication and social support. The data were analyzed using SPSS 15.0 program and factors affecting children's self-esteem were analyzed by stepwise multiple regression. Scores for the study variables were significantly different between the two groups. The factors influencing children's self-esteem were also different according to family type. For two parent families, internal control, problematic behavior, school record, and parent-child communication significantly predicted the level of self-esteem (adjusted R(2)=.505, psingle parent families, social support, family hardiness, internal control, problematic behavior, school record, and parent-child communication significantly predicted the level of self-esteem (adjusted R(2)=.444, p<.001). Nurse working with children should consider family type-specific factors influencing their self-esteem.

Identification of families among highly inclined asteroids

Science.gov (United States)

Gil-Hutton, R.

2006-07-01

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

Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

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Daack-Hirsch, Sandra; Shah, Lisa L; Cady, Alyssa D

2018-03-01

Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

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Luciano de Souza Queiroz

1974-03-01

Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman′s syndrome

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S Baldane

2015-01-01

Full Text Available A 35-year-old male patient was admitted with fatigue and muscle weakness. He had been on methimazole due to thyrotoxicosis for 2 weeks. Laboratory tests showed overt hyperthyroidism and hypokalemia. Potassium replacement was started with an initial diagnosis of thyrotoxic hypokalemic periodic paralysis. Later on, despite the euthyroid condition and potassium chloride treatment, hypokalemia persisted. Further investigations revealed hyperreninemic hyperaldosteronism. The patient was considered to have Gitelman′s syndrome (GS and all genetic analysis was done. A c. 1145C>T, p.Thr382Met homozygote missense mutation located on solute carrier family 12, member gene 3, exon 9 was detected and GS was confirmed.

Waardenburg syndrome and myelomeningocele in a family.

Science.gov (United States)

Chatkupt, S; Chatkupt, S; Johnson, W G

1993-01-01

We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1. Images PMID:8423616

Insights into early extracellular matrix evolution: spongin short chain collagen-related proteins are homologous to basement membrane type IV collagens and form a novel family widely distributed in invertebrates.

Science.gov (United States)

Aouacheria, Abdel; Geourjon, Christophe; Aghajari, Nushin; Navratil, Vincent; Deléage, Gilbert; Lethias, Claire; Exposito, Jean-Yves

2006-12-01

Collagens are thought to represent one of the most important molecular innovations in the metazoan line. Basement membrane type IV collagen is present in all Eumetazoa and was found in Homoscleromorpha, a sponge group with a well-organized epithelium, which may represent the first stage of tissue differentiation during animal evolution. In contrast, spongin seems to be a demosponge-specific collagenous protein, which can totally substitute an inorganic skeleton, such as in the well-known bath sponge. In the freshwater sponge Ephydatia mülleri, we previously characterized a family of short-chain collagens that are likely to be main components of spongins. Using a combination of sequence- and structure-based methods, we present evidence of remote homology between the carboxyl-terminal noncollagenous NC1 domain of spongin short-chain collagens and type IV collagen. Unexpectedly, spongin short-chain collagen-related proteins were retrieved in nonsponge animals, suggesting that a family related to spongin constitutes an evolutionary sister to the type IV collagen family. Formation of the ancestral NC1 domain and divergence of the spongin short-chain collagen-related and type IV collagen families may have occurred before the parazoan-eumetazoan split, the earliest divergence among extant animal phyla. Molecular phylogenetics based on NC1 domain sequences suggest distinct evolutionary histories for spongin short-chain collagen-related and type IV collagen families that include spongin short-chain collagen-related gene loss in the ancestors of Ecdyzosoa and of vertebrates. The fact that a majority of invertebrates encodes spongin short-chain collagen-related proteins raises the important question to the possible function of its members. Considering the importance of collagens for animal structure and substratum attachment, both families may have played crucial roles in animal diversification.

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.

Science.gov (United States)

Al-Shibli, Amar; Yusuf, Madinah; Abounajab, Issam; Willems, Patrick J

2014-01-01

Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter syndrome and Gitelman syndrome are autosomal recessive salt-losing tubulopathies with hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia of the juxtaglomerular apparatus, hyperaldosteronism, and, in some patients, hypomagnesemia. Here we describe four patients from an inbred family with a novel missense variant in the CLCNKB gene. All of patients are asymptomatic; yet they have the typical metabolic abnormality of salt losing tubulopathies. One of those patients had hypomagnesaemia while others not. Clinical and laboratory data of all patients was described. All 4 patients have a homozygous c.490G > T missense variant in exon 5 of the CLCNKB gene. This variant alters a glycine into a cysteine on amino acid position 164 of the resulting protein (p.Gly164Cys). The c.490G > T variant is a novel variant not previously described in other patients nor controls. Polyphen analysis predicts the variation to be possibly damaging. Analysis of SLC12A3 was normal. Here in we are describing a novel homozygous c.490G > T missense variation was identified in exon 5 of the CLCNKB gene was identified in an Emirati patients with a mild manifestation of Bartter - Gitelman syndrome.

Abundant general solitary wave solutions to the family of KdV type equations

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Md. Azmol Huda

2017-03-01

Full Text Available This work explores the construction of more general exact traveling wave solutions of some nonlinear evolution equations (NLEEs through the application of the (G′/G, 1/G-expansion method. This method is allied to the widely used (G′/G-method initiated by Wang et al. and can be considered as an extension of the (G′/G-expansion method. For effectiveness, the method is applied to the family of KdV type equations. Abundant general form solitary wave solutions as well as periodic solutions are successfully obtained through this method. Moreover, in the obtained wider set of solutions, if we set special values of the parameters, some previously known solutions are revived. The approach of this method is simple and elegantly standard. Having been computerized it is also powerful, reliable and effective.

Resilience of refugee families

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Batić Dragana

2012-01-01

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

Work Demands and Work-to-Family and Family-to-Work Conflict: Direct and Indirect Relationships

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Voydanoff, Patricia

2005-01-01

This article uses a demands-and-resources approach to examine relationships between three types of work demands and work-to-family and family-to-work conflict: time-based demands, strain-based demands, and boundary-spanning demands. The analysis is based on data from 2,155 employed adults living with a family member who were interviewed for the…

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

Science.gov (United States)

Xu, Wenjun; Dai, Hanjun; Lu, Tingting; Zhang, Xiaohui; Dong, Bing; Li, Yang

2011-01-01

To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. The study included 100 normal Chinese individuals as normal controls. After obtaining informed consent, peripheral blood samples from all participants were collected and genomic DNA was extracted. Genotyping and haplotyping analyses were performed on the known genetic loci for arRP with a panel of polymorphic markers in family FR1. In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. Whenever substitutions were identified in a patient, a restriction fragment length polymorphism (RFLP) analysis, single strand conformation polymorphism (SSCP) analysis, or high resolution melt curve analysis (HRM) was performed on all available family members and on the 100 normal controls. The affected individuals presented with typical fundus features of retinitis pigmentosa (RP), including narrowing of the vessels, bone-spicule pigmentation, and waxy optic discs. The electroretinogram (ERG) wave amplitudes of the available probands were undetectable. Audiometric tests in the affected individuals in family FR1 were normal, while indicating moderate to severe sensorineural hearing impairment in the affected individuals in families F6, F7, and F8. Vestibular function was normal in all patients from all four families. The disease-causing gene in family FR1 was mapped to the USH2A locus on chromosome 1q41. Seven novel mutations (two missenses, one 7-bp deletion, two small deletions, and two nonsenses) were detected in the four families after sequencing analysis of

Bouncing forward: families living with a type I diabetic child | Brown ...

African Journals Online (AJOL)

... Despite the multitude of challenges that families living with a child with diabetes face, they have been found to adapt to such an extent that diabetes is viewed as a manageable condition. This study was concerned with the factors that enable these families to adapt. The internationally acclaimed Resiliency Model of Stress, ...

Evolution of the P-type II ATPase gene family in the fungi and presence of structural genomic changes among isolates of Glomus intraradices

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Sanders Ian R

2006-03-01

Full Text Available Abstract Background The P-type II ATPase gene family encodes proteins with an important role in adaptation of the cell to variation in external K+, Ca2+ and Na2+ concentrations. The presence of P-type II gene subfamilies that are specific for certain kingdoms has been reported but was sometimes contradicted by discovery of previously unknown homologous sequences in newly sequenced genomes. Members of this gene family have been sampled in all of the fungal phyla except the arbuscular mycorrhizal fungi (AMF; phylum Glomeromycota, which are known to play a key-role in terrestrial ecosystems and to be genetically highly variable within populations. Here we used highly degenerate primers on AMF genomic DNA to increase the sampling of fungal P-Type II ATPases and to test previous predictions about their evolution. In parallel, homologous sequences of the P-type II ATPases have been used to determine the nature and amount of polymorphism that is present at these loci among isolates of Glomus intraradices harvested from the same field. Results In this study, four P-type II ATPase sub-families have been isolated from three AMF species. We show that, contrary to previous predictions, P-type IIC ATPases are present in all basal fungal taxa. Additionally, P-Type IIE ATPases should no longer be considered as exclusive to the Ascomycota and the Basidiomycota, since we also demonstrate their presence in the Zygomycota. Finally, a comparison of homologous sequences encoding P-type IID ATPases showed unexpectedly that indel mutations among coding regions, as well as specific gene duplications occur among AMF individuals within the same field. Conclusion On the basis of these results we suggest that the diversification of P-Type IIC and E ATPases followed the diversification of the extant fungal phyla with independent events of gene gains and losses. Consistent with recent findings on the human genome, but at a much smaller geographic scale, we provided evidence

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Science.gov (United States)

Bi, Hongyan; Gao, Yunying; Yao, Sheng; Dong, Mingrui; Headley, Alexander Peter; Yuan, Yun

2007-10-01

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families have previously identified mutations in exons 5, 6 and 13 of this gene. Here we report the clinical, electrophysiological and pathological findings of a proband in a Chinese family with HSAN I. The affected members showed almost typical clinical features. Electrophysiological findings showed an axonal, predominantly sensory, neuropathy with motor and autonomic involvement. Sural nerve biopsy showed loss of myelinated and unmyelinated fibers. SPTLC1 mutational analysis revealed the C133W mutation, a mutation common in British HSAN I families.

Family Environments and Adaptation: A Clinically Applicable Typology.

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Billings, Andrew G.; Moos, Rudolf H.

1982-01-01

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

Cardiovascular Risk in Primary Hyperaldosteronism

NARCIS (Netherlands)

Prejbisz, A.; Warchol-Celinska, E.; Lenders, J.W.M.; Januszewicz, A.

2015-01-01

After the first cases of primary aldosteronism were described and characterized by Conn, a substantial body of experimental and clinical evidence about the long-term effects of excess aldosterone on the cardiovascular system was gathered over the last 5 decades. The prevalence of primary

Cardiovascular Risk in Primary Hyperaldosteronism.

Science.gov (United States)

Prejbisz, A; Warchoł-Celińska, E; Lenders, J W M; Januszewicz, A

2015-12-01

After the first cases of primary aldosteronism were described and characterized by Conn, a substantial body of experimental and clinical evidence about the long-term effects of excess aldosterone on the cardiovascular system was gathered over the last 5 decades. The prevalence of primary aldosteronism varies considerably between different studies among hypertensive patients, depending on patient selection, the used diagnostic methods, and the severity of hypertension. Prevalence rates vary from 4.6 to 16.6% in those studies in which confirmatory tests to diagnose primary aldosteronism were used. There is also growing evidence indicating that prolonged exposure to elevated aldosterone concentrations is associated with target organ damage in the heart, kidney, and arterial wall, and high cardiovascular risk in patients with primary aldosteronism. Therefore, the aim of treatment should not be confined to BP normalization and hypokalemia correction, but rather should focus on restoring the deleterious effects of excess aldosterone on the cardiovascular system. Current evidence convincingly demonstrates that both surgical and medical treatment strategies beneficially affect cardiovascular outcomes and mortality in the long term. Further studies can be expected to provide better insight into the relationship between cardiovascular risk and complications and the genetic background of primary aldosteronism. © Georg Thieme Verlag KG Stuttgart · New York.

Limits for expansion of borders of family and marriage

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A. B. Sinelnikov

2015-01-01

Full Text Available The basic (standard type of family - a married couple with children. Only such families can ensure the survival of the population. Peripheral types of families (childless couples, one parent families are incomplete set of family links, roles and functions. But it’s still a family which can become standard, if childless spouses born children or a single mother get married. Same-sex couples can’t go through this transition and to perform all the functions of the family. This is a new phenomenon that requires a new name that is different from the words of the “marriage” and “family”.

Structures of a bi-functional Kunitz-type STI family inhibitor of serine and aspartic proteases: Could the aspartic protease inhibition have evolved from a canonical serine protease-binding loop?

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Guerra, Yasel; Valiente, Pedro A; Pons, Tirso; Berry, Colin; Rudiño-Piñera, Enrique

2016-08-01

Bi-functional inhibitors from the Kunitz-type soybean trypsin inhibitor (STI) family are glycosylated proteins able to inhibit serine and aspartic proteases. Here we report six crystal structures of the wild-type and a non-glycosylated mutant of the bifunctional inhibitor E3Ad obtained at different pH values and space groups. The crystal structures show that E3Ad adopts the typical β-trefoil fold of the STI family exhibiting some conformational changes due to pH variations and crystal packing. Despite the high sequence identity with a recently reported potato cathepsin D inhibitor (PDI), three-dimensional structures obtained in this work show a significant conformational change in the protease-binding loop proposed for aspartic protease inhibition. The E3Ad binding loop for serine protease inhibition is also proposed, based on structural similarity with a novel non-canonical conformation described for the double-headed inhibitor API-A from the Kunitz-type STI family. In addition, structural and sequence analyses suggest that bifunctional inhibitors of serine and aspartic proteases from the Kunitz-type STI family are more similar to double-headed inhibitor API-A than other inhibitors with a canonical protease-binding loop. Copyright © 2016. Published by Elsevier Inc.

Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes

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Apostolou Ourania

2009-04-01

Full Text Available Abstract Background A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D. The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. Methods A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. Results The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05 and lower LDL-cholesterol levels (115.12 ± 39.76 vs. 127.13 ± 46.53 mg/dl, P = 0.006 than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P 2, P = 0.08, higher prevalence of dyslipidemia (49.8 vs. 44.6%, P = 0.06 and retinopathy (17.9 vs. 14.5%, P = 0.08 compared with patients with no diabetic relatives. No difference in the degree of metabolic control and the prevalence of chronic complications were observed. Conclusion The present study showed an excess maternal transmission of T2D in a sample of Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

Types of Dementia

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... Kids For Teens For Parents & Teachers Resolving Family Conflicts The Holidays and Alzheimer's Glossary Virtual Library Online ... Use Map Selector Search Alzheimer’s Association Alzheimer's & Dementia Types of Dementia Types of Dementia Types of Dementia ...

F-Type Lectins: A Highly Diversified Family of Fucose-Binding Proteins with a Unique Sequence Motif and Structural Fold, Involved in Self/Non-Self-Recognition

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Gerardo R. Vasta

2017-11-01

Full Text Available The F-type lectin (FTL family is one of the most recent to be identified and structurally characterized. Members of the FTL family are characterized by a fucose recognition domain [F-type lectin domain (FTLD] that displays a novel jellyroll fold (“F-type” fold and unique carbohydrate- and calcium-binding sequence motifs. This novel lectin family comprises widely distributed proteins exhibiting single, double, or greater multiples of the FTLD, either tandemly arrayed or combined with other structurally and functionally distinct domains, yielding lectin subunits of pleiotropic properties even within a single species. Furthermore, the extraordinary variability of FTL sequences (isoforms that are expressed in a single individual has revealed genetic mechanisms of diversification in ligand recognition that are unique to FTLs. Functions of FTLs in self/non-self-recognition include innate immunity, fertilization, microbial adhesion, and pathogenesis, among others. In addition, although the F-type fold is distinctive for FTLs, a structure-based search revealed apparently unrelated proteins with minor sequence similarity to FTLs that displayed the FTLD fold. In general, the phylogenetic analysis of FTLD sequences from viruses to mammals reveals clades that are consistent with the currently accepted taxonomy of extant species. However, the surprisingly discontinuous distribution of FTLDs within each taxonomic category suggests not only an extensive structural/functional diversification of the FTLs along evolutionary lineages but also that this intriguing lectin family has been subject to frequent gene duplication, secondary loss, lateral transfer, and functional co-option.

The use of the codes from MCU family for calculations of WWER type reactors

International Nuclear Information System (INIS)

Abagijan, L.P.; Alexeyev, N.I.; Bryzgalov, V.I.; Gomin, E.A.; Glushkov, A.E.; Gorodkov, S.S.; Gurevich, M.I.; Kalugin, M.A.; Marin, S.V.; Shkarovsky, D.A.; Yudkevich, M.S.

2000-01-01

The MCU-RFFI/A and MCU-REA codes developed within the framework of the long term MCU project are widely used for calculations of neutron physic characteristics of WWER type reactors. Complete descriptions of the codes are available in both Russian and English. The codes are verified and validated by means of the comparison of calculated results with experimental data and mathematical benchmarks. The codes are licensed by Russian Nuclear and Criticality Safety Regulatory Body (Gosatomnadzor RF) (Code Passports: N 61 of 17.10.1966 and N 115 of 02.03.2000 accordingly)). The report gives examples of WWER reactor physic tasks important for practice solved using the codes from the MCU family. Some calculational results are given too. (Authors)

The collection of type specimens of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain

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Viñolas, A.

2014-05-01

Full Text Available The type collection of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain, has been organised, revised and documented. It contains 430 type specimens belonging to 155 different taxa. Of note are the large number of hypogean species, the species of Cicindelidae from Asenci Codina’s collection, and the species of Harpalinae extracted from Jacques Nègre’s collection. In this paper we provide all the available information related to these type specimens. We therefore provide the following information for each taxon, species or subspecies: the original and current taxonomic status, original citation of type materials, exact transcription of original labels, and preservation condition of specimens. Moreover, the differences between original descriptions and labels are discussed. When a taxonomic change has occurred, the references that examine those changes are included at the end of the taxa description.

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.

Science.gov (United States)

Bellone, Emilia; Rodolico, Carmelo; Toscano, Antonio; Di Maria, Emilio; Cassandrini, Denise; Pizzuti, Antonio; Pigullo, Simona; Mazzeo, Anna; Macaione, Vincenzo; Girlanda, Paolo; Vita, Giuseppe; Ajmar, Franco; Mandich, Paola

2002-03-01

Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary motor and sensory neuropathy type IIB, also referred as Charcot-Marie-Tooth disease type 2B. To date two loci associated with ulcero-mutilating neuropathy have been described: CMT2B at 3q13-q22 and HSN I at 9q22.1-q22.3. We performed linkage analysis with chromosomal markers representing the hereditary sensory neuropathy type I and Charcot-Marie-Tooth disease type 2B loci on an Italian family with a severe distal sensory loss leading to an ulcero-mutilating peripheral neuropathy. Negative likelihood-of-odds scores excluded any evidence of linkage to both chromosome 3q13 and chromosome 9q22 markers, confirming the genetic heterogeneity of this clinical entity and the presence of a third locus responsible for ulcero-mutilating neuropathies.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

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Hilgert, N; Kahrizi, K; Dieltjens, N; Bazazzadegan, N; Najmabadi, H; Smith, R J H; Van Camp, G

2009-04-01

Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. Mutation analysis of all 90 coding exons of GPR98. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

Family caregiver communication in oncology: advancing a typology.

Science.gov (United States)

Goldsmith, Joy; Wittenberg, Elaine; Platt, Christine Small; Iannarino, Nicholas T; Reno, Jenna

2016-04-01

The quality of communication between the patient and family caregiver impacts quality of life and well-being for the two; however, providers have few tools to understand communication patterns and assess the communication needs and preferences of caregivers. The aims of this study were to examine family communication patterns among oncology patients and their caregivers and to identify common characteristics among four different types of family caregivers. Nurses recruited oncology patient-caregiver dyads through a large cancer treatment center in the Southeast. Patients and caregivers were separated from one another and interviewed during chemotherapeutic infusions. Interviews were recorded, transcribed, coded, and thematized. A sample of 24 patients and their caregivers (n = 48) were interviewed. The majority of dyads (21, 88%) shared the same family communication pattern. Common caregiver communication features support previous work identifying four caregiver communication types: Manager, Carrier, Partner, and Lone caregivers. Manager caregivers lead patients by utilizing extensive medical knowledge, whereas Carrier caregivers were led by patients and described tireless acts to maintain the family and avoid difficult conversations. Partner caregivers facilitated family involvement and open communication on a variety of topics, while Lone caregivers focused solely on biomedical matters and a hope for cure. Caregiver communication types were corroborated by patient-caregiver descriptions of caregiving. However, more information is needed to ascertain the variables associated with each caregiver type. Future work to improve identification of caregiver types and create targeted caregiver care plans will require further study of health literacy levels and tested communication interventions per type. Copyright © 2015 John Wiley & Sons, Ltd.

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

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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.

Type of Violence, Age, and Gender Differences in the Effects of Family Violence on Children's Behavior Problems: A Mega-Analysis

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Sternberg, Kathleen J.; Baradaran, Laila P.; Abbott, Craig B.; Lamb, Michael E.; Guterman, Eva

2006-01-01

A mega-analytic study was designed to exploit the power of a large data set combining raw data from multiple studies (n=1870) to examine the effects of type of family violence, age, and gender on children's behavior problems assessed using the Child Behavior Checklist (CBCL). Our findings confirmed that children who experienced multiple forms of…

A family history of Type 1 alcoholism differentiates alcohol consumption in high cortisol responders to stress.

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Brkic, Sejla; Söderpalm, Bo; Söderpalm Gordh, Anna

2015-03-01

The differentiation between high and low cortisol responders to stress is of interest in determining the risk factors which may, along with genetic vulnerability, influence alcohol intake. Thirty-two healthy volunteers, family history positive to alcoholism (FHP, n = 16) and family history negative (FHN, n = 16) attended two laboratory sessions during which alcohol or placebo was offered. There were no differences in consumption of alcohol or placebo between FHP and FHN subjects. STUDY 2: Fifty-eight healthy social drinkers, FHP (n = 27) and FHN (n = 31) attended two laboratory sessions. They were administered either alcohol or placebo in both sessions they attended. All subjects underwent either a stress task (the Trier Social Stress Test, TSST) or a stress-free period, at two separate occasions, before being offered beverage. After the salivary cortisol analysis, subjects in each group were divided into high (HCR) or low (LCR) cortisol responders. After stress, subjects who were FHP-HCR consumed more alcohol than FHN-HCR. There were no differences in the placebo intake between FHP and FHN subjects regardless of their cortisol response. This result indicates that stress promotes alcohol consumption only in subjects with a family history of Type 1 alcoholism who show an increase in cortisol response to stress. This behaviour is similar to that previously observed in alcohol dependent individuals after stress and thus could represent an endophenotype posing a risk for future development of alcohol use disorders. Copyright © 2015. Published by Elsevier Inc.

Hereditary motor and sensory neuropathy Lom type in a Serbian family.

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Dacković, J; Keckarević-Marković, M; Komazec, Z; Rakocević-Stojanović, V; Lavrnić, D; Stević, Z; Ribarić, K; Romac, S; Apostolski, S

2008-10-01

Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.

Number and Severity of Type 2 Diabetes among Family Members Are Associated with Nutrition and Physical Activity Behaviors

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Ann Oyare Amuta

2017-07-01

Full Text Available AimA binary measurement of type 2 diabetes (T2D has been found not to influence behaviors. We aimed to examine the influence of other measures of family history such as number of relatives, genetic closeness of relatives, and severity of T2D of family members on nutrition and physical activity behaviors among college students.MethodsStudents across four colleges in Texas were sampled. Multiple linear regression models, controlling for covariates, were used to model results. Cross-sectional data were used.ResultsMore number of relatives with T2D was associated with vegetable consumption (β = 0.131, p = 0.007 and exercise (β = 0.129, p = 0.037. Having relatives with severe T2D was associated with vegetable consumption (β = 0.157, p = 0.002 and exercise (β = 106, p = 0.027. Closer genetic relationship with someone with T2D was associated with increased vegetable consumption (β = 0.107, p = 0.023 and exercise (β = 0.096, p = 0.047.ConclusionIt is likely that the severe complications that may accompany the relatives T2D or having an immediate family member living with T2D may in fact motivate other family members without T2D to modify their attitudes, beliefs, and knowledge about T2D, thus encourage health-protective behaviors.

Emerging adults' lived experience of formative family stress: the family's lasting influence.

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Valdez, Carmen R; Chavez, Tom; Woulfe, Julie

2013-08-01

In this article, we use a phenomenology framework to explore emerging adults' formative experiences of family stress. Fourteen college students participated in a qualitative interview about their experience of family stress. We analyzed the interviews using the empirical phenomenological psychology method. Participants described a variety of family stressors, including parental conflict and divorce, physical or mental illness, and emotional or sexual abuse by a family member. Two general types of parallel processes were essential to the experience of family stress for participants. First, the family stressor was experienced in shifts and progressions reflecting the young person's attempts to manage the stressor, and second, these shifts and progressions were interdependent with deeply personal psychological meanings of self, sociality, physical and emotional expression, agency, place, space, project, and discourse. We describe each of these parallel processes and their subprocesses, and conclude with implications for mental health practice and research.

ngs (Notochord Granular Surface) Gene Encodes a Novel Type of Intermediate Filament Family Protein Essential for Notochord Maintenance in Zebrafish*

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Tong, Xiangjun; Xia, Zhidan; Zu, Yao; Telfer, Helena; Hu, Jing; Yu, Jingyi; Liu, Huan; Zhang, Quan; Sodmergen; Lin, Shuo; Zhang, Bo

2013-01-01

The notochord is an important organ involved in embryonic patterning and locomotion. In zebrafish, the mature notochord consists of a single stack of fully differentiated, large vacuolated cells called chordocytes, surrounded by a single layer of less differentiated notochordal epithelial cells called chordoblasts. Through genetic analysis of zebrafish lines carrying pseudo-typed retroviral insertions, a mutant exhibiting a defective notochord with a granular appearance was isolated, and the corresponding gene was identified as ngs (notochord granular surface), which was specifically expressed in the notochord. In the mutants, the notochord started to degenerate from 32 hours post-fertilization, and the chordocytes were then gradually replaced by smaller cells derived from chordoblasts. The granular notochord phenotype was alleviated by anesthetizing the mutant embryos with tricaine to prevent muscle contraction and locomotion. Phylogenetic analysis showed that ngs encodes a new type of intermediate filament (IF) family protein, which we named chordostatin based on its function. Under the transmission electron microcopy, bundles of 10-nm-thick IF-like filaments were enriched in the chordocytes of wild-type zebrafish embryos, whereas the chordocytes in ngs mutants lacked IF-like structures. Furthermore, chordostatin-enhanced GFP (EGFP) fusion protein assembled into a filamentous network specifically in chordocytes. Taken together, our work demonstrates that ngs encodes a novel type of IF protein and functions to maintain notochord integrity for larval development and locomotion. Our work sheds light on the mechanisms of notochord structural maintenance, as well as the evolution and biological function of IF family proteins. PMID:23132861

ngs (notochord granular surface) gene encodes a novel type of intermediate filament family protein essential for notochord maintenance in zebrafish.

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Tong, Xiangjun; Xia, Zhidan; Zu, Yao; Telfer, Helena; Hu, Jing; Yu, Jingyi; Liu, Huan; Zhang, Quan; Sodmergen; Lin, Shuo; Zhang, Bo

2013-01-25

The notochord is an important organ involved in embryonic patterning and locomotion. In zebrafish, the mature notochord consists of a single stack of fully differentiated, large vacuolated cells called chordocytes, surrounded by a single layer of less differentiated notochordal epithelial cells called chordoblasts. Through genetic analysis of zebrafish lines carrying pseudo-typed retroviral insertions, a mutant exhibiting a defective notochord with a granular appearance was isolated, and the corresponding gene was identified as ngs (notochord granular surface), which was specifically expressed in the notochord. In the mutants, the notochord started to degenerate from 32 hours post-fertilization, and the chordocytes were then gradually replaced by smaller cells derived from chordoblasts. The granular notochord phenotype was alleviated by anesthetizing the mutant embryos with tricaine to prevent muscle contraction and locomotion. Phylogenetic analysis showed that ngs encodes a new type of intermediate filament (IF) family protein, which we named chordostatin based on its function. Under the transmission electron microcopy, bundles of 10-nm-thick IF-like filaments were enriched in the chordocytes of wild-type zebrafish embryos, whereas the chordocytes in ngs mutants lacked IF-like structures. Furthermore, chordostatin-enhanced GFP (EGFP) fusion protein assembled into a filamentous network specifically in chordocytes. Taken together, our work demonstrates that ngs encodes a novel type of IF protein and functions to maintain notochord integrity for larval development and locomotion. Our work sheds light on the mechanisms of notochord structural maintenance, as well as the evolution and biological function of IF family proteins.

Social psychological-pedagogical support of singleparent family

Directory of Open Access Journals (Sweden)

Ruslana Kazhuk

2018-01-01

Full Text Available The article deals with the definition of the concept of "incomplete family", describes the typology of single-parent families, the necessity of special social psychological and pedagogical support for children from such families and their parents has been proved. The analysis of various concepts of ―support‖has been made. The idea of psychological and pedagogical support of modern incomplete families has been determined. Key words: incomplete family, types of single-parent families, support, social support, psychological and pedagogical support of single-parent families.

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

Science.gov (United States)

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

2016-03-01

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

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…

Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

Science.gov (United States)

Kashtan, C; Fish, A J; Kleppel, M; Yoshioka, K; Michael, A F

1986-10-01

We probed epidermal basement membranes (EBM) of acid-urea denatured skin from members of kindreds with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) nephritis in a renal allograft. By immunoblotting, GPS reacted primarily with the 28,000 molecular weight (mol wt) monomer but also the 24,000 mol wt and 26,000 mol wt monomers of the noncollagenous globular domain (NC1) of type IV collagen from normal human GBM, while FNS identified only the 26,000-mol wt monomer. FNS reacted with EBM of 12 controls and nine unaffected male kindred members but not EBM of eight affected males. Five affected females exhibited interrupted reactivity of FNS with EBM. GPS showed variable reactivity with EBM and was not discriminating with respect to Alport-type FN. FNS did not stain renal basement members of five affected males. However, the EBM, tubular basement membrane, and Bowman's capsules of affected males contained antigens reactive with GPS. These immunochemical studies suggest that the FNS antigen is distinct from Goodpasture antigen(s). The expression of FNS antigen located on the NC1 domain of type IV collagen is altered in basement membranes of patients with Alport-type FN, and the distribution of this antigenic anomaly within kindreds suggests X-linked dominant transmission of a defective gene.

Relationship between family history of type 2 diabetes and serum FGF21.

Science.gov (United States)

Davis, Greggory R; Deville, Tiffany; Guillory, Joshua; Bellar, David; Nelson, Arnold G

2017-11-01

Determining predictive markers for the development of type 2 diabetes (T2D), particularly in young individuals, offers immense potential benefits in preventative medicine. Previous research examining serum fibroblast growth factor 21 (FGF21) in humans has revealed equivocal relationships with clinical markers of metabolic dysfunction. However, it is unknown to what extent, if any, first-degree family history of T2D (mother or father of the participant diagnosed with T2D) level affects serum FGF21 levels. The aim of this study was to determine whether in healthy individuals with FH+ (n = 18) and without FH- (n = 17) a family history of T2D affects serum FGF21. Fasting serum and clinical, metabolic and anthropometric measures were determined using a cross-sectional design. Differences between groups for FGF21 were not significant (FH+ = 266 pg/mL ± 51·4, FH = 180 pg/mL ± 29; Z = 0·97, P = 0·33). Adiponectin values were lower in FH+ (8·81 μg/mL ± 2·14) compared to FH- (10·65 μg/mL ± 1·44; F = 8·83, P = 0·01). Resistin was negatively correlated with FGF21 for all participants (r = -0·38, P = 0·03), but no other clinical, metabolic, or serum markers were predictive for serum FGF21 in FH+ or FH-. Serum FGF21 is not significantly different between FH+ and FH- in young, healthy individuals. Based upon the data of this pilot study, it is unclear whether serum FGF21 can be used as a stand-alone predictive marker for T2D in healthy subjects. © 2017 Stichting European Society for Clinical Investigation Journal Foundation.

Use of family-friendly work arrangements and work-family conflict: Crossover effects in dual-earner couples.

Science.gov (United States)

Schooreel, Tess; Verbruggen, Marijke

2016-01-01

This study uses a dyadic approach to examine how an employee's work-family conflict is affected when his or her partner makes use of family-friendly work arrangements. We focused on 2 types of family-friendly practices, that is, reduced work hours and schedule or workplace flexibility. Hypotheses were tested with multilevel structural equation modeling using information of 186 dual-earner couples. In line with our hypotheses, we found support for both a positive and a negative crossover effect, though the results showed differences between the 2 types of family-friendly work arrangements. First, a positive crossover effect was found for both reduced work hours and schedule or workplace flexibility; however, the specific mechanisms explaining this effect differed per type of arrangements. In particular, employees whose partner made use of reduced work hours were found to experience less home demands, which was in turn associated with lower family-to-work conflict, whereas employees whose partner made use of schedule or workplace flexibility experienced a similar positive crossover effect but through an increase in the social support they perceived. Second, a negative crossover effect was found only for reduced work hours and not for schedule or workplace flexibility. Specifically, employees whose partner made use of reduced work hours were found to work on average more hours a week, which was in turn related with more work-to-family conflict, whereas employees whose partner made use of schedule or workplace flexibility worked on average fewer hours a week and consequently experienced lower work-to-family conflict. Implications for literature and practice are discussed. (c) 2016 APA, all rights reserved).

The Stigma of Families with Mental Illness

Science.gov (United States)

Larson, Jon E.; Corrigan, Patrick

2008-01-01

Objective: This article describes family stigma, which is defined as the prejudice and discrimination experienced by individuals through associations with their relatives. Methods: The authors describe family stigma and present current research related to mental illness stigma experienced by family members. Research indicates this type of stigma…

Work-Family Balance: Perspectives from Higher Education

Science.gov (United States)

Pillay, Soma; Abhayawansa, Subhash

2014-01-01

The article examines different types of work-family pressures amongst people working within the Australian university sector. We were specifically interested in work-family experiences between domestic and migrant Australians. Among the major findings, domestic Australians experience greater levels of work-family imbalance across most of the…

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

Science.gov (United States)

Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei

2011-12-20

Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. Copyright © 2011. Published by Elsevier Ltd.

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

Science.gov (United States)

Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

2017-01-27

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.

Type A radioactive liquid sample packaging family

International Nuclear Information System (INIS)

Edwards, W.S.

1995-11-01

Westinghouse Hanford Company (WHC) has developed two packagings that can be used to ship Type A quantities of radioactive liquids. WHC designed these packagings to take advantage of commercially available items where feasible to reduce the overall packaging cost. The Hedgehog packaging can ship up to one liter of Type A radioactive liquid with no shielding and 15 cm of distance between the liquid and the package exterior, or 30 ml of liquid with 3.8 cm of stainless steel shielding and 19 cm of distance between the liquid and the package exterior. The One Liter Shipper can ship up to one liter of Type A radioactive liquid that does not require shielding

Too close and too rigid: applying the Circumplex Model of Family Systems to first-generation family firms.

Science.gov (United States)

Michael-Tsabari, Nava; Lavee, Yoav

2012-06-01

Despite growing research interest in family businesses, little is known about the characteristics of the families engaging in them. The present paper uses Olson's (Journal of Psychotherapy & the Family, 1988, 4(12), 7-49; Journal of Family Therapy, 2000, 22, 144-167) Circumplex Model of Marital and Family Systems to look at first-generation family firms. We describe existing typologies of family businesses and discuss similarities between the characteristics of first-generation family firms and the rigidly enmeshed family type described in the Circumplex Model. The Steinberg family business (Gibbon & Hadekel (1990) Steinberg: The breakup of a family empire. ON, Canada: MacMillan) serves to illustrate the difficulties of rigidly enmeshed first-generation family firms. Implications for understanding troubled family businesses are discussed together with guidelines for the assessment of a family business in crisis and for intervention: enhancing open communication; allowing for more flexible leadership style, roles, and rules; and maintaining a balance between togetherness and separateness. © 2012 American Association for Marriage and Family Therapy.

Impact of Education on Disease Knowledge and Glycaemic Control Among Type 2 Diabetic Patients in Family Practice

Directory of Open Access Journals (Sweden)

Samira Herenda

2007-08-01

Full Text Available In patients with diabetes type 2, good knowledge about disease often doesn’t follow appropriate behavior in their life. Therefore, we wanted to find out basic level of disease knowledge and glycemic control among type 2 diabetic patients, and after that impact of passive and intensive education on knowledge and glycemic control. Starting with 130 participants, 91 patients with type 2 diabetes, from four family medicine services in Tuzla Canton, completed six months education about their disease. Disease Knowledge Test of Michigan Diabetes Training and Research Center was used to evaluate knowledge about diabetes and glycaemic control was assessed by HbAic. Participants were tested at the beginning of survey, after 3 months of passive education and additional 3 months of intensive one. Basic test showed good knowledge of participants (score 8,3 out of 15, improved knowledge after passive education (score 9,23 and intensive one (11,19 (P<0,0001. Demographic characteristics of patients (age, sex, living area, level of education, duration of disease and type of treatment had no influence on disease knowledge and glycaemic control during education. Generally, patient education improved significantly glycaemic control by HbA1c reduction 0,45% (P=0,011 without significant differences between passive and intensive one. Education of patients improves both disease knowledge and glycaemic control among type 2 diabetic patients.

Indsigter og udfordringer i danske Lynch-syndrom-familier

DEFF Research Database (Denmark)

Therkildsen, Christina; Timshel, Susanne; Nilbert, Mef

2008-01-01

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

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

The Relationship between Family Environment and Parenting Style: A Preliminary Study of African American Families.

Science.gov (United States)

Hill, Nancy E.

1995-01-01

The influence of parenting style on aspects of family environment was studied with 174 9th graders, 11th graders and college freshmen (96% African American). Findings demonstrate that types of parenting styles are significantly related to outcome measures of family environment as predicted. Implications of authoritative parenting among blacks are…

The Development of Sex Role Stereotypes in the Third Year: Relationships to Gender Labeling, Gender Identity, Sex-Typed Toy Preference, and Family Characteristics.

Science.gov (United States)

Weinraub, Marsha; And Others

1984-01-01

The onset and development of preschoolers' awareness of sex role stereotypes, gender labeling, gender identity, and sex-typed toy preference were explored in 26-, 31-, and 36-month-old children. Family characteristics that affect early sex role development also were investigated. (Author/RH)

Attitudes toward Assisted Suicide: Does Family Context Matter?

Science.gov (United States)

Frey, Laura M; Hans, Jason D

2016-01-01

Little is known about how family-related contextual variables impact attitudes toward assisted suicide. A probability sample (N = 272) responded to a multiple-segment factorial vignette designed to examine the effects of 6 variables-patient sex, age, type of illness, relationship status, parenthood status, and family support-on attitudes toward physician- and family-assisted suicide. Respondents were more likely to support physician-assisted suicide if they heard about an older patient or a patient experiencing physical pain than a younger patient or one suffering from depression, respectively. For family-assisted suicide, respondent support was higher when the patient had physical pain than depression, and when the patient's spouse or friend was supportive of the wish to die than unsupportive. Attitudes about physician and family obligation to inform others were affected by type of illness, relationship status, family support, and respondent education and religiosity. The experience of pain, motivations for family involvement, confidentiality issues, and physicians' biases concerning assisted suicide are discussed.

A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

Directory of Open Access Journals (Sweden)

V. P. Fedotov

2015-01-01

Full Text Available Hereditary motor-sensory neuropathy (MIM 118200 is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode of inheritance. The combination of two rare autosomal dominant diseases, affecting bone and peripheral nervous system in a pair of monozygotic twins and their father in one family, belongs to a unique clinical observations: since early childhood twins presented sharp reduction of the conduction velocity in all investigated motor nerves (>10 times together with multiple exostosis bone, confirmed by x-ray with a relatively benign course. Similar manifestations were detected in the patients father. DNA analysis confirmed the presence of 2 separate mutations in 2 different genes, с.389А>G/N gene MPZ and c.678С>А/N EXT2 gene that was inherited autosomal dominant manner, independently of each members of the same family.

[Structure and Family Type in Patients With Substance Abuse or Dependence Psychoactive Rehabilitation Center of Addiction in the Municipality of Chia Cundinamarca].

Science.gov (United States)

Vargas Navarro, Pedro; Parra Vera, Mario Danilo; Arévalo Zamora, Caterín; Cifuentes Gaitán, Luisa Karen; Valero Carvajal, Jaime; Sierra de Jaramillo, Margarita

2015-01-01

To determine the family type, family structure in a group of patients with a diagnosis of substance abuse or dependence who were at a rehabilitation center for addiction during the period between August and October 2009. Through a descriptive qualitative-interpretative methodology 10 patients who met inclusion criteria for substance dependence or abuse were studied. The fieldwork and transcripts were made for three months by non-participant observation, non-structured interviews and examination of patients' clinical history. Seven of the families interviewed were single-parent families with an unconventional organization on "gender roles". Single-parent families favored loneliness, difficulty in rule-setting, de-idealization of the place of the father in the family structure and a constant search for complicity. In the analysis by categories, we found that in 10 families in the study of individuals with addictions it is common to find family structure characteristics such as inadequate communication, lack of authority rules and limits, presence of triangulations, the lack of cohesion due to the existence of a disconnected relationship pattern and changed roles compared to conventional gender. The search for the affection of the mother at her emotional overload absence of roles and lack of father, raised by the separation of the couple, was found as an essential aspect underlying the addictive behavior. A pattern of parental abandonment is configured. The findings confirmed what has been mentioned by various authors regarding the characteristics of the family typology structure and personal factors in patients with addictions, in addition to their need for affection combined with the desire for the mother's presence. The family typology does not determine for itself the abuse of psychoactive substances, but the influence of other factors such as family structure, especially deficient affective interactions, which should be considered in the development of

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).

Family Structure Experiences and Child Socioemotional Development During the First Nine Years of Life: Examining Heterogeneity by Family Structure at Birth

Science.gov (United States)

Berger, Lawrence M.

2018-01-01

A vast amount of literature has documented negative associations between family instability and child development, with the largest associations being in the socioemotional (behavioral) domain. Yet, prior work has paid limited attention to differentiating the role of the number, types, and sequencing of family transitions that children experience, as well as to understanding potential heterogeneity in these associations by family structure at birth. We use data from the Fragile Families and Child Wellbeing Study and hierarchical linear models to examine associations of family structure states and transitions with children’s socioemotional development during the first nine years of life. We pay close attention to the type and number of family structure transitions experienced and examine whether associations differ depending on family structure at birth. For children born to cohabiting or noncoresident parents, we find little evidence that subsequent family structure experiences are associated with socioemotional development. For children born to married parents, we find associations between family instability and poorer socioemotional development. However, this largely reflects the influence of parental breakup; we find little evidence that socioemotional trajectories differ for children with various family structure experiences subsequent to their parents’ breakup. PMID:28299560

Family Structure Experiences and Child Socioemotional Development During the First Nine Years of Life: Examining Heterogeneity by Family Structure at Birth.

Science.gov (United States)

Bzostek, Sharon H; Berger, Lawrence M

2017-04-01

A vast amount of literature has documented negative associations between family instability and child development, with the largest associations being in the socioemotional (behavioral) domain. Yet, prior work has paid limited attention to differentiating the role of the number, types, and sequencing of family transitions that children experience, as well as to understanding potential heterogeneity in these associations by family structure at birth. We use data from the Fragile Families and Child Wellbeing Study and hierarchical linear models to examine associations of family structure states and transitions with children's socioemotional development during the first nine years of life. We pay close attention to the type and number of family structure transitions experienced and examine whether associations differ depending on family structure at birth. For children born to cohabiting or noncoresident parents, we find little evidence that subsequent family structure experiences are associated with socioemotional development. For children born to married parents, we find associations between family instability and poorer socioemotional development. However, this largely reflects the influence of parental breakup; we find little evidence that socioemotional trajectories differ for children with various family structure experiences subsequent to their parents' breakup.

Work-family conflict and employee psychiatric disorders: the National Comorbidity Survey.

Science.gov (United States)

Frone, M R

2000-12-01

This study examined the relation between work-family conflict and several types of psychiatric disorders: mood, anxiety, substance dependence, and substance abuse. Survey data were obtained from a representative national sample of 2,700 employed adults who were either married or the parent of a child 18 years old or younger. Hierarchical logistic regression analyses revealed that both work-to-family and family-to-work conflict were positively related to having a mood, anxiety, and substance dependence disorder. Depending on the type of work-family conflict and type of disorder, employees who reported experiencing work-family conflict often were 1.99-29.66 times more likely than were employees who reported no work-family conflict to experience a clinically significant mental health problem. No support was found for gender differences.

Effect of KCNJ5 Mutations on Gene Expression in Aldosterone-Producing Adenomas and Adrenocortical Cells

Science.gov (United States)

Monticone, Silvia; Hattangady, Namita G.; Nishimoto, Koshiro; Mantero, Franco; Rubin, Beatrice; Cicala, Maria Verena; Pezzani, Raffaele; Auchus, Richard J.; Ghayee, Hans K.; Shibata, Hirotaka; Kurihara, Isao; Williams, Tracy A.; Giri, Judith G.; Bollag, Roni J.; Edwards, Michael A.; Isales, Carlos M.

2012-01-01

Context: Primary aldosteronism is a heterogeneous disease that includes both sporadic and familial forms. A point mutation in the KCNJ5 gene is responsible for familial hyperaldosteronism type III. Somatic mutations in KCNJ5 also occur in sporadic aldosterone producing adenomas (APA). Objective: The objective of the study was to define the effect of the KCNJ5 mutations on gene expression and aldosterone production using APA tissue and human adrenocortical cells. Methods: A microarray analysis was used to compare the transcriptome profiles of female-derived APA samples with and without KCNJ5 mutations and HAC15 adrenal cells overexpressing either mutated or wild-type KCNJ5. Real-time PCR validated a set of differentially expressed genes. Immunohistochemical staining localized the KCNJ5 expression in normal adrenals and APA. Results: We report a 38% (18 of 47) prevalence of KCNJ5 mutations in APA. KCNJ5 immunostaining was highest in the zona glomerulosa of NA and heterogeneous in APA tissue, and KCNJ5 mRNA was 4-fold higher in APA compared with normal adrenals (P APA with and without KCNJ5 mutations displayed slightly different gene expression patterns, notably the aldosterone synthase gene (CYP11B2) was more highly expressed in APA with KCNJ5 mutations. Overexpression of KCNJ5 mutations in HAC15 increased aldosterone production and altered expression of 36 genes by greater than 2.5-fold (P APA, and our data suggest that these mutations increase expression of CYP11B2 and NR4A2, thus increasing aldosterone production. PMID:22628608

Tension type headaches: a review | Magazi | South African Family ...

African Journals Online (AJOL)

South African Family Practice. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 57, No 1 (2015) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should ...

[Child abuse in the family].

Science.gov (United States)

De Almeida, Helena Nunes; André, Isabel Margarida; De Almeida, Ana Nunes

2002-01-01

The objective of this study is to carry out a current survey of the situation of child abuse in the family. It is based on a national survey conducted in 1996, which was addressed to childcare professionals (in the areas of health, education and social services). This survey was based, on the one hand, on a wide-ranging definition of child abuse, including within it not just active forms of physical and psychic violence against the child, but also forms of (both material and affective) privation, omission or negligence which affect the child's growth and development. On the other hand, this study also favoured a contextual approach to child abuse. 1,126 institutions in Portugal were contacted and 755 valid survey responses were received. This report outlines some of the results obtained, namely by providing a description of the sample of the 755 child abuse victims, the respective social and family contexts to which they and the aggressors belong, as well as the types of abuse which have been committed against them; and a typology of forms of abuse and negligence, describing not just the internal aspects that make up child abuse directly, but also its relationship to the child's social and family contexts of belonging. The typology was derived from the statistical handling of the data gathered (factorial analysis of multiple matches, followed by a hierarchical analysis into clusters). A number of key concepts are summarised in the conclusion. Children of all age groups and of both sexes, and from all types of families and social backgrounds, regardless of their place in the phratry, are subject to abuse in Portugal. But different types of abuse and negligence are associated with the contexts to which the children and their families belong. Healthcare professionals are irreplaceable when it comes to detecting the wide variety of types of child abuse, and are an essential look-out post for two types of abuse which often slip through the net of other professionals

Family Structure Transitions and Child Development: Instability, Selection, and Population Heterogeneity.

Science.gov (United States)

Lee, Dohoon; McLanahan, Sara

2015-08-01

A growing literature documents the importance of family instability for child wellbeing. In this article, we use longitudinal data from the Fragile Families and Child Wellbeing Study to examine the impacts of family instability on children's cognitive and socioemotional development in early and middle childhood. We extend existing research in several ways: (1) by distinguishing between the number and types of family structure changes; (2) by accounting for time-varying as well as time-constant confounding; and (3) by assessing racial/ethnic and gender differences in family instability effects. Our results indicate that family instability has a causal effect on children's development, but the effect depends on the type of change, the outcome assessed, and the population examined. Generally speaking, transitions out of a two-parent family are more negative for children's development than transitions into a two-parent family. The effect of family instability is stronger for children's socioemotional development than for their cognitive achievement. For socioemotional development, transitions out of a two-parent family are more negative for white children, whereas transitions into a two-parent family are more negative for Hispanic children. These findings suggest that future research should pay more attention to the type of family structure transition and to population heterogeneity.

Work-Family Conflict within the Family: Crossover Effects, Perceived Parent-Child Interaction Quality, Parental Self-Efficacy, and Life Role Attributions

Science.gov (United States)

Cinamon, Rachel Gali; Weisel, Amatzia; Tzuk, Kineret

2007-01-01

To better understand the work-family interface within the family domain, this study investigated crossover effects of two types of work-family conflict among 120 participants (60 married couples), these conflicts' relations with parental self-efficacy and perceived quality of parent-child interaction, and the contribution of attributions of…

Blood sampling from adrenal gland vein

International Nuclear Information System (INIS)

Sun Yong; Ni Caifang

2009-01-01

Adrenal gland vein sampling is an interventional method to get the blood samples from the adrenal gland vein. The blood is obtained via a catheter which is selectively inserted in the adrenal gland vein. This technique is mainly used to be diagnostic for primary hyperaldosteronism. A full knowledge of the anatomy and variations of the adrenal gland vein, serious preoperative preparation and skilled catheterization manipulation are necessary for obtaining sufficient blood sample and for reducing the occurrence of complications. Providing the physicians with definite diagnostic evidence and being technically feasible, adrenal gland vein sampling should become one of the routine examinations for clarifying the cause of primary hyperaldosteronism. (authors)

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

Science.gov (United States)

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

2011-01-01

A major objective of tree improvement programs is to identify genotypes that will perform well in operational deployments. Relatively little is known, however, about how the competitive environment affects performance in different types of deployments. We tested whether the genetic composition and density of deployments affect the performance of full-sib families of...

[Medical and social condition of families of patients with multiple sclerosis].

Science.gov (United States)

Lugovtsova, Y A; Karnaukh, V N

2015-01-01

To analyze the medical and social condition of 70 families having a member with multiple sclerosis of working age. We used the classification of types and kinds of families of chronically ill patients of working-age that included two sections - grouping families by health and social status. By medical condition, most families are assessed as dysfunctional II degree, by welfare as at risk families. Both health and social status of the family depends on a number of social factors as well as the clinical characteristics of the disease, in particular, type of disease course and severity of neurological deficit.

The Relationship Between Perceived Family Climate and Glycemic Control in Type 1 Diabetes Mellitus Adolescent Patients.

Science.gov (United States)

Eray, Şafak; Uçar, Halit Necmi; Çetinkaya, Fatma; Eren, Erdal; Vural, Pınar

2017-09-01

Type 1 diabetes mellitus (T1DM) is a chronic disease which ranks third in children under age 16 years. Expressed emotion (EE) is a term that indicates a specific family climate including lack of emotional support (LES), irritability, and emotional over-involvement. It is known that the family environment is highly important for glycemic control in diabetic adolescents. In this study, the relationship between perceived EE and glycemic control in adolescents diagnosed with T1DM not accompanied by psychopathology were investigated. The study included 49 adolescents with T1DM and 50 adolescents as a control group. Adolescents with psychopathology and intellectual disability were excluded from the study. Perceived EE was measured by the Shortened Level of Expressed Emotion Scale (SLEES) and blood sugar regulation was assessed by HbA1c levels. The adolescents with T1DM showed a significant difference in perceived EE (p=0.020) and LES (p=0.014) when compared with the control group. When diabetic adolescents were compared among themselves, the diabetic adolescents with poor glycemic control perceived greater EE (p=0.033) and less emotional support (p=0.049). In regression analyses, the predictive power of mother's educational level, the employment status of mothers and the subscale "LES" of SLEES combined to explain HbA1c level was determined to be 37.8%. The strong relationship between perceived EE and glycemic control showed us that perceived EE can hinder treatment compliance without causing psychopathology. For this reason, it is recommended that not only patients with psychopathology, but all diabetic adolescents receive psychosocial support and family interventions.

System Characteristics and Original Type Features of Chinese Huqin Family Instrument%中国胡琴族乐器的系统类型与原生型特征

Institute of Scientific and Technical Information of China (English)

王欣

2015-01-01

Combined with brief characteristics of different types of instruments, Chinese huqin family instruments were divided into three types. This article describes their respective shape of holding, placing, and playing the instruments. Meanwhile, through meticulous combing for the Chinese Huqin family instruments, the writer summarizes and extracts two types of Chinese Huqin instrument of family - membrane surface vibration system and plate surface vibration system.%结合不同种类乐器的简要特征，将中国胡琴族乐器划分为板箱型、颈箱型和颈杆型，并介绍其各自相应的持琴、置放、演奏形态。同时，通过对中国胡琴族乐器的细致梳理，总结并提炼出中国胡琴族乐器的两种类型——膜面振动系统和板面振动系统。

Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3

Science.gov (United States)

Sieni, Elena; Cetica, Valentina; Santoro, Alessandra; Beutel, Karin; Mastrodicasa, Elena; Meeths, Marie; Ciambotti, Benedetta; Brugnolo, Francesca; zur Stadt, Udo; Pende, Daniela; Moretta, Lorenzo; Griffiths, Gillian M; Henter, Jan-Inge; Janka, Gritta; Aricò, Maurizio

2014-01-01

Background Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898). Objective To carry out a genotype–phenotype study of patients with FHL3. Methods A consortium of three countries pooled data on presenting features and mutations from individual patients with biallelic UNC13D mutations in a common database. Results 84 patients with FHL3 (median age 4.1 months) were reported from Florence, Italy (n=54), Hamburg, Germany (n=18), Stockholm, Sweden (n=12). Their ethnic origin was Caucasian (n=57), Turkish (n=10), Asian (n=7), Hispanic (n=4), African (n=3) (not reported (n=3)). Thrombocytopenia was present in 94%, splenomegaly in 96%, fever in 89%. The central nervous system (CNS) was involved in 49/81 (60%) patients versus 36% in patients with FHL2 (p=0.001). A combination of fever, splenomegaly, thrombocytopenia and hyperferritinaemia was present in 71%. CD107a expression, NK activity and Munc 13-4 protein expression were absent or reduced in all but one of the evaluated patients. 54 different mutations were observed, including 15 new ones: 19 missense, 14 deletions or insertions, 12 nonsense, nine splice errors. None was specific for ethnic groups. Patients with two disruptive mutations were younger than patients with two missense mutations (p<0.001), but older than comparable patients with FHL2 (p=0.001). Conclusion UNC13D mutations are scattered over the gene. Ethnic-specific mutations were not identified. CNS involvement is more common than in FHL2; in patients with FHL3 and disruptive mutations, age at diagnosis is significantly higher than in FHL2. The combination of fever, splenomegaly, thrombocytopenia and hyperferritinaemia appears to be the most easily and frequently recognised clinical pattern and their association with defective granule release assay may herald FHL3. PMID:21248318

Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I

Directory of Open Access Journals (Sweden)

MCH Janssen

2014-06-01

Full Text Available We report three adult sibs (one female, two males with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A>G, c.1154C>T. These results reinforce the notion that abnormal metabolite levels in newborns may lead to the diagnosis of adult metabolic disease in the mother and potentially other family members.

Family migration and relative earnings potentials

DEFF Research Database (Denmark)

Foged, Mette

2016-01-01

of husband centered migration. Couples are more likely to migrate if household earnings potential is disproportionally due to one partner, and families react equally strongly to a male and a female relative advantage in educational earnings potential. These results are driven by households with a strong......A unitarian model of family migration in which families may discount wives’ private gains is used to derive testable predictions regarding the type of couples that select into migrating. The empirical tests show that gender neutral family migration cannot be rejected against the alternative...

Familial Influences on Dating Violence Victimization Among Latino Youth.

Science.gov (United States)

Reyes, H Luz McNaughton; Foshee, Vangie A; Klevens, Joanne; Tharp, Andra Teten; Chapman, Mimi V; Chen, May S; Ennett, Susan T

2016-01-01

Despite theoretical and empirical evidence suggesting that the family environment plays a central role in Latino youth development, relatively little is known about how family processes influence dating violence victimization among Latino adolescents. To address this gap in the literature, we used data from 210 Latino parents and their 13- to 15-year-old adolescents to examine associations between several different family processes, including both parenting practices (parent monitoring, parent-adolescent communication) and aspects of the family relational climate (family cohesion, family conflict, acculturation conflict) and psychological, physical, and sexual dating violence victimization. Consistent with expectations, lower levels of family cohesion and higher levels of family and acculturation conflict were associated with risk for dating violence victimization, although associations varied depending on victimization type. In contrast, neither parental monitoring nor parent-adolescent communication was significantly associated with any type of dating violence victimization. In addition, we found that parent, but not teen, Anglo-American acculturation was associated with higher dating violence victimization risk. Findings suggest that family-based dating abuse prevention programs for Latino youth should seek to increase family cohesion and decrease family conflict, including acculturation-based conflict.

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).

Science.gov (United States)

Attaie, A; Kim, E; Wilcox, E R; Lalwani, A K

1997-06-01

Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developmental defects, is the most frequent form of congenital deafness in humans. Mutations in the PAX3 gene, a transcription factor expressed during embryonic development, is associated with WS types I and III. Here we report the identification of a novel acceptor splice site mutation (86-2 A-->G) in the paired domain of the human PAX3 gene causing WS type I in a three generation family.

Familism, Family Environment, and Suicide Attempts among Latina Youth

Science.gov (United States)

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

2011-01-01

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

Family Genericity

DEFF Research Database (Denmark)

Ernst, Erik

2006-01-01

Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

Science.gov (United States)

Shi, Yunfang; Li, Xiaozhou; Ju, Duan; Li, Yan; Zhang, Xiuling; Zhang, Ying

2016-04-01

Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 ( PAX3 ), microphthalmia-associated transcription factor ( MITF ), endothelin 3 ( END3 ), endothelin receptor type B ( EDNRB ), SRY (sex determining region Y)-box 10 ( SOX10 ) and snail homolog 2 ( SNAI2 )] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous MITF mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.

[Effects of family cohesion and adaptability on behavioral problems in preschool children].

Science.gov (United States)

Wang, Yan-Ni; Xue, Hong-Li; Chen, Qian

2016-05-01

To investigate the effects of family cohesion and adaptability on behavioral problems in preschool children. The stratified cluster multistage sampling method was used to perform a questionnaire survey in the parents of 1 284 children aged 3-6 years in the urban area of Lanzhou, China. The general status questionnaire, Conners Child Behavior Checklist (Parent Symptom Question), and Family Adaptability and Cohesion Scale, Second edition, Chinese version (FACESII-CV) were used to investigate behavioral problems and family cohesion and adaptability. The overall detection rate of behavioral problems in preschool children was 17.13%. The children with different types of family cohesion had different detection rates of behavioral problems, and those with free-type family cohesion showed the highest detection rate of behavioral problems (40.2%). The children with different types of family adaptability also had different detection rates of behavioral problems, and those with stiffness type showed the highest detection rate of behavioral problems (25.1%). The behavioral problems in preschool children were negatively correlated with family cohesion and adaptability. During the growth of preschool children, family cohesion and adaptability have certain effects on the mental development of preschool children.

Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

Directory of Open Access Journals (Sweden)

Yonghui Xia

2013-05-01

Full Text Available OBJECTIVES: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases. CONCLUSIONS: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.

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.

Variations in Family Constellation: Effects on Gender Schemata

Science.gov (United States)

Katz, Phyllis A.

1987-01-01

Discusses the possible relationships between family socialization agents and gender schemata. Focuses on the interplay of the two types of family variables--distal and proximal--and gender schemata. Distal variables discussed are: (1) socioeconomic level; (2) ethnicity; (3) intact versus one-parent families; (4) maternal employment and sibling…

Genomewide analysis of MATE-type gene family in maize reveals ...

Indian Academy of Sciences (India)

Huasheng Zhu and Jiandong Wu contributed equally to this work. As a group of secondary active transporters, the MATE gene family consists of multiple genes that widely exist in ..... Roots of the stress-treated plants were collected at 0,.

An Analysis of the Fund Raising Issues for Indian Family Businesses

OpenAIRE

Bajaj, Manish Kumar

2007-01-01

Family controlled businesses are a very important organizational type as families control many large businesses around the world. In India, family controlled businesses account for 70 percent of total sales and net profits of the biggest 250 private sector companies. Family businesses play a very important role in the Indian economy. The literature on financial intermediation system has divided the system in two types: 1) Bank Based and 2) Market Based. The literature in Indian fin...

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

Science.gov (United States)

Sotirova, V N; Rezaie, T M; Khoshsorour, M M; Sarfarazi, M

2000-03-01

Waardenburg syndrome Type I (WS1) is an autosomal dominant disorder that has previously been associated with mutations in the PAX3 gene on the 2q35 region. In this study, we used an Iranian WS1 family with seven affected individuals in three generations. The phenotypic characteristics of the family include sensorineural deafness, dystopia canthorum, hypopigmented skin patches of the upper limbs, congenital white forelock, confluent white eyebrows, nonpigmented iris, poliosis, and hypopigmentation of the retina. Herein, we report a previously unidentified single-base substitution in exon II (C-->T at position 218) that results in a change of serine to leucine (S73L) in this family. This change was not observed in 100 chromosomes of healthy unrelated individuals. This mutation is within the PAX3 paired domain region, a structure that is highly conserved and implicated in DNA binding. This is the first identification of a PAX3 mutation for this phenotype in the Iranian population. This also provides additional confirmation for the involvement of this gene in the etiology of WS1.

[HLA genetic markers and auto-antibody profile in a Mapuche family with a case affected of type 1 diabetes].

Science.gov (United States)

Asenjo, Sylvia; Gleisner, Andrea; Pérez, Francisco

2004-01-01

Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All thefamily was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breastfeeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease.

Children's Gender Identity in Lesbian and Heterosexual Two-Parent Families.

Science.gov (United States)

Bos, Henny; Sandfort, Theo G M

2010-01-01

This study compared gender identity, anticipated future heterosexual romantic involvement, and psychosocial adjustment of children in lesbian and heterosexual families; it was furthermore assessed whether associations between these aspects differed between family types. Data were obtained in the Netherlands from children in 63 lesbian families and 68 heterosexual families. All children were between 8 and 12 years old. Children in lesbian families felt less parental pressure to conform to gender stereotypes, were less likely to experience their own gender as superior and were more likely to be uncertain about future heterosexual romantic involvement. No differences were found on psychosocial adjustment. Gender typicality, gender contentedness and anticipated future heterosexual romantic involvement were significant predictors of psychosocial adjustment in both family types.

From early family systems to internalizing symptoms: The role of emotion regulation and peer relations.

Science.gov (United States)

Lindblom, Jallu; Vänskä, Mervi; Flykt, Marjo; Tolvanen, Asko; Tiitinen, Aila; Tulppala, Maija; Punamäki, Raija-Leena

2017-04-01

Research has demonstrated the importance of early family characteristics, such as the quality of caregiving, on children's later mental health. Information is, however, needed about the role of more holistic family systems and specific child-related socioemotional mechanisms. In this study, we conceptualize families as dynamic family system types, consisting of both marital and parenting trajectories over the transition to parenthood. First, we examine how early family system types predict children's anxiety, depression, peer exclusion, and emotion regulation. Second, we test whether couples' infertility history and other family related contextual factors moderate the effects of family system types on child outcomes. Third, we test whether children's emotion regulation and peer exclusion mediate the effects of family system types on anxiety and depression. The participants were 452 families representing cohesive, distant, authoritative, enmeshed, and discrepant family types, identified on the basis of relationship autonomy and intimacy from pregnancy to the child's age of 2 and 12 months. Children's anxiety, depression, emotion regulation, and peer exclusion were assessed at the age of 7-8 years. Structural equation modeling showed that distant, enmeshed, and discrepant families similarly predicted children's heightened anxiety and depression. Infertility history, parental education, and parity moderated the associations between certain family system types and child outcomes. Finally, emotion regulation, but not peer exclusion, was a common mediating mechanism between distant and enmeshed families and children's depression. The results emphasize the importance of early family environments on children's emotion regulation development and internalizing psychopathology. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Use of family-friendly work Arrangements and work-family conflict: Crossover effects in dual-earner couples

OpenAIRE

Schooreel, Tess; Verbruggen, Marijke

2016-01-01

This study uses a dyadic approach to examine how an employee’s work–family conflict is affected when his or her partner makes use of family-friendly work arrangements. We focused on 2 types of family-friendly practices, that is, reduced work hours and schedule or workplace flexibility. Hypotheses were tested with multilevel structural equation modeling using information of 186 dual-earner couples. In line with our hypotheses, we found support for both a positive and a negative crossover ef...

Space weathering of small Koronis family members

Science.gov (United States)

Thomas, Cristina A.; Rivkin, Andrew S.; Trilling, David E.; Enga, Marie-therese; Grier, Jennifer A.

2011-03-01

The space weathering process and its implications for the relationships between S- and Q-type asteroids and ordinary chondrite meteorites is an often debated topic in asteroid science. Q-type asteroids have been shown to display the best spectral match to ordinary chondrites (McFadden, L.A., Gaffey, M.J., McCord, T.B. [1985]. Science 229, 160-163). While the Q-types and ordinary chondrites share some spectral features with S-type asteroids, the S-types have significantly redder spectral slopes than the Q-types in visible and near-infrared wavelengths. This reddening of spectral slope is attributed to the effects of space weathering on the observed surface composition. The analysis by Binzel et al. (Binzel, R.P., Rivkin, A.S., Stuart, J.S., Harris, A.W., Bus, S.J., Burbine, T.H. [2004]. Icarus 170, 259-294) provided a missing link between the Q- and S-type bodies in near-Earth space by showing a reddening of spectral slope in objects from 0.1 to 5 km that corresponded to a transition from Q-type to S-type asteroid spectra, implying that size, and therefore surface age, is related to the relationship between S- and Q-types. The existence of Q-type asteroids in the main-belt was not confirmed until Mothé-Diniz and Nesvorny (Mothé-Diniz, T., Nesvorny, D. [2008]. Astron. Astrophys. 486, L9-L12) found them in young S-type clusters. The young age of these families suggest that the unweathered surface could date to the formation of the family. This leads to the question of whether older S-type main-belt families can contain Q-type objects and display evidence of a transition from Q- to S-type. To answer this question we have carried out a photometric survey of the Koronis family using the Kitt Peak 2.1 m telescope. This provides a unique opportunity to compare the effects of the space weathering process on potentially ordinary chondrite-like bodies within a population of identical initial conditions. We find a trend in spectral slope for objects 1-5 km that shows the

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

DEFF Research Database (Denmark)

Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed

2010-01-01

Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells...... (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

Utilizing Genomics through Family Health History with the Theory of Planned Behavior: Prediction of Type 2 Diabetes Risk Factors and Preventive Behavior in an African American Population in Florida.

Science.gov (United States)

Seaborn, Cynthia; Suther, Sandra; Lee, Torhonda; Kiros, Gebre-Egziabher; Becker, Alan; Campbell, Ellen; Collins-Robinson, Jackie

2016-01-01

African Americans are disproportionately affected by type 2 diabetes. The purpose of this study was to assess to what extent African Americans' knowledge and awareness of family health history and related risk factors for developing type 2 diabetes influence their likelihood of adopting a preventive behavior. This study employed an anonymous pencil-and-paper, self-administered survey consisting of two sections. Section 1 was a modified version of the US Surgeon General's Family Health History Initiative and the American Diabetes Association Diabetes Risk Factor Survey. Section 2 of the survey was based on the constructs of the theory of planned behavior. Over 394 African American participants completed the survey. 'Perceived behavioral control' was the strongest predictor of 'likelihood of adopting preventive behavior'. Participants were aware of their family history as a risk factor for type 2 diabetes, but it was not a significant predictor of behavior modifications based on that knowledge. The lack of perceived risk in this population shows the importance of not only knowing one's risk factors but translating those risk factors to a more personalized form that fits into the current lifestyle of the individual in a meaningful way. © 2016 S. Karger AG, Basel.

The Family Parenting Influenced Adolescent Brawls Behavior

Science.gov (United States)

Nurhaeni, Heni; Dinarti; Priharti, Dwi

2016-01-01

There are four types of parenting: democratic, authoritarian, permissive, and ignored, which would affect the character of the child. However family upbringing itself influenced education, norms/cultural, environmental, social, economic and belongs to the family members. Quasi-experimental study through questionnaires, observation, deep interview,…

Out of the picture: a study of family drawings by children from step-, single-parent, and non-step families.

Science.gov (United States)

Dunn, Judy; O'Connor, Thomas G; Levy, Irit

2002-12-01

Investigated the family drawings of 180 children ages 5 to 7 years in various family settings, including stepfather, single-parent, complex stepfamilies, and 2-parent control families. The relations of family type and biological relatedness to omission of family members and grouping of parents were examined. Children from step- and single-parent families were more likely to exclude family members than children from "control" non-step families, and exclusion was predicted from biological relatedness. Children who were biologically related to both resident parents were also more likely to group their parents together. Omission of family members was found to be associated with children's adjustment (specifically more externalizing and internalizing behavior) as reported by teachers and parents. The results indicate that biological relatedness is a salient aspect of very young children's representations of their families. The association between adjustment and exclusion of family members and grouping of parents indicates that family drawings may be useful research and clinical tools, when used in combination with other methods of assessment.

Type Systems for Bigraphs

DEFF Research Database (Denmark)

Elsborg, Ebbe; Hildebrandt, Thomas; Sangiorgi, Davide

of controls and a set of reaction rules, collectively a bigraphical reactive system (BRS). Possible advantages of developing bigraphical type systems include: a deeper understanding of a type system itself and its properties; transfer of the type systems to the concrete family of calculi that the BRS models...

The Economy of Family Farming Production

OpenAIRE

Forero-Álvarez, Jaime

2013-01-01

Based on the authors’ own research, and on a review of literature on the subject, we propose a conceptualization of two types of family farming, peasants and capitalized non-peasants family farmers. The focus is placed on partial monetization of the production model. The existence of a monetary and a non-monetary dimension is the key to explaining the economic rationality of these two production models. As a way of explaining the economic efficiency of family farmers, the article concludes wi...

The Economy of Family Farming Production

OpenAIRE

Forero-Álvarez, Jaime

2013-01-01

Based on the authors' own research, and on a review of literature on the subject, we propose a conceptualization of two types of family farming, peasants and capitalized non-peasants family farmers. The focus is placed on partial monetization of the production model. The existence of a monetary and a non-monetary dimension is the key to explaining the economic rationality of these two production models. As a way of explaining the economic efficiency of family farmers, the article concludes wi...

Adoptive gay father families: parent-child relationships and children's psychological adjustment.

Science.gov (United States)

Golombok, Susan; Mellish, Laura; Jennings, Sarah; Casey, Polly; Tasker, Fiona; Lamb, Michael E

2014-01-01

Findings are presented on a U.K. study of 41 gay father families, 40 lesbian mother families, and 49 heterosexual parent families with an adopted child aged 3-9 years. Standardized interview and observational and questionnaire measures of parental well-being, quality of parent-child relationships, child adjustment, and child sex-typed behavior were administered to parents, children, and teachers. The findings indicated more positive parental well-being and parenting in gay father families compared to heterosexual parent families. Child externalizing problems were greater among children in heterosexual families. Family process variables, particularly parenting stress, rather than family type were found to be predictive of child externalizing problems. The findings contribute to theoretical understanding of the role of parental gender and parental sexual orientation in child development. © 2013 The Authors. Child Development © 2013 Society for Research in Child Development, Inc.

[Clinical case of the month. Renovascular arterial hypertension complicated by diabetes insipidus: report of a case and review of the literature].

Science.gov (United States)

Feloni, S; Radermacher, L; Remy, C; Jousten, J; Corman, V

2013-01-01

Mrs. A, a 62 year old patient with a history of hypertension, polyuria and polydipsia is hospitalized after a malaise. A severe hypokalemia, which is the cause of the polyuria and polydipsia, is discovered. The presence of hypertension and hypokalemia arises suspicion of a primary hyperaldosteronism and the plasma levels of renin and aldosterone are measured. Elevated aldosterone levels are combined with high plasma renin concentrations which permits to rule out primary hyperaldosteronism. Further explorations reveal a subocclusive ostial stenosis of the right renal artery. A treatment by sartan is instaured, which allows arterial pressure control and kalemia normalization. Chronic hypokalemia can be the cause of tubular nephropathy manifested by nephrogenic diabetes insipidus.

Impaired Fasting Glucose in Omani Adults with no Family History of Type 2 Diabetes

Directory of Open Access Journals (Sweden)

Sawsan Al-Sinani

2014-05-01

Full Text Available Objectives: The aim of this study was to estimate the prevalence of impaired fasting glucose (IFG among Omani adults with no family history (FH of diabetes and to investigate the factors behind the risk of developing type 2 diabetes (T2D, while excluding a FH of diabetes. Methods: A total of 1,182 Omani adults, aged ≥40 years, visited the Family Medicine & Community Health Clinic at Sultan Qaboos University Hospital, Oman, on days other than the Diabetes Clinic days, from July 2010 to July 2011. The subjects were interviewed and asked if they had T2D or a FH of T2D. Results: Only 191 (16% reported no personal history of T2D or FH of the disease. Of these, anthropometric and biochemical data was complete in 159 subjects. Of these a total of 42 (26% had IFG according to the American Diabetes Association criteria. Body mass index, fasting insulin, haemoglobin A1C and blood pressure (BP, were significantly higher among individuals with IFG (P <0.01, P <0.05, P <0.01 and P <0.01, respectively. In addition, fasting insulin, BP and serum lipid profile were correlated with obesity indices (P <0.05. Obesity indices were strongly associated with the risk of IFG among Omanis, with waist circumference being the strongest predictor. Conclusion: Despite claiming no FH of diabetes, a large number of Omani adults in this study had a high risk of developing diabetes. This is possibly due to environmental factors and endogamy. The high prevalence of obesity combined with genetically susceptible individuals is a warning that diabetes could be a future epidemic in Oman.

Role of adiposity and lifestyle in the relationship between family history of diabetes and 20-year incidence of type 2 diabetes in US women

NARCIS (Netherlands)

van 't Riet, E.; Dekker, J.M.; Sun, Q.; Nijpels, G.; Hu, F.B.; van Dam, R.M.

2010-01-01

OBJECTIVE - To evaluate to what extent the association between family history of diabetes and risk of type 2 diabetes can be explained by excess adiposity and lifestyle risk factors. RESEARCH DESIGN AND METHODS - We analyzed data from 73,227 women who participated in the Nurses' Health Study cohort.

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

International Nuclear Information System (INIS)

Wang Haoyang; Hou Yanning; Cui Yingxia; Huang Yufeng; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun

2009-01-01

Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C→A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II

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.

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...

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.

Influence of Type 1 Diabetes Mellitus on Women's Nutritional Beliefs and Lifestyle Choices for Themselves and Their Families.

Science.gov (United States)

Nnedu, Cordelia Chinwe; Gayle, Lynette; Popoola, Sola

2015-12-01

The aim of this research was to examine the impact of type 1 diabetes on women's nutritional beliefs and their lifestyle choices both for themselves and for their families. The data sources used were the online databases of OVID, CINAHL, MEDLINE, PsyINFO, PsyARTICLE, ERIC, Health Source Nursing/Academic edition, and the Centers for Disease Control from January 2000 to 2012. The concentration of the search was to identify literature with the key words "nutrition," "lifestyle," or "women with type 1 diabetes." The researchers found 28 data-based research articles that examined women with type 1 diabetes. The articles were individually scrutinized for relevance and limited to English language articles. Data concerning the nutritional beliefs, lifestyle choices, andfamily dynamics among women with DM1 were extracted. The research articles consisted of 19 qualitative studies, 7 quantitative studies, and 2 theory-testing studies. The themefor the studies included, but was not limited to, birth size, eating disorders, complications of diabetes mellitus, theory testing, documentations of effectiveness, estimations of carbohydrates, weight, changes during pregnancy in women with type 1 diabetes mellitus, and their educational preferences. This integrative review described the effects of DM1 on women's nutritional belief and lifestyle choices. Results demonstrated the importance of education and follow-ups; however, future studies are needed to identify factors that contribute to noncompliance and waysfor patients to comprehend the seriousness of complications that can arise from type 1 diabetes mellitus.

Families of singular and subsingular vectors of the topological N=2 superconformal algebra

International Nuclear Information System (INIS)

Gato-Rivera, B.; Rosado, J.I.

1998-01-01

We analyze several issues concerning the singular vectors of the topological N=2 superconformal algebra. First we investigate which types of singular vectors exist, regarding the relative U(1) charge and the BRST-invariance properties, finding four different types in chiral Verma modules and twenty-nine different types in complete Verma modules. Then we study the family structure of the singular vectors, every member of a family being mapped to any other member by a chain of simple transformations involving the spectral flows. The families of singular vectors in chiral Verma modules follow a unique pattern (four vectors) and contain subsingular vectors. We write down these families until level 3, identifying the subsingular vectors. The families of singular vectors in complete Verma modules follow infinitely many different patterns, grouped roughly in five main kinds. We present a particularly interesting thirty-eight-member family at levels 3, 4, 5, and 6, as well as the complete set of singular vectors at level 1 (twenty-eight different types). Finally we analyze the Doerrzapf conditions leading to two linearly independent singular vectors of the same type, at the same level in the same Verma module, and we write down four examples of those pairs of singular vectors, which belong to the same thirty-eight-member family. (orig.)

Screening for secondary endocrine hypertension in young patients.

Science.gov (United States)

Trifanescu, Raluca; Carsote, Mara; Caragheorgheopol, Andra; Hortopan, Dan; Dumitrascu, Anda; Dobrescu, Mariana; Poiana, Catalina

2013-06-01

Secondary endocrine hypertension accounts for 5-12% of hypertension's causes. In selected patients (type 2 diabetes mellitus, sleep apnea syndrome with resistant hypertension, sudden deterioration in hypertension control), prevalence could be higher. To present etiology of endocrine secondary hypertension in a series of patients younger than 40 years at hypertension's onset. Medical records of 80 patients (39M/41F), aged 30.1 ± 8.2 years (range: 12-40 years), with maximum systolic blood pressure=190.4 ± 29.2 mm Hg, range: 145-300 mm Hg, maximum diastolic blood pressure=107.7 ± 16.9 mm Hg, range: 80-170 mm Hg) referred by cardiologists for endocrine hypertension screening were retrospectively reviewed. Cardiac and renal causes of secondary hypertension were previously excluded. In all patients, plasma catecholamines were measured by ELISA and plasma cortisol by immunochemiluminescence. Orthostatic aldosterone (ELISA) and direct renin (chemiluminescence) were measured in 48 patients. Secondary endocrine hypertension was confirmed in 16 out of 80 patients (20%). Primary hyperaldosteronism was diagnosed in 7 (4M/3F) out of 48 screened patients (14.6%). i.e. 8.75% from whole group: 5 patients with adrenal tumors (3 left/2 right), 2 patients with bilateral adrenal hyperplasia; all patients were hypokalemic at diagnostic (average nadir K+ levels = 2.5 ± 0.5 mmol/L); four patients were hypokalaemic on diuretic therapy (indapamidum); other 3 patients were hypokalaemic in the absence of diuretic therapy. Cushing's syndrome was diagnosed in 6 patients (7.5%): subclinical Cushing due to 4 cm right adrenal tumour - n = 1, overt ACTH-independent Cushing's syndrome due to: macronodular adrenal hyperplasia associated with primary hyperparathyroidism - n = 1; due to adrenal carcinoma - n = 1; due to adrenal adenomas - n = 2; Cushing's disease - n = 1). Pheochromocytomas were diagnosed in 3 patients (3.75%). Primary hyperaldosteronism was the most frequent cause of secondary

Family strengths, motivation, and resources as predictors of health promotion behavior in single-parent and two-parent families.

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Ford-Gilboe, M

1997-06-01

The extent to which selected aspects of family health potential (strengths, motivation, and resources) predicted health work (health-related problem-solving and goal attainment behaviors) was examined in a Canadian sample of 138 female-headed single-parent families and two-parent families. The mother and one child (age 10-14) each completed mailed self-report instruments to assess the independent variables of family cohesion, family pride, mother's non-traditional sex role orientation, general self-efficacy, internal health locus of control, network support, community support, and family income, as well as the dependent variable, health work. With the effects of mothers' education held constant, the independent variables predicted 22 to 27% of the variance in health work in the total sample and each family type. Family cohesion was the most consistent predictor of health work, accounting for 8 to 13% of the variance. The findings challenge existing problem-oriented views of single-parent families by focusing on their potential to engage in health promotion behavior.

Familial Aggregation between the 14th and 21st Century and Type 2 Diabetes Risk in an Isolated Dutch Population.

Directory of Open Access Journals (Sweden)

Kees L de Visser

Full Text Available The development of type 2 diabetes results from an interaction of hereditary factors and environmental factors. This study aimed to investigate the contribution of interrelatedness to the risk of developing type 2 diabetes in an isolated Dutch population.A genealogical database from inhabitants living on the former island Urk between the 14th and 21st century was constructed. In a case-control study, effects of interrelatedness and the risk of type 2 diabetes were estimated with Kinship Coefficients (KCs. Relative risks in first, second, and third degree relatives and spouses of inhabitants with type 2 diabetes were compared to matched controls.Patients with type 2 diabetes were more interrelated, expressed by a higher KC compared to controls (7.2 vs. 5.2, p=0.001. First, second and third degree relatives had an increased risk of developing type 2 diabetes. Second degree relatives had a similar risk,1.7 (1.5-2.0 as third degree relatives,1.8 (1.5-2.2. Spouses of patients with diabetes had a 3.4 (2.7-4.4 higher risk of developing type 2 diabetes.Interrelatedness was higher among inhabitants with type 2 diabetes compared to controls. This differences extended beyond the nuclear family, thereby supporting the hypothesis that interrelatedness contributed to the development of type 2 diabetes on Urk. However, the size of this effect was small and the patterns of risk in first, second and third degree relatives suggested that factors other than interrelatedness were the main contributors to the development of type 2 diabetes on Urk.

PARENTING AND SOCIAL ROLES IN TURKISH TRADITIONAL FAMILIES: ISSUES AND CHOICES IN PARENTING FOR TURKISH EXPATRIATE FAMILIES LIVING IN BUCHAREST

OpenAIRE

Ahmet ECIRLI

2012-01-01

This article looks into the issues and challenges of parenting in Turkish families upholding traditional values that live in Bucharest, the capital of Romania. Based on theoretical mainstreams on parenting and the structure of Turkish families, a qualitative research was designed with two aims. The first was to describe the issues and choices in parenting for Turkish expatriate families living in a foreign country. The second was to find out to which of the three ideal-types of families accor...

Radiological evaluation of familial osteopetrosis

International Nuclear Information System (INIS)

Moon, Moo Chang; Kang, Shin Wha; Won, Jong Jin; Rhee, Song Joo; Choi, Ki Chul

1980-01-01

Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and analysed these patients clinically, radiologically, hematologically and biochemically at the Department of Radiology, Jeonbug National University Hospital from October 1977 to June 1980. The results are as follows; 1. We obtained that there is evidence of familial tendency in developing osteopetrosis because of the fact that 15 patients (94%) developed in 3 families and more than 2 patients in each family. In genetical point of view we suspected dominant trait of inheritance and could rule out recessive trait because patients were found in successive generations except for one family. There were no consangulneous marriages among the parents of these patients. 2. The majority of patients were adolescent or adult above 10 years of age when the disease was diagnosed. The incidence was identical in both sex. 3. No clinical symptoms and historical abnormalities were found in 11 patients (69%) and 5 patients (31%) showed only mild symptoms. Among 5 patients with clinical symptoms 3 patients showed pathologic fractures. In all 3 patients, fractures occurred only by mild trauma and affected sites were tubular bones and they were transverse type. 4. There were no specific relationship between ABO types and Rh reactions in developing osteopetrosis and no specific findings in hematological, biochemical and routine urinalysis. 5. The only diagnostic finding in most patients were the typical and specific radiological findings

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.

Happiness and the Family 2.0 Paradigm

Science.gov (United States)

Mocan, Rodica; Racorean, Stefana

Does new media technology have the potential to make us happier? This paper explores the influence of new information communication technologies on family life satisfaction while analyzing some of the factors that determine changes in the way we live our lives in the information age. Family 2.0 is the new paradigm of family life and the emergence of Web 2.0 type of applications is at the very core of its existence.

The multi-faceted outcomes of conjunct diabetes and cardiovascular familial history in type 2 diabetes.

Science.gov (United States)

Hermans, Michel P; Ahn, Sylvie A; Rousseau, Michel F

2012-01-01

Familial history of early-onset CHD (EOCHD) is a major risk factor for CHD. Familial diabetes history (FDH) impacts β-cell function. Some transmissible, accretional gradient of CHD risk may exist when diabetes and EOCHD familial histories combine. We investigated whether the impact of such combination is neutral, additive, or potentiating in T2DM descendants, as regards cardiometabolic phenotype, glucose homeostasis and micro-/macroangiopathies. Cross-sectional retrospective cohort study of 796 T2DM divided according to presence (Diab[+]) or absence (Diab[-]) of 1st-degree diabetes familial history and/or EOCHD (CVD(+) and (-)). Four subgroups: (i) [Diab(-)CVD(-)] (n=355); (ii) [Diab(+)CVD(-)] (n=338); (iii) [Diab(-)CVD(+)] (n=47); and (iv) [Diab(+)CVD(+)] (n=56). No interaction on subgroup distribution between presence of both familial histories, the combination of which translated into additive detrimental outcomes and higher rates of fat mass, sarcopenia, (hs)CRP and retinopathy. FDH(+) had lower insulinemia, insulin secretion, hyperbolic product, and accelerated hyperbolic product loss. An EOCHD family history affected neither insulin secretion nor sensitivity. There were significant differences regarding macroangiopathy/CAD, more prevalent in [Diab(-)CVD(+)] and [Diab(+)CVD(+)]. Among CVD(+), the highest macroangiopathy prevalence was observed in [Diab(-)CVD(+)], who had 66% macroangiopathy, and 57% CAD, rates higher (absolute-relative) by 23%-53% (overall) and 21%-58% (CAD) than [Diab(+)CVD(+)], who inherited the direst cardiometabolic familial history (p 0.0288 and 0.0310). A parental history for diabetes markedly affects residual insulin secretion and secretory loss rate in T2DM offspring without worsening insulin resistance. It paradoxically translated into lower macroangiopathy with concurrent familial EOCHD. Conjunct diabetes and CV familial histories generate multi-faceted vascular outcomes in offspring, including lesser macroangiopathy/CAD. Copyright

Risk factors for diabetes, but not for cardiovascular disease, are associated with family history of Type 2 diabetes in subjects from central Mexico.

Science.gov (United States)

Zamora-Ginez, Irma; Pérez-Fuentes, Ricardo; Baez-Duarte, Blanca G; Revilla-Monsalve, Cristina; Brambila, Eduardo

2012-03-01

Independent of obesity, family history of type 2 diabetes mellitus (FHT2DM) is another important risk factor for developing diabetes. To establish the association among FHT2DM, risk factors for diabetes and cardiovascular disease in subjects from central Mexico. Clinical and biochemical studies were performed in 383 first-degree relatives of patients with type 2 diabetes and 270 subjects unrelated to patients with type 2 diabetes-all subjects were from the city of Puebla in central Mexico. Logistic regressions were used to assess the association between FHT2DM and metabolic parameters. Cardiovascular risk was classified by dyslipidemia and the Framingham Risk Score (FRS). FHT2DM was associated with risk factors for diabetes, such as increased fasting insulin levels (OR = 1.731, 95% CI = 1.041-2.877), decreased insulin sensitivity (OR = 1.951, 95% CI = 1.236-3.080) and pre-diabetes (OR = 1.63, 95% CI = 1.14-2.33). FHT2DH was not associated with risk factors for cardiovascular disease, such as dyslipidemia (OR = 1.12, 95% CI = 0.70-1.79) and FRS (OR = 0.74, 95% CI = 0.40-1.36) when adjusted for gender, age, smoking and obesity. Diabetic risk factors, but not cardiovascular disease risk factors, are associated with a positive family history of diabetes in subjects from central Mexico, independent of the presence of obesity.

Diabetes education for children with type 1 diabetes mellitus and their families.

Science.gov (United States)

Couch, Robert; Jetha, Mary; Dryden, Donna M; Hooten, Nicola; Liang, Yuanyuan; Durec, Tamara; Sumamo, Elizabeth; Spooner, Carol; Milne, Andrea; O'Gorman, Kate; Klassen, Terry P

2008-04-01

To determine the effectiveness of diabetes education on metabolic control, diabetes-related hospitalizations, complications, and knowledge, quality of life and other psychosocial outcomes for children with type 1 diabetes and their families. A systematic and comprehensive literature review was conducted in 21 electronic databases of medical and health education literature to identify randomized controlled trials (RCTs) and observational studies evaluating the effectiveness of diabetes education. Study selection, quality assessment, and data extraction were conducted independently by several investigators in duplicate. A descriptive analysis is presented. From 12,756 citations, 80 studies were identified and included in the review (53 RCTs or CCTs, 27 observational studies). The methodological quality of studies was generally low. Most studies (35/52) that examined the effect of educational interventions on HbA1c found no evidence of increased effectiveness of the interventions over the education provided as part of standard care. Successful interventions were heterogeneous and included cognitive behavioral therapy, family therapy, skills training and general diabetes education. Most studies reported a positive effect on health service utilization (i.e., reduced use), although less than half were statistically significant. There was no clear evidence that educational interventions had an effect on short-term complications. The effect of educational interventions on diabetes knowledge was unclear with 12/30 studies reporting a significant improvement. Interventions which had varying effects on knowledge scores included diabetes camp, general diabetes education, and cognitive behavioral therapy. In the area of self management/regimen adherence, 10/21 studies reported improving this outcome significantly. Successful interventions included general diabetes education and cognitive behavioral therapy. Educational interventions were successful in improving various

Common familial risk factors for schizophrenia and diabetes mellitus.

Science.gov (United States)

Foley, Debra L; Mackinnon, Andrew; Morgan, Vera A; Watts, Gerald F; Castle, David J; Waterreus, Anna; Galletly, Cherrie A

2016-05-01

The co-occurrence of type 2 diabetes and psychosis is an important form of medical comorbidity within individuals, but no large-scale study has evaluated comorbidity within families. The aim of this study was to determine whether there is evidence for familial comorbidity between type 2 diabetes and psychosis. Data were analysed from an observational study of a nationally representative sample of 1642 people with psychosis who were in contact with psychiatric services at the time of survey (The 2010 Australian National Survey of Psychosis). Participants were aged 18-64 years and met World Health Organization's International Classification of Diseases, 10th Revision diagnostic criteria for a psychotic disorder (857 with schizophrenia, 319 with bipolar disorder with psychotic features, 293 with schizoaffective disorder, 81 with depressive psychosis and 92 with delusional disorder or other non-organic psychoses). Logistic regression was used to estimate the association between a family history of diabetes and a family history of schizophrenia. A positive family history of diabetes was associated with a positive family history of schizophrenia in those with a psychotic disorder (odds ratio = 1.35, p = 0.01, adjusted for age and gender). The association was different in those with an affective versus non-affective psychosis (odds ratio = 0.613, p = 0.019, adjusted for age and gender) and was significant only in those with a non-affective psychosis, specifically schizophrenia (odds ratio = 1.58, p = 0.005, adjusted for age and sex). Adjustment for demographic factors in those with schizophrenia slightly strengthened the association (odds ratio = 1.74, p = 0.001, adjusted for age, gender, diagnosis, ethnicity, education, employment, income and marital status). Elevated risk for type 2 diabetes in people with schizophrenia is not simply a consequence of antipsychotic medication; type 2 diabetes and schizophrenia share familial risk factors. © The Royal Australian and New

The role of personality and role engagement in work-family balance

Directory of Open Access Journals (Sweden)

Johanna Rantanen

2014-01-01

Full Text Available The relations between personality, role engagement, and a four-dimensional typology of work-family balance (WFB were examined within a community-based sample (n = 213 derived from the Jyväskylä Longitudinal Study of Personality and Social Development (JYLS. The typology was formed based on both work-family conflict (WFC and enrichment (WFE experiences. The profiles of personality and role engagement differentiated the four WFB types – Beneficial, Harmful, Active, and Passive types. The Beneficial type (low WFC, high WFE; 48.4% was characterized by low neuroticism, high agreeableness and high conscientiousness. The opposite was observed for the Harmful type (high WFC, low WFE; 8.9%, which was also characterized by low family investment. In turn, high extraversion and high work and family investment characterized the Active type (high WFC, high WFE; 16.4%, whereas low extraversion and openness to experience as well as low work investment characterized the Passive type (low WFC, low WFE; 26.3%. Thus, rather than just being a unidimensional construct ranging from balance to imbalance, it is confirmed that WFB can also be seen as manifesting itself in multiple types, which are linked to meaningful differences in personality traits and role engagement.

[A study on family pattern and psychological aspects of parent and child].

Science.gov (United States)

Seo, M H; Hong, M S

1988-12-01

This study reviews the relationship between family patterns and psychological aspects of the mother-child relationship. As the population increase in Korea will reach 50 million in 2020, population policy must deal with population quality. The data come from 118 5th and 6th grade students and their mothers. Survey results shows that the number of children and the family type are related to mothers' child rearing attitudes. Mothers in nuclear families tended to be warmer and freer towards their children than others. Family type was not related to the self-esteem of children, and the number of siblings showed a weak relationship. Children with siblings have stronger self-esteem. Birth order and younger sibling spacing had a stronger relationship with self-esteem. First borns and those who had younger siblings within a 2-year interval had the weakest self-esteem. Since families are becoming smaller, child quality is becoming more important. Not only family size but also family type, birth order, and spacing need to be considered for the psychological well-being of the population.

Family systems approach to attachment relations, war trauma, and mental health among Palestinian children and parents

Science.gov (United States)

Punamäki, Raija-Leena; Qouta, Samir R.; Peltonen, Kirsi

2017-01-01

ABSTRACT Background: Trauma affects the family unit as a whole; however, most existing research uses individual or, at most, dyadic approaches to analyse families with histories of trauma. Objective: This study aims to identify potentially distinct family types according to attachment, parenting, and sibling relations, to analyse how these family types differ with respect to war trauma, and to explore how children’s mental health and cognitive processing differ across these family types. Method: Participants included Palestinian mothers and fathers (N = 325) and their children (one per family; 49.4% girls; 10–13 years old; mean ± SD age = 11.35 ± 0.57 years) after the Gaza War of 2008–2009. Both parents reported their exposure to war trauma, secure attachment availability, and parenting practices, as well as the target child’s internalizing and externalizing symptoms [Strengths and Difficulties Questionnaire (SDQ)]. Children reported their symptoms of post-traumatic stress disorder (on the Children’s Revised Impact Event Scale), depression (Birleson), and SDQ, as well as their post-traumatic cognitions (Children’s Post Traumatic Cognitions Inventory). Results: A cluster analysis identified four family types. The largest type reflected secure attachment and optimal relationships (security and positive family relationships, 36.2%, n = 102), and the smallest exhibited insecurity and problematic relationships (insecurity and negative family relationships, 15.6%; n = 44). Further, families with discrepant experiences (23.0%; n = 65) and moderate security and neutral relationships (25.2%; n = 71) emerged. The insecurity and negative relationships family type showed higher levels of war trauma; internalizing, externalizing, and depressive symptoms among children; and dysfunctional post-traumatic cognitions than other family types. Conclusion: The family systems approach to mental health is warranted in war conditions, and therapeutic

Family systems approach to attachment relations, war trauma, and mental health among Palestinian children and parents.

Science.gov (United States)

Punamäki, Raija-Leena; Qouta, Samir R; Peltonen, Kirsi

2017-01-01

Background : Trauma affects the family unit as a whole; however, most existing research uses individual or, at most, dyadic approaches to analyse families with histories of trauma. Objective : This study aims to identify potentially distinct family types according to attachment, parenting, and sibling relations, to analyse how these family types differ with respect to war trauma, and to explore how children's mental health and cognitive processing differ across these family types. Method: Participants included Palestinian mothers and fathers ( N  = 325) and their children (one per family; 49.4% girls; 10-13 years old; mean ±  SD age = 11.35 ± 0.57 years) after the Gaza War of 2008-2009. Both parents reported their exposure to war trauma, secure attachment availability, and parenting practices, as well as the target child's internalizing and externalizing symptoms [Strengths and Difficulties Questionnaire (SDQ)]. Children reported their symptoms of post-traumatic stress disorder (on the Children's Revised Impact Event Scale), depression (Birleson), and SDQ, as well as their post-traumatic cognitions (Children's Post Traumatic Cognitions Inventory). Results: A cluster analysis identified four family types. The largest type reflected secure attachment and optimal relationships (security and positive family relationships, 36.2%, n  = 102), and the smallest exhibited insecurity and problematic relationships (insecurity and negative family relationships, 15.6%; n  = 44). Further, families with discrepant experiences (23.0%; n  = 65) and moderate security and neutral relationships (25.2%; n  = 71) emerged. The insecurity and negative relationships family type showed higher levels of war trauma; internalizing, externalizing, and depressive symptoms among children; and dysfunctional post-traumatic cognitions than other family types. Conclusion: The family systems approach to mental health is warranted in war conditions, and therapeutic interventions for

The influence of family factors on delinquent adolescents in ...

African Journals Online (AJOL)

This study was carried out with the aim of finding out the influence of family factors on delinquent adolescents in secondary schools in Edo South Senatorial District of Edo State. This study ascertained the extents to which family factors such as parent child rearing style, family type and parent socio economic background ...

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

Science.gov (United States)

Mancuso, Rebecca J

2011-01-01

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

Financial costs for families of children with Type 1 diabetes in lower-income countries.

Science.gov (United States)

Ogle, G D; Kim, H; Middlehurst, A C; Silink, M; Jenkins, A J

2016-06-01

To assess the direct costs of necessary consumables for minimal care of a child with Type 1 diabetes in countries where the public health system does not regularly provide such care. Supply costs were collected between January 2013 and February 2015 from questionnaires submitted by centres requesting International Diabetes Federation Life for a Child Program support. All 20 centres in 15 countries agreed to the use of their responses. Annual costs for minimal care were estimated for: 18 × 10 ml 100 IU/ml insulin, 1/3 cost of a blood glucose meter, two blood glucose test strips/day, two syringes/week, and four HbA1c tests/year. Costs were expressed in US dollars, and as % of gross national income (purchasing power parity) per capita. The ranges (median) for the minimum supply costs through the private system were: insulin 10 ml 100 IU/ml equivalent vial: $5.10-$25 ($8.00); blood glucose meter: $15-$121 ($33.33); test strip: $0.15-$1.20 ($0.50); syringe: $0.10-$0.56 ($0.20); and HbA1c : $4.90-$20 ($9.75). Annual costs ranged from $255 (Pakistan) to $1,185 (Burkina Faso), with a median of $553. Annual % gross national income costs were 12-370% (median 56%). For the lowest 20% income earners the annual cost ranged 20-1535% (median 153%). St Lucia and Mongolia were the only countries whose governments consistently provided insulin. No government provided meters and strips, which were the most expensive supplies (62% of total cost). In less-resourced countries, even minimal care is beyond many families' means. In addition, families face additional costs such as consultations, travel and indirect costs. Action to prevent diabetes-related death and morbidity is needed. © 2015 Diabetes UK.

Collisional family structure within the Nysa-Polana complex

Science.gov (United States)

Dykhuis, Melissa J.; Greenberg, Richard

2015-05-01

The Nysa-Polana complex is a group of low-inclination asteroid families in the inner main belt, bounded in semimajor axis by the Mars-crossing region and the Jupiter 3:1 mean-motion resonance. This group is important as the most likely source region for the target of the OSIRIS-REx mission, (101955) Bennu; however, family membership in the region is complicated by the presence of several dynamically overlapping families with a range of surface reflectance properties. The large S-type structure in the region appears to be associated with the parent body (135) Hertha, and displays an (eP,aP) correlation consistent with a collision event near true anomaly of ∼180° with ejecta velocity vej ∼ 285m /s . The ejecta distribution from a collision with these orbital properties is predicted to have a maximum semimajor axis dispersion of δaej = 0.005 ± 0.008AU , which constitutes only a small fraction (7%) of the observed semimajor axis dispersion, the rest of which is attributed to the Yarkovsky effect. The age of the family is inferred from the Yarkovsky dispersion to be 300-50+60 My. Objects in a smaller cluster that overlaps the large Hertha family in proper orbital element space have reflectance properties more consistent with the X-type (135) Hertha than the surrounding S-type family. These objects form a distinct Yarkovsky "V" signature in (aP, H) space, consistent with a more recent collision, which appears to also be dynamically connected to (135) Hertha. Production of two families with different reflectance properties from a single parent could result from the partial differentiation of the parent, shock darkening effects, or other causes. The Nysa-Polana complex also contains a low-albedo family associated with (142) Polana (called "New Polana" by Walsh et al. (Walsh, K.J. et al. [2013]. Icarus 225, 283-297)), and two other low-albedo families associated with (495) Eulalia. The second Eulalia family may be a high-aP , low-eP , low-iP component of the first

Empowering Kinship to Counter Control on Family Discourse in Indonesia

OpenAIRE

Ivanovich Agusta

2009-01-01

Indonesian government constructs a discourse on family duringmodernizing Indonesia. A conceptual “father” used to legitimate control of the regime, as well as “state ibuism” (“state mothering”) to control especially women. A controlled family discourse is used around political sphere on national election, public administration, family planning, school, etc. State bureaucrats placed at national, provincial, regency, and village levels to control a nuclear family (Westernized type of family pus...

Supportive families versus support from families: The decision to have a child in the Netherlands

Directory of Open Access Journals (Sweden)

Susan Schaffnit

2017-08-01

Full Text Available Background: Support from families can reduce costs of reproduction and may therefore be associated with higher fertility for men and women. Family supportiveness, however, varies both between families - some families are more supportive than others - and within families over time - as the needs of recipients and the abilities of support givers change. Distinguishing the effects of time-invariant between-family supportiveness and time-varying within-family supportiveness on fertility can help contribute to an understanding of how family support influences fertility. Objective: We distinguish 'between' and 'within' families for several types of support shared between parents and adult children and test whether between- and within-family variation in support associates with birth timings. Methods: We use seven years of annually collected LISS panel data from the Netherlands on 2,288 reproductive-aged men and women to investigate the timing of first and subsequent births. Results: We find between-family support is more often associated with fertility than is within-family support, particularly for first births and for women. Emotional support is generally associated with earlier first births for both men and women, while results for financial and reciprocal emotional support are mixed. There is some indication that the latter kind of support positively predicts births for men and negatively for women. Conclusions: Our results suggest that feeling supported may be more important than actual support in reproductive decision-making in this high-income setting. Contribution: We apply a method novel to human demography to address both a conceptual and methodological issue in studies of families and fertility.

A family of memristor-based reactance-less oscillators

KAUST Repository

Zidan, Mohammed A.

2013-05-03

In this paper, we present for the first time a family of memristor-based reactance-less oscillators (MRLOs). The proposed oscillators require no reactive components, that is, inductors or capacitors, rather, the ‘resistance storage’ property of memristor is exploited to generate the oscillation. Different types of MRLO family are presented, and for each type, closed form expressions are derived for the oscillation condition, oscillation frequency, and range of oscillation. Derived equations are further verified using transient circuit simulations. A comparison between different MRLO types is also discussed. In addition, detailed fabrication steps of a memristor device and experimental results for the first MRLO physical realization are presented.

A family of memristor-based reactance-less oscillators

KAUST Repository

Zidan, Mohammed A.; Omran, Hesham; Smith, Casey; Syed, Ahad; Radwan, Ahmed Gomaa; Salama, Khaled N.

2013-01-01

In this paper, we present for the first time a family of memristor-based reactance-less oscillators (MRLOs). The proposed oscillators require no reactive components, that is, inductors or capacitors, rather, the ‘resistance storage’ property of memristor is exploited to generate the oscillation. Different types of MRLO family are presented, and for each type, closed form expressions are derived for the oscillation condition, oscillation frequency, and range of oscillation. Derived equations are further verified using transient circuit simulations. A comparison between different MRLO types is also discussed. In addition, detailed fabrication steps of a memristor device and experimental results for the first MRLO physical realization are presented.

WORKPLACE SOCIAL SUPPORT AND WORK–FAMILY CONFLICT: A META-ANALYSIS CLARIFYING THE INFLUENCE OF GENERAL AND WORK–FAMILY-SPECIFIC SUPERVISOR AND ORGANIZATIONAL SUPPORT

OpenAIRE

KOSSEK, ELLEN ERNST; PICHLER, SHAUN; BODNER, TODD; HAMMER, LESLIE B.

2011-01-01

This article uses meta-analysis to develop a model integrating research on relationships between employee perceptions of general and work–family-specific supervisor and organizational support and work–family conflict. Drawing on 115 samples from 85 studies comprising 72,507 employees, we compared the relative influence of 4 types of workplace social support to work–family conflict: perceived organizational support (POS); supervisor support; perceived organizational work–family support, also k...

Numerical Simulations Of Catastrophic Disruption Of Porous Bodies: Application To Dark-type Asteroids And Kuiper-belt Family Formation

Science.gov (United States)

Michel, Patrick; Jutzi, M.; Richardson, D. C.; Benz, W.

2010-10-01

Asteroids of dark (e.g. C, D) taxonomic classes as well as Kuiper Belt objects and comets are believed to have high porosity, not only in the form of large voids but also in the form of micro-pores. The presence of such microscale porosity introduces additional physics in the impact process. We have enhanced our 3D SPH hydrocode, used to simulate catastrophic breakups, with a model of porosity [1] and validated it at small scale by comparison with impact experiments on pumice targets [2]. Our model is now ready to be applied to a large range of problems. In particular, accounting for the gravitational phase of an impact, we can study the formation of dark-type asteroid families, such as Veritas, and Kuiper-Belt families, such as Haumea. Recently we characterized for the first time the catastrophic impact energy threshold, usually called Q*D, as a function of the target's diameter, porosity, material strength and impact speed [3]. Regarding the mentioned families, our preliminary results show that accounting for porosity leads to different outcomes that may better represent their properties and constrain their definition. In particular, for Veritas, we find that its membership may need some revision [4]. The parameter space is still large, many interesting families need to be investigated and our model will be applied to a large range of cases. PM, MJ and DCR acknowledge financial support from the French Programme National de Planétologie, NASA PG&G "Small Bodies and Planetary Collisions" and NASA under Grant No. NNX08AM39G issued through the Office of Space Science, respectively. [1] Jutzi et al. 2008. Icarus 198, 242-255; [2] Jutzi et al. 2009. Icarus 201, 802-813; [3] Jutzi et al. 2010. Fragment properties at the catastrophic disruption threshold: The effect of the parent body's internal structure, Icarus 207, 54-65; [4] Michel et al. 2010. Icarus, submitted.

Aldosterone blood test

Science.gov (United States)

... Addison disease - serum aldosterone; Primary hyperaldosteronism - serum aldosterone; Bartter syndrome - serum aldosterone ... normal level of aldosterone may be due to Bartter syndrome (group of rare conditions that affect the kidneys) ...

Interferon induced IFIT family genes in host antiviral defense.

Science.gov (United States)

Zhou, Xiang; Michal, Jennifer J; Zhang, Lifan; Ding, Bo; Lunney, Joan K; Liu, Bang; Jiang, Zhihua

2013-01-01

Secretion of interferons (IFNs) from virus-infected cells is a hallmark of host antiviral immunity and in fact, IFNs exert their antiviral activities through the induction of antiviral proteins. The IFN-induced protein with tetratricopeptide repeats (IFITs) family is among hundreds of IFN-stimulated genes. This family contains a cluster of duplicated loci. Most mammals have IFIT1, IFIT2, IFIT3 and IFIT5; however, bird, marsupial, frog and fish have only IFIT5. Regardless of species, IFIT5 is always adjacent to SLC16A12. IFIT family genes are predominantly induced by type I and type III interferons and are regulated by the pattern recognition and the JAK-STAT signaling pathway. IFIT family proteins are involved in many processes in response to viral infection. However, some viruses can escape the antiviral functions of the IFIT family by suppressing IFIT family genes expression or methylation of 5' cap of viral molecules. In addition, the variants of IFIT family genes could significantly influence the outcome of hepatitis C virus (HCV) therapy. We believe that our current review provides a comprehensive picture for the community to understand the structure and function of IFIT family genes in response to pathogens in human, as well as in animals.

Endocrine neoplasms in familial syndromes of hyperparathyroidism.

Science.gov (United States)

Li, Yulong; Simonds, William F

2016-06-01

Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e.g., parathyroid carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma in MEN2A. Because of the different underlying mechanisms of neoplasia, these familial tumors may have different characteristics compared with their sporadic counterparts. Large-scale clinical trials are frequently lacking due to the rarity of these diseases. With technological advances and the development of new medications, the natural history, diagnosis, and management of these syndromes are also evolving. In this article, we summarize the recent knowledge on endocrine neoplasms in three familial hyperparathyroidism syndromes, with an emphasis on disease characteristics, molecular pathogenesis, recent developments in biochemical and radiological evaluation, and expert opinions on surgical and medical therapies. Because these familial hyperparathyroidism syndromes are associated with a wide variety of tumors in different organs, this review is focused on those endocrine neoplasms with malignant potential. © 2016 Society for Endocrinology.

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

Science.gov (United States)

Winchester, H P

1990-01-01

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

The family Planococcaceae

Digital Repository Service at National Institute of Oceanography (India)

Shivaji, S.; Srinivas, T.N.R.; Reddy, G.S.N.

rods in case of other genera Diagnostic amino acid in the peptidoglycan is l-lysine with a peptidoglycan variation of A4alfa type Most dominating fatty acids of the family are iso-C_15:0 or anteiso-C_15:0 or iso-C_16:0 or C...

Parent-Child Relationships in Nondivorced, Divorced Single-Mother, and Remarried Families.

Science.gov (United States)

Hagan, Margaret Stanley; And Others

1992-01-01

Over time, mother-child relationships in families with remarried mothers grew increasingly similar to those in families whose parents had never divorced. Relationships in single-mother families remained different from those in the other two types of families. Stepfathers were less likely to be authoritative than were nondivorced fathers. (BC)

The organizational work-family culture. The organizational time as an element of the work-family balance, in Europe

OpenAIRE

Mariana-Aida Cimpeanu

2012-01-01

Juggling work and family has become a challenge or any management system considering that the time to achieve is growing at the expanse of the necessary time to complete the tasks related to private life. The achievement of this balance is done on one hand by legislative means, and on the other hand at an organizational level, through an organizational culture that supports the achievement of a balance between the employee’s work and his family life – the work-family type of culture. The most...

Radioimmunoassay for determination of blood aldosterone and renin in the diagnosis of some forms of arterial hypertension

International Nuclear Information System (INIS)

Khamidov, R.I.; Khalmuratova, R.A.; Sattarova, F.K.

1987-01-01

Aldosterone concentration and renin activity in the blood from the ulnar, inferior cava veins at the level of the 12th thoracic vertebra, the left and right renal veins were studied in 60 patients with arterial hypertension by means of a radioimmunoassay kits (France). The patients were divided into 4 groups: with primary and idiopathic hyperaldosteronism, renal-parenchymatous and essential arterial hypertension. The diagnosis of primary and idiopathic hyperaldosteronism was also confirmed by low blood renin activity. Renin activity in the peripheral venous blood was considerably elevated in renal-parenchymatous arterial hypertension and was normal in essential hypertension. Aldosterone concentration in the blood from the vena cava inferior and renal veins was 1.6-2-fold as high on the affected side as on the contralateral one

Relationship Between Aldosterone and Parathyroid Hormone, and the Effect of Angiotensin and Aldosterone Inhibition on Bone Health

DEFF Research Database (Denmark)

L.S., Bislev; T., Sikjaer; L., Rolighed

2015-01-01

Emerging evidence suggests a stimulating effect of parathyroid hormone (PTH) on the reninnullangiotensinnullaldosterone system (RAAS). In primary hyperparathyroidism, chronic-elevated PTH levels seem to stimulate the RAAS which may explain the increased risk of cardiovascular disease (CVD......). In addition to increased PTH levels, low vitamin D levels may also directly increase risk of CVD, as vitamin D, itself, has been shown to inhibit the RAAS. Angiotensin II, aldosterone and cortisol all negatively impact bone health. Hyperaldosteronism is associated with a reversible secondary...... hyperparathyroidism due to increased renal calcium excretion. Moreover, the angiotensin II receptor is expressed by human parathyroid tissue, and angiotensin may therefore directly stimulates PTH secretion. An increased bone loss is found in patients with hyperaldosteronism. The angiotensin II receptor seems main...

Adolescents who assault their parents:a different family profile of young offenders?

Science.gov (United States)

Contreras, Lourdes; Cano, Carmen

2014-01-01

Some authors have proposed that the mechanisms underlying adolescent-to-parent abuse seem to be different from other forms of juvenile delinquency. Given that this aggression is exerted within the family setting, our study was aimed to explore if there was a differential family profile for those adolescents who commit a parent abuse offense compared to those who commit other types of offenses. Judicial files of 1,046 young offenders from the Juvenile Justice Service of Jaén (Spain) were examined. The final sample (654 young offenders) was divided into 2 groups: those who had committed offenses against a parent (parent abuse group) and those who had committed other types of offenses (other offenses group). Results showed that families with parent abuse have differential characteristics, especially regarding the family size, type of household, parenting styles, and the patterns of interactions between the family members.

Extended family medicine training

Science.gov (United States)

Slade, Steve; Ross, Shelley; Lawrence, Kathrine; Archibald, Douglas; Mackay, Maria Palacios; Oandasan, Ivy F.

2016-01-01

Abstract Objective To examine trends in family medicine training at a time when substantial pedagogic change is under way, focusing on factors that relate to extended family medicine training. Design Aggregate-level secondary data analysis based on the Canadian Post-MD Education Registry. Setting Canada. Participants All Canadian citizens and permanent residents who were registered in postgraduate family medicine training programs within Canadian faculties of medicine from 1995 to 2013. Main outcome measures Number and proportion of family medicine residents exiting 2-year and extended (third-year and above) family medicine training programs, as well as the types and numbers of extended training programs offered in 2015. Results The proportion of family medicine trainees pursuing extended training almost doubled during the study period, going from 10.9% in 1995 to 21.1% in 2013. Men and Canadian medical graduates were more likely to take extended family medicine training. Among the 5 most recent family medicine exit cohorts (from 2009 to 2013), 25.9% of men completed extended training programs compared with 18.3% of women, and 23.1% of Canadian medical graduates completed extended training compared with 13.6% of international medical graduates. Family medicine programs vary substantially with respect to the proportion of their trainees who undertake extended training, ranging from a low of 12.3% to a high of 35.1% among trainees exiting from 2011 to 2013. Conclusion New initiatives, such as the Triple C Competency-based Curriculum, CanMEDS–Family Medicine, and Certificates of Added Competence, have emerged as part of family medicine education and credentialing. In acknowledgment of the potential effect of these initiatives, it is important that future research examine how pedagogic change and, in particular, extended training shapes the care family physicians offer their patients. As part of that research it will be important to measure the breadth and uptake of

Strategic profiles and evolution of family businesses in the Netherlands

NARCIS (Netherlands)

Leenders, M.A.A.M.; Waarts, E.; Gupta, V.; Levenburg, N.; Moore, L.L.; Motwani, J.; Schwartz, T.V.

2008-01-01

The purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We make a distinction between a firm’s family and business orientation. The two dimensions are used to develop a space of family businesses that include ‘Houses of

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.

Clinicopathologic Features of Familial Nonmedullary Thyroid Carcinoma

Directory of Open Access Journals (Sweden)

Yu-Fang Fan

2015-01-01

Full Text Available Background: Familial nonmedullary thyroid carcinoma (FNMTC is a variant of nonmedullary thyroid carcinoma(NMTC with particular clinicopathologic features. In recent years, a number of studies have shown that FNMTC is more invasive than sporadic NMTC(SNMTC. The purpose of this study was to explore the differences in clinicopathologic features of FNMTC between different types of families and to determine in which of these families more invasive FNMTC occurred. Methods: We retrospectively reviewed all patients with thyroid carcinoma admitted to Peking Union Medical College Hospital from January 2009 to July 2013 in the database. Of all 2000 cases, 55 met the inclusive criteria for FNMTC and were studied. There are two different grouping methods. The first is that all samples were allocated to families with three or more first-degree relatives affected (FNMTC-3 group and families with only two affected first-degree relatives (FNMTC-2 group. The second is that all patients were divided into families with three or more affected first-degree relatives over two generations (FNMTC-3-2 group and the other families. We compared the clinicopathologic features such as sex, age, tumor size, multifocality, location, complications by thyroiditis, complications by benign thyroid nodules, surgical procedure, capsule invasion, histological type, lymph node metastases, tumor node metastasis stage, and BRAF mutation between FNMTC-2 group and FNMTC-3 group. We also made the same comparison between FNMTC-3-2 group and other families. Results: No pronounced differences in clinicopathological features were present between FNMTC-2 group and FNMTC-3 group. The proportion of FNMTC-3-2 group aged <45 years was significantly higher than that in the other families (58.8% vs. 26.3%, P = 0.021. A similar difference was found in the proportion of lymph node metastasis (64.7% vs. 34.2%, P = 0.035. Conclusions: FNMTC-3-2 is more invasive than the other families. Early screening

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Science.gov (United States)

Hoppmann, Julia; Gesing, Julia; Silve, Caroline; Leroy, Chrystel; Bertsche, Astrid; Hirsch, Franz Wolfgang; Kiess, Wieland; Pfäffle, Roland; Schuster, Volker

2017-01-01

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-α regulatory subunit and acrodysostosis type 2 caused by mutations in phosphodiesterase 4D (PDE4D). Most cases are sporadic. We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation. A 3.5-year-old boy presented with short stature, midfacial hypoplasia, severe brachydactyly, developmental delay, and behavioural problems. Laboratory investigations revealed mild thyrotropin resistance. His mother shared some characteristic features, such as midfacial hypoplasia and severe brachydactyly, but did not show short stature, intellectual disability or hormonal resistance. Genetic analysis identified the identical, novel heterozygous missense mutation of the PDE4D gene c.569C>T (p.Ser190Phe) in both patients. This case illustrates the significant phenotypic variability of acrodysostosis even within one family with identical mutations. Hence, a specific clinical diagnosis of acrodysostosis remains challenging because of great interindividual variability and a substantial overlap of the two subtypes as well as with other related Gsα-cAMP-signalling-linked disorders. PMID:28515031

Chromosomal locations of members of a family of novel endogenous human retroviral genomes

International Nuclear Information System (INIS)

Horn, T.M.; Huebner, K.; Croce, C.; Callahan, R.

1986-01-01

Human cellular DNA contains two distinguishable families of retroviral related sequences. One family shares extensive nucleotide sequence homology with infectious mammalian type C retroviral genomes. The other family contains major regions of homology with the pol genes of infectious type A and B and avian type C and D retroviral genomes. Analysis of the human recombinant clone HLM-2 has shown that the pol gene in the latter family is located within an endogenous proviral genome. The authors show that the proviral genome in HLM-2 and the related recombinant clone HLM-25 are located, respectively, on human chromosomes 1 and 5. Other related proviral genomes are located on chromosomes 7, 8, 11, 14, and 17

A new social-family model for eating disorders: A European multicentre project using a case-control design.

Science.gov (United States)

Krug, Isabel; Fuller-Tyszkiewicz, Matthew; Anderluh, Marija; Bellodi, Laura; Bagnoli, Silvia; Collier, David; Fernandez-Aranda, Fernando; Karwautz, Andreas; Mitchell, Sarah; Nacmias, Benedetta; Ricca, Valdo; Sorbi, Sandro; Tchanuria, Kate; Wagner, Gudrun; Treasure, Janet; Micali, Nadia

2015-12-01

To examine a new socio-family risk model of Eating Disorders (EDs) using path-analyses. The sample comprised 1264 (ED patients = 653; Healthy Controls = 611) participants, recruited into a multicentre European project. Socio-family factors assessed included: perceived maternal and parental parenting styles, family, peer and media influences, and body dissatisfaction. Two types of path-analyses were run to assess the socio-family model: 1.) a multinomial logistic path-model including ED sub-types [Anorexia Nervosa-Restrictive (AN-R), AN-Binge-Purging (AN-BP), Bulimia Nervosa (BN) and EDNOS)] as the key polychotomous categorical outcome and 2.) a path-model assessing whether the socio-family model differed across ED sub-types and healthy controls using body dissatisfaction as the outcome variable. The first path-analyses suggested that family and media (but not peers) were directly and indirectly associated (through body dissatisfaction) with all ED sub-types. There was a weak effect of perceived parenting directly on ED sub-types and indirectly through family influences and body dissatisfaction. For the second path-analyses, the socio-family model varied substantially across ED sub-types. Family and media influences were related to body dissatisfaction in the EDNOS and control sample, whereas perceived abusive parenting was related to AN-BP and BN. This is the first study providing support for this new socio-family model, which differed across ED sub-types. This suggests that prevention and early intervention might need to be tailored to diagnosis-specific ED profiles. Copyright © 2015 Elsevier Ltd. All rights reserved.

Women in the family business: the case of Asian businesswomen

Directory of Open Access Journals (Sweden)

Amelia Sáiz López

2007-10-01

Full Text Available This article approaches the subject of studying Asian businesswomen in Spain. It begins by noting how businesswomen have been viewed from various analytical perspectives, and concludes that such profiles do not help us to analyse the most common type of Asian businesswomen that we have encountered in both statistical data and in fieldwork, given that the most common type of Asian businesswoman forms part of the family business. A new bibliographic review this time in the area of family businesses reveals that in recent times, the academic view has tended to view the family as a basic entity of study; a comprehensive perspective which, when applied to our specific field, enables us to reconsider the role and contribution of women in family businesses.

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,...

Do L chondrites come from the Gefion family?

Science.gov (United States)

McGraw, Allison M.; Reddy, Vishnu; Sanchez, Juan A.

2018-05-01

Ordinary chondrites (H, L, and LL chondrites) are the most common type of meteorites comprising 80 per cent of the meteorites that fall on Earth. The source region of these meteorites in the main asteroid belt has been a basis of considerable debate in the small bodies community. L chondrites have been proposed to come from the Gefion asteroid family, based on dynamical models. We present results from our observational campaign to verify a link between the Gefion asteroid family and L chondrite meteorites. Near-infrared spectra of Gefion family asteroids (1839) Ragazza, (2373) Immo, (2386) Nikonov, (2521) Heidi, and (3860) Plovdiv were obtained at the NASA Infrared Telescope Facility (IRTF). Spectral band parameters including band centres and the band area ratio were measured from each spectrum and used to constrain the composition of these asteroids. Based on our results, we found that some members of the Gefion family have surface composition similar to that of H chondrites, primitive achondrites, and basaltic achondrites. No evidence was found for L chondrites among the Gefion family members in our small sample study. The diversity of compositional types observed in the Gefion asteroid family suggests that the original parent body might be partially differentiated or that the three asteroids with non-ordinary chondrite compositions might be interlopers.

Male Involvement in Family Planning Decision Making in Ile-Ife ...

African Journals Online (AJOL)

Erah

ORIGINAL RESEARCH ARTICLE. Male Involvement ... However, fertility and family planning research and .... design, employing both quantitative and qualitative research .... Table 2: Types of family planning methods known to male residents ...

Channelopathies.

Science.gov (United States)

Kim, June-Bum

2014-01-01

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

Jamaican family structure: the paradox of normalcy.

Science.gov (United States)

Dechesnay, M

1986-06-01

The relationship between basic research, theory, and clinical work with families is conceptualized during a discussion of Jamaican family structure and the application of change theory to a clinical case of depression in a Jamaican woman. It was found that three types of family structure are prevalent in Jamaica. The European ideal of a patriarchal-patrifocal structure creates problems for working-class Jamaicans. General system theory provides support for a different model. Change theory is applied to resolve the paradox created by the European model.

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.

Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa

Czech Academy of Sciences Publication Activity Database

Fábera, Petr; Krijtová, H.; Tomášek, M.; Krýsl, D.; Zámečník, J.; Mohapl, M.; Jiruška, Přemysl; Marusič, P.

2015-01-01

Roč. 31, Sep 2015 (2015), s. 120-123 ISSN 1059-1311 R&D Projects: GA MZd(CZ) NT14489 Institutional support: RVO:67985823 Keywords : familial temporal lobe epilepsy * focal cortical dysplasia * epilepsy surgery * genetics of epilepsy Subject RIV: FH - Neurology Impact factor: 2.109, year: 2015

[Familial combined hyperlipidemia: consensus document].

Science.gov (United States)

Mata, Pedro; Alonso, Rodrigo; Ruíz-Garcia, Antonio; Díaz-Díaz, Jose L; González, Noemí; Gijón-Conde, Teresa; Martínez-Faedo, Ceferino; Morón, Ignacio; Arranz, Ezequiel; Aguado, Rocío; Argueso, Rosa; Perez de Isla, Leopoldo

2014-10-01

Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol <100mg/dL, and <70mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners. Copyright © 2014 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Sansevieria roxburghiana Schult. & Schult. F. (Family: Asparagaceae) Attenuates Type 2 Diabetes and Its Associated Cardiomyopathy.

Science.gov (United States)

Bhattacharjee, Niloy; Khanra, Ritu; Dua, Tarun K; Das, Susmita; De, Bratati; Zia-Ul-Haq, M; De Feo, Vincenzo; Dewanjee, Saikat

2016-01-01

Sansevieria roxburghiana Schult. & Schult. F. (Family: Asparagaceae) rhizome has been claimed to possess antidiabetic activity in the ethno-medicinal literature in India. Therefore, present experiments were carried out to explore the protective role of edible (aqueous) extract of S. roxburghiana rhizome (SR) against experimentally induced type 2 diabetes mellitus (T2DM) and its associated cardiomyopathy in Wistar rats. SR was chemically characterized by GC-MS analysis. Antidiabetic activity of SR (50 and 100 mg/kg, orally) was measured in high fat diets (ad libitum) + low-single dose of streptozotocin (35 mg/kg, intraperitoneal) induced type 2 diabetic (T2D) rat. Fasting blood glucose level was measured at specific intermissions. Serum biochemical and inflammatory markers were estimated after sacrificing the animals. Besides, myocardial redox status, expressions of signal proteins (NF-κB and PKCs), histological and ultrastructural studies of heart were performed in the controls and SR treated T2D rats. Phytochemical screening of the crude extract revealed the presence of phenolic compounds, sugar alcohols, sterols, amino acids, saturated fatty acids within SR. T2D rats exhibited significantly (p disintegration, oxidative stress, vascular inflammation and prevented the activation of oxidative stress induced signaling cascades leading to cell death. Histological and ultra-structural studies of cardiac tissues supported the protective characteristics of SR. From the present findings it can be concluded that, SR could offer protection against T2DM and its associated cardio-toxicity via multiple mechanisms viz. hypoglycemic, antioxidant and anti-inflammatory actions.

Family Structure and Adolescent Substance Use: An International Perspective.

Science.gov (United States)

Hoffmann, John P

2017-11-10

Numerous studies indicate that family structure is a key correlate of adolescent substance use. Yet there are some important limitations to this research. Studies have been conducted mainly in the United States, with relatively few studies that have compared family structure and youth substance use across nations. There is also a lack of recognition of the complexity of family types prevalent in contemporary global society. Moreover, there remains a need to consider personal, interpersonal, and macro-level characteristics that may help account for the association between family structure and youth substance use. This study uses data from 37 countries to examine several models that purport to explain the association between family structure and substance use. The data are from the 2005-2006 WHO-sponsored Health Behaviour in School-Aged Children (HBSC) (n = 193,202). Multilevel models, including linear, probit, and structural equation models (SEMs), were used to test several hypotheses. The results suggest that time spent with friends largely accounted for the association between specific types of family structures and frequency of alcohol use and getting drunk, but that cannabis use was negatively associated with living with both biological parents irrespective of other factors.

Family Structure, Residential Mobility, and Environmental Inequality

Science.gov (United States)

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

2016-01-01

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

WORKPLACE SOCIAL SUPPORT AND WORK–FAMILY CONFLICT: A META-ANALYSIS CLARIFYING THE INFLUENCE OF GENERAL AND WORK–FAMILY-SPECIFIC SUPERVISOR AND ORGANIZATIONAL SUPPORT

Science.gov (United States)

KOSSEK, ELLEN ERNST; PICHLER, SHAUN; BODNER, TODD; HAMMER, LESLIE B.

2011-01-01

This article uses meta-analysis to develop a model integrating research on relationships between employee perceptions of general and work–family-specific supervisor and organizational support and work–family conflict. Drawing on 115 samples from 85 studies comprising 72,507 employees, we compared the relative influence of 4 types of workplace social support to work–family conflict: perceived organizational support (POS); supervisor support; perceived organizational work–family support, also known as family-supportive organizational perceptions (FSOP); and supervisor work–family support. Results show work–family-specific constructs of supervisor support and organization support are more strongly related to work–family conflict than general supervisor support and organization support, respectively. We then test a mediation model assessing the effects of all measures at once and show positive perceptions of general and work–family-specific supervisor indirectly relate to work–family conflict via organizational work–family support. These results demonstrate that work–family-specific support plays a central role in individuals’ work–family conflict experiences. PMID:21691415

WORKPLACE SOCIAL SUPPORT AND WORK-FAMILY CONFLICT: A META-ANALYSIS CLARIFYING THE INFLUENCE OF GENERAL AND WORK-FAMILY-SPECIFIC SUPERVISOR AND ORGANIZATIONAL SUPPORT.

Science.gov (United States)

Kossek, Ellen Ernst; Pichler, Shaun; Bodner, Todd; Hammer, Leslie B

2011-01-01

This article uses meta-analysis to develop a model integrating research on relationships between employee perceptions of general and work-family-specific supervisor and organizational support and work-family conflict. Drawing on 115 samples from 85 studies comprising 72,507 employees, we compared the relative influence of 4 types of workplace social support to work-family conflict: perceived organizational support (POS); supervisor support; perceived organizational work-family support, also known as family-supportive organizational perceptions (FSOP); and supervisor work-family support. Results show work-family-specific constructs of supervisor support and organization support are more strongly related to work-family conflict than general supervisor support and organization support, respectively. We then test a mediation model assessing the effects of all measures at once and show positive perceptions of general and work-family-specific supervisor indirectly relate to work-family conflict via organizational work-family support. These results demonstrate that work-family-specific support plays a central role in individuals' work-family conflict experiences.

Familial co-occurrence of congenital heart defects follows distinct patterns

DEFF Research Database (Denmark)

Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice

2018-01-01

Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision......-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. We calculated rates of concordance and discordance for 41...... specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly...

Familial co-occurrence of congenital heart defects follows distinct patterns

DEFF Research Database (Denmark)

Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice

2017-01-01

Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision......-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. We calculated rates of concordance and discordance for 41...... specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly...

Phylogenetic Analysis of C Type Lectin from Toxocara canis Infective Larvae and Comparison with the C Type Lectin Fam-ily in the Immune System of Mouse and Human

Directory of Open Access Journals (Sweden)

Fazeleh ETEBAR

2018-03-01

Full Text Available Background: C type lectin (CTL family is a type of calcium-dependent proteins found in vertebrates and invertebrates. The objective of this study was to perform a comparative analysis and phylogenetic inferring for understanding the similarities and differences of carbohydrate recognition domain (CRD domain of Toxocara canis CTL and other nematodes, and similar C type lectin involved in the immune system of mouse and human as their host.Methods: The female T. canis was retrieved from the 2-6 months puppies (Department of Parasitology, Faculty of Veterinary Medicine, University of Tehran, 2015. To collect T. canis eggs, the worms were cultured for 5 d until they were embryonated. The hatching process was accelerated for collecting the stage 2 larvae, and the larvae were cultured for a week. A cDNA library was made from the total mRNA of T. canis infective larvae. The PCR amplification for C type lectin gene was performed and the amino acids were analyzed using the alignment method and the construction of phylogenetic tree.Results: The suspension sample maintained at 30 ºC for four weeks could embryonate 90%-100% of eggs. T. canis CTL gene was 657 bp in length and encoded a protein with 219 amino acids. The CTL of species of Strongylida order were closely placed in the tree, whereas the members of Ascaridida orders were located in a separate branch. High levels of similarity (36%-44% and conservation of C type lectin from T. canis with mouse and human C type lectins. Its C type lectin showed a higher similarity with asialoglycoprotein receptor (ASGPR, macrophage lectin, dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN, MINCLE receptor of mouse and human.Conclusion: Analysis of CRD domain of C type lectin protein could make a better understanding of their role in the interaction of nematode parasite with their hosts.

Familial testicular cancer and developmental anomalies

International Nuclear Information System (INIS)

Ondrus, D.; Kuba, D.; Chrenova, S.; Matoska, J.

1997-01-01

Familial occurrence belongs to factors followed in etiology and pathogenesis of testicular germ-cell tumors. Association with abnormal testicular development, or with other risk factors is relatively frequent. In our material 650 patients had been treated for testicular cancer in the period of 1981-1995. Familial occurrence was observed 7-times (1.08), most frequently in combination with cryptorchidism. Individual families were analyzed in details, including HLA typing. On basis of the observations the supplementation of initial examination of each patient with suspicious testicular cancer with detailed familiar history aimed also at the occurrence of urogenital developmental anomalies and tumors has been recommended. The knowledge about familial tumor occurrence in the first-degree relatives in combination with thorough testicular self-examination is being considered of great importance in the secondary prevention. (author)

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.

Work-family spillover among Japanese dual-earner couples: a large community-based study

NARCIS (Netherlands)

Shimada, K.; Shimazu, A.; Bakker, A.B.; Demerouti, E.; Kawakami, N.

2010-01-01

Objectives: To examine the effects of multiple types of work-family spillover (work-to-family negative spillover, WFNS; family-to-work negative spillover, FWNS; and work-family positive spillover, WFPS) on psychological distress among Japanese dual-earner couples with preschool children. Methods:

Blood pressure, magnesium and other mineral balance in two rat models of salt-sensitive, induced hypertension: effects of a non-peptide angiotensin II receptor type 1 antagonist.

Science.gov (United States)

Rondón, Lusliany Josefina; Marcano, Eunice; Rodríguez, Fátima; del Castillo, Jesús Rafael

2014-01-01

The renin-angiotensin system is critically involved in regulating arterial blood pressure (BP). Inappropriate angiotensin type-1 receptor activation by angiotensin-II (Ang-II) is related to increased arterial BP. Mg has a role in BP; it can affect cardiac electrical activity, myocardial contractility, and vascular tone. To evaluate the relationship between high BP induced by a high sodium (Na) diet and Mg, and other mineral balances, two experimental rat models of salt-sensitive, induced-hypertension were used: Ang-II infused and Dahl salt-sensitive (SS) rats. We found that: 1) Ang-II infusion progressively increased BP, which was accompanied by hypomagnesuria and signs of secondary hyperaldosteronism; 2) an additive effect between Ang-II and a high Na load may have an effect on strontium (Sr), zinc (Zn) and copper (Cu) balances; 3) Dahl SS rats fed a high Na diet had a slow pressor response, accompanied by altered Mg, Na, potassium (K), and phosphate (P) balances; and 4) losartan prevented BP increases induced by Ang II-NaCl, but did not modify mineral balances. In Dahl SS rats, losartan attenuated high BP and ameliorated magnesemia, Na and K balances. Mg metabolism maybe considered a possible defect in this strain of rat that may contribute to hypertension.

Phenotypic concordance in familial inflammatory bowel disease (IBD). Results of a nationwide IBD Spanish database.

Science.gov (United States)

Cabré, Eduard; Mañosa, Míriam; García-Sánchez, Valle; Gutiérrez, Ana; Ricart, Elena; Esteve, Maria; Guardiola, Jordi; Aguas, Mariam; Merino, Olga; Ponferrada, Angel; Gisbert, Javier P; Garcia-Planella, Esther; Ceña, Gloria; Cabriada, José L; Montoro, Miguel; Domènech, Eugeni

2014-07-01

Disease outcome has been found to be poorer in familial inflammatory bowel disease (IBD) than in sporadic forms, but assessment of phenotypic concordance in familial IBD provided controversial results. We assessed the concordance for disease type and phenotypic features in IBD families. Patients with familial IBD were identified from the IBD Spanish database ENEIDA. Families in whom at least two members were in the database were selected for concordance analysis (κ index). Concordance for type of IBD [Crohn's disease (CD) vs. ulcerative colitis (UC)], as well as for disease extent, localization and behaviour, perianal disease, extraintestinal manifestations, and indicators of severe disease (i.e., need for immunosuppressors, biological agents, and surgery) for those pairs concordant for IBD type, were analyzed. 798 out of 11,905 IBD patients (7%) in ENEIDA had familial history of IBD. Complete data of 107 families (231 patients and 144 consanguineous pairs) were available for concordance analyses. The youngest members of the pairs were diagnosed with IBD at a significantly younger age (p<0.001) than the oldest ones. Seventy-six percent of pairs matched up for the IBD type (κ=0.58; 95%CI: 0.42-0.73, moderate concordance). There was no relevant concordance for any of the phenotypic items assessed in both diseases. Familial IBD is associated with diagnostic anticipation in younger individuals. Familial history does not allow predicting any phenotypic feature other than IBD type. Copyright © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Science.gov (United States)

Audo, Isabelle; Bujakowska, Kinga; Mohand-Saïd, Saddek; Tronche, Sophie; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Lonjou, Christine; Carpentier, Wassila; Sahel, José-Alain; Bhattacharya, Shomi; Zeitz, Christina

2011-01-01

To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition. A detailed ophthalmic and auditory examination was performed on a Portuguese patient with severe autosomal recessive rod-cone dystrophy. Known genetic defects were excluded by performing autosomal recessive retinitis pigmentosa (arRP) genotyping microarray analysis and by Sanger sequencing of the coding exons and flanking intronic regions of eyes shut homolog-drosophila (EYS) and chromosome 2 open reading frame 71 (C2orf71). Subsequently, genome-wide homozygosity mapping was performed in DNA samples from available family members using a 700K single nucleotide polymorphism (SNP) microarray. Candidate genes present in the significantly large homozygous regions were screened for mutations using Sanger sequencing. The largest homozygous region (~11 Mb) in the affected family members was mapped to chromosome 9, which harbors deafness, autosomal recessive 31 (DFNB31; a gene previously associated with Usher syndrome). Mutation analysis of DFNB31 in the index patient identified a novel one-base-pair deletion (c.737delC), which is predicted to lead to a truncated protein (p.Pro246HisfsX13) and co-segregated with the disease in the family. Ophthalmic examination of the index patient and the affected siblings showed severe rod-cone dystrophy. Pure tone audiometry revealed a moderate hearing loss in the index patient, whereas the affected siblings were reported with more profound and early onset hearing impairment. We report a novel truncating mutation in DFNB31 associated with severe rod-cone dystrophy and varying degrees of hearing impairment in a consanguineous family of Portuguese origin. This is the second report of DFNB31 implication in Usher type 2.

Modelling Configuration Knowledge in Heterogeneous Product Families

DEFF Research Database (Denmark)

Queva, Matthieu Stéphane Benoit; Männistö, Tomi; Ricci, Laurent

2011-01-01

Product configuration systems play an important role in the development of Mass Customisation. The configuration of complex product families may nowadays involve multiple design disciplines, e.g. hardware, software and services. In this paper, we present a conceptual approach for modelling...... the variability in such heterogeneous product families. Our approach is based on a framework that aims to cater for the different stakeholders involved in the modelling and management of the product family. The modelling approach is centred around the concepts of views, types and constraints and is illustrated...... by a motivation example. Furthermore, as a proof of concept, a prototype has been implemented for configuring a non-trivial heterogeneous product family....

Unfinished Business in Families of Terminally Ill With Cancer Patients.

Science.gov (United States)

Yamashita, Ryoko; Arao, Harue; Takao, Ayumi; Masutani, Eiko; Morita, Tatsuya; Shima, Yasuo; Kizawa, Yoshiyuki; Tsuneto, Satoru; Aoyama, Maho; Miyashita, Mitsunori

2017-12-01

Unfinished business often causes psychological issues after bereavement. Providing care for families of terminally ill patients with cancer to prevent unfinished business is important. To clarify the prevalence and types of unfinished business in families of end-of-life patients with cancer admitted to palliative care units (PCUs), explore depression and grief associated with unfinished business, and explore the factors affecting unfinished business. We conducted a cross-sectional, anonymous, self-report questionnaire survey with 967 bereaved families of patients with cancer admitted to PCUs. The questionnaire assessed the presence or the absence of unfinished business, content of unfinished business, depression, grief, process of preparedness, condition of the family and patient, and the degree of involvement of health care professionals. Questionnaires were sent to 967 families, and 73.0% responded. In total, 26.0% of families had some unfinished business, with improvement of the patient-family relationship being a common type of unfinished business. Families with unfinished business had significantly higher depression and grief scores after bereavement compared with those without. Factors that influenced the presence or the absence of unfinished business were preparedness for the patient's death (P = 0.001), discussion between the patient and family about the disease trajectory and way to spend daily life (P business. Health care professionals should coordinate the appropriate timing for what the family wishes to do, with consideration of family dynamics, including the family's preparedness, communication pattern, and relationships. Copyright © 2017 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Science.gov (United States)

Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

2014-08-01

To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

Gender disparities among the association between cumulative family-level stress & adolescent weight status.

Science.gov (United States)

Hernandez, Daphne C; Pressler, Emily

2015-04-01

To investigate precursors to gender-related obesity disparities by examining multiple family-level stress indices. Analyses was based on adolescents born between 1975 and 1991 to women from the 1979 National Longitudinal Study of Youth data set (N=4762). Three types of family-level stressors were captured from birth to age 15: family disruption and conflict, financial strain, and maternal risky health behaviors, along with a total cumulative risk index. Body mass index was constructed on reference criteria for children outlined by the Centers for Disease Control. Multivariate logistic regressions were conducted for the three types of family stressors and for the total cumulative index. The accumulation of family disruption and conflict and financial stress was positively related to female adolescents being overweight/obese. Childhood exposure to maternal risky health behaviors was positively associated with higher weight status for male adolescents. Total cumulative stress was related to overweight/obesity for females, but not males. Different family-level stress indices are associated with the weight status of female and male adolescents. Combining types of family-level stress into one cumulative index appears to mask these differences. Copyright © 2015 Elsevier Inc. All rights reserved.

Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

Science.gov (United States)

Ozer, Suzan; Uluşahin, Aylin; Ulusoy, Semra; Okur, Hamza; Coşkun, Turgay; Tuncali, Timur; Göğüş, Ahmet; Akarsu, A Nurten

2004-03-01

The vitamin D hypothesis of schizophrenia is a recent concept bringing together old observations on environmental risk factors and new findings on the neurodevelopmental effects of vitamin D. Candidate genes related to the vitamin D endocrine system have not yet been fully explored for this purpose. The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) and different forms of psychosis in the same inbred family has provided us with an opportunity to investigate the presumed relationship between vitamin D deficiency and psychosis. Psychiatric examination and molecular genetic studies were performed in this family overloaded with psychotic disorders and VDDR IIA. Forty members were evaluated in order to describe their phenotypic features. The family was tested for a linkage to the chromosome 12q12-q14 region where the vitamin D receptor (VDR) gene is located. Psychosis was the common phenotype in the 18 psychiatrically affected members. Pedigree analysis did not show a cosegregation of psychosis and rickets. Lod scores were not significant to prove a linkage between psychosis and VDR locus. The authors concluded that (1) the neurodevelopmental consequences of vitamin D deficiency do not play a causative role in psychotic disorders, (2) these two syndromes are inherited independently, and (3) vitamin D deficiency does not act as a risk factor in subjects susceptible to psychosis.

Understanding the relationship between family communication and the development of weight stigma

Directory of Open Access Journals (Sweden)

Mary Beth Asbury

2016-02-01

Full Text Available Background This study examined the relationship between family communication and weight stigma. The Family Communication Patterns Theory was used as a framework to explain the relationships between two dimensions of family communication (i.e., conversation orientation and conformity orientation and antifat attitudes (i.e., physical unattractiveness and weight blame. Participants and procedure A total of 585 college-aged participants completed an on-line questionnaire. We used the following instruments: body mass index (BMI, Antifat Attitudes Scale (AFAT, Revised Family Communication Patterns Scale (RFCP. Results Significant relationships were found between the two dimensions of family communication and antifat attitudes. Conversation orientation was negatively associated with antifat attitudes and conformity orientation was positively associated with antifat attitudes. In addition, pluralistic families were less likely to stigmatize the overweight and obese by demonstrating less discrimination with physical attraction and personal weight blame. Conclusions These findings highlight the important association between family communication and antifat attitudes. Families that endorse a pluralistic family type (i.e., high conversation orientation and low conformity orientation appear to engage in the least amount of discrimination with regard to weight stigma. These families are not only less discriminating of others, they perhaps bring about more awareness and information to family members as compared to other family types.

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Science.gov (United States)