Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy

Directory of Open Access Journals (Sweden)

Ezra Y. Koh

2016-01-01

Full Text Available We describe two cases of endometrial cancer (EC occurring in nulligravid twin sisters with myotonic dystrophy. Both tested negative for Lynch syndrome and both were treated with laparoscopic hysterectomy with bilateral salpingooophorectomy and adjuvant radiotherapy. Although EC tends to run in families, the diagnosis in itself is not considered sufficient cause for screening or prophylactic measures in close relatives. However, the presence of additional risk factors, such as nulligravidity and myotonic dystrophy in the underlying cases, may call for extra vigilance in first-degree family members.

Consumerism and the Sister Carrie's American Dream%Consumerism and the Sister Carrie''s American Dream

Institute of Scientific and Technical Information of China (English)

卢亚丽

2017-01-01

From the aspect of consumerism to this text analyze Sister Carrie's"American dream"destruction. The author wholly and deeply analyzes the embodiment of consumerism in Dreiser's Sister Carrie and Dreiser's outlook and values under the effect of consumerism. To prove that the reason for destruction of Carrie's American dream is consumerism.

Somatomedin C deficiency in Asian sisters.

OpenAIRE

McGraw, M E; Price, D A; Hill, D J

1986-01-01

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

Social Functioning among Girls with Fragile X or Turner Syndrome and Their Sisters.

Science.gov (United States)

Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.

1998-01-01

Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)

Subcortical laminar heterotopia in two sisters and their mother : MRI, clinical findings and pathogenesis

NARCIS (Netherlands)

van der Valk, PHM; Snoeck, [No Value; Meiners, LC; des Portes, [No Value; Chelly, J; Pinard, JM; Ippel, PF; van Nieuwenhuizen, O

MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented. On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was

Eruptive history of South Sister, Oregon Cascades

Science.gov (United States)

Fierstein, J.; Hildreth, W.; Calvert, A.T.

2011-01-01

South Sister is southernmost and highest of the Three Sisters, three geologically dissimilar stratovolcanoes that together form a spectacular 20km reach along the Cascade crest in Oregon. North Sister is a monotonously mafic edifice as old as middle Pleistocene, Middle Sister a basalt-andesite-dacite cone built between 48 and 14ka, and South Sister is a basalt-free edifice that alternated rhyolitic and intermediate modes from 50ka to 2ka (largely contemporaneous with Middle Sister). Detailed mapping, 330 chemical analyses, and 42 radioisotopic ages show that the oldest exposed South Sister lavas were initially rhyolitic ~50ka. By ~37ka, rhyolitic lava flows and domes (72-74% SiO2) began alternating with radially emplaced dacite (63-68% SiO2) and andesite (59-63% SiO2) lava flows. Construction of a broad cone of silicic andesite-dacite (61-64% SiO2) culminated ~30ka in a dominantly explosive sequence that began with crater-forming andesitic eruptions that left fragmental deposits at least 200m thick. This was followed at ~27ka by growth of a steeply dipping summit cone of agglutinate-dominated andesite (56-60.5% SiO2) and formation of a summit crater ~800m wide. This crater was soon filled and overtopped by a thick dacite lava flow and then by >150m of dacitic pyroclastic ejecta. Small-volume dacite lavas (63-67% SiO2) locally cap the pyroclastic pile. A final sheet of mafic agglutinate (54-56% SiO2) - the most mafic product of South Sister - erupted from and drapes the small (300-m-wide) present-day summit crater, ending a summit-building sequence that lasted until ~22ka. A 20kyr-long-hiatus was broken by rhyolite eruptions that produced (1) the Rock Mesa coulee, tephra, and satellite domelets (73.5% SiO2) and (2) the Devils Chain of ~20 domes and short coulees (72.3-72.8% SiO2) from N-S vent alignments on South Sister's flanks. The compositional reversal from mafic summit agglutinate to recent rhyolites epitomizes the frequently changing compositional modes of the

Longitudinal pathways linking family factors and sibling relationship qualities to adolescent substance use and sexual risk behaviors.

Science.gov (United States)

East, Patricia L; Khoo, Siek Toon

2005-12-01

This 3-wave, 5-year longitudinal study tested the contributions of family contextual factors and sibling relationship qualities to younger siblings' substance use, sexual risk behaviors, pregnancy, and sexually transmitted disease. More than 220 non-White families participated (67% Latino and 33% African American), all of which involved a younger sibling (133 girls and 89 boys; mean age = 13.6 years at Time 1) and an older sister (mean age = 17 years at Time 1). Results from structural equation latent growth curve modeling indicated that qualities of the sibling relationship (high older sister power, low warmth/closeness, and low conflict) mediated effects from several family risks (mothers' single parenting, older sisters' teen parenting, and family's receipt of aid) to younger sibling outcomes. Model results were generally stronger for sister-sister pairs than for sister-brother pairs. Findings add to theoretical models that emphasize the role of family and parenting processes in shaping sibling relationships, which, in turn, influence adolescent outcomes. Copyright 2006 APA, all rights reserved).

20 CFR 222.40 - When determinations of relationship are made for parent, grandchild, brother or sister.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false When determinations of relationship are made... RETIREMENT BOARD REGULATIONS UNDER THE RAILROAD RETIREMENT ACT FAMILY RELATIONSHIPS Relationship as Parent..., brother or sister. (a) Parent. The claimant's relationship as a parent of the employee is determined when...

Developing skills in clinical leadership for ward sisters.

Science.gov (United States)

Fenton, Katherine; Phillips, Natasha

The Francis report has called for a strengthening of the ward sister's role. It recommends that sisters should operate in a supervisory capacity and should not be office bound. Effective ward leadership has been recognised as being vital to high-quality patient care and experience, resource management and interprofessional working. However, there is evidence that ward sisters are ill equipped to lead effectively and lack confidence in their ability to do so. University College London Hospitals Foundation Trust has recognised that the job has become almost impossible in increasingly large and complex organisations. Ward sisters spend less than 40% of their time on clinical leadership and the trust is undertaking a number of initiatives to support them in this role.

Consumerism and the Sister Carrie's American Dream

Institute of Scientific and Technical Information of China (English)

卢亚丽

2017-01-01

From the aspect of consumerism to this text analyze Sister Carrie's"American dream"destruction. The author wholly and deeply analyzes the embodiment of consumerism in Dreiser's Sister Carrie and Dreiser's outlook and values under the effect of consumerism. To prove that the reason for destruction of Carrie's American dream is consumerism.

Separase Is Required for Homolog and Sister Disjunction during Drosophila melanogaster Male Meiosis, but Not for Biorientation of Sister Centromeres.

Science.gov (United States)

Blattner, Ariane C; Chaurasia, Soumya; McKee, Bruce D; Lehner, Christian F

2016-04-01

Spatially controlled release of sister chromatid cohesion during progression through the meiotic divisions is of paramount importance for error-free chromosome segregation during meiosis. Cohesion is mediated by the cohesin protein complex and cleavage of one of its subunits by the endoprotease separase removes cohesin first from chromosome arms during exit from meiosis I and later from the pericentromeric region during exit from meiosis II. At the onset of the meiotic divisions, cohesin has also been proposed to be present within the centromeric region for the unification of sister centromeres into a single functional entity, allowing bipolar orientation of paired homologs within the meiosis I spindle. Separase-mediated removal of centromeric cohesin during exit from meiosis I might explain sister centromere individualization which is essential for subsequent biorientation of sister centromeres during meiosis II. To characterize a potential involvement of separase in sister centromere individualization before meiosis II, we have studied meiosis in Drosophila melanogaster males where homologs are not paired in the canonical manner. Meiosis does not include meiotic recombination and synaptonemal complex formation in these males. Instead, an alternative homolog conjunction system keeps homologous chromosomes in pairs. Using independent strategies for spermatocyte-specific depletion of separase complex subunits in combination with time-lapse imaging, we demonstrate that separase is required for the inactivation of this alternative conjunction at anaphase I onset. Mutations that abolish alternative homolog conjunction therefore result in random segregation of univalents during meiosis I also after separase depletion. Interestingly, these univalents become bioriented during meiosis II, suggesting that sister centromere individualization before meiosis II does not require separase.

Sister chromatid exchange induced by X-irradiation of retinoblastoma lymphocytes

International Nuclear Information System (INIS)

Abramovsky-Kaplan, I.; Jones, I.S.

1984-01-01

Lymphocyte cultures were employed to assess the degree of spontaneous and induced chromosomal fragility in retinoblastoma. Sister chromatid exchange (SCEs) were scored in metaphases. Three unilateral, three bilateral, eleven family members and controls were studied. Retinoblastoma (RB) lymphocytes did not exhibit increased spontaneous fragility. X-irradiation (25-200 rad) did not significantly increase SCE in unilateral retinoblastoma lymphocytes when compared with controls (P greater than 0.50). However, bilaterally affected subjects and three unaffected relatives demonstrated a statistically significant increase in SCE (P less than 0.01). In conclusion, hereditary retinoblastoma lymphocytes appear more radiosensitive than sporadic retinoblastoma, perhaps, reflecting the increased second malignancies in germinal mutation retinoblastoma. In addition, the analysis of radiation-induced SCE in peripheral blood lymphocytes of RB patients and family members may provide a valuable tool increasing the accuracy of genetic counseling for this disorder. Additional studies of RB patients and families are needed to assess the relevance of this approach to genetic counseling

Improving Emotion Regulation and Sibling Relationship Quality: The More Fun with Sisters and Brothers Program

Science.gov (United States)

Kennedy, Denise E.; Kramer, Laurie

2008-01-01

We examined the role of emotion regulation (ER) in improving sibling relationship quality (SRQ) by evaluating the More Fun With Sisters and Brothers Program where 4- to 8-year-old siblings from 95 families were taught emotional and social competencies. Parents reported on SRQ and ER, and sibling interactions were observed in homes. SRQ and ER…

Mechanics of Sister Chromatids studied with a Polymer Model

Directory of Open Access Journals (Sweden)

Yang eZhang

2013-10-01

Full Text Available Sister chromatid cohesion denotes the phenomenon that sister chromatids are initially attached to each other in mitosis to guarantee the error-free distribution into the daughter cells. Cohesion is mediated by binding proteins and only resolved after mitotic chromosome condensation is completed. However, the amount of attachement points required to maintain sister chromatid cohesion while still allowing proper chromosome condensation is not known yet. Additionally the impact of cohesion on the mechanical properties of chromosomes also poses an interesting problem. In this work we study the conformational and mechanical properties of sister chromatids by means of computer simulations. We model both protein-mediated cohesion between sister chromatids and chromosome condensation with a dynamic binding mechanisms. We show in a phase diagram that only specific link concentrations lead to connected and fully condensed chromatids that do not intermingle with each other nor separate due to entropic forces. Furthermore we show that dynamic bonding between chromatids decrease the Young's modulus compared to non-bonded chromatids.

Ultraviolet-induced formation of micronuclei and sister chromatid exchange in cultured fibroblasts of patients with cutaneous malignant melanoma

International Nuclear Information System (INIS)

Roser, M.; Boehm, A.O.; Oldigs, M.; Weichenthal, M.; Reimers, U.; Schmidt-Preuss, U.; Breitbart, E.W.; Ruediger, H.W.

1989-01-01

Genetically enhanced sensitivity to ultraviolet (UV) radiation may play an important role in the development of cutaneous malignant melanoma (CMM). This was studied in cultured fibroblasts of 26 CMM patients and controls by micronucleus (MN) test and sister chromatid exchange (SCE) after UV irradiation (375 J/m2). Sister chromatid exchange and MN formation were used as parameters to detect the UV-induced genotoxic damage in the individual cell strains. We found that the UV-induced level of MN was significantly increased in CMM patients (p = 0.0005), being most pronounced in the familial cases (p = 0.0001). Ultraviolet-induced SCE was also elevated in CMM patients (p = 0.001), but there was no difference between familial and nonfamilial cases. The present findings indicate that genetic predisposition contributes to the development of CMM in a subset of CMM patients and may be due to an enhanced susceptibility to UV light

Familial short fifth metacarpals and insulin resistance

International Nuclear Information System (INIS)

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

2006-01-01

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

Uncoupling of Sister Replisomes during Eukaryotic DNA Replication

NARCIS (Netherlands)

Yardimci, Hasan; Loveland, Anna B.; Habuchi, Satoshi; van Oijen, Antoine M.; Walter, Johannes C.

2010-01-01

The duplication of eukaryotic genomes involves the replication of DNA from multiple origins of replication. In S phase, two sister replisomes assemble at each active origin, and they replicate DNA in opposite directions. Little is known about the functional relationship between sister replisomes.

Sister chromatid segregation in meiosis II

Science.gov (United States)

Wassmann, Katja

2013-01-01

Meiotic divisions (meiosis I and II) are specialized cell divisions to generate haploid gametes. The first meiotic division with the separation of chromosomes is named reductional division. The second division, which takes place immediately after meiosis I without intervening S-phase, is equational, with the separation of sister chromatids, similar to mitosis. This meiotic segregation pattern requires the two-step removal of the cohesin complex holding sister chromatids together: cohesin is removed from chromosome arms that have been subjected to homologous recombination in meiosis I and from the centromere region in meiosis II. Cohesin in the centromere region is protected from removal in meiosis I, but this protection has to be removed—deprotected”—for sister chromatid segregation in meiosis II. Whereas the mechanisms of cohesin protection are quite well understood, the mechanisms of deprotection have been largely unknown until recently. In this review I summarize our current knowledge on cohesin deprotection. PMID:23574717

Rate of Family Violence Among Patients With Schizophrenia in Japan.

Science.gov (United States)

Kageyama, Masako; Yokoyama, Keiko; Nagata, Satoko; Kita, Sachiko; Nakamura, Yukako; Kobayashi, Sayaka; Solomon, Phyllis

2015-09-01

Family violence is a serious concern in the era of deinstitutionalization in Japan. Consequently, we aimed to clarify the rate of family violence among patients with schizophrenia, and differences by sex and relationship to the patient. We asked households belonging to a family group association to complete a self-administered mail survey. Of 350 households that responded, data for 302 were analyzed. The rate of violence toward any family member was 60.9% over the lifetime and 27.2% in the past year. Order of lifetime rates for family members from highest to lowest was 51.0% for mothers, 47.0% for fathers, 30.7% for younger sisters, 23.8% for spouses, 19.5% for younger brothers, 18.2% for older sisters, 17.1% for older brothers, and none for children. Younger sisters were more likely to be victims compared to other siblings. Fathers and older brothers were likely to be victims when patients were male. © 2015 APJPH.

The Lehman Sisters Hypothesis

NARCIS (Netherlands)

I.P. van Staveren (Irene)

2014-01-01

markdownabstract__Abstract__ This article explores the Lehman Sisters Hypothesis. It reviews empirical literature about gender differences in behavioral, experimental, and neuro-economics as well as in other fields of behavioral research. It discusses gender differences along three dimensions of

Organization of Sisters of Mercy During World War One

Directory of Open Access Journals (Sweden)

Sribnaia Anna

2014-10-01

Full Text Available The article examines the labour organization of Russian sisters of mercy during World War One. The author indicates two periods which took place before and after the February Revolution. Based on archive documents and offi cial publications the article describes general structure of Russian Red Cross Society institutions and basic principles of sisters of mercy communities’ work. It examines the rules of new sisters’ employment, their training, service assignment and professional duties. The emphasis is put on nurses’ work in wartime. During first years of war sisters’ position was stable. Due to specifi c hierarchy in the managing structure sisters’ work was productive and demanded. After the February Revolution the managing system changed drastically as well as the status of sisters of mercy and their reception in society. The author gives a thorough examination of sisters’ position after reorganization of Russian Red Cross Society. In time of political instability Russian sisters of mercy were able to organize themselves into one big organization thus creating All-Russian Union of Sisters of Mercy. This article for the first time ever implements into scientific research a huge amount of documents which allowed a signifi cant extension of views on Bolsheviks’ political approaches to Russian Red Cross Society and institution of sisters of mercy.

"If I only touch her cloak": the Sisters of Charity of St. Joseph in New Orleans hospital, 1834-1860.

Science.gov (United States)

Kong, Hyejung Grace; Kim, Ock-Joo

2015-04-01

This study is about the Sisters of Charity of St. Joseph in New Orleans' Charity Hospital during the years between 1834 and 1860. The Sisters of Charity of St. Joseph was founded in 1809 by Saint Elizabeth Ann Bailey Seton (first native-born North American canonized in 1975) in Emmitsburg, Maryland. Seton's Sisters of Charity was the first community for religious women to be established in the United States and was later incorporated with the French Daughters of Charity of St. Vincent de Paul in 1850. A call to work in New Orleans' Charity Hospital in the 1830s meant a significant achievement for the Sisters of Charity, since it was the second oldest continuously operating public hospitals in the United States until 2005, bearing the same name over the decades. In 1834, Sister Regina Smith and other sisters were officially called to Charity Hospital, in order to supersede the existing "nurses, attendants, and servants," and take a complete charge of the internal management of Charity Hospital. The existing scholarship on the history of hospitals and Catholic nursing has not integrated the concrete stories of the Sisters of Charity into the broader histories of institutionalized medicine, gender, and religion. Along with a variety of primary sources, this study primarily relies on the Charity Hospital History Folder stored at the Daughters of Charity West Center Province Archives. Located in the "Queen city of the South," Charity Hospital was the center of the southern medical profession and the world's fair of people and diseases. Charity Hospital provided the sisters with a unique situation that religion and medicine became intertwined. The Sisters, as nurses, constructed a new atmosphere of caring for patients and even their families inside and outside the hospital, and built their own separate space within the hospital walls. As hospital managers, the Sisters of Charity were put in complete charge of the hospital, which was never seen in other hospitals. By

"Sister to the tailor"

DEFF Research Database (Denmark)

Simonton, Deborah

2017-01-01

Milliners, and their sisters, mantuamakers, modistes and marchandes de mode, were skilled artisans, businesswomen and tradeswomen. During the eighteenth century, they commandeered the high-class sewing that set fashion and created stars of their most famous, like Rose Bertrand, milliner to Marie...

Building International Relations for Children through Sister Schools.

Science.gov (United States)

Pryor, Carolyn B.

1992-01-01

Inspired by Sister Cities International and the NASSP's school-to-school exchange program, "sister school" pairings have proved to be workable educational programs with long-range impact on participants. Some post-cold war efforts include U.S.-USSR High School Academic Partnerships, Project Harmony, and Center for U.S.-USSR Initiatives.…

Familial placement of Wightia (Lamiales)

DEFF Research Database (Denmark)

Zhou, Qing-Mei; Jensen, Søren Rosendal; Liu, Guo-Li

2014-01-01

The familial placement of Wightia has long been a problem. Here, we present a comprehensive phylogenetic inspection of Wightia based on noncoding chloroplast loci (the rps16 intron and the trnL–F region) and nuclear ribosomal internal transcribed spacer, and on chemical analysis. A total of 70...... samples (including 51 genera from 13 families of Lamiales) were employed in a molecular study. Phylograms suggest that Wightia is sister to Paulownia or Phrymaceae; species tree shows Wightia and Paulownia are sister groups which clustered with Phrymaceae in an unresolved clade. Chemical evidence shows...... affinity of Wightia to Paulowniaceae. With the addition of morphological, palynological and ecological characters, we suppose a familial position of Wightia belonging to or close to Paulowniaceae. Brandisia (a member of Orobanchaceae) does not have a close relationship with Wightia....

Sister kinetochores are mechanically fused during meiosis I in yeast.

Science.gov (United States)

Sarangapani, Krishna K; Duro, Eris; Deng, Yi; Alves, Flavia de Lima; Ye, Qiaozhen; Opoku, Kwaku N; Ceto, Steven; Rappsilber, Juri; Corbett, Kevin D; Biggins, Sue; Marston, Adèle L; Asbury, Charles L

2014-10-10

Production of healthy gametes requires a reductional meiosis I division in which replicated sister chromatids comigrate, rather than separate as in mitosis or meiosis II. Fusion of sister kinetochores during meiosis I may underlie sister chromatid comigration in diverse organisms, but direct evidence for such fusion has been lacking. We used laser trapping and quantitative fluorescence microscopy to study native kinetochore particles isolated from yeast. Meiosis I kinetochores formed stronger attachments and carried more microtubule-binding elements than kinetochores isolated from cells in mitosis or meiosis II. The meiosis I-specific monopolin complex was both necessary and sufficient to drive these modifications. Thus, kinetochore fusion directs sister chromatid comigration, a conserved feature of meiosis that is fundamental to Mendelian inheritance. Copyright © 2014, American Association for the Advancement of Science.

Sister Mary Emil Penet, I.H.M.: Founder of the Sister Formation Conference

Science.gov (United States)

Glisky, Joan

2006-01-01

Mary Emil Penet, I.H.M., (1916-2001) used her talents and charisma to shape the first national organization of American women religious, the Sister Formation Conference (SFC; 1954-1964), facilitating the integrated intellectual, spiritual, psychological, and professional development of vowed women religious. In the decade preceding Vatican II, her…

Splitting the chromosome: cutting the ties that bind sister chromatids.

Science.gov (United States)

Nasmyth, K; Peters, J M; Uhlmann, F

2001-01-01

In eukaryotic cells, replicated DNA molecules remain physically connected from their synthesis in S phase until they are separated during anaphase. This phenomenon, called sister chromatid cohesion, is essential for the temporal separation of DNA replication and mitosis and for the equal separation of the duplicated genome. Recent work has identified a number of chromosomal proteins required for cohesion. In this review we discuss how these proteins may connect sister chromatids and how they are removed from chromosomes to allow sister chromatid separation at the onset of anaphase.

Three Sisters Dam modifications and performance

Energy Technology Data Exchange (ETDEWEB)

Courage, L.J.R. [Monenco AGRA Inc., Calgary, AB (Canada)

1995-12-31

Recent modifications and maintenance carried out at the Three Sisters Dam, in the Alberta Rockies south of the town of Canmore, were described. A detailed account was given of the dam`s geological setting, its abnormally high leakage through the foundation and its sinkhole activity. Results of studies aimed at finding the cause of leakage and sinkhole occurrences were reviewed. Modifications made to the dam since 1951 were detailed, as were modifications to handle probable maximum flood levels. Three approaches for estimating failure probabilities after identification of failure modes were described. The overall conclusion was that based on constant leakage, no settlement in the dam, penstocks, or the powerhouse since construction, the Three Sisters Dam was stable. 1 ref.

Reconstitution of Nucleosomes with Differentially Isotope-labeled Sister Histones.

Science.gov (United States)

Liokatis, Stamatios

2017-03-26

Asymmetrically modified nucleosomes contain the two copies of a histone (sister histones) decorated with distinct sets of Post-translational Modifications (PTMs). They are newly identified species with unknown means of establishment and functional implications. Current analytical methods are inadequate to detect the copy-specific occurrence of PTMs on the nucleosomal sister histones. This protocol presents a biochemical method for the in vitro reconstitution of nucleosomes containing differentially isotope-labeled sister histones. The generated complex can be also asymmetrically modified, after including a premodified histone pool during refolding of histone subcomplexes. These asymmetric nucleosome preparations can be readily reacted with histone-modifying enzymes to study modification cross-talk mechanisms imposed by the asymmetrically pre-incorporated PTM using nuclear magnetic resonance (NMR) spectroscopy. Particularly, the modification reactions in real-time can be mapped independently on the two sister histones by performing different types of NMR correlation experiments, tailored for the respective isotope type. This methodology provides the means to study crosstalk mechanisms that contribute to the formation and propagation of asymmetric PTM patterns on nucleosomal complexes.

In pursuit of sisterhood: adult siblings as a resource for combined individual and family therapy.

Science.gov (United States)

Kahn, M D; Bank, S

1981-03-01

Therapists traditionally view brothers and sisters as rivalrous and self-seeking. Under carefully arranged conditions, however, siblings can learn to cooperate with each other to resolve important conflicts in family relationships. This case documents a dramatic change in the relationship between a 29-year-old woman and her father, the outcome of a three-step therapeutic intervention in which sibling dynamics were selectively used by the psychotherapist. As part of her individual therapy, the therapist first aroused the woman's discontent with her status as the neglected "baby of the family." Next, a series of meetings were held with the woman and her three sisters that permitted resolution of their previous anger and misunderstandings, thus helping them to become a more cohesive group of sisters. The third step brought the sisters, now as allies both of the identified patient and of the therapist, into a constructive confrontation with the parents. This resulted in lasting personal change for the identified patient and improved relationships throughout the entire family.

Epigenetic differences between sister chromatids?

NARCIS (Netherlands)

Lansdorp, Peter M.; Falconer, Ester; Tao, Jiang; Brind'Amour, Julie; Naumann, Ulrike; Kanz, L; Fibbe, WE; Lengerke, C; Dick, JE

2012-01-01

Semi-conservative replication ensures that the DNA sequence of sister chromatids is identical except for replication errors and variation in the length of telomere repeats resulting from replicative losses and variable end processing. What happens with the various epigenetic marks during DNA

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Science.gov (United States)

Diniz, Gulden; Secil, Yaprak; Ceylaner, Serdar; Tokucoglu, Figen; Türe, Sabiha; Celebisoy, Mehmet; İncesu, Tülay Kurt; Akhan, Galip

2016-01-01

Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait. Her younger sister was 36 years old and had similar symptoms. The first symptoms of the disorder were seen when the sisters were 30 and 34 years old, respectively. The muscle biopsy showed primary myopathic features and presence of rimmed vacuoles. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes. Conclusion. Based on our literature survey, we believe that ours is the first confirmed case of primary GNE myopathy with a novel missense mutation in Turkey. These patients illustrate that the muscle biopsy is still an important method for the differential diagnosis of vacuolar myopathies in that the detection of inclusions is required for the definitive diagnosis. PMID:27298745

Does Women’s Preference for Highbrow Culture Begin in the Family?

DEFF Research Database (Denmark)

Jæger, Mads Meier; Katz-Gerro, Tally

2015-01-01

participation among brothers and sisters from the same family and report three findings: (1) gender differences in highbrow leisure participation are largely unrelated to family background, (2) there is little evidence that parents engage in gender-specific cultural socialization, and (3) socioeconomic position......Research shows that women are more likely than men to participate in highbrow leisure activities, but we do not know whether this gap develops within the family at an early age or is the outcome of socioeconomic differences between men and women later in life. We compare highbrow leisure...... and family obligations account for less than 20% of brother-sister differences in highbrow leisure participation. Our results suggest that gender differences in highbrow leisure participation originate in factors outside the family....

Geographic variance of cardiovascular risk factors among community women: the national Sister to Sister campaign.

Science.gov (United States)

Jarvie, Jennifer L; Johnson, Caitlin E; Wang, Yun; Wan, Yun; Aslam, Farhan; Athanasopoulos, Leonidas V; Pollin, Irene; Foody, JoAnne M

2011-01-01

There are substantial variations in cardiovascular disease (CVD) risk and outcomes among women. We sought to determine geographic variation in risk factor prevalence in a contemporary sample of U.S. women. Using 2008-2009 Sister to Sister (STS) free heart screening data from 17 U.S. cities, we compared rates of obesity (body mass index [BMI] ≥30 kg/m(2)), hypertension (HTN ≥140/90 mm Hg), low high-density lipoprotein cholesterol (HDL-C cities had higher rates of hyperglycemia and low HDL-C. In a large, community-based sample of women nationwide, this comprehensive analysis shows remarkable geographic variation in risk factors, which provides opportunities to improve and reduce a woman's CVD risk. Further investigation is required to understand the reasons behind such variation, which will provide insight toward tailoring preventive interventions to narrow gaps in CVD risk reduction in women.

Adolescent Siblings of Individuals with and without Intellectual and Developmental Disabilities: Self-Reported Empathy and Feelings about Their Brothers and Sisters

Science.gov (United States)

Shivers, Carolyn M.; Dykens, Elisabeth M.

2017-01-01

Siblings of brothers or sisters with intellectual and developmental disabilities (IDD) are important but understudied family members. As many previous studies have relied on parent report of sibling outcomes, the use of sibling self-report is an important addition to the research. This study assessed the feelings of adolescent siblings toward…

Dam safety at Seven Sisters Generating Station

International Nuclear Information System (INIS)

Carson, R. W.; Gupta, R. C.

1996-01-01

A safety surveillance program for all hydraulic structures in Manitoba was first implemented in 1979, and updated in 1988. This contribution describes the current status of the program, and the nature of the issues that the program was designed to address. The Seven Sisters Station's dam on the Winnipeg River, about 90 km northeast of the City of Winnipeg, was used as an example. Extensive reviews of flood risks and downstream inundation potential at Seven Sisters' revealed a number of deficiencies; these findings will be incorporated into a corporate plan of overall remediation. Updating the program will also include efforts to ensure adherence to national dam safety guidelines. 5 figs

Benign multicystic mesothelioma: a case report of three sisters

Directory of Open Access Journals (Sweden)

Thomas Rutherford

2009-12-01

Full Text Available Benign multicystic mesothelioma (BMCM is a rare tumor of the abdomen-peritoneum of unknown etiology. This benign tumor was initially described by Plaut in 1928 when he observed loose cysts in the pelvis during a surgery for a uterine leiomyoma.2 The mesothelial origin was later confirmed by electron micro-scopy by Mennemeyer and Smith in 1979.3 To date, there are approximately 140 cases of BMCM reported in the literature.4 This disease primarily occurs in pre-menopausal women and is associated with a history of pelvic inflammatory disease, prior abdominal surgery, and endometriosis.4,5 The pathogenesis of this disease remains controversial, with possible etiologies including a neoplastic versus a reactive process.5 In the literature, a few case reports discuss a possible genetic or familial association with BMCM.6 Specifically, one report describes a man with familial Mediterranean fever who developed BMCM. Although familial Mediter-ranean fever is associated with malignant mesothelioma, he had only BMCM, and did not suffer from malignant mesothelioma.6 A genetic evaluation and chromosomal analysis were not able to identify a specific genetic cause of the family’s pattern of disease. This case report describes two female siblings diagnosed with BMCM. In addition, a third sister also had findings consistent with BMCM, however, the discrete histological diagnosis was never confirmed.

Association between adolescent pregnancy and a family history of teenage births.

Science.gov (United States)

East, Patricia L; Reyes, Barbara T; Horn, Emily J

2007-06-01

The extent to which young women's risk of adolescent pregnancy is associated with having a mother who was a teenage parent, a sister who was a teenage parent or both is not known. A sample of 127 Latina and black adolescent females completed in-depth surveys at three time points between 1994 and 2000. Logistic regression analyses were used to examine whether socioeconomic factors, mothers' parenting characteristics and certain sibling relationship qualities explain the association between a family history of teenage births and young women's risk of pregnancy. Compared with young women with no family history of teenage births, young women whose sister had had a teenage birth and those whose sister and mother both had had teenage births were significantly more likely to experience a teenage pregnancy (odds ratios, 4.8 and 5.1, respectively). Young women who had only a sister who had had a teenage birth had greater odds of pregnancy than young women who had only a mother who had had a teenage birth (4.5). Having both a mother and a sister who had had teenage births was independently associated with an elevated risk of pregnancy (3.7), even after controlling for socioeconomic and mothers' parenting characteristics. Frequent companionship with an older sister was associated with increased odds of teenage pregnancy (4.5); frequent conflict with an older sister who had had a teenage birth was marginally associated with decreased odds of the outcome (0.3). Pregnancy prevention interventions targeting young women according to maternal and sibling teenage birth histories may be effective.

Family perspectives about Down syndrome.

Science.gov (United States)

Skotko, Brian G; Levine, Susan P; Macklin, Eric A; Goldstein, Richard D

2016-04-01

National medical organizations recommend that during prenatal counseling sessions, healthcare providers discuss how having a child with Down syndrome (DS) might impact the family unit. Few studies, to date, have surveyed families about their life experiences. For this investigation, we examined 41 family attitudes, which were obtained from mailed questionnaires completed by 1,961 parents/guardians, 761 brothers/sisters, and 283 people with DS who were members of six DS non-profit organizations, chosen for their size, ethnic/racial diversities, and geographic distribution throughout the United States. About 83% of families reported to all being proud of the family member with DS, and 87% reported to all feeling love for the member with DS. Younger siblings (ages 9-11) were more likely to feel embarrassed by their sibling with DS if their parents/guardians also did. If one or more parents/guardians felt that their children without DS did have a good relationship with their child with DS, siblings were more likely to report that they loved and liked their brother/sister with DS. Overall, our data demonstrate that positive themes tend to dominate within modern-day families who have members with DS, although challenges were not insignificant for some. © 2015 Wiley Periodicals, Inc.

FAMILIAL ALOPECIA ARETA, ATOPY AND THYROIDITIS HASHIMOTO

Directory of Open Access Journals (Sweden)

Ani Tsvetanova

2004-10-01

Full Text Available We present a case of morbid association of two organ-specific autoimmune diseases (Alopecia areata-AA and Thyreoiditis Hashimoto-TH in two white sisters - 23 and 26 years old. There is no family history of AA or any autoimmune disorders. The onset of AA, in the both sisters was in early childhood (3 and 7 years of age. The clinical and laboratory examinations showed engagement of the scalp with round or oval large patches of alopecia, without involvement of the body hairs and nails. There were also alterations of thyroid gland function, positive TMA (Thyroid Microsomal Antibodies and Rö-data of Pituitary adenoma as well as episodes of allergic rhinitis (in one of the sisters, and bronchial asthma (in the other. According to Ikeda’s classification, they have an "Atopic type" AA. We suppose that the observed case is not an occasional coincidence of AA and TH. HLA Aw32B18 determination could be support our suggesting about the familial pattern of these autoimmune diseases.

Exome sequencing in a breast canner family without BRCA mutation

Energy Technology Data Exchange (ETDEWEB)

Noh, Jae Myoung; Choi, Doo Ho; Park, Won; Huh, Seung Jae [Dept. of Radiation Oncology, amsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Kim, Ji Hun; Cho, Dae Yeon [LabGenomics Clinical Research Institute, LabGenomics, Seongnam (Korea, Republic of)

2015-06-15

We performed exome sequencing in a breast cancer family without BRCA mutations. A family that three sisters have a history of breast cancer was selected for analysis. There were no family members with breast cancer in the previous generation. Genetic testing for BRCA mutation was negative, even by the multiplex ligation-dependent probe amplification method. Two sisters with breast cancer were selected as affected members, while the mother of the sisters was a non-affected member. Whole exome sequencing was performed on the HiSeq 2000 platform with paired-end reads of 101 bp in the three members. We identified 19,436, 19,468, and 19,345 single-nucleotide polymorphisms (SNPs) in the coding regions. Among them, 8,759, 8,789, and 8,772 were non-synonymous SNPs, respectively. After filtering out 12,843 synonymous variations and 12,105 known variations with indels found in the dbSNP135 or 1000 Genomes Project database, we selected 73 variations in the samples from the affected sisters that did not occur in the sample from the unaffected mother. Using the Sorting Intolerant From Tolerant (SIFT), PolyPhen-2, and MutationTaster algorithms to predict amino acid substitutions, the XCR1, DLL1, TH, ACCS, SPPL3, CCNF, and SRL genes were risky among all three algorithms, while definite candidate genes could not be conclusively determined. Using exome sequencing, we found 7 variants for a breast cancer family without BRCA mutations. Genetic evidence of disease association should be confirmed by future studies.

20 CFR 725.225 - Determination of dependency; parent, brother, or sister.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Determination of dependency; parent, brother, or sister. 725.225 Section 725.225 Employees' Benefits EMPLOYMENT STANDARDS ADMINISTRATION... Benefits) § 725.225 Determination of dependency; parent, brother, or sister. An individual who is the miner...

Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.

Science.gov (United States)

Baldinotti, Fulvia; Cavallaro, Tiziana; Dati, Eleonora; Baroncelli, Giampiero I; Bertini, Veronica; Valetto, Angelo; Massart, Francesco; Fabrizi, Gian Maria; Zanette, Giampietro; Peroni, Diego; Bertelloni, Silvano

2018-01-01

In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed. A comparative genomic hybridization array was also performed. In both the 46,XY and 46,XX sisters, a homozygous c.554C>A mutation in exon 2 of the DHH gene was found, determining a premature termination codon (p.Ser 185*). Heterozygous consanguineous carrier parents showed neither reproductive problems nor peripheral neuropathy. In the proband and her sister, a 499-kb duplication in 9p22.1 was also found. A 46,XY European woman with 46,XY GD and a novel homozygous DHH pathogenic variant is reported, confirming that this gene plays a key role in male gonadal development. Her 46,XX sister, harboring the same mutation, showed normal internal and external female phenotype. Thus, DHH seems not to be involved in the ovarian development pathway or its postpubertal function. Homozygous DHH mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes. © 2018 S. Karger AG, Basel.

[Florence Nightingale and charity sisters: revisiting the history].

Science.gov (United States)

Padilha, Maria Itayra Coelho de Souza; Mancia, Joel Rolim

2005-01-01

This study presents an historical analysis on the links between the nursing practice and the influence received from various religious orders/associations along the times, especially from Saint Vincent Paul's charity sisters. The professional nursing which was pioneered by Florence Nightingale in the XlXth century, was directly influenced by the teachings of love and fraternity. In addition, other contributions from the religious orders/associations were the concepts of altruism, valorization of an adequate environment for the care of patients, and the division of work in nursing. The study shows the influence of Charity Sisters on Florence Nightingale.

Friel and his "sisters"

Directory of Open Access Journals (Sweden)

Nicholas Grene

2010-11-01

Full Text Available This essay, occasioned by a revival of Brian Friel's version of Chekhov's Three Sisters at the Abbey Theatre in 2008, considers the circumstances surrounding its first production by the Field Day Theatre Company in 1981, and the motivation behind the decision to translate Chekhov's text into a specifically Irish dialect of English. It also analyses how Friel's plays since that date, notably the award-winning Dancing at Lughnasa (1990, have changed our perspective on the play.

Frequent and efficient use of the sister chromatid for DNA double-strand break repair during budding yeast meiosis.

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Tamara Goldfarb

2010-10-01

Full Text Available Recombination between homologous chromosomes of different parental origin (homologs is necessary for their accurate segregation during meiosis. It has been suggested that meiotic inter-homolog recombination is promoted by a barrier to inter-sister-chromatid recombination, imposed by meiosis-specific components of the chromosome axis. Consistent with this, measures of Holliday junction-containing recombination intermediates (joint molecules [JMs] show a strong bias towards inter-homolog and against inter-sister JMs. However, recombination between sister chromatids also has an important role in meiosis. The genomes of diploid organisms in natural populations are highly polymorphic for insertions and deletions, and meiotic double-strand breaks (DSBs that form within such polymorphic regions must be repaired by inter-sister recombination. Efforts to study inter-sister recombination during meiosis, in particular to determine recombination frequencies and mechanisms, have been constrained by the inability to monitor the products of inter-sister recombination. We present here molecular-level studies of inter-sister recombination during budding yeast meiosis. We examined events initiated by DSBs in regions that lack corresponding sequences on the homolog, and show that these DSBs are efficiently repaired by inter-sister recombination. This occurs with the same timing as inter-homolog recombination, but with reduced (2- to 3-fold yields of JMs. Loss of the meiotic-chromosome-axis-associated kinase Mek1 accelerates inter-sister DSB repair and markedly increases inter-sister JM frequencies. Furthermore, inter-sister JMs formed in mek1Δ mutants are preferentially lost, while inter-homolog JMs are maintained. These findings indicate that inter-sister recombination occurs frequently during budding yeast meiosis, with the possibility that up to one-third of all recombination events occur between sister chromatids. We suggest that a Mek1-dependent reduction in

Sisters Hope - Protected by the Fiction

DEFF Research Database (Denmark)

Lawaetz, Anna; Hallberg, Gry Worre

2011-01-01

In this article we will introduce the fictional and art-pedagogical universe of Sisters Hope and describe how it in different ways transcends into contexts beyond the art world and thus functions as a tool to democratize the aesthetic dimension and mode of being within high schools, academia...

Changes in Siblings Over Time After the Death of a Brother or Sister From Cancer.

Science.gov (United States)

Akard, Terrah Foster; Skeens, Micah A; Fortney, Christine A; Dietrich, Mary S; Gilmer, Mary Jo; Vannatta, Kathryn; Barrera, Maru; Davies, Betty; Wray, Sarah; Gerhardt, Cynthia A

2018-02-27

Limited research has examined the impact of a child's death from cancer on siblings. Even less is known about how these siblings change over time. This study compared changes in siblings 1 (T1) and 2 (T2) years after the death of a brother or sister from cancer based on bereaved parent and sibling interviews. Participants across 3 institutions represented 27 families and included bereaved mothers (n = 21), fathers (n = 15), and siblings (n = 26) ranging from 8 to 17 years old. Participants completed semistructured interviews. Content analysis identified emerging themes and included frequency counts of participant responses. McNemar tests examined differences in the frequency of responses between T1 and T2 data. Participants reported similar types of changes in bereaved siblings at both time points, including changes in sibling relationships, life perspectives, their personal lives, and school performance. A new theme of "openness" emerged at T2. Frequencies of responses differed according to mother, father, or sibling informant. Overall, participants less frequently reported changes at T2 versus T1. Compared with findings in the first year, participants reported greater sibling maturity at follow-up. Overall changes in bereaved siblings continued over 2 years with less frequency over time, with the exception of increases in maturity and openness. Providers can educate parents regarding the impact of death of a brother or sister over time. Nurses can foster open communication in surviving grieving siblings and parents as potential protective factors in families going through their grief.

Colchicine promotes a change in chromosome structure without loss of sister chromatid cohesion in prometaphase I-arrested bivalents.

Science.gov (United States)

Rodríguez, E M; Parra, M T; Rufas, J S; Suja, J A

2001-12-01

In somatic cells colchicine promotes the arrest of cell division at prometaphase, and chromosomes show a sequential loss of sister chromatid arm and centromere cohesion. In this study we used colchicine to analyse possible changes in chromosome structure and sister chromatid cohesion in prometaphase I-arrested bivalents of the katydid Pycnogaster cucullata. After silver staining we observed that in colchicine-arrested prometaphase I bivalents, and in contrast to what was found in control bivalents, sister kinetochores appeared individualised and sister chromatid axes were completely separated all along their length. However, this change in chromosome structure occurred without loss of sister chromatid arm cohesion. We also employed the MPM-2 monoclonal antibody against mitotic phosphoproteins on control and colchicine-treated spermatocytes. In control metaphase I bivalents this antibody labelled the tightly associated sister kinetochores and the interchromatid domain. By contrast, in colchicine-treated prometaphase I bivalents individualised sister kinetochores appeared labelled, but the interchromatid domain did not show labelling. These results support the notion that MPM-2 phosphoproteins, probably DNA topoisomerase IIalpha, located in the interchromatid domain act as "chromosomal staples" associating sister chromatid axes in metaphase I bivalents. The disappearance of these chromosomal staples would induce a change in chromosome structure, as reflected by the separation of sister kinetochores and sister axes, but without a concomitant loss of sister chromatid cohesion.

Support for Teens When a Family Member has Cancer

Science.gov (United States)

When a parent, brother, or sister has been diagnosed with cancer, family members need extra support. Information to help teens learn how to cope, talk with family members, manage stress, and get support from counselors when a loved one has been diagnosed with, or is being treated for, cancer.

Increased UV-induced sister-chromatid exchange in cultured fibroblasts of first-degree relatives of melanoma patients

International Nuclear Information System (INIS)

Knees-Matzen, S.; Roser, M.; Reimers, U.; Ehlert, U.; Weichenthal, M.; Breitbart, E.W.; Ruediger, H.W.

1991-01-01

Cultured fibroblasts of 17 first-degree relatives of familial melanoma patients and six first-degree relatives of cutaneous melanoma (CMM) patients with multiple CMM primaries were tested for in vitro sensitivity to UV light. Fibroblasts of nine familial CMM patients with a known UV-sensitivity and 19 healthy probands served as a control. Sister chromatid exchange (SCE) was used as a parameter to detect UV-induced genotoxic damage. The authors found significantly (p less than 0.001) increased UV-induced SCE levels in familial melanoma patients, as well as in first-degree relatives of familial melanoma patients (p less than 0.001) after UV-A,B irradiation (375 J/m2), compared to the healthy probands without a family history of CMM. A significant (p less than 0.001) increase of UV-induced SCE was also observed in the relatives of CMM patients with multiple CMM primaries. In addition, the spontaneous SCE were significantly increased (p less than 0.05) in familial CMM patients. This study shows that increased UV sensitivity is a familial phenomenon. It is consistent with the concept of a genetic predisposition to CMM, which is based on increased UV sensitivity and may help to define groups with an elevated risk of developing cutaneous malignant melanoma

Family-focused prevention with Latinos: What about sisters and brothers?

Science.gov (United States)

Updegraff, Kimberly A; Umaña-Taylor, Adriana J; Rodríguez De Jesús, Sue A; McHale, Susan M; Feinberg, Mark F; Kuo, Sally I-Chun

2016-08-01

Using a randomized, intent-to-treat design, this pilot study examined the feasibility and short-term effects of Siblings Are Special ( SIBS ) with a sample of 54 low-income Latino families (91% Mexican-origin). Participants were older (M = 10.8 years; SD = .46) and younger siblings (M = 8.4 years; SD = 1.13), and their parents (94% biological mothers), who were randomly assigned within school to the intervention (n = 28) or no-attention control (n = 26) condition. The intervention condition included 12 weekly afterschool sessions (90 min each) for sibling pairs and 3 family nights for parents and siblings (2 hr each). SIBS was designed to enhance sibling relationships via 2 primary intervention targets: (a) children’s capacities that underlie positive sibling dynamics, including relationship skills, cognitions, and shared activities; and (b) parenting of siblings, specifically, enhancing positive guidance and involvement and discouraging authoritarian control. Pre- and posttest data were gathered from siblings and parents. Recruitment and implementation data revealed high rates of attendance and completion, and high ratings of parent satisfaction with the program. Further, analyses suggested the program had positive effects of small to modest magnitude on posttest measures of sibling and parent–child relationship quality, parenting of siblings, older siblings’ emotional efficacy, and parents’ depressive symptoms and parenting stress, controlling for pretest levels of all outcomes and family background characteristics. Discussion addresses the feasibility of sibling-focused programs with low-income Latino families and makes recommendations for future research. PsycINFO Database Record (c) 2016 APA, all rights reserved

Effect of chloramphenicol on sister chromatid exchange in bovine fibroblasts.

Science.gov (United States)

Arruga, M V; Catalan, J; Moreno, C

1992-03-01

The genotoxic potential of different chloramphenicol concentrations (5, 20, 40 and 60 micrograms ml-1) was investigated in bovine fibroblast primary lines by sister chromatid exchange assay. Chloramphenicol acted for long enough to ensure similar effects to persistent storage in the kidney. In this experiment 10 micrograms ml-1 of 5-bromodeoxyuridine was added for 60 hours for all doses of chloramphenicol and to the control. When the tissue culture cells were exposed to increasing doses, increased numbers of sister chromatid exchanges developed. Differences were significantly different to the control.

Alport syndrome in a Kazakh family: a case study

Indian Academy of Sciences (India)

exons of the COL4A5 gene in a total of 18 family members. ... During the study of family history we found that the patient's sister also have ... on 3730XL Genetic Analyzer, Applied Biosystems, Foster. City, USA. ... cedures were followed in accordance with the ethical standards of the responsible committee on human experi-.

Food Yields and Nutrient Analyses of the Three Sisters: A Haudenosaunee Cropping System

Directory of Open Access Journals (Sweden)

Jane Mt.Pleasant

2016-11-01

Full Text Available Scholars have studied The Three Sisters, a traditional cropping system of the Haudenosaunee (Iroquois, from multiple perspectives. However, there is no research examining food yields, defined as the quantities of energy and protein produced per unit land area, from the cropping system within Iroquoia. This article compares food yields and other nutrient contributions from the Three Sisters, comprised of interplanted maize, bean and pumpkin, with monocultures of these same crops. The Three Sisters yields more energy (12.25 x 106 kcal/ha and more protein (349 kg/ha than any of the crop monocultures or mixtures of monocultures planted to the same area. The Three Sisters supplies 13.42 people/ha/yr. with energy and 15.86 people/ha/yr. with protein. Nutrient contents of the crops are further enhanced by nixtamalization, a traditional processing technique where maize is cooked in a high alkaline solution. This process increases calcium, protein quality, and niacin in maize.

[Analysis of genomic copy number variations in two sisters with primary amenorrhea and hyperandrogenism].

Science.gov (United States)

Zhang, Yanliang; Xu, Qiuyue; Cai, Xuemei; Li, Yixun; Song, Guibo; Wang, Juan; Zhang, Rongchen; Dai, Yong; Duan, Yong

2015-12-01

To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism. G-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR). No abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH. Two CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.

Detecting and correcting for family size differences in the study of sexual orientation and fraternal birth order.

Science.gov (United States)

Blanchard, Ray

2014-07-01

The term "fraternal birth order effect" denotes a statistical relation most commonly expressed in one of two ways: Older brothers increase the odds of homosexuality in later born males or, alternatively, homosexual men tend to have more older brothers than do heterosexual men. The demonstrability of this effect depends partly on the adequate matching of the homosexual and heterosexual study groups with respect to mean family size. If the homosexual group has too many siblings, relative to the heterosexual group, the homosexual group will tend to show the expected excess of older brothers but may also show an excess of other sibling-types (most likely older sisters); if the homosexual group has too few siblings, it will tend not to show a difference in number of older brothers but instead may show a deficiency of other sibling-types (most likely younger brothers and younger sisters). In the first part of this article, these consequences are illustrated with deliberately mismatched groups selected from archived data sets. In the second part, two slightly different methods for transforming raw sibling data are presented. These are intended to produce family-size-corrected variables for each of the four original sibling parameters (older brothers, older sisters, younger brothers, and younger sisters). Both versions are shown to render the fraternal birth order effect observable in the deliberately mismatched groups. In the third part of the article, fraternal birth order studies published in the last 5 years were surveyed for failures to find a statistically significant excess of older brothers for the homosexual group. Two such studies were found in the nine examined. In both cases, the collective findings for older sisters, younger brothers, and younger sisters suggested that the mean family size of the homosexual groups was smaller than that of the heterosexual comparison groups. Furthermore, the individual findings for the four classes of siblings resembled those

Three Sisters Dam: Investigations and monitoring

International Nuclear Information System (INIS)

Slopek, R.J.; Courage, L.J.R.; Keys, R.A.

1990-01-01

The geotechnical investigations, monitoring and interpretation of data associated with the evaluation of the Three Sisters Dam, which has been suffering from excessive seepage and is in need of enhancement, are outlined. The Three Sisters Dam is located in the continental ranges of the Rocky Mountains in Alberta, impounding the Spray Reservoir, and is founded on 60 m of interbedded sand, gravel, silt and clay layers. The computer code PC-SEEP was used to evaluate seepage. Details are provided of drilling, ground-penetrating radar surveys, seismic surveys, penstock inspection, sinkhole activity, piezometer monitoring, silt wells, settlement monuments, and tailrace monitoring. The intensive investigations of the foundations showed that they consist of a complex formation of interfingered stratified layers and leases of talus and glaciofluvial deposits. Due to the depth and nature of these materials drill hole penetration was limited to the use of the Becker hammer. This equipment successfully delineated the major soil horizons of the foundation. The continued information attained from inspection, drilling, testing, radar surveys, seismic work, monitoring of piezometers, leakage, silt wells and settlement monuments indicated that there are no large voids within the foundation of the dam. 2 refs., 12 figs

Jiang Shuqin: a devoted family planning worker.

Science.gov (United States)

Zhu, H

1997-04-01

This article describes the family planning activities of a barefoot doctor, Jiang Shuqin, who has delivered family planning and other medical services to poor local farmers in China over the past 20 years. The once backward township of Kulongshan in Fengning Manchu Nationality Autonomous County, Chengde City, Hebei Province in North China, where she works, has advanced. Her efforts were recognized at the 1997 National Conference on Family Planning Work. Her first success was in treating a poor woman's sick child, which resulted in such gratitude that her initial reluctance to accept contraception was overcome and she agreed to terminate her pregnancy. Another case involved an elder sister who became pregnant for her infertile sister; when the latter was diagnosed and treated for gynecological disease and subsequently conceived herself, the older sister was convinced to abort her pregnancy. One woman was counseled to delay a pregnancy until treatment for tuberculosis was completed and was happy to avoid birth defects and enjoyed having a healthy baby 3 years later. Ms. Shuqin was known to quickly respond to a home delivery and difficult labor and even saved a baby whose supply of oxygen was limited during a difficult labor. She even performed an operation to stop massive hemorrhaging from a retained placenta while in her 8th month of pregnancy and being barely able to stand on her swollen and painful legs; she completed the operation on her knees. She wrote a paper to county officials on rice production on reclaimed paddy fields that benefitted hundreds of farmers. Her practice expanded to include treatment of animals. Her family complains about her absences, but everyone in the township appreciates her services. The township is proud to be one with no unplanned births.

IMPLEMENTASI SISTER PROVINCE PROVINSI JAWA TENGAH DENGAN NEGARA BAGIAN QUEENSLAND AUSTRALIA DI BIDANG PERTANIAN

Directory of Open Access Journals (Sweden)

Reni Windiani

2016-02-01

Full Text Available Globalization on national context has insisted the central government to work together and share duties and rights with the local government in order to achieve the national interest.  In Indonesia, UU 32/2004 about local government provide the chance for them to become more active in foreign policy, such as doing the cooperation in sister province/sister city program. The Central Java Province had done many sister province/sister city program with some partners aboard, such as Fujian province (China, Chungchoeng buk-do province (South Korea and the Queensland province (Australia.  The cooperation cover many sectors such as agriculture, city and village development, transportation and tourism, industry, trade and infestation, education, science and technology, and other sectors that will be confer in advance. From all of the cooperation that have been done between Central Java Province and Queensland, the author, is interested to have research on farming, because central government has had many cows imported from Australia.  This research is become important because central java province is one of the major of national fresh meat distributors. This research is using a qualitative method, with descriptive type of research.  This research has three research questions: How effective is the Sister Province program in Central Java with the Queensland in farm sector? What is the obstacle that holds the Sister Province program in Central Java with the Queensland in farm sector? How is the prospect of Sister Province program in Central Java with the Queensland in farm sector? This result of this research is to prove that the implementation of Sister Province program in Central Java with the Queensland in farm sectors is not effective.  Some of the implementation variables of this program have not been fulfilled. Communication, financial resources and bureaucracy structure are some of the variables that have weakness on this program.  Act of

Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fision yeast to humans.

NARCIS (Netherlands)

S. Parisi; M.J. McKay (Michael); M. Molnar; M.A. Thompson (Anne); P.J. van der Spek (Peter); E. van Drunen-Schoenmaker; R. Kanaar (Roland); E. Lehmann; J.H.J. Hoeijmakers (Jan); J. Kohli

1999-01-01

textabstractOur work and that of others defined mitosis-specific (Rad21 subfamily) and meiosis-specific (Rec8 subfamily) proteins involved in sister chromatid cohesion in several eukaryotes, including humans. Mutation of the fission yeast Schizosaccharomyces pombe rec8 gene was previously shown to

IVF for premature ovarian failure: first reported births using oocytes donated from a twin sister.

LENUS (Irish Health Repository)

Sills, Eric Scott

2010-01-01

BACKGROUND: Premature ovarian failure (POF) remains a clinically challenging entity because in vitro fertilisation (IVF) with donor oocytes is currently the only treatment known to be effective. METHODS: A 33 year-old nulligravid patient with a normal karyotype was diagnosed with POF; she had a history of failed fertility treatments and had an elevated serum FSH (42 mIU\\/ml). Oocytes donated by her dizygotic twin sister were used for IVF. The donor had already completed a successful pregnancy herself and subsequently produced a total of 10 oocytes after a combined FSH\\/LH superovulation regime. These eggs were fertilised with sperm from the recipient\\'s husband via intracytoplasmic injection and two fresh embryos were transferred to the recipient on day three. RESULTS: A healthy twin pregnancy resulted from IVF; two boys were delivered by caesarean section at 39 weeks\\' gestation. Additionally, four embryos were cryopreserved for the recipient\\'s future use. The sister-donor achieved another natural pregnancy six months after oocyte retrieval, resulting in a healthy singleton delivery. CONCLUSION: POF is believed to affect approximately 1% of reproductive age females, and POF patients with a sister who can be an oocyte donor for IVF are rare. Most such IVF patients will conceive from treatment using oocytes from an anonymous oocyte donor. This is the first report of births following sister-donor oocyte IVF in Ireland. Indeed, while sister-donor IVF has been successfully undertaken by IVF units elsewhere, this is the only known case where oocyte donation involved twin sisters. As with all types of donor gamete therapy, pre-treatment counselling is important in the circumstance of sister oocyte donation.

Familial deletion 18p syndrome: case report

Directory of Open Access Journals (Sweden)

Lemyre Emmanuelle

2006-07-01

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

Family matters : The experiences and opinions of family members of persons with (severe) or profound intellectual disabilities

NARCIS (Netherlands)

Luijkx, Jorien

2016-01-01

“I love my sister, but sometimes I don’t”. This is one of the statements made in the study focused on the experiences of family members of people with (profound) intellectual (and multiple) disabilities (both of individuals living in a residential facility as persons living at home). In recent

Longitudinal associations among parental acceptance, familism values, and sibling intimacy in Mexican-origin families.

Science.gov (United States)

Killoren, Sarah E; Wheeler, Lorey A; Updegraff, Kimberly A; Rodríguez de Jésus, Sue A; McHale, Susan M

2015-06-01

Prospective associations among parent-adolescent acceptance and familism values in early and middle adolescence and sibling intimacy in late adolescence and young adulthood were assessed in 246 Mexican-origin families. Older sibling gender and sibling gender constellation were investigated as moderators of these associations. Sibling intimacy was stable over time and younger siblings with older sisters reported higher levels of sibling intimacy than those with older brothers. As predicted, stronger familism values were associated with greater sibling intimacy, but this link was evident only for older sisters and for girl-girl dyads. The links from mother- and father-acceptance to sibling intimacy also depended on the gender constellation of the sibling dyad: Higher levels of maternal warmth were associated with greater sibling intimacy for older sisters and girl-girl sibling pairs but higher levels of paternal warmth were linked to greater sibling intimacy only for older siblings in mixed-gender sibling dyads. Findings are consistent with prior research on the role of gender in family relationships but extend this work to encompass the effects of both parents' and siblings' gender, as well as the role of sociocultural values in parents' socialization influences. © 2015 Family Process Institute.

Molecular data and phylogeny of family

International Nuclear Information System (INIS)

Shinwari, Z.K.; Shinwari, S.

2010-01-01

Family Smilacaceae's higher order taxonomy remained disputed for many years. It was treated as an order 'Smilacales' and was also placed under Liliales by several taxonomists. Even some considered as part of family Liliacaeae. In present paper, we investigated the family's higher order phylogeny and also compared its rbcL gene sequence data with related taxa to elucidate its phylogeny. The data suggests that its family stature is beyond dispute because of its advanced karyotype, woody climbing habit and DNA sequence data. The data suggest that Smilacaceae may be a sister group of order Liliales and it forms a clear clade with the order. (author)

Catholic nursing sisters and brothers and racial justice in mid-20th-century America.

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Wall, Barbra Mann

2009-01-01

This historical article considers nursing's work for social justice in the 1960s civil rights movement through the lens of religious sisters and brothers who advocated for racial equality. The article examines Catholic nurses' work with African Americans in the mid-20th century that took place amid the prevailing social conditions of poverty and racial disempowerment, conditions that were linked to serious health consequences. Historical methodology is used within the framework of "bearing witness," a term often used in relation to the civil rights movement and one the sisters themselves employed. Two situations involving nurses in the mid-20th century are examined: the civil rights movement in Selma, Alabama, and the actions for racial justice in Chicago, Illinois. The thoughts and actions of Catholic sister and brother nurses in the mid-20th century are chronicled, including those few sister nurses who stepped outside their ordinary roles in an attempt to change an unjust system entirely.

2 case reports of the polyostotic fibrous dysplasia on the cranial and maxillofacial bones of the sisters

International Nuclear Information System (INIS)

Kim, Han Pyung; Park, Chang Seo

1979-01-01

The authors observed 2 cases of fibrous dysplasia on the cranial and maxillofacial bones in 31.28 aged sisters, who had come to the Infirmary of Dental College, Yonsei University. The serial roentgenograms and clinical findings had been taken and the results established as polyostotic fibrous dysplasia according to the findings in their images. To author have obtained the results as follows: 1. Bony expansion of the mandible occurred at 18 years of age and the facial asymmetry appeared due to development of the lesions. 2. The traumatic history were not noted but weak tendency of familial history noted. 3. Endocrine disturbances, hyperpigmentation on the skin and premature puberty in the infancy were not noted. 4. We have concluded these diseases as polyostotic fibrous dysplasia on the cranial and maxillofacial bones with weak familial tendency according to the findings.

Spinal involvement in Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome in two Yemeni sisters

NARCIS (Netherlands)

Emad, Yasser; Ragab, Yasser; Ibrahim, Osama; Khalifa, Maher; Dawood, Ahmed; Rasker, Johannes J.

2017-01-01

Aim of the work The objective of this clinical report is to describe the detailed magnetic resonance imaging (MRI) findings of the spine, knee and hip joints in two young sisters with Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome. Cases report In two young sisters, both had normal

Brothers and Sisters of Adults with Mental Retardation: Gendered Nature of the Sibling Relationship.

Science.gov (United States)

Orsmond, Gael I.; Seltzer, Marsha Mailick

2000-01-01

Differences and similarities between 245 brothers and sisters of adults with mental retardation in the sibling relationship were examined. Sisters scored higher in the caregiving, companionship, and positive affect aspects of the sibling relationship. Sibling involvement increased over time, but was dependent upon changes in maternal health.…

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

NARCIS (Netherlands)

van Paassen, Barbara W.; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y.; de Visser, Marianne

2017-01-01

We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of

Identical Twin Primigravid Sisters -Spontaneous Labour and ...

African Journals Online (AJOL)

We report 2 cases of identical twin sisters, the older sibling getting married 14 months earlier but both got pregnant for their first child at about the same time and were managed by the same Obstetrician and fell into spontaneous labour within a few hours of each other. Both were delivered by emergency caesarean section ...

Freud on Brothers and Sisters: A Neglected Topic

Science.gov (United States)

Sherwin-White, Susan

2007-01-01

This paper explores Freud's developing thought on brothers and sisters, and their importance in his psychoanalytical writings and clinical work. Freud's work on sibling psychology has been seriously undervalued. This paper aims to give due recognition to Freud's work in this area. (Contains 1 note.)

Genome-wide mapping of sister chromatid exchange events in single yeast cells using Strand-seq

NARCIS (Netherlands)

Claussin, Clemence; Porubsky, David; Spierings, Diana C. J.; Halsema, Nancy; Rentas, Stefan; Guryev, Victor; Lansdorp, Peter M.; Chang, Michael

2017-01-01

Homologous recombination involving sister chromatids is the most accurate, and thus most frequently used, form of recombination-mediated DNA repair. Despite its importance, sister chromatid recombination is not easily studied because it does not result in a change in DNA sequence, making

Effect of borax on immune cell proliferation and sister chromatid exchange in human chromosomes.

Science.gov (United States)

Pongsavee, Malinee

2009-10-30

Borax is used as a food additive. It becomes toxic when accumulated in the body. It causes vomiting, fatigue and renal failure. The heparinized blood samples from 40 healthy men were studied for the impact of borax toxicity on immune cell proliferation (lymphocyte proliferation) and sister chromatid exchange in human chromosomes. The MTT assay and Sister Chromatid Exchange (SCE) technic were used in this experiment with the borax concentrations of 0.1, 0.15, 0.2, 0.3 and 0.6 mg/ml. It showed that the immune cell proliferation (lymphocyte proliferation) was decreased when the concentrations of borax increased. The borax concentration of 0.6 mg/ml had the most effectiveness to the lymphocyte proliferation and had the highest cytotoxicity index (CI). The borax concentrations of 0.15, 0.2, 0.3 and 0.6 mg/ml significantly induced sister chromatid exchange in human chromosomes (P Borax had effects on immune cell proliferation (lymphocyte proliferation) and induced sister chromatid exchange in human chromosomes. Toxicity of borax may lead to cellular toxicity and genetic defect in human.

Broad phylogenomic sampling and the sister lineage of land plants.

Directory of Open Access Journals (Sweden)

Ruth E Timme

Full Text Available The tremendous diversity of land plants all descended from a single charophyte green alga that colonized the land somewhere between 430 and 470 million years ago. Six orders of charophyte green algae, in addition to embryophytes, comprise the Streptophyta s.l. Previous studies have focused on reconstructing the phylogeny of organisms tied to this key colonization event, but wildly conflicting results have sparked a contentious debate over which lineage gave rise to land plants. The dominant view has been that 'stoneworts,' or Charales, are the sister lineage, but an alternative hypothesis supports the Zygnematales (often referred to as "pond scum" as the sister lineage. In this paper, we provide a well-supported, 160-nuclear-gene phylogenomic analysis supporting the Zygnematales as the closest living relative to land plants. Our study makes two key contributions to the field: 1 the use of an unbiased method to collect a large set of orthologs from deeply diverging species and 2 the use of these data in determining the sister lineage to land plants. We anticipate this updated phylogeny not only will hugely impact lesson plans in introductory biology courses, but also will provide a solid phylogenetic tree for future green-lineage research, whether it be related to plants or green algae.

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

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Mariza G. Santos

2014-01-01

Full Text Available Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insufficiency (POI is seldom obtained. The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. We performed mutational analysis of NANOS3 in a cohort of 85 Brazilian women with familial or isolated POI, presenting with primary or secondary amenorrhea, and in ethnically-matched control women. A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. The substituted amino acid is located within the second C2HC motif in the conserved zinc finger domain of NANOS3 and in silico molecular modelling suggests destabilization of protein-RNA interaction. In vitro analyses of apoptosis through flow cytometry and confocal microscopy show that NANOS3 capacity to prevent apoptosis was impaired by this mutation. The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology.

Psychopathology, childhood trauma, and personality traits in patients with borderline personality disorder and their sisters.

Science.gov (United States)

Laporte, Lise; Paris, Joel; Guttman, Herta; Russell, Jennifer

2011-08-01

The aim of this study was to document and compare adverse childhood experiences, and personality profiles in women with borderline personality disorder (BPD) and their sisters, and to determine how these factors impact current psychopathology. Fifty-six patients with BPD and their sisters were compared on measures assessing psychopathology, personality traits, and childhood adversities. Most sisters showed little evidence of psychopathology. Both groups reported dysfunctional parent-child relationships and a high prevalence of childhood trauma. Subjects with BPD reported experiencing more emotional abuse and intrafamilial sexual abuse, but more similarities than differences between probands and sisters were found. In multilevel analyses, personality traits of affective instability and impulsivity predicted DIB-R scores and SCL-90-R scores, above and beyond trauma. There were few relationships between childhood adversities and other measures of psychopathology. Sensitivity to adverse experiences, as reflected in the development of psychopathology, appears to be influenced by personality trait profiles.

El naturalismo americano: Theodore Dreiser y Sister Carrie

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Dolores G. ALONSO MULAS

2009-08-01

Full Text Available Para situar a un escritor, como Theodore Dreiser, y especialmente su novela Sister Carrie dentro de un movimiento literario y de una etapa determinada de la historia americana, es necesario dar un breve repaso al naturalismo, llegado a América a través de Stephen Crane

Familial predisposition to vasovagal syncope.

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Negrusz-Kawecka, Marta; Bańkowski, Tomasz; Tabin, Mateusz; Paprocka, Magdalena; Mercik, Agnieszka; Misztal, Jowita; Nowak, Piotr; Zysko, Dorota; Gajek, Jacek

2012-06-01

A handful of studies suggest a familial predisposition to vasovagal syncope (WS) but the scope of information available to date is poor. The aim of our study was to evaluate the prevalence of vasovagal syncope and its familial occurrence in the young. The studied group consisted of 281 women and 111 men, aged 18-32 years. Forty-seven percent of the population had one brother or sister, and the mean number of individuals per family was 4.4 +/- 1.0. The questionnaire consisted of 30 questions regarding syncopal history. Syncope was reported in 32.1% of the patients studied (36.7% in women vs. 20.7% in men; P < 0.05), 29.1% of mothers, 16.8% of fathers, 30.9% of sisters and 14.2% of brothers. Logistic regression analysis revealed that positive history regarding the syncope in the whole group of students was related to the female gender (OR 2.17; CI: 1.28-3.7), the history of a syncope in mother (OR 1.74; CI: 1.09-2.78) and the history of a syncope in father (OR 2.22; CI: 1.28-3.86; P < 0.001). A positive history of syncope in male relatives increases the risk of syncope in men and women, whereas a positive history of syncope in female relatives increases the risk of syncope in women only. Female gender independently of the family history increases the risk of syncope. The genetics of the vasovagal syncope could be polygenic but the mechanisms of a transmission remain unclear to date.

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

Science.gov (United States)

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

2015-04-01

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

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Science.gov (United States)

Ahuja, Yachna; Kohl, Susanne; Traboulsi, Elias I

2008-07-10

ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease. Clinical examinations were performed in seven patients from three nuclear families. Molecular genetic testing for common CNGA3 and CNGB3 mutations was undertaken using standard protocols. All patients were extremely light sensitive and had reduced visual acuity and no color perception. Fundus examinations did not show any visible abnormalities. After further pedigree analysis, two of the families were found to be linked through the paternal line. Two mutations in CNGA3 were identified: Arg283Trp and Gly397Val. Family A, the larger pedigree, had one branch in which two sisters and one brother were homozygous for the Gly397Val mutation and another branch in which a brother and sister were compound heterozygous for both aforenamed mutations. Family B, however, only had two brothers who were homozygous for the Arg283Trp mutation. Achromatopsia in these two United Arab Emirates families results from two different mutations in CNGA3. Two branches of the same pedigree had individuals with both homozygous and compound heterozygous disease, demonstrating a complex molecular pathology in this large family.

Effect of borax on immune cell proliferation and sister chromatid exchange in human chromosomes

Directory of Open Access Journals (Sweden)

Pongsavee Malinee

2009-10-01

Full Text Available Abstract Background Borax is used as a food additive. It becomes toxic when accumulated in the body. It causes vomiting, fatigue and renal failure. Methods The heparinized blood samples from 40 healthy men were studied for the impact of borax toxicity on immune cell proliferation (lymphocyte proliferation and sister chromatid exchange in human chromosomes. The MTT assay and Sister Chromatid Exchange (SCE technic were used in this experiment with the borax concentrations of 0.1, 0.15, 0.2, 0.3 and 0.6 mg/ml. Results It showed that the immune cell proliferation (lymphocyte proliferation was decreased when the concentrations of borax increased. The borax concentration of 0.6 mg/ml had the most effectiveness to the lymphocyte proliferation and had the highest cytotoxicity index (CI. The borax concentrations of 0.15, 0.2, 0.3 and 0.6 mg/ml significantly induced sister chromatid exchange in human chromosomes (P Conclusion Borax had effects on immune cell proliferation (lymphocyte proliferation and induced sister chromatid exchange in human chromosomes. Toxicity of borax may lead to cellular toxicity and genetic defect in human.

Familial macrocephaly

International Nuclear Information System (INIS)

Tatsuno, Masaru; Hayashi, Michiko; Iwamoto, Hiroko

1984-01-01

We reported 63 macrocephalic children with special emphasis on 16 cases with familial macrocephaly. Of the 16 children with familial macrocephaly, 13 were boys. Foureen parents (13 fathers and 1 mother) had head sizes above 98th percentile. Three of 5 brothers and 5 of 8 sisters also had large heads. The head circumference at birth was known for 14 of the children and it was above the 98th percentile in 7 patients. Subsequent evaluations have shown the head size of these children to be following a normal growth curve. Some of the children were hypotonic as infants, but their development was generally normal. CT scans usually clearly distinguished these children from those with hydorocephalus. The familial macrocephalic children had ventricular measurements which were within the normal range, but absolute measurements of the ventricular size may be misleading, because the CT appearance was of mildly dilated ventricles in half of them. (author)

Childhood obsessive-compulsive traits in anorexia nervosa patients, their unaffected sisters and healthy controls: a retrospective study.

Science.gov (United States)

Degortes, Daniela; Zanetti, Tatiana; Tenconi, Elena; Santonastaso, Paolo; Favaro, Angela

2014-07-01

Although there is evidence that childhood perfectionistic traits predate the onset of eating disorders, few studies to date have examined the prevalence and clinical correlates of these traits in patients with anorexia nervosa (AN) and their unaffected sisters. The aim of this work was to study the prevalence of childhood obsessive-compulsive traits in patients with lifetime AN, their unaffected sisters and healthy women. A total of 116 AN patients, 32 healthy sisters and 119 controls were assessed by the EATATE Interview to assess traits such as perfectionism, inflexibility, rule-bound traits, drive for order and symmetry, and excessive doubt and cautiousness. Both self-report and maternal reports were collected. AN patients reported more childhood obsessive-compulsive traits than their healthy sisters and controls. In contrast, no differences between healthy controls and unaffected sisters emerged. In patients with AN, a dose-response relationship was found between the number of childhood obsessive-compulsive traits and psychopathology, including body image distortion, thus indicating that these traits are an important feature to be considered in assessing and treating eating disorders. Copyright © 2014 John Wiley & Sons, Ltd and Eating Disorders Association.

Challenging stereotypes? The older woman in the TV series Brothers & Sisters.

Science.gov (United States)

Oró-Piqueras, Maricel

2014-12-01

The TV series, Brothers & Sisters, broadcast from 2006 to 2011 by ABC (USA) and a year later by Channel 4 (UK) with quite high audience rates, starts when the patriarchal figure, William Walker, dies of a heart attack and two female figures around their sixties come center stage: his wife, Nora Walker, and his long-term lover, Holly Harper. Once the patriarchal figure disappears, the female characters regain visibility by entering the labor market and starting relationships with other men. In that sense, both protagonists experience aging as a time in which they are increasingly freed from social and family constraints. However, their roles as nurturers keep on bringing them back to the domestic space in which they are safe from being involved in uncomfortable and unsuitable situations. Drawing on previous studies on the representation of the older woman in fictional media, this article intends to discern to what extent stereotypes related to the older woman are challenged through the two main protagonists of a contemporary TV series. Copyright © 2014 Elsevier Inc. All rights reserved.

Sister chromatid exchange in peripheral blood lymphocytes as a ...

African Journals Online (AJOL)

Introduction: Sister chromatid exchanges (SCEs) can be induced by various genotoxic treatments, suggesting that SCEs refl ect a DNA repair process and it may be a good index for assessment of genomic instability. However, the occurrence of genetic instability and in particular, of spontaneous SCEs has been strongly ...

Mechanisms of sister chromatid recombination

International Nuclear Information System (INIS)

Nakai, Sayaka; Machida, Isamu; Tsuji, Satsuki

1985-01-01

Studies using T948 as a model system have been carried out aimed at elucidating the mechanism of sister chromatid recombination (SCR). Characterization of U.V. light- and x-ray-induced SCR, the relationiship between SCR induction and DNA repair using rad mutations, and the relationship between SCR induction and the time of cell division using cdc mutations are presented. It has been supposed that SCR is induced at the phase of S-G 2 following DNA replication, that postreplication break of DNA strands is strongly involved in the induction of SCR, and that induction type of SCR, i.e., conversion type or recombination type, is dependent upon the type of molecular damage of DNA. (Namekawa, K.)

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

Science.gov (United States)

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

2015-01-01

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

Sister chromosome pairing maintains heterozygosity in parthenogenetic lizards.

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Lutes, Aracely A; Neaves, William B; Baumann, Diana P; Wiegraebe, Winfried; Baumann, Peter

2010-03-11

Although bisexual reproduction has proven to be highly successful, parthenogenetic all-female populations occur frequently in certain taxa, including the whiptail lizards of the genus Aspidoscelis. Allozyme analysis revealed a high degree of fixed heterozygosity in these parthenogenetic species, supporting the view that they originated from hybridization events between related sexual species. It has remained unclear how the meiotic program is altered to produce diploid eggs while maintaining heterozygosity. Here we show that meiosis commences with twice the number of chromosomes in parthenogenetic versus sexual species, a mechanism that provides the basis for generating gametes with unreduced chromosome content without fundamental deviation from the classic meiotic program. Our observation of synaptonemal complexes and chiasmata demonstrate that a typical meiotic program occurs and that heterozygosity is not maintained by bypassing recombination. Instead, fluorescent in situ hybridization probes that distinguish between homologues reveal that bivalents form between sister chromosomes, the genetically identical products of the first of two premeiotic replication cycles. Sister chromosome pairing provides a mechanism for the maintenance of heterozygosity, which is critical for offsetting the reduced fitness associated with the lack of genetic diversity in parthenogenetic species.

Umbilical metastasis (Sister Mary Joseph's nodule diagnosed by fine-needle aspiration

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Tatomirović Željka

2004-01-01

Full Text Available Sister Mary Joseph’s nodule is the eponym for metastatic involvement of the umbilicus. This less common entity is the sign of disseminated malignant disease, mainly of digestive and gynecologic origin, and is associated with a poor prognosis. A case of Sister Mary Joseph’s nodule in a 76-year-old woman in whom the umbilical metastasis was the first sign of malignant disease in presented. The diagnosis of metastatic adenocarcinoma was established by fine needle aspiration cytology of the umbilical nodule. Radiological and ultrasonographic investigation disclosed carcinoma of the gallbladder with pancreas, stomach, and colon invasion as well as peritoneal dissemination. The diagnosis was confirmed by exploratory laparatomy and histological examination of the excised umbilical nodule.

The Lehman Sisters Hypothesis: an exploration of literature and bankers

NARCIS (Netherlands)

I.P. van Staveren (Irene)

2012-01-01

textabstractAbstract This article tests the Lehman Sisters Hypothesis in two complementary, although incomplete ways. It reviews the diverse empirical literature in behavioral, experimental, and neuroeconomics as well as related fields of behavioral research. And it presents the findings from an

The Lehman Sisters Hypothesis: an exploration of literature and bankers

NARCIS (Netherlands)

I.P. van Staveren (Irene)

2012-01-01

textabstractThis article tests the Lehman Sisters Hypothesis in two complementary, although incomplete ways. It reviews the diverse empirical literature in behavioural, experimental, and neuroeconomics as well as related fields of behavioural research. And it presents the findings from an

Extensive range overlap between heliconiine sister species: evidence for sympatric speciation in butterflies?

Science.gov (United States)

Rosser, Neil; Kozak, Krzysztof M; Phillimore, Albert B; Mallet, James

2015-06-30

Sympatric speciation is today generally viewed as plausible, and some well-supported examples exist, but its relative contribution to biodiversity remains to be established. We here quantify geographic overlap of sister species of heliconiine butterflies, and use age-range correlations and spatial simulations of the geography of speciation to infer the frequency of sympatric speciation. We also test whether shifts in mimetic wing colour pattern, host plant use and climate niche play a role in speciation, and whether such shifts are associated with sympatry. Approximately a third of all heliconiine sister species pairs exhibit near complete range overlap, and analyses of the observed patterns of range overlap suggest that sympatric speciation contributes 32%-95% of speciation events. Müllerian mimicry colour patterns and host plant choice are highly labile traits that seem to be associated with speciation, but we find no association between shifts in these traits and range overlap. In contrast, climatic niches of sister species are more conserved. Unlike birds and mammals, sister species of heliconiines are often sympatric and our inferences using the most recent comparative methods suggest that sympatric speciation is common. However, if sister species spread rapidly into sympatry (e.g. due to their similar climatic niches), then assumptions underlying our methods would be violated. Furthermore, although we find some evidence for the role of ecology in speciation, ecological shifts did not show the associations with range overlap expected under sympatric speciation. We delimit species of heliconiines in three different ways, based on "strict and " "relaxed" biological species concepts (BSC), as well as on a surrogate for the widely-used "diagnostic" version of the phylogenetic species concept (PSC). We show that one reason why more sympatric speciation is inferred in heliconiines than in birds may be due to a different culture of species delimitation in the two

Ukrainian and European Baroque in the Context of “Sister Arts” Idea

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Olga Shikirinskaya

2015-08-01

Full Text Available The article deals with the “Sister Arts” tradition as the interrelationship of various art forms (poetry, fiction, painting, theatre, music etc. relative to the Baroque period. “Sister Arts” criticism, based on E.G. Lessing essay “Laocoön…” uses the inter-art analogies to appreciate the importance of literature in the Arts, as well as to comprehend aspects of the modern approach to the synthesis of the arts. The article presents the aesthetic concept of Baroque art and its realization in architecture, sculpture, decorative and applied arts, music and literature on the background of the European and Ukrainian cultural tradition.

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

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Gardner, Olivia K; Haynes, Karla; Schweitzer, Daniela; Johns, Alexis; Magee, William P; Urata, Mark M; Sanchez-Lara, Pedro A

2017-11-01

We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

Sister chromatoid exchanges in atomic bomb survivors

International Nuclear Information System (INIS)

Nakano, Mimako; Awa, Akio

1980-01-01

Sister chromatoid exchange (SCE) frequencies in the peripheral lymphocyte with and without mitomycin-C (MMC) were studied, in the age of tens and thirties for an atomic-bomb survivor group and in thirties, fifties, and seventies for an unexposed group. The observation of 100 cells showed no statistically significant difference of SCE frequencies with aging or irradiation. The increasing rates of SCE frequencies by MMC showed no difference among the groups. The average increasing ratio by MMC was 3.6. (Nakanishi, T.)

Effect of borax on immune cell proliferation and sister chromatid exchange in human chromosomes

OpenAIRE

Pongsavee Malinee

2009-01-01

Abstract Background Borax is used as a food additive. It becomes toxic when accumulated in the body. It causes vomiting, fatigue and renal failure. Methods The heparinized blood samples from 40 healthy men were studied for the impact of borax toxicity on immune cell proliferation (lymphocyte proliferation) and sister chromatid exchange in human chromosomes. The MTT assay and Sister Chromatid Exchange (SCE) technic were used in this experiment with the borax concentrations of 0.1, 0.15, 0.2, 0...

Meiotic sister chromatid cohesion and recombination in two filamentous fungi

NARCIS (Netherlands)

Heemst, van D.

2000-01-01

Homologous recombination and sister chromatid cohesion play important roles in the maintenance of genome integrity and the fidelity of chromosome segregation in mitosis and meiosis. Within the living cell, the integrity of the DNA is threatened by various factors that cause DNA-lesions, of

The development of SisterTalk: a cable TV-delivered weight control program for black women.

Science.gov (United States)

Gans, Kim M; Kumanyika, Shiriki K; Lovell, H Joan; Risica, Patricia M; Goldman, Roberta; Odoms-Young, Angela; Strolla, Leslie O; Decaille, Donna O; Caron, Colleen; Lasater, Thomas M

2003-12-01

Overweight and obesity have reached epidemic proportions in the United States, with black women disproportionately affected. SisterTalk is a weight control program designed specifically for delivery to black women via cable TV. The theoretical and conceptual frameworks and formative research that guided the development and cultural tailoring of SisterTalk are described. Social Action Theory was applied in the development of SisterTalk along with a detailed behavioral analysis of the way that black women view weight and weight loss within the context of their cultural and social realities. The entire intervention development process was framed using this information, rather than by changing only superficial aspects of program delivery. Community networking and both qualitative and quantitative interview techniques from the fields of social marketing and cultural anthropology were used to involve black women from Boston in the design and implementation of a program that would be practical, appealing, and culturally sensitive. Also discussed are strategies for evaluating the program, and lessons learned that might have broader applicability are highlighted. The development of the SisterTalk program could provide a useful starting point for development of successful weight control programs for black women in other parts of the United States as well as for other ethnic and racial groups.

Unusual association of turner syndrome and hypopituitarism in a Tunisian family.

Science.gov (United States)

Bougacha-Elleuch, N; Elleuch, M; Charfi, N; Mnif, F; Belghith, N; Abdelhedi, F; Kammoun, H; Hachicha, M; Mnif, M; Abid, M

2016-01-01

Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them. Our cohort consists of four Tunisian adult sisters belonging to a consanguineous family. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. Turner syndrome was diagnosed at the ages of 14, 17, 31 and 43 years in cases 1, 2, 3 and 4 respectively. They suffered from short stature, dysmorphic syndrome and/or delayed puberty. Interestingly, 3 among them showed also hypopituitarism, hypogonadotrophic hypogonadism and central hypothyroidism. Somatotropic insufficiency was proven in one case. Pituitary MRI has shown an empty sella turcica with hypoplastic pituitary gland in three cases. Their karyotypes were compatible with 45X in one case, 45X/46XX in the second and 45X/46XX/47XXY with x label in two cases. Hence, the presence of these familial cases of TS must evoke new etiopathogenetic arguments. Coincidence of hypopituitarism in this family, might suggest common genetic background for the two diseases. This particular family would be a precious tool for an extensive molecular analysis. More attention should be given to other family's members mainly in the presence of delayed puberty and sterility in other members. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Impact of race and diagnostic label on older adults' emotions, illness beliefs, and willingness to help a family member with osteoarthritis.

Science.gov (United States)

Mingo, Chivon A; McIlvane, Jessica M; Haley, William E; Luong, My-Linh N

2015-04-01

To examine how race and the diagnostic label of Osteoarthritis (OA) affects older adults' emotions, illness beliefs, and willingness to help a family member. African American and White older adults were randomly assigned to read vignettes describing a sister suffering from chronic pain and disability, either with or without the OA label. Race × diagnostic label ANOVAs were conducted. Compared to Whites, African Americans were more optimistic that OA could improve with health care, and showed greater willingness to help their sister. The OA label had little impact on emotions, beliefs, or willingness to help. African Americans rated the sister as having more control of their problem than Whites without the OA label, but providing the diagnosis eliminated this difference. The diagnostic label of OA had little effect on these older adults, but racial differences indicate that cultural values regarding family caregiving are important in arthritis care. © The Author(s) 2013.

Happiness matters : exploring the linkages between personality, personal happiness, and work-related psychological health among priests and sisters in Italy

OpenAIRE

Francis, Leslie J.; Crea, Giuseppe

2017-01-01

This study responds to the challenge posed by Rossetti’s work to explore the antecedents and consequences of individual differences in happiness among priests and religious sisters. The Oxford Happiness Questionnaire was completed together with measures of personality and work-related psychological health by 95 priests and 61 religious sisters. Overall the data demonstrated high levels of personal happiness among priests and religious sisters, but also significant signs of vulnerability. Pers...

Do brothers and sisters of siblings with intelectual disability need the support of social work?

OpenAIRE

Cardová, Michaela

2007-01-01

This thesis explores the experience and support needs of siblings with a brother or sister with intellectual disability. Through review of what is a quite limited literature and from original qualitative research, involving interviews with siblings, the author examines their social reality, focusing especially on their relationships with their disabled brother or sister and with the wider society. Particular attention is given to identifying to what extent the siblings' lives are influenced b...

Regulation of Centromere Localization of the Drosophila Shugoshin MEI-S332 and Sister-Chromatid Cohesion in Meiosis

Science.gov (United States)

Nogueira, Cristina; Kashevsky, Helena; Pinto, Belinda; Clarke, Astrid; Orr-Weaver, Terry L.

2014-01-01

The Shugoshin (Sgo) protein family helps to ensure proper chromosome segregation by protecting cohesion at the centromere by preventing cleavage of the cohesin complex. Some Sgo proteins also influence other aspects of kinetochore-microtubule attachments. Although many Sgo members require Aurora B kinase to localize to the centromere, factors controlling delocalization are poorly understood and diverse. Moreover, it is not clear how Sgo function is inactivated and whether this is distinct from delocalization. We investigated these questions in Drosophila melanogaster, an organism with superb chromosome cytology to monitor Sgo localization and quantitative assays to test its function in sister-chromatid segregation in meiosis. Previous research showed that in mitosis in cell culture, phosphorylation of the Drosophila Sgo, MEI-S332, by Aurora B promotes centromere localization, whereas Polo phosphorylation promotes delocalization. These studies also suggested that MEI-S332 can be inactivated independently of delocalization, a conclusion supported here by localization and function studies in meiosis. Phosphoresistant and phosphomimetic mutants for the Aurora B and Polo phosphorylation sites were examined for effects on MEI-S332 localization and chromosome segregation in meiosis. Strikingly, MEI-S332 with a phosphomimetic mutation in the Aurora B phosphorylation site prematurely dissociates from the centromeres in meiosis I. Despite the absence of MEI-S332 on meiosis II centromeres in male meiosis, sister chromatids segregate normally, demonstrating that detectable levels of this Sgo are not essential for chromosome congression, kinetochore biorientation, or spindle assembly. PMID:25081981

Sister-chromatid exchanges in nuclear fuel workers

International Nuclear Information System (INIS)

Prabhavathi, P. Aruna; Fatima, Shehla K.; Padmavathi, P.; Kumari, C. Kusuma; Reddy, P.P.

1995-01-01

Peripheral blood lymphocyte cultures of 116 smokers and 80 non-smokers who were occupationally exposed to uranyl compounds were analysed for sister-chromatid exchanges (SCEs). Blood samples were collected from 59 non-smokers (control group I) and 47 smokers (control group II) who were not exposed to uranium for control data. A significant increase in SCEs was observed among both smokers and non-smokers exposed to uranyl compounds when compared to their respective controls. In controls, a significant increase in the frequency of SCEs was observed in smokers when compared to non-smokers

What are sister chromatid exchanges

International Nuclear Information System (INIS)

Evans, H.J.

1977-01-01

The development of new staining techniques to visualise sister chromatid exchange (SCE) in cells exposed to mutagens has led to a better understanding of the mechanisms involved in the formation of such exchanges. SCE are induced by a wide variety of different physical and chemical agents and their incidence provides a sensitive indicator of DNA damage in proliferating mammalian cells. It is shown that lesions which affect one or both strands of the DNA can result in the development of SCE, but only when damaged DNA undergoes replication. The nature of the lesions, the frequency and distribution of SEC in mammalian cells; the sensitivity of the cells to their induction by X-radiation, ultraviolet radiation and chemical mutagens, are discussed and possible mechanisms involved in the formation of SCE during replication considered. (Auth.)

20 CFR 410.340 - Determination of relationship; parent, brother, or sister.

Science.gov (United States)

2010-04-01

... domiciled (see § 410.392) at the time of his death would find, under the law they would apply in determining..., brother, or sister. Where, under such law, the individual does not bear the relationship to the miner of...

Welcoming nora: a family event.

Science.gov (United States)

Walsh, Allison J; Walsh, Paul R; Walsh, Jane M; Walsh, Gavin T

2011-01-01

In this column, Allison and Paul Walsh share the story of the birth of Nora, their third baby and their second child to be born at home. Allison and Paul share their individual memories of labor and birth. But their story is only part of the story of Nora's birth. Nora's birth was a family event, with Allison and Paul's other children very much part of the experience. Jane and Gavin share their own memories of their baby sister's birth.

Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

Science.gov (United States)

Robitaille, Pierre; Merouani, Aicha; He, Ning; Pei, York

2011-09-01

This article describes two sisters with type III Bartter syndrome (BS) due to a novel missense variant of the CLCNKB gene. The phenotypic expression of the disease was very different in these two siblings. In one sister, the disease followed a very severe course, especially in the neonatal period and as a toddler. Both the classic symptoms and the biochemical features of the syndrome were striking. In addition, she presented with sensorineural deafness, a complication yet unreported in this subtype of BS In contrast, the least affected sister was symptom free and the biochemical features of the disease although present remained discrete throughout the prolonged follow-up. It is suggested that such a difference in the phenotypic expression of the disease is possibly secondary to the modifier effect of a gene and/or results from environmental factor(s).

Adult Sibling Relationships with Brothers and Sisters with Severe Disabilities

Science.gov (United States)

Rossetti, Zach; Hall, Sarah

2015-01-01

The purpose of this qualitative study was to examine perceptions of adult sibling relationships with a brother or sister with severe disabilities and the contexts affecting the relationships. Adult siblings without disabilities (N = 79) from 19 to 72 years of age completed an online survey with four open-ended questions about their relationship…

Risk of Breast Cancer in Families with Cleft Lip and Palate

DEFF Research Database (Denmark)

Dietz, Alexander; Pedersen, Dorthe Almind; Jacobsen, Rune

2012-01-01

PURPOSE: To test whether female subjects in families with cleft lip and/or palate (CL/P) have an increased risk of breast cancer. METHODS: By using the Danish Facial Cleft Registry, we identified female subjects with CL/P, mothers of children with CL/P, and sisters to CL/P cases for the Danish...

High prevalence of metabolic syndrome in young Hispanic women: findings from the national Sister to Sister campaign.

Science.gov (United States)

Rodriguez, Fátima; Naderi, Sahar; Wang, Yun; Johnson, Caitlin E; Foody, JoAnne M

2013-04-01

Hispanics are the fastest growing segment of the U.S. population and have a higher prevalence of cardiometabolic risk factors as compared with non-Hispanic whites. Further data suggests that Hispanics have undiagnosed complications of metabolic syndrome, namely diabetes mellitus, at an earlier age. We sought to better understand the epidemiology of metabolic syndrome in Hispanic women using data from a large, community-based health screening program. Using data from the Sister to Sister: The Women's Heart Health Foundation community health fairs from 2008 to 2009 held in 17 U.S. cities, we sought to characterize how cardiometabolic risk profiles vary across age for women by race and ethnicity. Metabolic syndrome was defined using the updated National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) guidelines, which included three or more of the following: Waist circumference ≥35 inches, triglycerides ≥150 mg/dL, high-density lipoprotein (HDL) <50 mg/dL, systolic blood pressure ≥130 mmHg or diastolic blood pressure ≥85 mmHg, or a fasting glucose ≥100 mg/dL. A total of 6843 community women were included in the analyses. Metabolic syndrome had a prevalence of 35%. The risk-adjusted odds ratio for metabolic syndrome in Hispanic women versus white women was 1.7 (95% confidence interval, 1.4, 2.0). Dyslipidemia was the strongest predictor of metabolic syndrome among Hispanic women. This disparity appeared most pronounced for younger women. Additional predictors of metabolic syndrome included black race, increasing age, and smoking. In a large, nationally representative sample of women, we found that metabolic syndrome was highly prevalent among young Hispanic women. Efforts specifically targeted to identifying these high-risk women are necessary to prevent the cardiovascular morbidity and mortality associated with metabolic syndrome.

Sister broods in the spruce bark beetle, Ips typographus (L.)

Czech Academy of Sciences Publication Activity Database

Davídková, Markéta; Doležal, Petr

2017-01-01

Roč. 405, DEC 01 (2017), s. 13-21 ISSN 0378-1127 Grant - others:Lesy ČR(CZ) 08/2009-2015 Institutional support: RVO:60077344 Keywords : re-emergence * sister broods * Ips typographus Subject RIV: EH - Ecology, Behaviour OBOR OECD: Zoology Impact factor: 3.064, year: 2016 http://www.sciencedirect.com/science/article/pii/S0378112717309507

Phylogenetic conservatism of thermal traits explains dispersal limitation and genomic differentiation of Streptomyces sister-taxa.

Science.gov (United States)

Choudoir, Mallory J; Buckley, Daniel H

2018-06-07

The latitudinal diversity gradient is a pattern of biogeography observed broadly in plants and animals but largely undocumented in terrestrial microbial systems. Although patterns of microbial biogeography across broad taxonomic scales have been described in a range of contexts, the mechanisms that generate biogeographic patterns between closely related taxa remain incompletely characterized. Adaptive processes are a major driver of microbial biogeography, but there is less understanding of how microbial biogeography and diversification are shaped by dispersal limitation and drift. We recently described a latitudinal diversity gradient of species richness and intraspecific genetic diversity in Streptomyces by using a geographically explicit culture collection. Within this geographically explicit culture collection, we have identified Streptomyces sister-taxa whose geographic distribution is delimited by latitude. These sister-taxa differ in geographic distribution, genomic diversity, and ecological traits despite having nearly identical SSU rRNA gene sequences. Comparative genomic analysis reveals genomic differentiation of these sister-taxa consistent with restricted gene flow across latitude. Furthermore, we show phylogenetic conservatism of thermal traits between the sister-taxa suggesting that thermal trait adaptation limits dispersal and gene flow across climate regimes as defined by latitude. Such phylogenetic conservatism of thermal traits is commonly associated with latitudinal diversity gradients for plants and animals. These data provide further support for the hypothesis that the Streptomyces latitudinal diversity gradient was formed as a result of historical demographic processes defined by dispersal limitation and driven by paleoclimate dynamics.

A Family with γ-Thalassemia and High Hb A2 Levels.

Science.gov (United States)

Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Taddei Masieri, Marina; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P; Ferlini, Alessandra; Ravani, Anna

2016-06-01

We describe a family carrying a γ-globin gene deletion associated with an increase of Hb A2 level beyond the normal range. The family included the proband, his sister and their father, all with increased Hb A2 and normal Hb F levels. The proband and his sister showed borderline values of mean corpuscular volume (MCV) and reduced values of mean corpuscular hemoglobin (Hb) (MCH). The proband was referred to our Medical Genetics Service for preconception counseling together with his partner, a typical β-thalassemia (β-thal) carrier. The results were negative for the most frequent α-thalassemia (α-thal) mutations, and had no significant sequence variations of the coding sequences and promoter of the β- and δ-globin genes. Quantitative analysis by multiplex ligation-dependent probe amplification (MPLA) of the β-globin gene cluster detected a heterozygous deletion, ranging between 2.1 and 4.7 kb, in the proband, his sister and the father. The deletion involved the (G)γ gene and (G)γ-(A)γ intergenic region, whereas the 3' region of the (A)γ gene was preserved. A subsequent gap-polymerase chain reaction (gap-PCR) showed that a hybrid (GA)γ fusion gene was present. The deletion segregated with the elevation of Hb A2. The MLPA analysis of the β-globin gene cluster in 150 control alleles excluded a common polymorphism. Despite stronger evidence being needed, the described family suggests a possible role of this γ-globin gene deletion in contributing to Hb A2 elevation, possibly by altering the transcription regulation of the cluster. We propose γ-globin gene dosage analysis to be performed in patients with unexplained elevated Hb A2 levels.

Metabolic syndrome, hypertension, and hyperlipidemia in mothers, fathers, sisters, and brothers of women with polycystic ovary syndrome: a systematic review and meta-analysis.

Science.gov (United States)

Yilmaz, Bulent; Vellanki, Priyathama; Ata, Baris; Yildiz, Bulent Okan

2018-02-01

To provide an evidence-based assessment of metabolic syndrome, hypertension, and hyperlipidemia in first-degree relatives of women with polycystic ovary syndrome (PCOS). Systematic review and meta-analysis. Not applicable. Mothers, fathers, sisters, and brothers of women with and without PCOS. An electronic-based search with the use of PubMed from 1960 to June 2015 and cross-checked references of relevant articles. Metabolic syndrome, hypertension and dyslipidemia, and surrogate markers, including systolic blood pressure (BP), diastolic BP, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides. Fourteen of 3,346 studies were included in the meta-analysis. Prevalence of the following was significantly increased in relatives of women with PCOS: metabolic syndrome (risk ratio [RR] 1.78 [95% confidence interval 1.37, 2.30] in mothers, 1.43 [1.12, 1.81] in fathers, and 1.50 [1.12, 2.00] in sisters), hypertension (RR 1.93 [1.58, 2.35] in fathers, 2.92 [1.92, 4.45] in sisters), and dyslipidemia (RR 3.86 [2.54, 5.85] in brothers and 1.29 [1.11, 1.50] in fathers). Moreover, systolic BP (mothers, sisters, and brothers), total cholesterol (mothers and sisters), low-density lipoprotein cholesterol (sisters), and triglycerides (mothers and sisters) were significantly higher in first-degree relatives of PCOS probands than in controls. Our results show evidence of clustering for metabolic syndrome, hypertension, and dyslipidemia in mothers, fathers, sisters, and brothers of women with PCOS. PROSPERO 2016 CRD42016048557. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Directory of Open Access Journals (Sweden)

Dussaillant Catalina

2012-11-01

Full Text Available Abstract Background Severe hypertriglyceridemia (HTG has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel. Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

Science.gov (United States)

Dussaillant, Catalina; Serrano, Valentina; Maiz, Alberto; Eyheramendy, Susana; Cataldo, Luis Rodrigo; Chavez, Matías; Smalley, Susan V; Fuentes, Marcela; Rigotti, Attilio; Rubio, Lorena; Lagos, Carlos F; Martinez, José Alfredo; Santos, José Luis

2012-11-15

Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

Familial placement and relations of Rehmannia and Triaenophora (Scrophulariaceae s.l.) inferred from five gene regions.

Science.gov (United States)

Xia, Zhi; Wang, Yin-Zheng; Smith, James F

2009-02-01

Accurate classification systems based on evolution are imperative for biological investigations. The recent explosion of molecular phylogenetics has resulted in a much improved classification of angiosperms. More than five phylogenetic lineages have been recognized from Scrophulariaceae sensu lato since the family was determined to be polyphyletic; however, questions remain about the genera that have not been assigned to one of the segregate families of Scrophulariaceae s.l. Rehmannia Liboschitz and Triaenophora Solereder are such genera with uncertain familial placement. There also is debate whether Triaenophora should be segregated from Rehmannia. To evaluate the phylogenetic relations between Rehmannia and Triaenophora, to find their closest relatives, and to verify their familial placement, we conducted phylogenetic analyses of the sequences of one nuclear DNA (ITS) region and four chloroplast DNA gene regions (trnL-F, rps16, rbcL, and rps2) individually and combined. The analyses showed that Rehmannia and Triaenophora are each strongly supported as monophyletic and together are sister to Orobanchaceae. This relation was corroborated by phytochemical and morphological data. Based on these data, we suggest that Rehmannia and Triaenophora represent the second nonparasitic branch sister to the remainder of Orobanchaceae (including Lindenbergia).

[Sibling relations from the family therapy perspective--support, attachment, rivalry and envy].

Science.gov (United States)

Cierpka, M

2001-01-01

In family therapy, during the last years more and more importance is attached to the dynamics of the sibling subsystem. In the present paper differences between them as well as similarities are discussed from the point of view of family theory. Relevant dimensions like support, attachment, rivalry and envy between brothers and sisters contribute essentially to the family dynamics. In this clinically orientated paper, we describe by means of a case example how the couple's conflicts after their separation is unconsciously repeated in the sibling subsystem. It is shown how the intergenerational dynamics can be interrupted by the initiative of the children and the initiated family therapy.

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Science.gov (United States)

Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

2012-06-01

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

20 CFR 410.380 - Determination of dependency; parent, brother, or sister.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 2 2010-04-01 2010-04-01 false Determination of dependency; parent, brother... MINE HEALTH AND SAFETY ACT OF 1969, TITLE IV-BLACK LUNG BENEFITS (1969- ) Relationship and Dependency § 410.380 Determination of dependency; parent, brother, or sister. An individual who is the miner's...

Family matters: The experiences and opinions of family members of persons with (severe) or profound intellectual disabilities

OpenAIRE

Luijkx, Jorien

2016-01-01

“I love my sister, but sometimes I don’t”. This is one of the statements made in the study focused on the experiences of family members of people with (profound) intellectual (and multiple) disabilities (both of individuals living in a residential facility as persons living at home). In recent years, there has been greater recognition of the important position of parents and siblings of people with (profound) intellectual (and multiple) disabilities and the importance of the wellbeing of all ...

PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

Directory of Open Access Journals (Sweden)

A. Nickavar

2006-09-01

Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

"Brothers and Sisters": A Novel Way to Teach Human Resources Management.

Science.gov (United States)

Bumpus, Minnette

2000-01-01

The novel "Brothers and Sisters" by Bebe Moore Campbell was used in a management course to explore human resource management issues, concepts, and theories. The course included prereading and postreading surveys, lecture, book review, and examination. Most of the students (92%) felt the novel was an appropriate way to meet course…

Phylogenetic Analysis of Seven WRKY Genes across the Palm Subtribe Attaleinae (Arecaceae) Identifies Syagrus as Sister Group of the Coconut

Science.gov (United States)

Meerow, Alan W.; Noblick, Larry; Borrone, James W.; Couvreur, Thomas L. P.; Mauro-Herrera, Margarita; Hahn, William J.; Kuhn, David N.; Nakamura, Kyoko; Oleas, Nora H.; Schnell, Raymond J.

2009-01-01

Background The Cocoseae is one of 13 tribes of Arecaceae subfam. Arecoideae, and contains a number of palms with significant economic importance, including the monotypic and pantropical Cocos nucifera L., the coconut, the origins of which have been one of the “abominable mysteries” of palm systematics for decades. Previous studies with predominantly plastid genes weakly supported American ancestry for the coconut but ambiguous sister relationships. In this paper, we use multiple single copy nuclear loci to address the phylogeny of the Cocoseae subtribe Attaleinae, and resolve the closest extant relative of the coconut. Methodology/Principal Findings We present the results of combined analysis of DNA sequences of seven WRKY transcription factor loci across 72 samples of Arecaceae tribe Cocoseae subtribe Attaleinae, representing all genera classified within the subtribe, and three outgroup taxa with maximum parsimony, maximum likelihood, and Bayesian approaches, producing highly congruent and well-resolved trees that robustly identify the genus Syagrus as sister to Cocos and resolve novel and well-supported relationships among the other genera of the Attaleinae. We also address incongruence among the gene trees with gene tree reconciliation analysis, and assign estimated ages to the nodes of our tree. Conclusions/Significance This study represents the as yet most extensive phylogenetic analyses of Cocoseae subtribe Attaleinae. We present a well-resolved and supported phylogeny of the subtribe that robustly indicates a sister relationship between Cocos and Syagrus. This is not only of biogeographic interest, but will also open fruitful avenues of inquiry regarding evolution of functional genes useful for crop improvement. Establishment of two major clades of American Attaleinae occurred in the Oligocene (ca. 37 MYBP) in Eastern Brazil. The divergence of Cocos from Syagrus is estimated at 35 MYBP. The biogeographic and morphological congruence that we see for

Constraining volcanic inflation at Three Sisters Volcanic Field in Oregon, USA, through microgravity and deformation modeling

Science.gov (United States)

Zurek, Jeffrey; William-Jones, Glyn; Johnson, Dan; Eggers, Al

2012-10-01

Microgravity data were collected between 2002 and 2009 at the Three Sisters Volcanic Complex, Oregon, to investigate the causes of an ongoing deformation event west of South Sister volcano. Three different conceptual models have been proposed as the causal mechanism for the deformation event: (1) hydraulic uplift due to continual injection of magma at depth, (2) pressurization of hydrothermal systems and (3) viscoelastic response to an initial pressurization at depth. The gravitational effect of continual magma injection was modeled to be 20 to 33 μGal at the center of the deformation field with volumes based on previous deformation studies. The gravity time series, however, did not detect a mass increase suggesting that a viscoelactic response of the crust is the most likely cause for the deformation from 2002 to 2009. The crust, deeper than 3 km, in the Three Sisters region was modeled as a Maxwell viscoelastic material and the results suggest a dynamic viscosity between 1018 to 5 × 1019 Pa s. This low crustal viscosity suggests that magma emplacement or stall depth is controlled by density and not the brittle ductile transition zone. Furthermore, these crustal properties and the observed geochemical composition gaps at Three Sisters can be best explained by different melt sources and limited magma mixing rather than fractional crystallization. More generally, low intrusion rates, low crustal viscosity, and multiple melt sources could also explain the whole rock compositional gaps observed at other arc volcanoes.

The determination of the tribe of family members in Luhak Limopuluh Koto, West Sumatera Indonesia

Science.gov (United States)

Bahri, S.; Abbas, A.; Bakar, N. N.

2018-01-01

In this paper, some mathematical models that state the tribe of the family members in Nagari Luhak Limopuluh Koto West Sumatera, Indonesia were built. The models were constructed by using the marriage rule and the ethnic data of Minangkabau community which embrace the matrilineal system. The marriage rule prohibits the same inter-tribal marriage while the matrilineal system causes the mother, child, and sibling tribes to be equal. Therefore, the matrices formed by marriage rule, mother-son tribal relation, someone-his/her sibling tribal relation, and the transpose of the matrices, are used in matrix multiplication to obtain the tribal models. The models are consecutively A, AC’, (AC’)B, ((AC’)B)W’, ((AC’)B)C, ((AC’)B)W, ((AC’)W’ for Denai, Denai’s mother, the sister of Denai’s mother, the brother of Denai’s mother, the husband of Denai’s mother’s sister, the son of Denai’s mother’s sister, the wife of Denai’s mother’s brother, and the Denai’s father models.

Psyche’s Sisters: Ambivalence of Sisterhood in Twentieth-century Irish Women’s Short Stories

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Ann Wan-lih Chang

2013-03-01

Full Text Available This paper examines and evaluates representations of problematic sisterly relationships in twentieth-century Irish women’s stories which display an emphasis on ambivalence and sibling rivalry.  The paper is based primarily on the literary output of Mary Lavin, Clare Boylan, Moy McCrory, Éilís Ní Dhuibhne, Jan Kennedy, Mary Morrissy and Claire Keegan.  The paper seeks, by reference both to feminist studies and Irish women’s short stories, to demonstrate the consequences and causes of a divided sisterhood which itself may be traced back to a suppression of expression of female solidarity embedded in western culture and manifested in western literary heritage.  Typically, such stories depict a conflict sourced in the need to develop self-identity and framed within the constraints imposed by separate social roles.  This kind of conflict results potentially in rivalry, antagonism, ambivalence, and the domination of one sibling by another.  Daughters/sisters are often depicted in these stories both as competing with each other for limited resources and also as seeking a sense of personal identity through mutual polarisation.  There are also stories into which are woven undertones of domination disguised as sisterly closeness, for which the actual motivation seems to be a repressed aspiration for intimacy.

[The work of Moscow communities of Sisters of Charity in own medical institutions].

Science.gov (United States)

Zorin, K V

2011-01-01

The article analyses the medical activities of Moscow communities of Sisters of Charity in curative and educational institutions organized by the communities themselves. The social ministration of communities on the territory of Moscow is considered.

Maria Carolina and Marie Antoinette: Sisters and Queens in the mirror of Jacobin Public Opinion

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Cinzia Recca

2014-09-01

Full Text Available Marie Antoinette of Franceand Maria Carolina of Naples, both consorts, contributed to a flourishing of matronage, reproducing conceptions of royal femininity that embraced both the private and public roles they were expected to fulfil. However, while the political role of the first Queen has been largely reconsidered, her sister Maria Carolina has not yet been adjudicated impartially. This is somewhat curious, because Maria Carolina inherited from her sister the same disregard towards the Revolution and this, as perceived by the Jacobins, was duly proposed in their acrimonious criticism of her political role. This paper aims to focus on this criticism, analysing how the charges against Maria Carolina in the post-French revolutionary period, were a political duplication of the Jacobin attacks on Marie Antoinette from 1791 onwards. From this point of view, the paper will focus on the portrait of Maria Carolina in 1793 revolutionary Parisby Giuseppe Gorani, an Italian Jacobin noble. His Mémoires Secrets – where Maria Carolina was represented as a wicked woman in the same terms previously employed to denounce her sister Marie Antoinette by the French Republicans – was well known across Italy. This subject dominated the main pamphlets and brochures published in Naples in 1799, during the brief duration of the Neapolitan Republic, because it legitimised the rebellion against the monarchy. After the fall of the Neapolitan Republic, the political attacks on Maria Carolina continued likewise in France, where many Neapolitan patriots were obliged to flee. Analysing  Giuseppe Gorani’s Mémoires we gather that the portrait of Marie Antoinette’s sister was painted according to the main stereotypes of  French revolutionary political culture.

Unique geometry of sister kinetochores in human oocytes during meiosis I may explain maternal age-associated increases in chromosomal abnormalities

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Jessica Patel

2016-02-01

Full Text Available The first meiotic division in human oocytes is highly error-prone and contributes to the uniquely high incidence of aneuploidy observed in human pregnancies. A successful meiosis I (MI division entails separation of homologous chromosome pairs and co-segregation of sister chromatids. For this to happen, sister kinetochores must form attachments to spindle kinetochore-fibres emanating from the same pole. In mouse and budding yeast, sister kinetochores remain closely associated with each other during MI, enabling them to act as a single unified structure. However, whether this arrangement also applies in human meiosis I oocytes was unclear. In this study, we perform high-resolution imaging of over 1900 kinetochores in human oocytes, to examine the geometry and architecture of the human meiotic kinetochore. We reveal that sister kinetochores in MI are not physically fused, and instead individual kinetochores within a pair are capable of forming independent attachments to spindle k-fibres. Notably, with increasing female age, the separation between kinetochores increases, suggesting a degradation of centromeric cohesion and/or changes in kinetochore architecture. Our data suggest that the differential arrangement of sister kinetochores and dual k-fibre attachments may explain the high proportion of unstable attachments that form in MI and thus indicate why human oocytes are prone to aneuploidy, particularly with increasing maternal age.

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

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Zobor, Ditta; Balousha, Ghassan; Baumann, Britta; Wissinger, Bernd

2014-01-01

Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples were collected from the index patient, his father, his affected sister, and two non-affected brothers. DNA sample from the index was subjected to high resolution genome-wide SNP array. Assuming identity-by-descent in this consanguineous family we applied homozygosity mapping to identify disease causing genes. The index patient reported night blindness since the age of 20 years, followed by moderate disease progression with decrease of peripheral vision, the development of photophobia and later on reduced central vision. At the age of 40 his visual acuity was counting fingers (CF) for both eyes, color discrimination was not possible and his visual fields were severely constricted. Funduscopic examination revealed a typical appearance of advanced RP with optic disc pallor, narrowed retinal vessels, bone-spicule like pigmentary changes in the mid-periphery and atrophic changes in the macula. His younger affected brother (37 years) was reported with overall milder symptoms, while the youngest sister (21 years) reported problems only with night vision. Applying high-density SNP arrays we identified several homozygous genomic regions one of which included the recently identified FAM161A gene mutated in RP28-linked autosomal recessive RP. Sequencing analysis revealed the presence of a novel homozygous nonsense mutation, c.1003C>T/p.R335X in the index patient and the affected sister. We identified an RP28-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A. RP in this family shows a typical disease onset with moderate to rapid progression

Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters

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Jain Nitin

2011-01-01

Full Text Available Synergistic convergence is an ocular motor anomaly where on attempted abduction or on attempted horizontal gaze, both the eyes converge. It has been related to peripheral causes such as congenital fibrosis of extraocular muscles (CFEOM, congenital cranial dysinnervation syndrome, ocular misinnervation or rarely central causes like horizontal gaze palsy with progressive scoliosis, brain stem dysplasia. We hereby report the occurrence of synergistic convergence in two sisters. Both of them also had kyphoscoliosis. Magnetic resonance imaging (MRI brain and spine in both the patients showed signs of brain stem dysplasia (split pons sign differing in degree (younger sister had more marked changes.

Sibling recognition and the development of identity: intersubjective consequences of sibling differentiation in the sister relationship.

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Vivona, Jeanine M

2013-01-01

Identity is, among other things, a means to adapt to the others around whom one must fit. Psychoanalytic theory has highlighted ways in which the child fits in by emulating important others, especially through identification. Alternately, the child may fit into the family and around important others through differentiation, an unconscious process that involves developing or accentuating qualities and desires in oneself that are expressly different from the perceived qualities of another person and simultaneously suppressing qualities and desires that are perceived as similar. With two clinical vignettes centered on the sister relationship, the author demonstrates that recognition of identity differences that result from sibling differentiation carries special significance in the sibling relationship and simultaneously poses particular intersubjective challenges. To the extent that the spotlight of sibling recognition delimits the lateral space one may occupy, repeatedly frustrated desires for sibling recognition may have enduring consequences for one's sense of self-worth and expectations of relationships with peers and partners.

RPA Mediates Recruitment of MRX to Forks and Double-Strand Breaks to Hold Sister Chromatids Together.

Science.gov (United States)

Seeber, Andrew; Hegnauer, Anna Maria; Hustedt, Nicole; Deshpande, Ishan; Poli, Jérôme; Eglinger, Jan; Pasero, Philippe; Gut, Heinz; Shinohara, Miki; Hopfner, Karl-Peter; Shimada, Kenji; Gasser, Susan M

2016-12-01

The Mre11-Rad50-Xrs2 (MRX) complex is related to SMC complexes that form rings capable of holding two distinct DNA strands together. MRX functions at stalled replication forks and double-strand breaks (DSBs). A mutation in the N-terminal OB fold of the 70 kDa subunit of yeast replication protein A, rfa1-t11, abrogates MRX recruitment to both types of DNA damage. The rfa1 mutation is functionally epistatic with loss of any of the MRX subunits for survival of replication fork stress or DSB recovery, although it does not compromise end-resection. High-resolution imaging shows that either the rfa1-t11 or the rad50Δ mutation lets stalled replication forks collapse and allows the separation not only of opposing ends but of sister chromatids at breaks. Given that cohesin loss does not provoke visible sister separation as long as the RPA-MRX contacts are intact, we conclude that MRX also serves as a structural linchpin holding sister chromatids together at breaks. Copyright © 2016 Elsevier Inc. All rights reserved.

Empirical Psycho-Aesthetics and Her Sisters: Substantive and Methodological Issues--Part II

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Konecni, Vladimir J.

2013-01-01

Empirical psycho-aesthetics is approached in this two-part article from two directions. Part I, which appeared in the Winter 2012 issue of "JAE," addressed definitional and organizational issues, including the field's origins, its relation to "sister" disciplines (experimental philosophy, cognitive neuroscience of art, and neuroaesthetics), and…

Familial Granuloma Annulare

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Zennure Takci

2015-09-01

Full Text Available Granuloma annulare is a benign, asymptomatic, relatively common, often self-limited chronic granulomatos disorder of the skin that can affect both children and adults. The primary skin lesion usually is grouped papules in an enlarging annular shape, with color ranging from flesh-colored to erythematous. The two most common types of granuloma annulare are localized, which typically is found on the lateral or dorsal surfaces of the hands and feet; and disseminated, which is widespread. Rarely, familial cases of granuloma annulare has been reported. Herein, we report two sisters with annular papules and plaques diagnosed as granuloma annulare with the clinical and pathological findings. [J Contemp Med 2015; 5(3.000: 189-191

Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family

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H S Mahapatra

2015-01-01

Full Text Available We report a family with a rare genetic disorder arising out of mutation in the gene that encodes for the enzyme lecithin-cholesterol acyltransferase (LCAT. The proband presented with nephrotic syndrome, hemolytic anemia, cloudy cornea, and dyslipidemia. Kidney biopsy showed certain characteristic features to suggest LCAT deficiency, and the enzyme activity in the serum was undetectable. Mother and younger sister showed corneal opacity and dyslipidemia but no renal or hematological involvement. These two members had a milder manifestation of the disease called fish eye disease. This case is presented to emphasize the importance of taking family history and doing a good clinical examination in patients with nephrotic syndrome and carefully analyze the lipid fractions in these subset of patients.

[Familial Wolfram syndrome].

Science.gov (United States)

Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

2014-11-01

Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Familial Predisposition of Primary Dysmenorrhea among Senior High School Girl Students

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Prema Sharlini

2015-12-01

Full Text Available Background: Dysmenorrhea is a common female reproductive problem in women of active reproductive age which is characterized by menstrual pain or cramps in a women’s lower abdomen or back. Dysmenorrhea can be classified into primary and secondary. One of the associated risk factor of primary dysmenorrhoeais the family history, however the study on the family history of primary dysmenorrhea with recurrent menstrual pain is limited. This study was conducted to identify the correlation between family history and primary dysmenorrhea in high school girls. Methods: This cross sectional study was conducted at several senior high schools in Jatinangor from April−June 2013. One hundred and sixty two students were included in this study. The sample size was calculated based on the unpaired−dichotomous variable for the two−sided formula. A self administered questionnaire was distributed to the senior high school girl students who were in their menarche age, menstrual cycle characteristics, presence or absence of dysmenorrhea, severity of pain and presence dysmenorrhea in mothers and in sisters were inquired. Data were analyzed using chi square test. Results: Overall, there were association between positive family history and primary dysmenorrhea among the students with (p<0.001. The prevalence of dysmenorrhea in the students was 92.6% with 95% confidence interval which was 87.5−95.7%. The prevalence rate was 67.9% in mothers with 95% confidence interval which is 60.4−74.6% and 80.2% prevalence of primary dysmenorrhoea in sisters with 95% confidence interval which is 73.4−85.6%. Conclusions: There is a significant association between positive family history and primary dysmenorrhea

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

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

2015-01-01

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

Birth weight and fetal growth in infants born to female hairdressers and their sisters.

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Axmon, A; Rylander, L

2009-03-01

To investigate birth weight and fetal growth in female hairdressers, while controlling for intergenerational effects and effects related to childhood exposures. A cohort of women who had attended vocational schools for hairdressers were compared to their sisters with respect to birth weight and fetal growth (measured as small for gestational age (SGA) or large for gestational age (LGA), respectively) in their infants. In total, 6223 infants born to 3137 hairdressers and 8388 infants born to 3952 hairdressers' sisters were studied. Among the infants born to the hairdressers' sisters, the distribution of birth weights were wider than that among the infants born to the hairdressers. This was also reflected in that hairdresser cohort affiliation tended to be protective against both SGA (odds ratio 0.80; 95% confidence interval 0.49 to 1.31) and LGA (0.77; 0.54 to 1.09). For LGA, this effect was even more pronounced among women who had actually worked as hairdressers during at least one pregnancy (0.60; 0.39 to 0.92). The infants born to these women also had a significantly lower mean birth weight (3387 g vs 3419 g; p = 0.033). The results from the present study suggest that infants born to hairdressers have a decreased risk of being LGA. This is most likely not caused by a shift in birth weight distribution or abnormal glucose metabolism.

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

Science.gov (United States)

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

1984-10-01

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

Exploring the transition from\\ud staff nurse to\\ud ward sister/manager –\\ud An exploratory case study

OpenAIRE

Enterkin, Judith

2016-01-01

Background\\ud The ward sister/manager figure has traditionally been considered the ward based\\ud clinical leader. This role has evolved over time in response to professional and\\ud political demands; despite or because of this, reports of role ambiguity exist and\\ud the ward sister/manager position has become increasingly difficult to recruit to,\\ud with nurses arguably looking to roles perceived to have greater influence and\\ud status, but less onerous managerial responsibility. Understandin...

Rainbow families: the sociological path of homosexuals parenting

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Giuseppina La Delfa

2013-10-01

Full Text Available Nowadays rainbow families can live openly, thanks to the fact that society has deeply changed since the 60’s. It is clear by now to all sociologists that in the western society children’s birth and care are less and less jointed to the concept of “one father, one mother, and one hearth”. Today we make children by ourselves, or by two (but not always a man and a woman, or even by three or four, if adding to the intentional parents also the donors’ and/or the surrogate mothers’ participations, or if considering adoptive children conceived by others, but only parented by the intentional parents, etc. Among blended families, co-parented families, single mothers parenting their children with help from some friends, or sisters, or mothers, or grandparents of theirs, the arrangements of families, and of children’s attachments, are just unlimited. In this context there is space for our families, even if resistance is strong, especially in Italy, while half of Europe is now recognizing and upholding these new families.

Genome-Wide Comparative Gene Family Classification

Science.gov (United States)

Frech, Christian; Chen, Nansheng

2010-01-01

Correct classification of genes into gene families is important for understanding gene function and evolution. Although gene families of many species have been resolved both computationally and experimentally with high accuracy, gene family classification in most newly sequenced genomes has not been done with the same high standard. This project has been designed to develop a strategy to effectively and accurately classify gene families across genomes. We first examine and compare the performance of computer programs developed for automated gene family classification. We demonstrate that some programs, including the hierarchical average-linkage clustering algorithm MC-UPGMA and the popular Markov clustering algorithm TRIBE-MCL, can reconstruct manual curation of gene families accurately. However, their performance is highly sensitive to parameter setting, i.e. different gene families require different program parameters for correct resolution. To circumvent the problem of parameterization, we have developed a comparative strategy for gene family classification. This strategy takes advantage of existing curated gene families of reference species to find suitable parameters for classifying genes in related genomes. To demonstrate the effectiveness of this novel strategy, we use TRIBE-MCL to classify chemosensory and ABC transporter gene families in C. elegans and its four sister species. We conclude that fully automated programs can establish biologically accurate gene families if parameterized accordingly. Comparative gene family classification finds optimal parameters automatically, thus allowing rapid insights into gene families of newly sequenced species. PMID:20976221

Gay men with AIDS and their families of origin: an analysis of social support.

Science.gov (United States)

Kadushin, G

1996-05-01

This article reviews the literature on the relationships between gay men with AIDS and their families of origin to determine why the family is not a principal source of social support. Several reasons explain the absence of the family from the support network, including the family's lack of acceptance of homosexuality and the relationship with a male partner; the stigma associated with AIDS; the inability of family members to communicate openly about homosexuality and AIDS; the lack of competence among family members in dealing with HIV issues; and overprotective, infantilizing behavior by parents. A sibling, most often a sister, is the family member to whom the gay man with AIDS feels closest and from whom he is most likely to seek support. Implications for practice and research are discussed.

Variation in reproductive outcomes of women with histories of bulimia nervosa, anorexia nervosa, or eating disorder not otherwise specified relative to the general population and closest-aged sisters.

Science.gov (United States)

Tabler, Jennifer; Utz, Rebecca L; Smith, Ken R; Hanson, Heidi A; Geist, Claudia

2018-02-01

This study seeks to examine the long-term reproductive consequences of eating disorders (ED), to assess variation in reproductive outcomes by ED type, and to examine reproductive differences between women with previous ED diagnosis and their discordant sisters. Using a sample of women with previous ED diagnosis generated by the Utah Population Database, this study compares the fecundity (parity) and age at first birth of women by ED subtype (bulimia nervosa [BN], anorexia nervosa [AN], and ED not otherwise specified [EDNOS]) (n = 1,579). We also employed general population match case-control, and discordant sibling pair analyses, to estimate the magnitude of association between EDs and reproductive outcomes. Women previously diagnosed with AN or EDNOS experienced delayed first birth (HRR = 0.33, HRR = 0.34, respectively) and lower parity (IRR = 0.19, IRR = 0.22, respectively) relative to BN (p < .05), the general population (p < .05), and closest-aged sisters (p < .05). Women previously diagnosed with BN experienced more moderate reductions and delays to their reproduction, and had similar reproductive outcomes as their discordant sisters. Clinicians should consider ED type and family fertility histories when addressing the long-term reproductive health needs of women with prior AN, BN, or EDNOS diagnosis. Women previously diagnosed with AN or EDNOS likely experience the greatest reductions and delays in reproduction across their lifespan. Reproductive health screenings may be especially critical for the wellbeing of women with a history of AN or EDNOS. © 2018 Wiley Periodicals, Inc.

Between school, family and media: do the children carry energy-saving messages and practices?

Energy Technology Data Exchange (ETDEWEB)

Bartiaux, Francoise (Inst. of Demography, Univ. Catholique de Louvain (Belgium)). e.mail: francoise.bartiaux@uclouvain.be

2009-07-01

Today, children are the focus of communication and sensitisation measures to increase their environmental concern and their energy saving behaviours. This paper aims at exploring whether, with whom and how children may be actors relative to these environment and energy issues. In particular, this paper identifies the sources of information and influence of the children and shows whether the children influence other actors, especially their family, to save energy in their daily life. This paper is based on a qualitative research that has been realised in French-speaking Belgium in 2007-2008; data were gathered in 13 families whose elder child is 10 or 11 years old. In-depth interviews were realised with at least this child (and sometimes with younger brother(s) and/or sister(s) too) and one parent. Topics covered included energy-related practices and knowledge of the children as well as the network of actors surrounding them. Results indicate that the child is neither powerful nor passive, nor a trustful carrier of energy-related 'good' practices. The necessary conditions for the child being such a good carrier are shed into light and depend on the relations within and between the different organisations the child belongs to (family, school, pairs) or has access to (media, Internet).

Women’s Equal Rights and Islam in Sudanese Republican Thought: A Translation of Three Family Law Booklets from 1975, Produced and Circulated by the Republican Sisters

OpenAIRE

al-Nagar, Samia; Tønnessen, Liv; Taha, Asma Mahmoud Muhammed

2015-01-01

This paper includes a translation of three booklets produced by the Sudanese Republican Sisters in commemoration of International Women’s Day in 1975: (i) Women Rights in the Constitution and under Sudanese Sharia Laws , (i) Divorce Is Not an Original Precept in Islam , and (iii) Polygamy Is Not a Principle of Islam. The booklets give insights into radical views on women’s equal rights in Islam long before the term “Islamic feminism” started to circulate. The booklets tackle contested iss...

Prevalence of metabolic syndrome in the family members of women with polycystic ovary syndrome from North India.

Science.gov (United States)

Shabir, Iram; Ganie, Mohd Ashraf; Zargar, Mohd Afzal; Bhat, Dilafroz; Mir, Mohd Muzzafar; Jan, Aleem; Shah, Zaffar Amin; Jan, Vicar; Rasool, Riyaz; Naqati, Andleeb

2014-05-01

Polycystic ovary syndrome (PCOS) is the most complex and common endocrine disorder of women in reproductive years. In addition to irregular menstrual cycles, chronic anovulation and hyperandrogenism, it has many metabolic manifestations such as obesity, hyperlipidemia, hyperinsulinemia, insulin resistance, dysglycemia, increased risk of cardiovascular disease or possibly endometrial cancer. Familial clustering of PCOS in consistence with the genetic susceptibility has been described. The present study assessed the clinical, biochemical and hormonal parameters including prevalence of metabolic syndrome by two different criteria in the first- degree relatives of patients with PCOS. The average age of 37 index patients was 23 ± 3.6 years, with the mean age of menarche as 13.3 ± 1.2 years. The mean age and age of menarche in mothers (n = 22) was 48.8 ± 5.1 and 13 ± 1.3 years, respectively, whereas as it was 23.5 ± 4.7 and 13.3 ± 1.2 years in sisters (n = 22), respectively. Metabolic syndrome (MS) defined by International Diabetes Federation (IDF) criteria was present in 10 index patients, 1 brother, 4 sisters, 17 mothers and 15 fathers while as by Adult Treatment Panel III (ATP III) it was in 8 index patients, 5 sisters, 16 mothers and 11 fathers. The presence of MS or related metabolic derangements is high in the family members of women with PCOS.

[Spinocerebellar ataxia type 8: the case of a Spanish family].

Science.gov (United States)

Mayo-Cabrero, D; Sánchez-Migallón, M; Cantarero, S; García-Ruiz Espiga, P J; Giménez-Pardo, A; Trujillo-Tiebas, M; Ayuso-García, C

Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histiocytosis X. A clinico genetic study was conducted on the patient and several members of his family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic. There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16 37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X.

Gender Gaps in the Effects of Childhood Family Environment

DEFF Research Database (Denmark)

Brenøe, Anne Ardila; Lundberg, Shelly

2016-01-01

We examine the differential effects of family disadvantage on the education and adult labor market outcomes of men and women using high-quality administrative data on the entire population of Denmark born between 1966 and 1995. We link parental education and family structure during childhood...... to male-female and brother-sister differences in teenage outcomes, educational attainment, and adult earnings and employment. Our results are consistent with U.S. findings that boys benefit more from an advantageous family environment than do girls in terms of the behavior and grade-school outcomes....... Father's education, which has not been examined in previous studies, is particularly important for sons. However, we find a very different pattern of parental influence on adult outcomes. The gender gaps in educational attainment, employment, and earnings are increasing in maternal education, benefiting...

Phylogenetic relationships and evolutionary history of the reef fish family Labridae.

Science.gov (United States)

Westneat, Mark W; Alfaro, Michael E

2005-08-01

The family Labridae (including scarines and odacines) contains 82 genera and about 600 species of fishes that inhabit coastal and continental shelf waters in tropical and temperate oceans throughout the world. The Labridae (the wrasses) is the fifth largest fish family and second largest marine fish family, and is one of the most morphologically and ecologically diversified families of fishes in size, shape, and color. Labrid phylogeny is a long-standing problem in ichthyology that is part of the larger question of relationships within the suborder Labroidei. A phylogenetic analysis of labrids was conducted to investigate relationships among the six classical tribes of wrasses, the affinities of the wrasses to the parrotfishes (scarines), and the broad phylogenetic structure among labrid genera. Four gene fragments were sequenced from 98 fish species, including 84 labrid fishes and 14 outgroup taxa. Taxa were chosen from all major labrid clades and most major global ocean regions where labrid fishes exist, as well as cichlid, pomacentrid, and embiotocid outgroups. From the mitochondrial genome we sequenced portions of 12S rRNA (1000 bp) and 16S rRNA (585 bp), which were aligned by using a secondary structure model. From the nuclear genome, we sequenced part of the protein-coding genes RAG2 (846 bp) and Tmo4C4 (541 bp). Maximum likelihood, maximum parsimony, and Bayesian analyses on the resulting 2972 bp of DNA sequence produced similar topologies that confirm the monophyly of a family Labridae that includes the parrotfishes and butterfishes and strong support for many previously identified taxonomic subgroups. The tribe Hypsigenyini (hogfishes, tuskfishes) is the sister group to the remaining labrids and includes odacines and the chisel-tooth wrasse Pseudodax moluccanus, a species previously considered close to scarines. Cheilines and scarines are sister-groups, closely related to the temperate Labrini, and pseudocheilines and cheilines are split in all phylogenies

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3

International Nuclear Information System (INIS)

Joseph, Leo; Joseph, Selvanayagam; Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David; Presneau, Nadege; O'Donnell, Paul; Diss, Tim; Flanagan, Adrienne Margaret

2010-01-01

To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3

Energy Technology Data Exchange (ETDEWEB)

Joseph, Leo; Joseph, Selvanayagam [Vinodhagan Memorial Hospital and Dr. Joseph' s Ortho Clinic, Department of Orthopaedic Surgery, Thanjavur (India); Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); Presneau, Nadege [University College London (UCL), Cancer Institute, London (United Kingdom); O' Donnell, Paul [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); University College London (UCL), The Institute of Orthopaedics and Musculoskeletal Science, London (United Kingdom); Diss, Tim [University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); Flanagan, Adrienne Margaret [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Cancer Institute, London (United Kingdom); University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); Institute of Orthopaedics and Musculoskeletal Science, Stanmore, Middlesex (United Kingdom)

2010-01-15

To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)

Geodetic observations and modeling of magmatic inflation at the Three Sisters volcanic center, central Oregon Cascade Range, USA

Science.gov (United States)

Dzurisin, Daniel; Lisowski, Michael; Wicks, Charles W.; Poland, Michael P.; Endo, Elliot T.

2006-02-01

Tumescence at the Three Sisters volcanic center began sometime between summer 1996 and summer 1998 and was discovered in April 2001 using interferometric synthetic aperture radar (InSAR). Swelling is centered about 5 km west of the summit of South Sister, a composite basaltic-andesite to rhyolite volcano that last erupted between 2200 and 2000 yr ago, and it affects an area ˜20 km in diameter within the Three Sisters Wilderness. Yearly InSAR observations show that the average maximum displacement rate was 3-5 cm/yr through summer 2001, and the velocity of a continuous GPS station within the deforming area was essentially constant from June 2001 to June 2004. The background level of seismic activity has been low, suggesting that temperatures in the source region are high enough or the strain rate has been low enough to favor plastic deformation over brittle failure. A swarm of about 300 small earthquakes ( Mmax = 1.9) in the northeast quadrant of the deforming area on March 23-26, 2004, was the first notable seismicity in the area for at least two decades. The U.S. Geological Survey (USGS) established tilt-leveling and EDM networks at South Sister in 1985-1986, resurveyed them in 2001, the latter with GPS, and extended them to cover more of the deforming area. The 2001 tilt-leveling results are consistent with the inference drawn from InSAR that the current deformation episode did not start before 1996, i.e., the amount of deformation during 1995-2001 from InSAR fully accounts for the net tilt at South Sister during 1985-2001 from tilt-leveling. Subsequent InSAR, GPS, and leveling observations constrain the source location, geometry, and inflation rate as a function of time. A best-fit source model derived from simultaneous inversion of all three datasets is a dipping sill located 6.5 ± 2.5 km below the surface with a volume increase of 5.0 × 10 6 ± 1.5 × 10 6 m 3/yr (95% confidence limits). The most likely cause of tumescence is a pulse of basaltic magma

The first record of a trans-oceanic sister-group relationship between obligate vertebrate troglobites.

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Prosanta Chakrabarty

Full Text Available We show using the most complete phylogeny of one of the most species-rich orders of vertebrates (Gobiiformes, and calibrations from the rich fossil record of teleost fishes, that the genus Typhleotris, endemic to subterranean karst habitats in southwestern Madagascar, is the sister group to Milyeringa, endemic to similar subterranean systems in northwestern Australia. Both groups are eyeless, and our phylogenetic and biogeographic results show that these obligate cave fishes now found on opposite ends of the Indian Ocean (separated by nearly 7,000 km are each others closest relatives and owe their origins to the break up of the southern supercontinent, Gondwana, at the end of the Cretaceous period. Trans-oceanic sister-group relationships are otherwise unknown between blind, cave-adapted vertebrates and our results provide an extraordinary case of Gondwanan vicariance.

Child, Parent and Family Factors as Predictors of Adjustment for Siblings of Children with a Disability

Science.gov (United States)

Giallo, R.; Gavidia-Payne, S.

2006-01-01

Background: Siblings adjust to having a brother or sister with a disability in diverse ways. This study investigated a range of child, parent and family factors as predictors of sibling adjustment outcomes. Methods: Forty-nine siblings (aged 7-16 years) and parents provided information about (1) sibling daily hassles and uplifts; (2) sibling…

Associations of women's position in the household and food insecurity with family planning use in Nepal.

Science.gov (United States)

Diamond-Smith, Nadia; Raj, Anita; Prata, Ndola; Weiser, Sheri D

2017-01-01

Women in Nepal have low status, especially younger women in co-resident households. Nepal also faces high levels of household food insecurity and malnutrition, and stagnation in uptake of modern family planning methods. This study aims to understand if household structure and food insecurity interact to influence family planning use in Nepal. Using data on married, non-pregnant women aged 15-49 with at least one child from the Nepal 2011 Demographic and Health Survey (N = 7,460), we explore the relationship between women's position in the household, food insecurity as a moderator, and family planning use, using multi-variable logistic regressions. We adjust for household and individual factors, including other status-related variables. In adjusted models, living in a food insecure household and co-residing with in-laws either with no other daughter-in-laws or as the eldest or youngest daughter-in-law (compared to not-co-residing with in-laws) are all associated with lower odds of family planning use. In the interaction model, younger-sisters-in-law and women co-residing with no sisters-in-law in food insecure households have the lowest odds of family planning use. This study shows that household position is associated with family planning use in Nepal, and that food insecurity modifies these associations-highlighting the importance of considering both factors in understanding reproductive health care use in Nepal. Policies and programs should focus on the multiple pathways through which food insecurity impacts women's reproductive health, including focusing on women with the lowest status in households.

The first mitochondrial genome for the butterfly family Riodinidae (Abisara fylloides) and its systematic implications.

Science.gov (United States)

Zhao, Fang; Huang, Dun-Yuan; Sun, Xiao-Yan; Shi, Qing-Hui; Hao, Jia-Sheng; Zhang, Lan-Lan; Yang, Qun

2013-10-01

The Riodinidae is one of the lepidopteran butterfly families. This study describes the complete mitochondrial genome of the butterfly species Abisara fylloides, the first mitochondrial genome of the Riodinidae family. The results show that the entire mitochondrial genome of A. fylloides is 15 301 bp in length, and contains 13 protein-coding genes, 2 ribosomal RNA genes, 22 transfer RNA genes and a 423 bp A+T-rich region. The gene content, orientation and order are identical to the majority of other lepidopteran insects. Phylogenetic reconstruction was conducted using the concatenated 13 protein-coding gene (PCG) sequences of 19 available butterfly species covering all the five butterfly families (Papilionidae, Nymphalidae, Peridae, Lycaenidae and Riodinidae). Both maximum likelihood and Bayesian inference analyses highly supported the monophyly of Lycaenidae+Riodinidae, which was standing as the sister of Nymphalidae. In addition, we propose that the riodinids be categorized into the family Lycaenidae as a subfamilial taxon. The Riodinidae is one of the lepidopteran butterfly families. This study describes the complete mitochondrial genome of the butterfly species Abisara fylloides , the first mitochondrial genome of the Riodinidae family. The results show that the entire mitochondrial genome of A. fylloides is 15 301 bp in length, and contains 13 protein-coding genes, 2 ribosomal RNA genes, 22 transfer RNA genes and a 423 bp A+T-rich region. The gene content, orientation and order are identical to the majority of other lepidopteran insects. Phylogenetic reconstruction was conducted using the concatenated 13 protein-coding gene (PCG) sequences of 19 available butterfly species covering all the five butterfly families (Papilionidae, Nymphalidae, Peridae, Lycaenidae and Riodinidae). Both maximum likelihood and Bayesian inference analyses highly supported the monophyly of Lycaenidae+Riodinidae, which was standing as the sister of Nymphalidae. In addition, we propose

X-ray- and TEM-induced mitotic recombination in Drosophila melanogaster: Unequal and sister-strand recombination

International Nuclear Information System (INIS)

Becker, H.J.

1975-01-01

Twin mosaic spots of dark-apricot and light-apricot ommatidia were found in the eyes of wsup(a)/wsup(a) females, of wsup(a) males, of females homozygous for In(1)sc 4 , wsup(a) and of attached-X females homozygous for wsup(a). The flies were raised from larvae which had been treated with 1,630 R of X-rays at the age of 48-52 hours. An additional group of wsup(a)/wsup(a) females and wsup(a) males came from larvae that had been fed with triethylene melamine (TEM) at the age of 22-24 hours. The twin spots apparently were the result of induced unequal mitotic recombination, i.e. from unequal sister-strand recombination in the males and from unequal sister-strand recombination as well as, possibly, unequal recombination between homologous strands in the females. That is, a duplication resulted in wsup(a)Dpwsup(a)/wsup(a) dark-apricto ommatidia and the corresponding deficiency in an adjacent area of wsup(a)/Dfwsup(a) light-apricot ommatidia. In an additional experiment sister-strand mitotic recombination in the ring-X chromosome of ring-X/rod-X females heterozygous for w and wsup(co) is believed to be the cause for X-ray induced single mosaic spots that show the phenotype of the rod-X marker. (orig.) [de

Dealing with conflict - The role of the ward sister

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L.M. Cremer

1980-09-01

Full Text Available In the course of her duties, the ward sister has to contend with many forms of conflict, discord and dissension. These involve conflict of the intrapersonal, interpersonal and intergroup varieties. Conflict is in the main, disruptive and dysfunctional. Skilful management, however, embodying cooperative effort in its reduction can produce constructive and positive results. Conflict management strategies are therefore either restrictive or constructive. Persons in serious conflict suffer varied degrees of personality disequilibrium, which necessitates emotional first aid or crisis intervention. Such primary preventive care is applicable to patients, their relatives, and members of the nursing staff in such need.

[Wolfram syndrome: clinical and genetic analysis in two sisters].

Science.gov (United States)

Conart, J-B; Maalouf, T; Jonveaux, P; Guerci, B; Angioi, K

2011-10-01

Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Familial melanoma associated with dominant ultraviolet radiation sensitivity

International Nuclear Information System (INIS)

Ramsay, R.G.; Chen, P.; Imray, F.P.; Kidson, C.; Lavin, M.F.; Hockey, A.

1982-01-01

Sensitivity to ultraviolet radiation was studied in lymphoblastoid cell lines derived from 32 members of two families with histories of multiple primary melanomas in several generations. As assayed by colony formation in agar or by trypan blue exclusion following irradiation, cellular sensitivity showed a bimodal distribution. All persons with melanoma or multiple moles were in the sensitive group, while some family members exhibited responses similar to those of controls. Cells from four cases of sporadic melanoma showed normal levels of sensitivity. The data are consistent with a dominantly inherited ultraviolet light sensitivity associated with these examples of familial melanoma. Spontaneous and ultraviolet light-induced sister chromatid exchange frequencies were similar to those in control cell lines. No defect in excision repair was detected in any of the above cell lines, but the sensitive group showed postirradiation inhibition of DNA replication intermediate between controls and an excision-deficient xeroderma pigmentosum cell line

Climate niches of milkweeds with plesiomorphic traits (Secamonoideae; Apocynaceae) and the milkweed sister group link ancient African climates and floral evolution.

Science.gov (United States)

Livshultz, Tatyana; Mead, Jerry V; Goyder, David J; Brannin, Michelle

2011-12-01

Climate change that increases mortality of plants and pollinators can create mate-finding Allee effects and thus act as a strong selective force on floral morphology. Milkweeds (Secamonoideae and Asclepiadoideae; Apocynaceae) are typically small plants of seasonally dry habitats, with pollinia and high pollen-transfer efficiency. Their sister group (tribe Baisseeae and Dewevrella) is mostly comprised of giant lianas of African rainforests, with pollen in monads. Comparison of the two groups motivated a new hypothesis: milkweeds evolved in the context of African aridification and the shifting of rainforest to dry forest. Pollinia and high pollen-transfer efficiency may have been adaptations that alleviated mate-finding Allee effects generated by high mortality during droughts. We formally tested whether milkweeds have a drier climate niche by comparing milkweeds with plesiomorphic traits (Secamonoideae) and the milkweed sister group in continental Africa. We georeferenced specimens of the milkweed sister group and Secamonoideae in continental Africa, extracted 19 climatic variables from the Worldclim model, conducted factor analysis to identify correlated suites of variables, and compared the frequency distributions of the two lineages relative to each factor. The distributions of Secamonoideae and the milkweed sister group differed significantly relative to four factors, each correlated with a distinct suite of climate parameters: (1) air temperature (Secamonoideae: cooler), (2) total and (3) summer precipitation (Secamonoideae: drier), and (4) temperature seasonality and isothermality (Secamonoideae: more seasonal and less isothermal). Secamonoideae in continental Africa inhabit drier, cooler sites than do the milkweed sister group, consistent with a shift from rainforests to dry forests in a cooling climate.

Psychotherapeutic assistance to adolescent siblings in families with a Down syndrome member

OpenAIRE

2015-01-01

M.A. (Counselling Psychology) Sibling interaction is often an overlooked aspect of family functioning. For many years there has been an overemphasis on the importance of parental influences on children, yet common sense dictates that brothers and sisters must have some effect on each other even though this effect may not always be obvious. The sibling relationship is a life-long process, and is therefore highly influential throughout the life cycle ...

Prevalence of metabolic syndrome in the family members of women with polycystic ovary syndrome from North India

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Iram Shabir

2014-01-01

Full Text Available Background: Polycystic ovary syndrome (PCOS is the most complex and common endocrine disorder of women in reproductive years. In addition to irregular menstrual cycles, chronic anovulation and hyperandrogenism, it has many metabolic manifestations such as obesity, hyperlipidemia, hyperinsulinemia, insulin resistance, dysglycemia, increased risk of cardiovascular disease or possibly endometrial cancer. Familial clustering of PCOS in consistence with the genetic susceptibility has been described. Materials and Methods: The present study assessed the clinical, biochemical and hormonal parameters including prevalence of metabolic syndrome by two different criteria in the first- degree relatives of patients with PCOS. Results: The average age of 37 index patients was 23 ± 3.6 years, with the mean age of menarche as 13.3 ± 1.2 years. The mean age and age of menarche in mothers (n = 22 was 48.8 ± 5.1 and 13 ± 1.3 years, respectively, whereas as it was 23.5 ± 4.7 and 13.3 ± 1.2 years in sisters (n = 22, respectively. Metabolic syndrome (MS defined by International Diabetes Federation (IDF criteria was present in 10 index patients, 1 brother, 4 sisters, 17 mothers and 15 fathers while as by Adult Treatment Panel III (ATP III it was in 8 index patients, 5 sisters, 16 mothers and 11 fathers. Conclusion: The presence of MS or related metabolic derangements is high in the family members of women with PCOS.

Pubertal timing and substance use: associations between and within families across late adolescence.

Science.gov (United States)

Dick, D M; Rose, R J; Viken, R J; Kaprio, J

2000-03-01

In the present study, between-family analyses of data from adolescent twin girls offer new evidence that early menarche is associated with earlier initiation and greater frequency of smoking and drinking. The role of personality factors and peer relationships in that association was investigated, and little support was found for their involvement. Novel within-family analyses replicating associations of substance use with pubertal timing in contrasts of twin sisters selected for extreme discordance for age at menarche are reported. Within-family replications demonstrated that the association of pubertal timing with substance use cannot be explained solely by between-family confounds. Within-family analyses demonstrated contextual modulation of the influence of pubertal timing: Its impact on drinking frequency is apparent only among girls in urban settings. Sibling comparisons illustrate a promising analytic tool for studying diverse developmental outcomes.

Arts, Crafts, and Rural Rehabilitation: the Sisters of Charity, Halifax, and Vocational Education in Terence Bay, Nova Scotia, 1938-1942

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Sasha MULLALLY

2018-01-01

Full Text Available Responding to rural poverty associated with the declining fishery, the rise of industrial capitalism, and the impact of the Great Depression, the Sisters of Charity, Halifax, implemented a vocational training program in weaving and carpentry in the small community of Terence Bay, Nova Scotia in 1938. Senator William Dennis, a proponent of the New Democracy Movement, financed the program. Because the Sisters based their claims to success on observed behavioural changes among the residents of Terence Bay, the program can be seen as an example of liberal therapeutics in education, a model that placed emphasis on achieving social goals rather than transferring discrete skills and capacities to pupils. Focusing on the years 1938-43, this paper outlines the rehabilitation efforts at Terence Bay, describes the programs the Sisters implemented, and evaluates the definitions of success ascribed to their training school just a few years later.

[Cerebral and ocular abnormalities with anterior pituitary insufficiency of familial nature].

Science.gov (United States)

Weill, J; Boudailliez, B; Piussan, C; Ponte, C

1985-01-01

Three families presenting one or several cases of brain or ophthalmic abnormalities and an hypopituitarism at least by one of the members have been observed. In the first family, the mother and one of her sons present bilateral choroidoretineal coloboma with amblyopia; one of these two suffers as well from panhypopituitarism. In the second family two premature twins, a brother and his sister, present a syndrome with hypophyseal dwarfism and ophthalmic abnormalities, consisting in the boy's case in an peripapillary depigmentation with no visible sight trouble whereas girl's is showing an extreme microphthalmia with major mental retardation. In the third family two 2nd degree cousins present a panhypopituitarism but only one of the two reveals through neuroradiological investigations corpus callosum and septum lucidum agenesia. The karyotype is normal in all the cases. An hereditary mechanism appears clearly in the first family. It is possible in the second, probable in the third one.

Family Analysis of Immunoglobulin Classes and Subclasses in Children with Autistic Disorder

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Mirko Spiroski

2009-11-01

Full Text Available Autistic disorder is a severe neurodevelopment disorder characterized by a triad of impairments in reciprocal social interaction, verbal and nonverbal communication, and a pattern of repetitive stereotyped activities, behaviours and interests. There are strong lines of evidence to suggest that the immune system plays an important role in the pathogenesis of autistic disorder. The aim of this study was to analyze quantitative plasma concentration of immunoglobulin classes, and subclasses in autistic patients and their families. The investigation was performed retrospectively in 50 persons with autistic disorder in the Republic of Macedonia. Infantile autistic disorder was diagnosed by DSM-IV and ICD-10 criteria. Plasma immunoglobulin classes (IgM, IgA, and IgG and subclasses (IgG1, IgG2, IgG3, and IgG4 were determined using Nephelometer Analyzer BN-100. Multiple comparisons for the IgA variable have shown statistically significant differences between three pairs: male autistic from the fathers (p = 0,001, female autistic from the mothers (p = 0,008, as well as healthy sisters from the fathers (p = 0,011. Statistically significant differences found between three groups regarding autistic disorder (person with autistic disorder, father/mother of a person with autistic disorder, and brother/sister independent of sex belongs to IgA, IgG2, and IgG3 variables. Multiple comparisons for the IgA variable have shown statistically significant differences between children with autistic disorder from the fathers and mothers (p < 0,001, and healthy brothers and sisters from the fathers and mothers (p < 0,001. Comparison between healthy children and children with autistic disorder from the same family should be tested for immunoglobulin classes and subclasses in order to avoid differences between generations.

Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance

NARCIS (Netherlands)

V.C. Seitan (Vlad); P.A. Banks (Peter); S. Laval (Steve); N.A. Majid (Nazia); D. Dorsett (Dale); A. Rana (Amer); J. Smith (Jeremy); A. Bateman (Alex); S. Krpic (Sanja); A. Hostert (Arnd); S.M. Rollins; H. Erdjument-Bromage (Hediye); P. Tempst (Paul); C.Y. Benard (Claire); S. Hekimi (Siegfried); S.F. Newbury (Sarah); T. Strachan (Tom)

2006-01-01

textabstractSaccharomyces cerevisiae Scc2 binds Scc4 to form an essential complex that loads cohesin onto chromosomes. The prevalence of Scc2 orthologs in eukaryotes emphasizes a conserved role in regulating sister chromatid cohesion, but homologs of Scc4 have not hitherto been identified outside

Familial pseudoxanthoma elasticum associated with multiple comedones.

Science.gov (United States)

Maarouf, Melody; Sharon, Victoria R; Sivamani, Raja K; Prakash, Neha; Bipin, T H; Davis, Tracy; Shi, Vivian Y

2017-09-15

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic cutaneous findings of PXE with the additional unusual findings of numerous open comedones on the neck. To our knowledge, this is the first report of numerous open comedones in familial PXE.

Photoreactivation of ultraviolet light-induced sister chromatid exchanges in potorous cells

International Nuclear Information System (INIS)

Ishizaki, K.; Nikaido, O.; Takebe, H.

1980-01-01

Exposure to visible light after UV-irradiation showed a remarkable effect on UV-induced sister chromatid exchanges (SCEs). After 6-h exposure to visible light (3 x 10 5 J/m 2 ), two-thirds of the UV-induced SCEs were prevented, confirming Kato's findings. (Nature 249, 552-3, 1974) Exposure to visible light before UV irradiation had no effect. This effect of visible light on UV-induced CSEs was temperature dependent, suggesting the presence of enzymatic photoreactivation. (author)

Frequency of sister chromatid exchanges in lymphocyte cultures of human peripheral blood after the combined effect of γ-radiation and caffeine

International Nuclear Information System (INIS)

Nugis, V.Yu.; Pyatkin, E.K.

1986-01-01

Keeping of human peripheral blood lymphocytes, irradiated in vitro with 60 Co-γ-quanta at a dose of 3 Gy at G 0 phase, with caffeine of 16 and 160 μg/ml during cultivation with PHA had no appreciable influence on the fraquency of sister chromatid exchanges. A minor increase in the number of sister chromatid exchanges was only noted when nonirradiated and irradiated lymphocytes were cultured with 160 μg/ml caffeine

Teaching Sisters and Transnational Networks: Recruitment and Education Expansion in the Long Nineteenth Century

Science.gov (United States)

Raftery, Deirdre

2015-01-01

This article examines the management of the education enterprise of teaching Sisters, with reference to their transnational networking. The article suggests that orders of women religious were the first all-female transnational networks, engaged constantly in work that was characterised by "movement, ebb and circulation". The mobility of…

Effects of Adolescent Childbearing on Latino Siblings: Changes in Family Dynamics and Feelings toward the Teen Mother

Science.gov (United States)

East, Patricia L.; Slonim, Ashley; Horn, Emily J.; Reyes, Barbara T.

2011-01-01

Latinos have had the highest teenage birthrate of any racial or ethnic group in the United States for the past 15 years, yet little is known about how Latino families are affected by a teenage daughter's childbearing. In-depth interviews were conducted with 32 Mexican American younger siblings of parenting teens to discern how their sister's…

Live and let die - the B(sister MADS-box gene OsMADS29 controls the degeneration of cells in maternal tissues during seed development of rice (Oryza sativa.

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Xuelian Yang

Full Text Available B(sister genes have been identified as the closest relatives of class B floral homeotic genes. Previous studies have shown that B(sister genes from eudicots are involved in cell differentiation during ovule and seed development. However, the complete function of B(sister genes in eudicots is masked by redundancy with other genes and little is known about the function of B(sister genes in monocots, and about the evolution of B(sister gene functions. Here we characterize OsMADS29, one of three MADS-box B(sister genes in rice. Our analyses show that OsMADS29 is expressed in female reproductive organs including the ovule, ovule vasculature, and the whole seed except for the outer layer cells of the pericarp. Knock-down of OsMADS29 by double-stranded RNA-mediated interference (RNAi results in shriveled and/or aborted seeds. Histological analyses of the abnormal seeds at 7 days after pollination (DAP indicate that the symplastic continuity, including the ovular vascular trace and the nucellar projection, which is the nutrient source for the filial tissue at early development stages, is affected. Moreover, degeneration of all the maternal tissues in the transgenic seeds, including the pericarp, ovular vascular trace, integuments, nucellar epidermis and nucellar projection, is blocked as compared to control plants. Our results suggest that OsMADS29 has important functions in seed development of rice by regulating cell degeneration of maternal tissues. Our findings provide important insights into the ancestral function of B(sister genes.

[Dwarfism due to familial panhypopituitarism].

Science.gov (United States)

Cos Welsh, J; Espinosa de los Monteros, A; de la Luz Ajuria, M; Morillo Almao, E

1977-01-01

Three sisters of 27 7/12, 13 8/12 and 9 1/12 years of age, respectively, with proportionate dwarfism, high pitched voice and lack of sexual development are described. All the patients had very low serum levels of immunoreactive growth hormone (GH), as well as of LH and FSH. Hypoglycemia induced by insulin and arginine infusion failed to increase GH levels, and the administration of the hypothalamic LH-FSH releasing hormone (LH-RH) did not elicit any response in the secretion of gonadotropins. The oldest sister developed hypothyroidism in recent years, since the I131 thyroid uptake was normal ten years before; her serum TSH was low and did not change with TRH stimulation. In addition, a low pituitary ACTH reserve was demonstrated by the hypoglycemia and metirapone tests. Case 2 showed partial pituitary TSH and ACTH reserve, whereas the youngest child only had low TSH pituitary reserve. These patients had all the clinical and laboratory characteristics of familial panhypopituitarism, with normal sella turcica. Genetic transmission in this cases is consistent with the autosomal recessive form, which is the most frequent type of inheritance of this entity. Consanguinity can not be ruled out. The results of the hypothalamic-pituitary functional tests apparently suggest that the primary defect could be located at the pituitary level. It is also possible that the pathological process may have a progressive evolution.

A Korean family with the Muenke syndrome.

Science.gov (United States)

Yu, Jae Eun; Park, Dong Ha; Yoon, Soo Han

2010-07-01

The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.

99mTc-DMSA Uptake in a Sister Mary Joseph's Nodule From Ovarian Cancer.

Science.gov (United States)

Naddaf, Sleiman; Azzumeea, Fahad; Fahad Alzayed, Mohammed

2016-12-01

A 50-year-old woman with ovarian cancer underwent Tc-DMSA scan to evaluate the functional status of the right hydronephrotic kidney. The images incidentally revealed a well-defined focus of mild radiotracer uptake at the midanterior abdominal wall, which correlated with a metastatic Sister Mary Joseph's nodule seen on CT performed a week earlier.

[Sense of coherence and ways of coping in the relationship with brother or sister in healthy siblings of mentally ill persons].

Science.gov (United States)

Osuchowska-Kościjańska, Anna; Charzyńska, Katarzyna; Chadzyńska, Małgorzata; Drozdzyńska, Anna; Kasperek-Zimowska, Beata; Bednarek, Agata; Sawicka, Maryla

2014-01-01

The aim of the present study was to investigate sense of coherence in healthy siblings of persons suffering from schizophrenia as well as their ways of coping in the relationship with ill brother or sister. 40 healthy brothers and sisters of persons with ICD- 10 diagnosis of F20 to F29 participated in the present study. Orientation to Life Scale (SOC- 29) was used to assess sense of coherence and Ways of Coping with Stress questionnaire (SRSS) was used to examine stress coping strategies. Mean global score of siblings of persons with schizophrenia was 111 points. Subjects used coping strategies focused on problem significantly more often than those focused on emotions. Therapeutic work with healthy siblings should focus on strengthening sense of personal competence, development of personal resources and different ways of coping with stress, investigation of emotions that healthy siblings experience in the relationship with ill brother or sister as well as supporting the process of accepting changes in the relationship with the ill sibling.

CLINICAL AND FAMILY PROFILE OF PATIENTS DIAGNOSED WITH KERATOCONUS

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Kalpana

2015-03-01

Full Text Available PURPOSE: To screen the first degree relatives of patient diagnosed with keratoconus . MATERIALS AND METHODS : All the patients included in the study, patient details were taken which included - name, age, gender, hospital number, address and family history [pedigree tree] . All the patients underwent refraction, best corrected visual acuity, colour vision , keratometry, intraocular pressure measurement and corneal topography [orbscan]. Family screening was done, which included - refraction, best corrected visual acuity, colour vision, keratometry, intraocular pressure and corneal topography [orbscan]. RESULTS: In this study of 40 eyes, 24 eyes [Right eyes - 12 & Left eyes - 12] i.e. 60% have keratoconus, 3 eyes [2 - Right eyes & 1 - Left eye] i.e.15% have advanced keratoconus, 12 eyes [Right eye - 6 & Left eye - 6] i.e. 30% have VKC & Keratoconus, 1 eye have acute hydrops. Total family members screened 55, out of that 17 members are fathers, 20 members are mothers, 12 members are brothers and 6 are sisters

On Brothers and Sisters: South Asian and Japanese Idea Systems and their Consequences

OpenAIRE

Lyon, Stephen M.

2017-01-01

The role expectations of cross siblings varies across culture. Such expectations, while not rigidly prescribing actual behaviors nevertheless influences relations between brothers and sisters in observable ways. In South Asia, a cultural rhetoric of sororal sacrifice and support coupled with fraternal protection are commonplace. While such noble sibling roles are regularly transgressed they remain powerful idioms of the relationship and transgressions require appropriate cultural justificatio...

Demographic change and marriage choices in one Carib family.

Science.gov (United States)

Adams, K

1994-03-01

The demographic adaptation of a family of Topside Caribs along the Barama River in Guyana was studied. The family history included two grandfather and granddaughter marriages. Jack Raymond's father, who was born in 1870, left Bottomside after the death of his wife in the 1920s and settled above the falls of the Barama River (Topside in Sawari) with the hope of subsistence living off the rain forest. Information on the grandfather generation was made difficult by name changes, general references to all men in the second generation as grandfathers, and the focus on father's and mother's generation. The typical pattern was for brothers to live close by, and intermarry with a family of sisters. Female children married mother's brothers' sons or father's sisters sons. Their children formed their own cluster settlements. The early history indicated economic hardship, loss of wives, and difficulties in remarrying. The Baird chronicles of the reintroduction of gold mining and the ethnography of Gillin indicated that malaria and round worm were diseases affecting the indigenous population during the 1920s and 1930s. The Topside population was supported by the local gold-mining economy, while the Bottomside population suffered economic hardship and high infant mortality. In the Jack Raymond family, remarriage resulted in children marrying cross cousins. The younger daughter married in the 1940s, when subsistence production of cassava and hunting and gold-mining income provided the family's livelihood. The daughter had 10 surviving children, compared to her adoptive mother's two. For the daughter's generation, the first pregnancy occurred between the ages of 18 and 22 years, and birth spacing was 20-30 months for 25 years. Neither polygyny nor monogamy affected the potential for 12 children. In this Baramita Air Strip population in 1971, there were 62 mothers; reproductive histories were available for 59. The changes in reproductive patterns after 1940 were apparent: for

Fragile X syndrome in females - a familial case report and review of the literature.

Science.gov (United States)

Stembalska, Agnieszka; Łaczmańska, Izabela; Gil, Justyna; Pesz, Karolina A

2016-01-01

Fragile X syndrome (FXS), one of the manifestations of FMR1-related disorders, is one of the most frequent genetic causes of intellectual disability. In over 99% of all cases it results from the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene and presents in males and in about 50% of the females with an FMR1 full mutation, usually with a milder phenotype. Although the morphologic and behavioral phenotype in males is a well-recognized entity, the presentation in females is variable and not as specific. The objective of this paper is to present a family with quite a severe expression of the disorder in two sisters with a full mutation. We report on a two-generation family where both males and females were found to be affected by FXS. We also present the diagnostic pathway and methods that led to the diagnosis of fragile X syndrome in the two sisters, as well as the method that explained the normal phenotype in their mother. The CGG repeats analysis in the FMR1 gene showed one normal allele and one allele with a full mutation in both sisters (probands) and their mother. A full mutation was also found in three male cousins of the probands. The analysis of the X-chromosome methylation status has shown a random X inactivation in proband 1 and 2 and a non-random one in the proband's mother, with the normal allele predominantly active. The reasons for different clinical presentations are discussed; moreover a review of the literature on females with FXS is presented. We hope that this paper will facilitate the future diagnosis of fragile X syndromes in females.

Mentoring in Schools: An Impact Study of Big Brothers Big Sisters School-Based Mentoring

Science.gov (United States)

Herrera, Carla; Grossman, Jean Baldwin; Kauh, Tina J.; McMaken, Jennifer

2011-01-01

This random assignment impact study of Big Brothers Big Sisters School-Based Mentoring involved 1,139 9- to 16-year-old students in 10 cities nationwide. Youth were randomly assigned to either a treatment group (receiving mentoring) or a control group (receiving no mentoring) and were followed for 1.5 school years. At the end of the first school…

Induction of sister chromatid exchange in the presence of gadolinium-DTPA and its reduction by dimethyl sulfoxide

International Nuclear Information System (INIS)

Yamazaki, Etsuo; Fukuda, Hozumi; Shibuya, Hitoshi; Matsubara, Sho

1996-01-01

The authors investigate the frequency of sister chromatid exchange (SCE) after the addition of gadolinium (Gd)-DTPA to venous blood samples. Venous blood was obtained from nonsmokers. Samples were incubated with Gd-DTPA alone or in combination with mitomycin C, cytarabine, and dimethyl sulfoxide (DMSO), and then evaluated for SCEs. The frequency of SCE increased with the concentration of Gd-DTPA and as each chemotherapeutic agent was added. Sister chromatid exchange frequencies were lower when the blood was treated with a combination of Gd-DTPA and DMSO compared with Gd-DTPA alone. The increase in frequency of SCE seen after the addition of Gd-DTPA was decreased by the addition of DMSO, indicating the production of hydroxyl radicals. The effect likely is dissociation-related. 14 refs., 6 tabs

Familial disseminated cutaneous glomuvenous malformation: Treatment with polidocanol sclerotherapy

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Aditi Jha

2016-01-01

Full Text Available Glomuvenous malformations (GVMs present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10-15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size from 1 to 3 cm, partially to non-compressible and tender on palpation. There was no history of any systemic complaint. His sister and mother had similar lesions but in a limited distribution. Biopsy showed multiple ectatic dilated vascular channels lined by multiple layers of glomus cells consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting. He underwent sclerotherapy with 3% polidocanol every 2 weeks, and there was significant improvement in the lesions after six sessions of sclerotherapy. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months.

Patterns and processes in the evolutionary history of parrotfishes (Family Labridae)

KAUST Repository

Choat, John. H.; klanten, Oya. S.; Van Herwerden, Lynne; Robertson, D. Ross; Clements, Kendall D.

2012-01-01

Phylogenetic reconstruction of the evolutionary relationships among 61 of the 70 species of the parrotfish genera Chlorurus and Scarus (Family Labridae) based on mitochondrial and nuclear gene sequences retrieved 15 well-supported clades with mid Pliocene/Pleistocene diversification. Twenty-two reciprocally monophyletic sister-species pairs were identified: 64% were allopatric, and the remainder were sympatric. Age of divergence was similar for allopatric and sympatric species pairs. Sympatric sister pairs displayed greater divergence in morphology, ecology, and sexually dimorphic colour patterns than did allopatric pairs, suggesting that both genetic drift in allopatric species pairs and ecologically adaptive divergence between members of sympatric pairs have played a role in diversification. Basal species typically have small geographical ranges and are restricted to geographically and ecologically peripheral reef habitats. We found little evidence that a single dominant process has driven diversification, nor did we detect a pattern of discrete, sequential stages of diversification in relation to habitat, ecology, and reproductive biology. The evolution of Chlorurus and Scarus has been complex, involving a number of speciation processes. © 2012 The Linnean Society of London.

Patterns and processes in the evolutionary history of parrotfishes (Family Labridae)

KAUST Repository

Choat, John. H.

2012-09-05

Phylogenetic reconstruction of the evolutionary relationships among 61 of the 70 species of the parrotfish genera Chlorurus and Scarus (Family Labridae) based on mitochondrial and nuclear gene sequences retrieved 15 well-supported clades with mid Pliocene/Pleistocene diversification. Twenty-two reciprocally monophyletic sister-species pairs were identified: 64% were allopatric, and the remainder were sympatric. Age of divergence was similar for allopatric and sympatric species pairs. Sympatric sister pairs displayed greater divergence in morphology, ecology, and sexually dimorphic colour patterns than did allopatric pairs, suggesting that both genetic drift in allopatric species pairs and ecologically adaptive divergence between members of sympatric pairs have played a role in diversification. Basal species typically have small geographical ranges and are restricted to geographically and ecologically peripheral reef habitats. We found little evidence that a single dominant process has driven diversification, nor did we detect a pattern of discrete, sequential stages of diversification in relation to habitat, ecology, and reproductive biology. The evolution of Chlorurus and Scarus has been complex, involving a number of speciation processes. © 2012 The Linnean Society of London.

Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family

International Nuclear Information System (INIS)

Ahmed, Fathelrahman E.; AlBakrah, Mohameed S.

2009-01-01

The occurrence of autoimmune hemolytic anemia and immune thrombocytopenia in the absence of a known underlying cause led to the diagnosis of Evans syndrome in a 9 month old male. Subsequently, a similar diagnosis was made in two siblings (a 3 year old boy and a 1 day old girl). The 9 month old had a chronic course with exacerbations. He was treated with steroids, intravenous immunoglobulin and colchiccine with a variable response. He died of congestive heart failure at the age of 8 years. The brother's disease course was one of remission and exacerbation. With time, remissions were prolonged and paralleled an improvement in joint hypermobility. The sister died of sepsis after a chronic course with severe exacerbattions. Only two families with Evans syndrome have been reported in the English medical literature. In one report (in a Saudi Arab family), the disease was associated with hereditary spastic paraplegia. (author)

Getting SaaS-y. Why the sisters of Mercy Health System opted for on-demand portfolio management.

Science.gov (United States)

Carter, Jay

2011-03-01

Sisters of Mercy Health System chose the SaaS model as a simpler way to plan, execute, and monitor strategic business initiatives. It also provided something that was easy to use and offered quick time to value.

Linking Shorebird Conservation and Education Along Flyways: An Overview of the Shorebird Sister Schools Program

Science.gov (United States)

Hillary Chapman; Heather Johnson

2005-01-01

The Shorebird Sister Schools Program (SSSP) is an internet-based environmental education program that provides a forum for students, biologists, and shorebird enthusiasts to track shorebird migration and share observations along flyways. The program?s vision is to engage public participation in the conservation of shorebirds and their wetland, grassland, and shoreline...

Ter um irmão especial: convivendo com a Síndrome de Down Having a special brother/sister: living together with the Down Syndrome

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Eucia Beatriz Lopes Petean

2005-12-01

Full Text Available O presente estudo teve por objetivos conhecer como é a relação entre irmãos mais velhos de pessoas com diagnóstico de Síndrome de Down (SD; que informações e sentimentos possuem sobre o diagnóstico; se houve ou não modificações na dinâmica familiar e em suas próprias vidas. Foram entrevistadas 11 pessoas, de ambos os sexos, com idade superior a dez anos, sendo, cada uma, o irmão mais velho de criança com diagnóstico de SD, sendo realizada análise quantitativa de dados da amostra e análise quantitativa-interpretativa e qualitativa para os dados da entrevista. Os dados mostram que a maioria dos sujeitos (90,9% sabe o nome da Síndrome e foram informados pela mãe logo após o nascimento do irmão, seis deles consideram que reagiram normalmente à notícia. Quanto às responsabilidades adquiridas, a maioria, 90,9%, são responsáveis pelas atividades de vida diária; 27,27% deles consideram que houve acréscimo de responsabilidade em suas vidas em decorrência do nascimento do irmão com SD. Em relação ao sentimento que apresentam por terem um irmão especial, 54,54% consideram como positivo, ou seja, disseram que também sentem-se especiais. Na falta (morte dos pais, a metade dos participantes informa que eles serão os responsáveis legais deste irmão. Pode-se concluir que o nascimento de um irmão com SD tem conseqüências na rotina de vida dos irmãos mais velhos, trazendo modificações e responsabilidades para eles. Entretanto, parece ter um efeito menos dirigido para a desestrutura psicológica, sendo poucas as manifestações de sentimentos extremos, ficando apenas no nível da tristeza, quando são expressos.The present study intended to know about the relation among older brothers/sisters of people with a diagnosis of Down Syndrome (DS, regarding to information and feelings they have about this diagnosis, and if changes have occurred within family dynamics and their own lives. Eleven people were interviewed, from

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

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Claudia Cervera-Martinez

2018-05-01

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

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

Science.gov (United States)

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

1978-01-01

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

Gender Gaps in the Effects of Childhood Family Environment: Do They Persist into Adulthood?

DEFF Research Database (Denmark)

Brenøe, Anne Ardila

2017-01-01

We examine the differential effects of family disadvantage on the education and adult labor market outcomes of men and women using high-quality administrative data on the entire population of Denmark born between 1966 and 1995. We link parental education and family structure during childhood...... to male–female and brother–sister differences in adolescent outcomes, educational attainment, and adult earnings and employment. Our results are consistent with U.S. findings that boys benefit more from an advantageous family environment than do girls in terms of grade-school outcomes. Father’s education......, which has not been examined in previous studies, is particularly important for sons. However, we find a very different pattern of parental influence on adult outcomes. Gender gaps in educational attainment, employment, and earnings are increasing in maternal education, benefiting daughters. Paternal...

UBL5 is essential for pre-mRNA splicing and sister chromatid cohesion in human cells

DEFF Research Database (Denmark)

Oka, Yasuyoshi; Varmark, Hanne; Vitting-Seerup, Kristoffer

2014-01-01

UBL5 is an atypical ubiquitin-like protein, whose function in metazoans remains largely unexplored. We show that UBL5 is required for sister chromatid cohesion maintenance in human cells. UBL5 primarily associates with spliceosomal proteins, and UBL5 depletion decreases pre-mRNA splicing efficien...

'For Good, God, and the Empire': French Franciscan Sisters in Ethiopia 1896-1937

Science.gov (United States)

Guidi, Pierre

2018-01-01

In 1897, four French Franciscan sisters arrived in Ethiopia, having been summoned there by the Capuchin missionaries. In 1925, they ran an orphanage, a dispensary, a leper colony and 10 schools with 350 girl students. The students were freed slaves, orphans and upper-class Ethiopian and European girls. After providing a brief background to the…

Diversification, evolution and sub-functionalization of 70kDa heat-shock proteins in two sister species of antarctic krill: differences in thermal habitats, responses and implications under climate change.

Science.gov (United States)

Cascella, Kévin; Jollivet, Didier; Papot, Claire; Léger, Nelly; Corre, Erwan; Ravaux, Juliette; Clark, Melody S; Toullec, Jean-Yves

2015-01-01

A comparative thermal tolerance study was undertaken on two sister species of Euphausiids (Antarctic krills) Euphausia superba and Euphausia crystallorophias. Both are essential components of the Southern Ocean ecosystem, but occupy distinct environmental geographical locations with slightly different temperature regimes. They therefore provide a useful model system for the investigation of adaptations to thermal tolerance. Initial CTmax studies showed that E. superba was slightly more thermotolerant than E. crystallorophias. Five Hsp70 mRNAs were characterized from the RNAseq data of both species and subsequent expression kinetics studies revealed notable differences in induction of each of the 5 orthologues between the two species, with E. crystallorophias reacting more rapidly than E. superba. Furthermore, analyses conducted to estimate the evolutionary rates and selection strengths acting on each gene tended to support the hypothesis that diversifying selection has contributed to the diversification of this gene family, and led to the selective relaxation on the inducible C form with its possible loss of function in the two krill species. The sensitivity of the epipelagic species E. crystallorophias to temperature variations and/or its adaptation to cold is enhanced when compared with its sister species, E. superba. These results indicate that ice krill could be the first of the two species to be impacted by the warming of coastal waters of the Austral ocean in the coming years due to climate change.

Absence of SUN-domain protein Slp1 blocks karyogamy and switches meiotic recombination and synapsis from homologs to sister chromatids

Science.gov (United States)

Vasnier, Christelle; de Muyt, Arnaud; Zhang, Liangran; Tessé, Sophie; Kleckner, Nancy E.; Zickler, Denise; Espagne, Eric

2014-01-01

Karyogamy, the process of nuclear fusion is required for two haploid gamete nuclei to form a zygote. Also, in haplobiontic organisms, karyogamy is required to produce the diploid nucleus/cell that then enters meiosis. We identify sun like protein 1 (Slp1), member of the mid–Sad1p, UNC-84–domain ubiquitous family, as essential for karyogamy in the filamentous fungus Sordaria macrospora, thus uncovering a new function for this protein family. Slp1 is required at the last step, nuclear fusion, not for earlier events including nuclear movements, recognition, and juxtaposition. Correspondingly, like other family members, Slp1 localizes to the endoplasmic reticulum and also to its extensions comprising the nuclear envelope. Remarkably, despite the absence of nuclear fusion in the slp1 null mutant, meiosis proceeds efficiently in the two haploid “twin” nuclei, by the same program and timing as in diploid nuclei with a single dramatic exception: the normal prophase program of recombination and synapsis between homologous chromosomes, including loading of recombination and synaptonemal complex proteins, occurs instead between sister chromatids. Moreover, the numbers of recombination-initiating double-strand breaks (DSBs) and ensuing recombinational interactions, including foci of the essential crossover factor Homo sapiens enhancer of invasion 10 (Hei10), occur at half the diploid level in each haploid nucleus, implying per-chromosome specification of DSB formation. Further, the distribution of Hei10 foci shows interference like in diploid meiosis. Centromere and spindle dynamics, however, still occur in the diploid mode during the two meiotic divisions. These observations imply that the prophase program senses absence of karyogamy and/or absence of a homolog partner and adjusts the interchromosomal interaction program accordingly. PMID:25210014

Isolated familial somatotropinomas: clinical features and analysis of the MEN1 gene.

Science.gov (United States)

De Menis, Ernesto; Prezant, Toni R

2002-01-01

Isolated familial somatotropinomas (IFS) rarely occurs in the absence of multiple endocrine neoplasia type I (MEN1) or the Carney complex. In the present study we report two Italian siblings affected by GH-secreting adenomas. There was no history of parental consanguinity. The sister presented at 18 years of age with secondary amenorrhea and acromegalic features and one of her two brothers presented with gigantism at the same age. Endocrinological investigations confirmed GH hypersecretion in both cases. Although a pituitary microadenoma was detected in both patients, transsphenoidal surgery was not successful. The sister received conventional radiotherapy and acromegaly is now considered controlled; the brother is being treated with octreotide LAR 30 mg monthly and the disease is considered clinically active. Patients, their parents and the unaffected brother underwent extensive evaluation, and no features of MEN1 or Carney complex were found. Analysis of polymorphic microsatellite markers from chromosome 11q13 (D11S599, D11S4945, D11S4939, D11S4938 and D11S987) showed that the acromegalic siblings had inherited different maternal chromosomes and shared the paternal chromosome. No pathogenic MEN1 sequence changes were detected by sequencing or dideoxy fingerprinting of the coding sequence (exons 2-10) and exon/intron junctions. Although mutations in the promoter, introns or untranslated regions of the MEN1 gene cannot be excluded, germline mutations within the coding region of this gene do not appear responsible for IFS in this family.

A proposal of a standardised nomenclature for terminal minute sister chromatid exchanges

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Máximo E. Drets

2006-01-01

Full Text Available We described spontaneous minute sister chromatid exchanges (SCE in telomeric regions of human and Chinese hamster ovary (CHO chromosomes more than 10 years ago. These structures, which we called t-SCE, were detected by means of highly precise quantitative microphotometrical scanning and computer graphic image analysis. Recently, several authors using the CO-FISH method also found small SCEs in telomeric regions and called them T-SCE. The use of different terms for designating the same phenomenon should be avoided. We propose ter SCE as a uniform nomenclature for minute telomeric SCEs.

Family planning education helps build self-esteem.

Science.gov (United States)

Choudhary, P

1993-10-01

I got married at the age of 20. In our community, generally girls are married off at 15 or 16, but my marriage was delayed according to my father's and my wishes. I did not desire to have my first child immediately. My husband and I are very young and I did not want to assume maternal responsibilities so early in life. Picking up courage, I spoke to my husband. On learning that he had similar views, I was very relieved. I belong to a middle-class family. Due to an absence of a high school in the village. I was forced to drop out of school. Young girls in our community are not allowed to move freely within the village, much less the outside world. But when I was 19, I got the opportunity to gain a lot of information on family planning, health, personal hygiene and good nutrition as part of the Better Life Project. I also learned beauty skills, embroidery, knitting and video film-making. Often I share the information and skills I learned with others. I have even advised my brother's wives about proper child care and immunization. Now that I have a good relationship with the unmarried sister of my husband, I sometimes tell her whatever I have learned. I have felt a great change in myself. My earlier inhibitions in talking to people have dropped, and I can entertain and speak freely with guests who come home. I am more confident about traveling outside my village to other places alone or with company. Learning to operate a video camera and producing a film was my favorite experience. I discovered that I can do what is normally said to be the work of boys only. Sometimes I think that if I had not learned new skills, I would not have been able to share my feelings about family planning with my husband. My mother-in-law is also agreeable to our decision about waiting to have children because both my brothers-in-law have large families. However, I have to face my sisters-in-law who taunt me about my childless status. The problem now is that my husband is not satisfied

77 FR 48993 - Proposed Collection; Comment Request; The Sister Study: A Prospective Study of the Genetic and...

Science.gov (United States)

2012-08-15

... Genetic and Environmental Risk Factors for Breast Cancer SUMMARY: In compliance with the requirement of... proposed data collection projects, the National Institute of Environmental Health Sciences (NIEHS), the... Sister Study: A Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer. Type...

A Severe Case of Pigmentary Glaucoma in a Child With a Family History of Pigment Dispersion Syndrome.

Science.gov (United States)

Aragno, Vittoria; Zeboulon, Pierre; Baudouin, Christophe; Labbé, Antoine

2016-08-01

To report a case of severe pigmentary glaucoma (PG) in a 13-year-old boy of a family affected by pigment dispersion syndrome (PDS). A 13-year-old child was referred to our hospital for severe bilateral glaucoma. A complete ophthalmologic evaluation including refraction, intraocular pressure, central corneal thickness, slit-lamp biomicroscopy, gonioscopy, fundus examination, and ultrasound biomicroscopy was performed. Family members were also examined and a family pedigree was obtained. Ophthalmologic examination revealed a severe bilateral PG with Krukenberg spindle and a widely open heavily pigmented iridocorneal angle. Ultrasound biomicroscopy showed a deep anterior chamber with pronounced iris concavity in both eyes. Within his family, his 15-year-old sister and 7-year-old brother were both affected by PDS diagnosed on gonioscopy findings. We report for the first time a severe case of pediatric PG with a family history of PDS. This case demonstrates that accurate screening is necessary in cases of familial PDS and PG, even in the pediatric population.

Differences in mycorrhizal communities between Epipactis palustris, E. helleborine and its presumed sister species E. neerlandica

OpenAIRE

Jacquemyn, Hans; Waud, Michael; Lievens, Bart; Brys, Rein

2016-01-01

Background and Aims In orchid species that have populations occurring in strongly contrasting habitats, mycorrhizal divergence and other habitat-specific adaptations may lead to the formation of reproductively isolated taxa and ultimately to species formation. However, little is known about the mycorrhizal communities associated with recently diverged sister taxa that occupy different habitats.

Mercury poisoning in two 13-year-old twin sisters

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Ezzat Khodashenas

2015-01-01

Full Text Available Mercury (Hg is a toxic agent that evaporates in room temperature and its inhalation may cause poisoning. Due to the nonspecific symptoms, diagnosis is difficult in special circumstances with no initial history of Hg exposure. We report two such cases of Hg poisoning. The patients were two sisters, presenting with pain in extremities, itchy rashes, sweating, salivation, weakness, and mood changes. They have used a compound that contains mercury, for treatment of pedicullosis three months before admission. This compound was purchased from a herbal shop and was applied locally on the scalps for 2 days. Their urinary mercury concentrations were 50 and 70 mg/L. They were successfully treated by D-penicillamine and gabapentin. In a patient with any kind of bone and joint pain, skin rash erythema and peripheral neuropathy, mercury poisoning should be considered as a differential diagnosis.

Pattern of family history in stone patients.

Science.gov (United States)

Marickar, Y M Fazil; Salim, Abiya; Vijay, Adarsh

2009-12-01

Genetic predisposition to urolithiasis is a much discussed topic. The objective of this paper is to identify the types of family members of proved urinary stone patients, who have a history of urinary stone formation. The study population consisted of 2,157 urinary stone patients interviewed in 2003-2007 in the urinary stone clinic. Family members with stone history were classified as group 1--first order single (one person in the immediate family-father, mother, siblings, or children), group 2--first order multiple (more than one member in the above group), group 3--second order single (one person in the blood relatives in family--grandparents, grandchildren, uncles, aunts, cousins, etc.) and group 4--second order multiple (more than one member in the above group). Of the 2,157 patients studied, 349 patients gave positive history of stone disease constituting 16.18%. Of these, 321 were males and 28 were females. Subdivision of the family members showed that 282 patients (80.80%) had single family member with stones and the rest 67 (19.20%) had multiple family members with history of stone disease. Group 1 which constituted one family member in the immediate family had 255 involvements (father: 88, mother: 16, brother: 135, sister: 2, son: 10, and daughter: 4); Group 2 with multiple members in the immediate family constituted 51 relatives; of these, father and brother combination was the most common with 35 occurrences. Group 3 with one person in the distant relatives in family namely grandparents, grand children, uncles, aunts, cousins, etc. constituted 27 occurrences and Group 4 with more than one member in the distant family constituted 16 occurrences. It is concluded that single family member involvement was more than multiple involvements. Males predominated. Stone occurrence was more in the immediate family members than distant relatives. Brothers formed the most common group to be involved with stone disease. Study of stone risk in the family members should

Historical biogeography and diversification of truffles in the Tuberaceae and their newly identified Southern hemisphere sister lineage

Science.gov (United States)

Gregory Bonito; Matthew E. Smith; Michael Nowak; Rosanne A. Healy; Gonzalo Guevara; Efren Cazares; Akihiko Kinoshita; Eduardo R. Nouhra; Laura S. Dominguez; Leho Tedersoo; Claude Murat; Yun Wang; Baldomero Arroyo Moreno; Donald H. Pfister; Kazuhide Nara; Alessandra Zambonelli; James M. Trappe; Rytas. Vilgalys

2013-01-01

In this study we reassessed the biogeography and origin of the Tuberaceae and their relatives using multiple loci and a global sampling of taxa. Multiple independent transitions from an aboveground to a belowground truffie fruiting body form have occurred in the Tuberaceae and in its newly recognized sister lineage...

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

Science.gov (United States)

Criscione, Francesco; Ponder, Winston Frank

2013-03-01

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

Posttraumatic stress disorder (PTSD) symptoms in PTSD patients' families of origin.

Science.gov (United States)

Watson, C G; Anderson, P E; Gearhart, L P

1995-10-01

Posttraumatic stress disorder (PTSD) patients, psychiatric controls, and hospital employee controls rated their father, mother, and oldest sibling of each sex on 14 PTSD Interview (PTSD-I) symptom ratings. The stress disorder patients assigned their relatives significantly higher PTSD-I ratings than the control group members did in 35 of 120 comparisons. The number of significant differences was nearly identical in the fathers, mothers, sisters, and brothers. Differences were particularly frequent on items pertaining to intrusive thoughts, impoverished relationships, and guilt. The results suggest that a trauma survivor's risk for PTSD may be related to his family's history for PTSD-like behaviors.

Chiasmata promote monopolar attachment of sister chromatids and their co-segregation toward the proper pole during meiosis I.

Directory of Open Access Journals (Sweden)

Yukinobu Hirose

2011-03-01

Full Text Available The chiasma is a structure that forms between a pair of homologous chromosomes by crossover recombination and physically links the homologous chromosomes during meiosis. Chiasmata are essential for the attachment of the homologous chromosomes to opposite spindle poles (bipolar attachment and their subsequent segregation to the opposite poles during meiosis I. However, the overall function of chiasmata during meiosis is not fully understood. Here, we show that chiasmata also play a crucial role in the attachment of sister chromatids to the same spindle pole and in their co-segregation during meiosis I in fission yeast. Analysis of cells lacking chiasmata and the cohesin protector Sgo1 showed that loss of chiasmata causes frequent bipolar attachment of sister chromatids during anaphase. Furthermore, high time-resolution analysis of centromere dynamics in various types of chiasmate and achiasmate cells, including those lacking the DNA replication checkpoint factor Mrc1 or the meiotic centromere protein Moa1, showed the following three outcomes: (i during the pre-anaphase stage, the bipolar attachment of sister chromatids occurs irrespective of chiasma formation; (ii the chiasma contributes to the elimination of the pre-anaphase bipolar attachment; and (iii when the bipolar attachment remains during anaphase, the chiasmata generate a bias toward the proper pole during poleward chromosome pulling that results in appropriate chromosome segregation. Based on these results, we propose that chiasmata play a pivotal role in the selection of proper attachments and provide a backup mechanism that promotes correct chromosome segregation when improper attachments remain during anaphase I.

Mutagen-induced sister chromatid exchanges in xeroderma pigmentosum and normal lymphocytes

International Nuclear Information System (INIS)

Perry, P.E.; Jager, M.; Evans, H.J.

1978-01-01

The induction of sister chromatid exchanges (SCE), by ultra-violet irradiation and by three chemical mutagens that differ in the type of repair response that they elicit, has been compared in lymphocytes from a control and from an individual suffering from the DNA excision repair deficiency syndrome, xeroderma pigmentosum (XP). The XP lymphocytes were found to be more sensitive in terms of SCE response, not only to UV irradiation, but also to all of the chemicals studied. The results indicate that the abnormality of DNA repair in this XP patient is expressed not only in the defective excision of thymine dimers, or other UV photoproducts, but also in a reduced ability to repair other types of DNA lesion. (author)

Interview: Tatyana Lipovskaya, Sisters Sexual Assault Recovery Centre, Moscow, Russia.

Science.gov (United States)

1998-11-01

The Sisters' Sexual Assault Recovery Center was established in Moscow, Russia, in 1993, to address the needs of victims of sexual violence. The Center's help-line received 4029 crisis calls in 1994-97. Most clients are seeking information about medical services or legal aid. Others call about employment, HIV/AIDS, alcoholism, and drug abuse. Services are available without regard to age, sex, occupation, or sexual orientation. Program funding has come entirely from Western foundations and organizations. Although Russia has not passed a law on domestic violence, the post-Communism government is reluctantly starting to acknowledge that rape and domestic violence are serious social problems. The Center runs an educational program for law enforcement officers to increase their sensitivity and create an environment of safety for women who report sexual violence.

Family analysis of immunoglobulin classes and subclasses in children with autistic disorder.

Science.gov (United States)

Spiroski, Mirko; Trajkovski, Vladimir; Trajkov, Dejan; Petlichkovski, Aleksandar; Efinska-Mladenovska, Olivija; Hristomanova, Slavica; Djulejic, Eli; Paneva, Meri; Bozhikov, Jadranka

2009-11-01

Autistic disorder is a severe neurodevelopment disorder characterized by a triad of impairments in reciprocal social interaction, verbal and nonverbal communication, and a pattern of repetitive stereotyped activities, behaviours and interests. There are strong lines of evidence to suggest that the immune system plays an important role in the pathogenesis of autistic disorder. The aim of this study was to analyze quantitative plasma concentration of immunoglobulin classes, and subclasses in autistic patients and their families. The investigation was performed retrospectively in 50 persons with autistic disorder in the Republic of Macedonia. Infantile autistic disorder was diagnosed by DSM-IV and ICD-10 criteria. Plasma immunoglobulin classes (IgM, IgA, and IgG) and subclasses (IgG1, IgG2, IgG3, and IgG4) were determined using Nephelometer Analyzer BN-100. Multiple comparisons for the IgA variable have shown statistically significant differences between three pairs: male autistic from the fathers (p = 0,001), female autistic from the mothers (p = 0,008), as well as healthy sisters from the fathers (p = 0,011). Statistically significant differences found between three groups regarding autistic disorder (person with autistic disorder, father/mother of a person with autistic disorder, and brother/sister) independent of sex belongs to IgA, IgG2, and IgG3 variables. Multiple comparisons for the IgA variable have shown statistically significant differences between children with autistic disorder from the fathers and mothers (p autistic disorder from the same family should be tested for immunoglobulin classes and subclasses in order to avoid differences between generations.

The Influence of Gender, Age, Psychological Resilience and Family Interaction Factors upon Anxiety and Depression in Non-Autism Spectrum Disorder Siblings of Children with an Autism Spectrum Disorder

Science.gov (United States)

Bitsika, Vicki; Sharpley, Christopher F.; Mailli, Rebecca

2015-01-01

The influence of gender, age, Psychological resilience and family interaction factors upon generalised anxiety disorder (GAD) and major depressive disorder (MDD) was investigated in 75 non-autism spectrum disorder (NASD) siblings who had a brother or sister with an autism spectrum disorder (ASD). GAD and MDD were much more prevalent than in…

Child, parent and family factors as predictors of adjustment for siblings of children with a disability.

Science.gov (United States)

Giallo, R; Gavidia-Payne, S

2006-12-01

Siblings adjust to having a brother or sister with a disability in diverse ways. This study investigated a range of child, parent and family factors as predictors of sibling adjustment outcomes. Forty-nine siblings (aged 7-16 years) and parents provided information about (1) sibling daily hassles and uplifts; (2) sibling coping; (3) parent stress; (4) parenting; and (5) family resilience. Multiple regression techniques were used. It was found that parent and family factors were stronger predictors of sibling adjustment difficulties than siblings' own experiences of stress and coping. Specifically, socio-economic status, past attendance at a sibling support group, parent stress, family time and routines, family problem-solving and communication, and family hardiness-predicted sibling adjustment difficulties. Finally, siblings' perceived intensity of daily uplifts significantly predicted sibling prosocial behaviour. The results revealed that the family level of risk and resilience factors were better predictors of sibling adjustment than siblings' own experiences of stress and coping resources, highlighting the importance of familial and parental contributions to the sibling adjustment process. The implications of these results for the design of interventions and supports for siblings are discussed.

Basalt Weathering in a Cold and Icy Climate: Three Sisters, Oregon as an Analog for Early Mars

Science.gov (United States)

Rampe, E. B.; Horgan, B.; Smith, R. J.; Scudder, N. A.; Rutledge, A. M.; Bamber, E.; Morris, R. V.

2017-01-01

There is abundant evidence for liquid water on early Mars, but the debate remains whether early Mars was warm and wet or cold and icy with punctuated periods of melting. To further investigate the hypothesis of a cold and icy early Mars, we collected rocks and sediments from the Collier and Diller glacial valleys in the Three Sisters volcanic complex in Oregon. We analyzed rocks and sediments with X-ray diffraction (XRD), scanning and transmission electron microscopies with energy dispersive spectroscopy (SEM, TEM, EDS), and visible, short-wave infrared (VSWIR) and thermal-IR (TIR) spectroscopies to characterize chemical weathering and sediment transport through the valleys. Here, we focus on the composition and mineralogy of the weathering products and how they compare to those identified on the martian surface. Phyllosilicates (smectite), zeolites, and poorly crystalline phases were discovered in pro- and supra-glacial sediments, whereas Si-rich regelation films were found on hand samples and boulders in the proglacial valleys. Most phyllosilicates and zeolites are likely detrital, originating from hydrothermally altered units on North Sister. TEM-EDS analyses of the flour samples demonstrate a variety of poorly crystalline (i.e., no long-range crystallographic order) phases: iron oxides, devitrified volcanic glass, and Fe-Si-Al phases. The CheMin XRD on the Curiosity rover in Gale crater has identified significant amounts of X-ray amorphous materials in all samples measured to date. The amorphous component is likely a combination of silicates, iron oxides, and sulfates. Although we have not yet observed amorphous sulfate in the samples from Three Sisters, the variety of poorly crystalline weathering products found at this site is consistent with the variable composition of the X-ray amorphous component identified by CheMin. We suggest that these amorphous phases on Mars could have formed in a similarly cold and icy environment.

EPRI/DOE High Burnup Fuel Sister Pin Test Plan Simplification and Visualization

Energy Technology Data Exchange (ETDEWEB)

Saltzstein, Sylvia J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Sorenson, Ken B. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Hanson, Brady [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Billone, Mike [Argonne National Lab. (ANL), Argonne, IL (United States); Scaglione, John [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Montgomery, Rose [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Bevard, Bruce [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States)

2017-07-01

The EPRI/DOE High Burnup Confirmatory Data Project (herein called the "Demo") is a multi-year, multi-entity confirmation demonstration test with the purpose of providing quantitative and qualitative data to show how high-burnup fuel ages in dry storage over a ten-year period. The Demo involves obtaining 32 assemblies of high-burnup PWR fuel of four common cladding alloys from the North Anna Nuclear Power Plant, drying them according to standard plant procedures, and then storing them in an NRC-licensed TN-3 2B cask on the North Anna dry storage pad for ten years. After the ten-year storage time, the cask will be opened and the rods will be examined for signs of aging. Twenty-five rods from assemblies of similar claddings, in-reactor placement, and burnup histories (herein called "sister rods") have been shipped from the North Anna Nuclear Power Plant and are currently being nondestructively tested at Oak Ridge National Laboratory. After the non-destructive testing has been completed for each of the twenty-five rods, destructive analysis will be performed at ORNL, PNNL, and ANL to obtain mechanical data. Opinions gathered from the expert interviews, ORNL and PNNL Sister Rod Test Plans, and numerous meetings has resulted in the Simplified Test Plan described in this document. Some of the opinions and discussions leading to the simplified test plan are included here. Detailed descriptions and background are in the ORNL and PNNL plans in the appendices . After the testing described in this simplified test plan h as been completed , the community will review all the collected data and determine if additional testing is needed.

Three Sisters Mountain Village development transformation of old coal mine properties into modern day use

International Nuclear Information System (INIS)

Fox, B.

2006-01-01

This paper discussed the development of the Three Sisters Mountain Village, located close to Canmore, Alberta. The paper provided the history and background of the mining and development of the site. It discussed underground mining methodology and planned housing and industrial development. The village included plans for 10,000 residential homes, 2 golf courses, a wellness centre, a school, commercial buildings and wildlife corridors. Environmental concerns were also addressed, as Canmore contains a series of natural wildlife corridors, which act as migration and travelling routes for elk and deer as well as cougars, grizzly bears, and other animals. These routes are essential for the survival of the different herds and animal species. The development progress strategy was discussed. The Three Sisters Mountain Village Development commissioned Golder Associates Ltd. to study and address the environmental concerns of the stakeholders regarding the migrating routes of wildlife. Mining works mitigation, including mapping of the constraint zones, knowledge of subsidence issues and the effects of subsidence on structural stress and the ability to analysis field data to predict potential problems was also presented along with a methodology for mitigation and choice of backfill material to be used to fill the mine workings. The advantages of using concrete paste backfill were also identified

Three Sisters Mountain Village development transformation of old coal mine properties into modern day use

Energy Technology Data Exchange (ETDEWEB)

Fox, B. [Golder Paste Technology Ltd., Sudbury, ON (Canada)

2006-07-01

This paper discussed the development of the Three Sisters Mountain Village, located close to Canmore, Alberta. The paper provided the history and background of the mining and development of the site. It discussed underground mining methodology and planned housing and industrial development. The village included plans for 10,000 residential homes, 2 golf courses, a wellness centre, a school, commercial buildings and wildlife corridors. Environmental concerns were also addressed, as Canmore contains a series of natural wildlife corridors, which act as migration and travelling routes for elk and deer as well as cougars, grizzly bears, and other animals. These routes are essential for the survival of the different herds and animal species. The development progress strategy was discussed. The Three Sisters Mountain Village Development commissioned Golder Associates Ltd. to study and address the environmental concerns of the stakeholders regarding the migrating routes of wildlife. Mining works mitigation, including mapping of the constraint zones, knowledge of subsidence issues and the effects of subsidence on structural stress and the ability to analysis field data to predict potential problems was also presented along with a methodology for mitigation and choice of backfill material to be used to fill the mine workings. The advantages of using concrete paste backfill were also identified.

The MCM-binding protein ETG1 aids sister chromatid cohesion required for postreplicative homologous recombination repair.

Directory of Open Access Journals (Sweden)

Naoki Takahashi

2010-01-01

Full Text Available The DNA replication process represents a source of DNA stress that causes potentially spontaneous genome damage. This effect might be strengthened by mutations in crucial replication factors, requiring the activation of DNA damage checkpoints to enable DNA repair before anaphase onset. Here, we demonstrate that depletion of the evolutionarily conserved minichromosome maintenance helicase-binding protein ETG1 of Arabidopsis thaliana resulted in a stringent late G2 cell cycle arrest. This arrest correlated with a partial loss of sister chromatid cohesion. The lack-of-cohesion phenotype was intensified in plants without functional CTF18, a replication fork factor needed for cohesion establishment. The synergistic effect of the etg1 and ctf18 mutants on sister chromatid cohesion strengthened the impact on plant growth of the replication stress caused by ETG1 deficiency because of inefficient DNA repair. We conclude that the ETG1 replication factor is required for efficient cohesion and that cohesion establishment is essential for proper development of plants suffering from endogenous DNA stress. Cohesion defects observed upon knockdown of its human counterpart suggest an equally important developmental role for the orthologous mammalian ETG1 protein.

A schedule to demonstrate radiation-induced sister chromatid exchanges in human lymphocytes

International Nuclear Information System (INIS)

Chaudhuri, J.P.

1982-01-01

The reciprocal interchange between the chromatids of a chromosome, termed sister chromatid exchange (SCE), is considered to be one of the most sensitive and accurate cytogenetic parameters and respond to toxic chemicals at very low doses. But the response of SCE to ionizing radiation is very poor. Human lymphocytes fail to give SCE response when irradiated at G 0 . Probably the primary lesions induced at G 0 do not remain available long enough to find expression as SCEs. Based on this assumption a schedule was developed using caffeine to demonstrate radiation induced SCEs. Following this schedule a dose-dependent increase in the frequency of radiation induced SCEs has been observed. (orig.)

Phylogenetic analysis of seven WRKY genes across the palm subtribe Attaleinae (Areceaceae) identifies Syagrus as sister to the coconut

Science.gov (United States)

The origins of the coconut (Cocos nucifera) have been one of the "abominable mysteries" of palm systematics for decades. Previous studies with predominantly plastid genes have indicated an American ancestry for the coconut but with weak support and ambiguous sister relationships. We used primers d...

Sex Differences in Familiality Effects on Neurocognitive Performance in Schizophrenia

Science.gov (United States)

Calkins, Monica E.; Ray, Amrita; Gur, Ruben C.; Freedman, Robert; Green, Michael F.; Greenwood, Tiffany A.; Light, Gregory A.; Nuechterlein, Keith H.; Olincy, Ann; Radant, Allen D.; Seidman, Larry J.; Siever, Larry J.; Silverman, Jeremy M.; Stone, William S.; Sugar, Catherine; Swerdlow, Neal R.; Tsuang, Debby W.; Tsuang, Ming T.; Turetsky, Bruce I.; Braff, David L.; Lazzeroni, Laura C.; Gur, Raquel E.

2013-01-01

Background Numerous studies have documented that patients with schizophrenia show neurocognitive impairments, which are also heritable in schizophrenia families. In view of these findings, the current investigation tested the hypothesis that neurocognitive performance of schizophrenia probands can predict the neurocognitive performance of their unaffected family members. Methods Participants (n=1,967; schizophrenia=369; first-degree relatives=1,072; community comparison subjects=526) in the Consortium on the Genetics of Schizophrenia (COGS) were administered the Penn Computerized Neurocognitive Battery (CNB). Results Consistent with prior work, probands showed significant neurocognitive impairment, and neurocognitive ability was significantly heritable, across domains. On average, unaffected relatives did not differ from community comparison subjects in their neurocognitive performance. However, in 6 of 7 domains, probands’ score predicted the performance of their unaffected siblings. Male, but not female, probands’ performance was predictive of their unaffected relatives (siblings and mothers) performance, most consistently in face memory and spatial processing. Conclusions Using a novel approach in which individual probands are paired with their respective unaffected relatives within each family, we found that male probands’ performance predicted both sister and brother performance, an effect that was most powerfully observed for face memory and spatial processing. Results suggest that the familial transmission of sexually dimorphic neurocognitive domains, in which a particular sex tends to show a performance advantage over the other, may not itself be sex specific in schizophrenia families. PMID:23395246

Statut familial et inégalités face à la scolarisation à Madagascar

Science.gov (United States)

Delaunay, Valérie; Gastineau, Bénédicte; Andriamaro, Frédérique

2013-12-01

The impact of family status in Madagascar on inequalities in schooling - In this article, in the context of generalised access to primary education and parity between girls and boys, we analyse data from the Demographic and Health Survey (DHS) 2009 in Madagascar to examine inequalities in schooling related to children's status in the family. The results confirm the protective benefit for children of living with their biological parents. Fostered children are disadvantaged, especially and increasingly so depending on whether they live with an uncle or aunt, with a distant relative or a non-relative. Conversely, children who reside in the home of a brother or sister are not disadvantaged, a result which reflects the role of elder children in family education strategies. Grandparents play a moderately positive role in schooling. The death of the father is an important factor in dropping out. Finally, children whose parent or parents are not household heads are disadvantaged in terms of schooling compared to children of household heads.

Emergence of ethnochoreology internationally: The Janković sisters, Maud Karpeles, and Gertrude Kurath

Directory of Open Access Journals (Sweden)

Dunin Elsie Ivancich

2014-01-01

Full Text Available A fifty-year (1962-2012 period has been shown as a history of ethnochoreology supported by living memories of members of the International Council for Traditional Music (ICTM Study Group on Ethnochoreology. Recently uncovered and juxtapositioned correspondence of three predecessors within earlier years of the International Folk Music Council (IFMC broadens the history. This article reveals the emergence of ethnochoreology during the 1950s with publications of the two Janković sisters in Serbia with that of Gertrude Kurath in the United States, alongside correspondence with Maud Karpeles, the unheralded founder of the IFMC.

The Scc2/Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions

Science.gov (United States)

Lopez-Serra, Lidia; Kelly, Gavin; Patel, Harshil; Stewart, Aengus; Uhlmann, Frank

2014-01-01

The cohesin complex is at the heart of many chromosomal activities, including sister chromatid cohesion and transcriptional regulation1-3. Cohesin loading onto chromosomes depends on the Scc2/Scc4 cohesin loader complex4-6, but the chromatin features that form cohesin loading sites remain poorly understood. Here, we show that the RSC chromatin remodeling complex recruits budding yeast Scc2/Scc4 to broad nucleosome-free regions, that the cohesin loader itself helps to maintain. Consequently, inactivation of the cohesin loader or RSC complex have similar effects on nucleosome positioning, gene expression and sister chromatid cohesion. These results reveal an intimate link between local chromatin structure and higher order chromosome architecture. Our findings pertain to the similarities between two severe human disorders, Cornelia de Lange syndrome, caused by mutations in the human cohesin loader, and Coffin-Siris syndrome, resulting from mutations in human RSC complex components7-9. Both could arise from gene misregulation due to related changes in the nucleosome landscape. PMID:25173104

Fraternal Birth Order, Family Size, and Male Homosexuality: Meta-Analysis of Studies Spanning 25 Years.

Science.gov (United States)

Blanchard, Ray

2018-01-01

The fraternal birth order effect is the tendency for older brothers to increase the odds of homosexuality in later-born males. This study compared the strength of the effect in subjects from small versus large families and in homosexual subjects with masculine versus feminine gender identities. Meta-analyses were conducted on 30 homosexual and 30 heterosexual groups from 26 studies, totaling 7140 homosexual and 12,837 heterosexual males. The magnitude of the fraternal birth order effect was measured with a novel variable, the Older Brothers Odds Ratio, computed as (homosexuals' older brothers ÷ homosexuals' other siblings) ÷ (heterosexuals' older brothers ÷ heterosexuals' other siblings), where other siblings = older sisters + younger brothers + younger sisters. An Older Brothers Odds Ratio of 1.00 represents no effect of sexual orientation; values over 1.00 are positive evidence for the fraternal birth order effect. Evidence for the reliability of the effect was consistent. The Older Brothers Odds Ratio was significantly >1.00 in 20 instances, >1.00 although not significantly in nine instances, and nonsignificantly <1.00 in 1 instance. The pooled Older Brothers Odds Ratio for all samples was 1.47, p < .00001. Subgroups analyses showed that the magnitude of the effect was significantly greater in the 12 feminine or transgender homosexual groups than in the other 18 homosexual groups. There was no evidence that the magnitude of the effect differs according to family size.

A CO-FISH assay to assess sister chromatid segregation patterns in mitosis of mouse embryonic stem cells.

Science.gov (United States)

Sauer, Stephan; Burkett, Sandra S; Lewandoski, Mark; Klar, Amar J S

2013-05-01

Sister chromatids contain identical DNA sequence but are chiral with respect to both their helical handedness and their replication history. Emerging evidence from various model organisms suggests that certain stem cells segregate sister chromatids nonrandomly to either maintain genome integrity or to bias cellular differentiation in asymmetric cell divisions. Conventional methods for tracing of old vs. newly synthesized DNA strands generally lack resolution for individual chromosomes and employ halogenated thymidine analogs with profound cytotoxic effects on rapidly dividing cells. Here, we present a modified chromosome orientation fluorescence in situ hybridization (CO-FISH) assay, where identification of individual chromosomes and their replication history is achieved in subsequent hybridization steps with chromosome-specific DNA probes and PNA telomere probes. Importantly, we tackle the issue of BrdU cytotoxicity and show that our method is compatible with normal mouse ES cell biology, unlike a recently published related protocol. Results from our CO-FISH assay show that mitotic segregation of mouse chromosome 7 is random in ES cells, which contrasts previously published results from our laboratory and settles a controversy. Our straightforward protocol represents a useful resource for future studies on chromatid segregation patterns of in vitro-cultured cells from distinct model organisms.

Relationship of DNA repair to chromosome aberrations, sister-chromatid exchanges and survival during liquid-holding recovery in X-irradiated mammalian cells

International Nuclear Information System (INIS)

Fornace, A.J. Jr.; Nagasawa, H.; Little, J.B.

1980-01-01

The repair of X-ray-induced DNA single strand breaks and DNA-protein cross-links was investigated in stationary phase, contact-inhibited mouse cells by the alkaline-elution technique. Approx. 90% of X-ray-induced single strand breaks were rejoined during the first hour of repair, whereas most of the remaining breaks were rejoined more slowly during the next 5 h. At early repair times, the number of residual non-rejoined sungle strand breaks was approx. proportional to the X-ray dose. DNA-protein cross-links were removed at a slower rate (Tsub(1/2) approx. 10-12 h). Cells were held in stationary growth for various periods of time after irradiation before subculture at low density to score for colony survival (potentially lethal damage repair), chromosome aberrations in the first mitosis, and sister-chromatid exchanges in the second mitosis. Both cell killing and the frequency of chromosome aberrations decreased during the first several hours of recovery, reaching a minimum level by 6 h; this decrease correlated temporally with the repair of the slowly rejoining DNA-strand breaks. Relatively few sister-chromatid exchanges were observed when the cells were subcultured immediately after X-ray. The exchange frequency rose to maximum levels after a 4-h recovery interval, and returned to control levels after 12 h of recovery. The possible relationship of DNA repair to these changes in survival, chromosome aberrations, and sister-chromatid exchanges during liquid-holding recovery is discussed. (orig.)

20 CFR 633.320 - Nepotism.

Science.gov (United States)

2010-04-01

... family” means wife, husband, son, daughter, mother, father, brother, brother-in-law, sister, sister-in... position funded under the Act if a member of that person's immediate family is engaged in an administrative... the Act, if a member of that person's immediate family is engaged in an administrative capacity for...

[The quality of sibling relation who have experienced family transitions and those who have not].

Science.gov (United States)

Simard, Marie; Beaudry, Madeleine; Drapeau, Sylvie; Nadeau, France; Charbonneau, Cécile

2002-01-01

In this study, similarities and differences in sibling relationships between children who have experienced family transitions and those who have not are examined. Comparisons are made between children who live in intact families, those whose parents have separated, and those who live in substitute care regarding the quality of their relationships with one of their siblings. More specifically, 4 dimensions describing the quality of sibling relationships are compared: Warmth/Closeness, Conflict, Relative Status/Power, and Rivalry (Furman & Buhrmester, 1985). The sample is made up of 3 groups of children (N = 158) aged between 8 and 12 years old: children living in intact families (n = 101), children who have experienced parental separation (n = 35), and children living in substitute care (n = 22). Results indicate differences on dimensions of Warmth/Closeness, Conflict, and Relative Status/Power. Different patterns of responses between the children who have experienced family transitions and those who have not are observed for the dimensions of Conflict and Power. The significant difference observed between the groups for the dimension of Warmth appears difficult to explain. Discussion of these results emphasizes the importance of the relationship between brothers and sisters experiencing family transition.

Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

Directory of Open Access Journals (Sweden)

Leila El Matri

2013-01-01

Full Text Available Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG and color vision testing was performed for all subjects. Results: The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion: This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGDFFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt′s disease.

The unforgotten sisters female astronomers and scientists before Caroline Herschel

CERN Document Server

Bernardi, Gabriella

2016-01-01

Taking inspiration from Siv Cedering’s poem in the form of a fictional letter from Caroline Herschel that refers to “my long, lost sisters, forgotten in the books that record our science”, this book tells the lives of twenty-five female scientists, with specific attention to astronomers and mathematicians. Each of the presented biographies is organized as a kind of "personal file" which sets the biographee’s life in its historical context, documents her main works, highlights some curious facts, and records citations about her. The selected figures are among the most representative of this neglected world, including such luminaries as Hypatia of Alexandra, Hildegard of Bingen, Elisabetha Hevelius, and Maria Gaetana Agnesi. They span a period of about 4000 years, from En HeduAnna, the Akkadian princess, who was one of the first recognized female astronomers, to the dawn of the era of modern astronomy with Caroline Herschel and Mary Somerville. The book will be of interest to all who wish to learn more ...

Sister chromatid exchange in children of Seventh-Day Adventists and matched controls.

Science.gov (United States)

Hermansen, R; Waksvik, H; Fønnebø, V

1991-03-01

The low risk of cancer in Seventh-Day Adventists (SDAs) has been suggested to be due to genetic selection. To investigate this claim we examined the sister chromatid exchange (SCE) frequency in peripheral blood lymphocytes in 16 SDA children in Tromsø, all aged 0.5-8 years and 16 controls matched for sex and age. In 12 of 16 pairs, the SDA children had a lower SCE frequency than the controls. The mean difference was 4.06 (95% confidence interval -17.02-8.89, P = 0.51). There was no sex difference, and no correlation between age and SCE frequency. The genetic starting point with regard to SCE frequency seems to be the same for SDA children and controls.

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

Directory of Open Access Journals (Sweden)

Radhika C G Raj

2015-01-01

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

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

Science.gov (United States)

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

2011-07-01

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

Sex differences in familiality effects on neurocognitive performance in schizophrenia.

Science.gov (United States)

Calkins, Monica E; Ray, Amrita; Gur, Ruben C; Freedman, Robert; Green, Michael F; Greenwood, Tiffany A; Light, Gregory A; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Stone, William S; Sugar, Catherine; Swerdlow, Neal R; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Braff, David L; Lazzeroni, Laura C; Gur, Raquel E

2013-05-15

Numerous studies have documented that patients with schizophrenia show neurocognitive impairments, which are also heritable in schizophrenia families. In view of these findings, the current investigation tested the hypothesis that neurocognitive performance of schizophrenia probands can predict the neurocognitive performance of their unaffected family members. Participants (n=1967; schizophrenia=369; first-degree relatives=1072; community comparison subjects=526) in the Consortium on the Genetics of Schizophrenia were administered the Penn Computerized Neurocognitive Battery. Consistent with prior work, probands showed significant neurocognitive impairment, and neurocognitive ability was significantly heritable across domains. On average, unaffected relatives did not differ from community comparison subjects in their neurocognitive performance. However, in six of seven domains, proband scores predicted the performance of their unaffected siblings. Male, but not female, proband performance was predictive of their unaffected relatives' (siblings and mothers) performance, most consistently in face memory and spatial processing. Using a novel approach in which individual probands are paired with their respective unaffected relatives within each family, we found that male proband performance predicted both sister and brother performance, an effect that was most powerfully observed for face memory and spatial processing. Results suggest that the familial transmission of sexually dimorphic neurocognitive domains, in which a particular sex tends to show a performance advantage over the other, may not itself be sex specific in schizophrenia families. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Sister-chromatid exchange induced by X-ray of human lymphocytes and the effect of L-crysteine

International Nuclear Information System (INIS)

Abramovski, I.; Vorsanger, G.; Hirschhorn, K.

1978-01-01

A staining technique that detects sister-chromatid exchanges (SCEs) has been used to examine the response of human lymphocyte chromosomes to various dosages of X-irradiation. The SCE frequency was markedly increased following irradiation. However, the increase was of a significantly smaller magnitude when irradiation occurred in the presence of an antimutagenic agent. Scoring SCEs may provide a useful technique for assaying the mutagenic effects of environmental carcinogens as well as the protective effects of antimutagenic agents. (Auth.)

Emplacement of Holocene silicic lava flows and domes at Newberry, South Sister, and Medicine Lake volcanoes, California and Oregon

Science.gov (United States)

Fink, Jonathan H.; Anderson, Steven W.

2017-07-19

This field guide for the International Association of Volcanology and Chemistry of the Earth’s Interior (IAVCEI) Scientific Assembly 2017 focuses on Holocene glassy silicic lava flows and domes on three volcanoes in the Cascade Range in Oregon and California: Newberry, South Sister, and Medicine Lake volcanoes. Although obsidian-rich lava flows have been of interest to geologists, archaeologists, pumice miners, and rock hounds for more than a century, many of their emplacement characteristics had not been scientifically observed until two very recent eruptions in Chile. Even with the new observations, several eruptive processes discussed in this field trip guide can only be inferred from their final products. This makes for lively debates at outcrops, just as there have been in the literature for the past 30 years.Of the three volcanoes discussed in this field guide, one (South Sister) lies along the main axis defined by major peaks of the Cascade Range, whereas the other two lie in extensional tectonic settings east of the axis. These two tectonic environments influence volcano morphology and the magmatic and volcanic processes that form silicic lava flows and domes. The geomorphic and textural features of glass-rich extrusions provide many clues about their emplacement and the magma bodies that fed them.The scope of this field guide does not include a full geologic history or comprehensive explanation of hazards associated with a particular volcano or volcanic field. The geochemistry, petrology, tectonics, and eruption history of Newberry, South Sister, and Medicine Lake volcanic centers have been extensively studied and are discussed on other field excursions. Instead, we seek to explore the structural, textural, and geochemical evolution of well-preserved individual lava flows—the goal is to understand the geologic processes, rather than the development, of a specific volcano.

Creating Sister Cities: An Exchange Across Hemispheres

Science.gov (United States)

Adams, M. T.; Cabezon, S. A.; Hardy, E.; Harrison, R. J.

2008-06-01

Sponsored by Associated Universities, Inc. (AUI) and the National Radio Astronomy Observatory (NRAO), this project creates a cultural and educational exchange program between communities in South and North America, linking San Pedro de Atacama in Chile and Magdalena, New Mexico in the United States. Both communities have similar demographics, are in relatively undeveloped regions of high-elevation desert, and are located near major international radio astronomy research facilities. The Atacama Large Millimeter/submillimeter Array (ALMA) is just 40 km east of San Pedro; the Very Large Array (VLA) is just 40 km west of Magdalena. In February 2007, the Mayor of San Pedro and two teachers visited Magdalena for two weeks; in July 2007 three teachers from Magdalena will visit San Pedro. These visits enable the communities to lay the foundation for a permanent, unique partnership. The teachers are sharing expertise and teaching methodologies for physics and astronomy. In addition to creating science education opportunities, this project offers students linguistic and cultural connections. The town of San Pedro, Chile, hosts nearly 100,000 tourists per year, and English language skills are highly valued by local students. Through exchanges enabled by email and distance conferencing, San Pedro and Magdalena students will improve English and Spanish language skills while teaching each other about science and their respective cultures. This poster describes the AUI/NRAO Sister Cities program, including the challenges of cross-cultural communication and the rewards of interpersonal exchanges between continents and cultures.

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

Directory of Open Access Journals (Sweden)

Vanali V Umrania

2016-01-01

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

Reducing HIV risk among transgender women in Thailand: a quasi-experimental evaluation of the sisters program.

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Duangta Pawa

Full Text Available Transgender women are particularly at risk of HIV infection, but little evidence exists on effective HIV prevention strategies with this population. We evaluated whether Sisters, a peer-led program for transgender women, could reduce HIV risks in Pattaya, Thailand. The study used time-location sampling to recruit 308 transgender women in Pattaya into a behavioral survey in 2011. Coarsened exact matching was used to create statistically equivalent groups of program participants and non-participants, based on factors influencing likelihood of program participation. Using multivariable logistic regression, we estimated effects of any program participation and participation by delivery channel on: condom use at last sex; consistent condom and condom/water-based lubricant use in the past 3 months with commercial, casual, and regular partners; and receipt of HIV testing in the past 6 months. Program coverage reached 75% of the population. In a matched sub-sample (n = 238, participation in outreach was associated with consistent condom/water-based lubricant use with commercial partners (AOR 3.22, 95% CI 1.64-6.31. Attendance at the Sisters drop-in center was associated with receiving an HIV test (AOR 2.58, 95% CI 1.47-4.52. Dedicated transgender-friendly programs are effective at reducing HIV risks and require expansion to better serve this key population and improve HIV prevention strategies.

78 FR 52787 - Kevin Dennis, M.D., Decision and Order

Science.gov (United States)

2013-08-26

... phentermine to family members, including his sister, wife and mother-in-law. Id. at 41. However, the ALJ also... May 23, 2008. GX 15, at 9-16. Each of the prescriptions included Respondent's cell-phone number, id... phentermine 37.5mg, to family members including his wife, sister, and mother-in-law. See GX 19, at 12-13, 17...

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

OpenAIRE

Orstavik, K H; Strømme, P; Ek, J; Torvik, A; Skjeldal, O H

1997-01-01

We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

Evolutionary comparison of prenylation pathway in kinetoplastid Leishmania and its sister Leptomonas.

Science.gov (United States)

Chauhan, Indira Singh; Kaur, Jaspreet; Krishna, Shagun; Ghosh, Arpita; Singh, Prashant; Siddiqi, Mohammad Imran; Singh, Neeloo

2015-11-21

Leptomonas is monogenetic kinetoplastid parasite of insects and is primitive in comparison to Leishmania. Comparative studies of these two kinetoplastid may share light on the evolutionary transition to dixenous parasitism in Leishmania. In order to adapt and survive within two hosts, Leishmania species must have acquired virulence factors in addition to mechanisms that mediate susceptibility/resistance to infection in the pathology associated with disease. Rab proteins are key mediators of vesicle transport and contribute greatly to the evolution of complexity of membrane transport system. In this study we used our whole genome sequence data of these two divergent kinetoplastids to analyze the orthologues/paralogues of Rab proteins. During change of lifestyle from monogenetic (Leptomonas) to digenetic (Leishmania), we found that the prenyl machinery remained unchanged. Geranylgeranyl transferase-I (GGTase-I) was absent in both Leishmania and its sister Leptomonas. Farnesyltransferase (FTase) and geranylgeranyl transferase-II (GGTase-II) were identified for protein prenylation. We predict that activity of the missing alpha-subunit (α-subunit) of GGTase-II in Leptomonas was probably contributed by the α-subunit of FTase, while beta-subunit (β-subunit) of GGTase-II was conserved and indicated functional conservation in the evolution of these two kinetoplastids. Therefore the β-subunit emerges as an excellent target for compounds inhibiting parasite activity in clinical cases of co-infections. We also confirmed that during the evolution to digenetic life style in Leishmania, the parasite acquired capabilities to evade drug action and maintain parasite virulence in the host with the incorporation of short-chain dehydrogenase/reductase (SDR/MDR) superfamily in Rab genes. Our study based on whole genome sequences is the first to build comparative evolutionary analysis and identification of prenylation proteins in Leishmania and its sister Leptomonas. The information

SisterTalk: final results of a culturally tailored cable television delivered weight control program for Black women

OpenAIRE

Risica, Patricia Markham; Gans, Kim M; Kumanyika, Shiriki; Kirtania, Usree; Lasater, Thomas M

2013-01-01

Background Obesity among Black women continues to exceed that of other women. Most weight loss programs created without reference to specific cultural contexts are less effective for Black than White women. Weight control approaches accessible to Black women and adapted to relevant cultural contexts are important for addressing this problem. This paper reports the final results of SisterTalk, the randomized controlled trial of a cable TV weight control program oriented toward Black women. Met...

Phylogenomic analyses of more than 4000 nuclear loci resolve the origin of snakes among lizard families.

Science.gov (United States)

Streicher, Jeffrey W; Wiens, John J

2017-09-01

Squamate reptiles (lizards and snakes) are the most diverse group of terrestrial vertebrates, with more than 10 000 species. Despite considerable effort to resolve relationships among major squamates clades, some branches have remained difficult. Among the most vexing has been the placement of snakes among lizard families, with most studies yielding only weak support for the position of snakes. Furthermore, the placement of iguanian lizards has remained controversial. Here we used targeted sequence capture to obtain data from 4178 nuclear loci from ultraconserved elements from 32 squamate taxa (and five outgroups) including representatives of all major squamate groups. Using both concatenated and species-tree methods, we recover strong support for a sister relationship between iguanian and anguimorph lizards, with snakes strongly supported as the sister group of these two clades. These analyses strongly resolve the difficult placement of snakes within squamates and show overwhelming support for the contentious position of iguanians. More generally, we provide a strongly supported hypothesis of higher-level relationships in the most species-rich tetrapod clade using coalescent-based species-tree methods and approximately 100 times more loci than previous estimates. © 2017 The Author(s).

Narrative research on mental health recovery: two sister paradigms.

Science.gov (United States)

Spector-Mersel, Gabriela; Knaifel, Evgeny

2017-06-24

Despite the breadth of narrative studies on individuals with severe mental illness, the suitability of narrative inquiry to exploring mental health recovery (MHR) has not been examined. (1) Examining the appropriateness of narrative inquiry to studying MHR; (2) assessing the extent to which narrative studies on MHR conform to the unique features of narrative research, as a distinctive form of qualitative inquiry. Review of empirical, theoretical and methodological literature on recovery and narrative inquiry. Considering the perspectives of recovery and narrative as paradigms, the similarity between their ontology and epistemology is shown, evident in 10 common emphases: meaning, identity, change and development, agency, holism, culture, uniqueness, context, language and giving voice. The resemblance between these "sister" paradigms makes narrative methodology especially fruitful for accessing the experiences of individuals in recovery. Reviewing narrative studies on MHR suggests that, currently, narrative research's uniqueness, centered on the holistic principle, is blurred on the philosophical, methodological and textual levels. Well-established narrative research has major implications for practice and policy in recovery-oriented mental health care. The narrative inquiry paradigm offers a possible path to enhancing the distinctive virtues of this research, realizing its potential in understanding and promoting MHR.

Elevated sister chromatid exchange frequencies in New Zealand Vietnam War veterans.

Science.gov (United States)

Rowland, R E; Edwards, L A; Podd, J V

2007-01-01

From July 1965 until November 1971, New Zealand Defence Force Personnel fought in the Vietnam War. During this time more than 76,500,000 litres of phenoxylic herbicides were sprayed over parts of Southern Vietnam and Laos, the most common being known as 'Agent Orange'. The current study aimed to ascertain whether or not New Zealand Vietnam War veterans show evidence of genetic disturbance arising as a consequence of their now confirmed exposure to these defoliants. A sample group of 24 New Zealand Vietnam War veterans and 23 control volunteers were compared using an SCE (sister chromatid exchange) analysis. The results from the SCE study show a highly significant difference (P Vietnam War veterans studied here were exposed to a clastogenic substance(s) which continues to exert an observable genetic effect today, and suggest that this is attributable to their service in Vietnam. Copyright 2007 S. Karger AG, Basel.

Association of in vitro radiosensitivity and cancer in a family with acute myelogenous leukemia

International Nuclear Information System (INIS)

Bech-Hansen, N.T.; Sell, B.M.; Mulvihill, J.J.; Paterson, M.C.

1981-01-01

The gamma-ray sensitivity of skin fibroblasts from six members of a cancer family was investigated using a colony-forming assay. Fibroblasts from the three members with cancer (two sisters with acute myelogenous leukemia and the mother with cervical carcinoma) showed a significant (p less than 0.05) increase in radiosensitivity, while three members without cancer (the father and two sons) showed a normal radioresponse. The possibility that the increased gamma-ray sensitivity was due to defective DNA repair was investigated using assays for DNA repair replication, single-strand break rejoining, and removal of enzyme-sensitive sites in gamma-irradiated DNA. Results of these assays indicate that the kinetics of enzymatic repair of radiogenic DNA damage in general, and the rejoining of single-strand scissions and excision repair of base and sugar radioproducts in particular, were the same in the cell lines from the sensitive and clinically normal family members

Association of in vitro radiosensitivity and cancer in a family with acute myelogenous leukemia

International Nuclear Information System (INIS)

Bech-Hansen, N.T.; Sell, B.M.; Mulvihill, J.J.; Paterson, M.C.

1981-01-01

The γ-ray sensitivity of skin fibroblasts from six members of a cancer family was investigated using a colony-forming assay. Fibroblasts from the three members with cancer (two sisters with acute myelogenous leukemia and the mother with cervical carcinoma) showed a significant ( p > 0.05) increase in radiosensitivity, while three members without cancer (the father and two sons) showed a normal radioresponse. The possiblity that the increased γ-ray sensitivity was due to defective DNA repair was investigated using assays for DNA repair replication, single-strand break rejoining, and removal of enzyme-sensitive sites in γ-irradiated DNA. Results of these assays indicate that the kinetics of enzymatic repair of radiogenic DNA damage in general, and the rejoining of single-strand scissions and excision repair of base and sugar radioproducts in partigular, were the same in the cell lines from the sensitive and clinically normal family members

They never see how hard it is to be me: siblings' observations of strangers, peers and family.

Science.gov (United States)

Barr, Jacqueline; McLeod, Sharynne

2010-04-01

Siblings of children with disabilities are an important consideration for professionals working in family-centred contexts. Siblings of children with a disability often have unique experiences and insights that can assist understanding within family-centred interactions. In order to understand siblings' complex interactions with others in their lives, 676 contributions to a children's Internet sibling support site were analysed. Three themes arose from the inductive thematic analysis regarding siblings' interactions with strangers, peers, and their family. Identified subthemes (written from the perspective of the siblings) were as follows: Strangers stare and have negative attitudes towards my sibling with a disability; peers don't understand what it's like to be me, use certain words that upset me, say nasty things and tease me about my brother/sister; although my family loves me, they don't have a lot of time for me, our plans are often disrupted, and they give me a lot of responsibility. Within family-centred intervention it is recommended that health and education professionals, and parents assist siblings to build effective strategies for interacting with others others and learn from siblings' insights.

Preparing Your Child for a New Sibling (For Parents)

Science.gov (United States)

... Family Getting Along With Brothers and Sisters Kids Talk About: Brothers and Sisters View more ... All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

Prolegomenon to the Study of "Brother" as a Male Family Role.

Science.gov (United States)

Arkin, William

1979-01-01

Directs the reader to sibling gender relationships. Patterns of intimacy in brother-brother and brother-sister relationships are identified. Masculine gender role patterns were expressed more frequently than classic sibling rivalry. Sisters, not mothers, were discovered to be the primary socializing agent for some of men's intimate relationships…

Sister Mary Theresa Brentano, OSB's Innovative Use of Magnetic Audio Tapes: An Overlooked Story in the History of Educational Technology.

Science.gov (United States)

Herndon, Linda

This paper tells the story of Sister Mary Theresa Brentano, O.S.B's (1902-1987) innovative use of magnetic audiotapes to provide instruction for students in grades K-12. From 1952 to approximately 1968, Brentano implemented, refined, and tested her tape teaching methods with special emphasis on individualizing instruction in the elementary school.…

Familial concordance for age at natural menopause: results from the Breakthrough Generations Study.

Science.gov (United States)

Morris, Danielle H; Jones, Michael E; Schoemaker, Minouk J; Ashworth, Alan; Swerdlow, Anthony J

2011-09-01

Existing estimates of the heritability of menopause age have a wide range. Furthermore, few studies have analyzed to what extent familial similarities might reflect shared environment, rather than shared genes. We therefore analyzed familial concordance for age at natural menopause and the effects of shared genetic and environmental factors on this concordance. Participants were 2,060 individuals comprising first-degree relatives, aged 31 to 90 years, and participating in the UK Breakthrough Generations Study. Menopause data were collected using a self-administered questionnaire and analyzed using logistic regression and variance-components models. Women were at an increased risk of early menopause (≤45 y) if their mother (odds ratio, 6.2; P menopause. Likewise, women had an increased risk of late menopause (≥54 y) if their relative had had a late menopause (mother: odds ratio, 6.1; P menopause age attributed to environmental factors shared by sisters. We confirm that early menopause aggregates within families and show, for the first time, that there is also strong familial concordance for late menopause. Both genes and shared environment were the source of variation in menopause age. Past heritability estimates have not accounted for shared environment, and thus, the effect of genetic variants on menopause age may previously have been overestimated.

The Politics of Exile: Ama Ata Aidoo's Our Sister Killjoy

Directory of Open Access Journals (Sweden)

Gay Wilentz

1991-01-01

Full Text Available Ama Ata Aidoo's Our Sister Killjoy or Reflections from a Black-Eyed Squint is a relentless attack on the notions of exile as relief from the societal constraints of national development and freedom to live in a cultural environment conducive to creativity. In this personalized prose/poem, Aidoo questions certain prescribed theories of exile (including the reasons for exile—particularly among African men. The novel exposes a rarely heard viewpoint in literature in English—that of the African woman exile. Aidoo's protagonist Sissie, as the "eye" of her people, is a sojourner in the "civilized" world of the colonizers. In this article, I examine Aidoo's challenge to prevailing theories of exile, her questioning of the supposed superiority of European culture for the colonial subject, and her exposé of the politics of exile for African self-exile. Through a combination of prose, poetry, oral voicing and letter writing, Aidoo's Sissie reports back to her home community what she sees in the land of the colonizers and confronts those exiles who have forgotten their duty to their native land.

Micronuclear and sister chromatid exchange analyses in peripheral lymphocytes of patients with oral lichen planus--a pilot study.

Science.gov (United States)

Ergun, S; Warnakulasuriya, S; Duman, N; Saruhanoğlu, A; Sevinç, B; Oztürk, S; Ozel, S; Cefle, K; Palanduz, S; Tanyeri, H

2009-10-01

The purpose of this study was to determine the genetic instability of peripheral blood lymphocytes from patients diagnosed with oral lichen planus (OLP) by investigation of frequencies of micronuclei (MN) and sister chromatid exchange (SCE). A total of 22 newly diagnosed and untreated patients with OLP of same severity scores and twenty healthy controls participated in this study. They were all non-smokers with no previous history or family history of cancer. The periodontal status, flow rate and buffering capacity of whole mouth saliva were recorded. SCE and MN analyses were performed on peripheral blood lymphocytes of OLP patients and healthy controls. The frequencies of MN (50.00 +/- 22.36) and SCE (6.89 +/- 1.48) in OLP patients were found to be significantly elevated compared with that in normal individuals (25.20 +/- 9.52 and 5.93 +/- 1.31; z = 3.946, P = 0.0001; z = 2.346, P = 0.019). There were no significant differences in the MN frequency and SCE between the two subgroups with reticular or erosive types of OLP. These pilot data indicate an increased genomic instability in peripheral blood lymphocytes of a cohort of Turkish patients diagnosed with oral lichen planus as compared with that of healthy individuals. As patients with OLP may have an increased or potential risk for oral malignancy, these assays could be used in translational research to monitor beneficial effects of interventions and long-term prognosis.

Introgression and selection shaped the evolutionary history of sympatric sister-species of coral reef fishes (genus: Haemulon)

KAUST Repository

Bernal, Moisés A.

2016-11-22

Closely related marine species with large overlapping ranges provide opportunities to study mechanisms of speciation, particularly when there is evidence of gene flow between such lineages. Here, we focus on a case of hybridization between the sympatric sister-species Haemulon maculicauda and H. flaviguttatum, using Sanger sequencing of mitochondrial and nuclear loci, as well as 2422 single nucleotide polymorphisms (SNPs) obtained via restriction site-associated DNA sequencing (RADSeq). Mitochondrial markers revealed a shared haplotype for COI and low divergence for CytB and CR between the sister-species. On the other hand, complete lineage sorting was observed at the nuclear loci and most of the SNPs. Under neutral expectations, the smaller effective population size of mtDNA should lead to fixation of mutations faster than nDNA. Thus, these results suggest that hybridization in the recent past (0.174-0.263Ma) led to introgression of the mtDNA, with little effect on the nuclear genome. Analyses of the SNP data revealed 28 loci potentially under divergent selection between the two species. The combination of mtDNA introgression and limited nuclear DNA introgression provides a mechanism for the evolution of independent lineages despite recurrent hybridization events. This study adds to the growing body of research that exemplifies how genetic divergence can be maintained in the presence of gene flow between closely related species.

Introgression and selection shaped the evolutionary history of sympatric sister-species of coral reef fishes (genus: Haemulon)

KAUST Repository

Bernal, Moisé s A.; Gaither, Michelle R.; Simison, W. Brian; Rocha, Luiz A.

2016-01-01

Closely related marine species with large overlapping ranges provide opportunities to study mechanisms of speciation, particularly when there is evidence of gene flow between such lineages. Here, we focus on a case of hybridization between the sympatric sister-species Haemulon maculicauda and H. flaviguttatum, using Sanger sequencing of mitochondrial and nuclear loci, as well as 2422 single nucleotide polymorphisms (SNPs) obtained via restriction site-associated DNA sequencing (RADSeq). Mitochondrial markers revealed a shared haplotype for COI and low divergence for CytB and CR between the sister-species. On the other hand, complete lineage sorting was observed at the nuclear loci and most of the SNPs. Under neutral expectations, the smaller effective population size of mtDNA should lead to fixation of mutations faster than nDNA. Thus, these results suggest that hybridization in the recent past (0.174-0.263Ma) led to introgression of the mtDNA, with little effect on the nuclear genome. Analyses of the SNP data revealed 28 loci potentially under divergent selection between the two species. The combination of mtDNA introgression and limited nuclear DNA introgression provides a mechanism for the evolution of independent lineages despite recurrent hybridization events. This study adds to the growing body of research that exemplifies how genetic divergence can be maintained in the presence of gene flow between closely related species.

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

Science.gov (United States)

Nishigaki, Satsuki; Hamazaki, Takashi; Fujita, Keinosuke; Morikawa, Shuntaro; Tajima, Toshihiro; Shintaku, Haruo

2016-12-01

Hemizygous mutations in the immunoglobulin superfamily member 1 (IGSF1) gene have been demonstrated to cause congenital central hypothyroidism in males. This study reports a family with a novel mutation in the IGSF1 gene located on the long arm of the X chromosome. A two-month-old boy was diagnosed with central hypothyroidism because of prolonged jaundice. A thyrotropin-releasing hormone (TRH) stimulation test indicated dysfunction in both the hypothalamus and the pituitary gland, and prompted the IGSF1 gene to be analyzed. The patient had a novel nonsense variant, c.2713C>T (p.Q905X), in exon 14 of the IGSF1 gene. Studies of the family revealed that the patient's sister and mother were heterozygous carriers of the IGSF1 mutation. The patient's maternal uncle carried the same mutation as the proband but had no overt symptoms. The mother and uncle started levothyroxine supplementation because of subclinical hypothyroidism. A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity.

Mutation, detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs

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Vielhaber, E.; Sommer, S.S. [Mayo Clinic/Foundation, Rochester, MN (United States); Freedenberg, D. [Scott and White Clinic, Temple, TX (United States)

1994-01-15

Hemophilia B is an X-linked recessive disorder affecting 1 in 30,000 males. Determination of carrier status for at risk females can be done by utilizing indirect methods such as DNA sequencing. However, in most cases, reliable carrier testing is not possible without first analyzing the DNA from an affected male in the family to determine his haplotype/causative sequence change. In the case presented here, the only affected male in the family has been deceased for 25 years; no DNA was available from him. The sister (III-2) of the affected individual was a suspected carrier based on her factor IX coagulant (36%); she was pregnant with a male fetus, and requested prenatal testing. 6 refs., 2 figs.

Magmatic Activity Beneath the Quiescent Three Sisters Volcanic Center, Central Oregon Cascade Range, USA, Inferred from Satellite InSAR

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Wicks, C. W.; Dzurisin, D.; Ingebritsen, S.; Thatcher, W.; Lu, Z.; Iverson, J.

2001-12-01

Images from satellite interferometric synthetic aperture radar (InSAR) reveal uplift of a broad ~10 km by 20 km area in the Three Sisters volcanic center of the central Oregon Cascade Range, ~130 km south of Mt. St. Helens. The uplift is centered ~5 km west of South Sister volcano, the youngest stratovolcano in the volcanic center. The center has been volcanically inactive since the last eruption ~1500 years ago. Multiple European Space Agency ERS-1 and 2 satellite images from 1992 through 2000, used in this study, were selected based on orbital separation and time of year. Summer and early autumn scenes were necessary to avoid decorrelation from snow cover. Interferograms generated from these images indicate that most if not all of ~100 mm of observed uplift occurred between September 1998 and October 2000. We interpret the uplift as inflation caused by an apparently ongoing episode of magma intrusion at a depth of ~6.5 km. Geochemical (water chemistry) anomalies, first noted ~1990, coincide with the area of uplift and suggest the existence of a magma reservoir prior to the uplift. High chloride and sulfate concentrations, and a positive correlation between chloride concentration and spring temperature were found within the uplift area, with larger SO4/Cl ratios in springs at higher elevations. These findings are indicative of a high-temperature hydrothermal system driven by magma intrusions. The current inflation episode observed with InSAR may lead to an eruption, but the more persistent geochemical evidence suggests that the episode is likely the latest in a series of hitherto undetected magma intrusions. We do not yet know if the inflation has abated, is continuing, or has accelerated since October 2000--we only know that the highest rate of uplift occurred in the last year for which ERS-2 data was available (1999- 2000). In May of 2001, a continuous GPS receiver and seismometer were installed by the USGS within the Three Sisters Wilderness to monitor the

Differential environmental factors in anorexia nervosa: a sibling pair study.

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Murphy, F; Troop, N A; Treasure, J L

2000-06-01

Previous studies have explored differences in psychosocial and familial factors between women who develop anorexia nervosa and those who do not. However, these studies have generally used between-group comparisons. This study looks at the environmental factors which may be antecedents of anorexia nervosa looking at sister pairs where one had anorexia nervosa and the other did not. A paired design was used to compare anorexic women with an unaffected sister on a number of background variables, including sibling interaction, parental care, peer group characteristics and other events unique to the individual. The Sibling Inventory of Differential Experience (SIDE) was used to determine non-shared environment. Out of an initial sample of 148 women with past or current anorexia nervosa, 28 were identified who had sisters with no reported history of eating disorders and who also consented to complete the questionnaire. Anorexic sisters perceived more maternal control and reported more antagonism towards and jealousy of their sisters than did unaffected sisters. In addition, anorexic women reported having had fewer friends and boyfriends than their sisters. These results confirm the perceived differences in background environment between women with and women without anorexia nervosa. These issues are discussed in relation to behavioural genetics, family dynamics and psychosexual development.

Historical-Geographical Location of Lands Exploited by the Family of Christopher Columbus in the Port of San Juan (Huelva, Spain

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David González Cruz

2017-11-01

Full Text Available This research presents as novelty the geographical location of certain places that were part of the process of gestation of the discovery of America In addition, it also confirms the linking of the portuguese Briolanja Muñiz —sister in law of Christopher Columbus— with the port of San Juan (Huelva, Spain, and at the same time, offers unpublished data on the boundaries of the estate where the family of the famous discoverer was seated while he managed and organized his first overseas trip.

Der gesellschaftlich-kulturelle Kontext der aktuellen Gefährdungen für ... die religiöse Erziehung und Bildung in der Familie

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Józef Stala

2013-04-01

Full Text Available In a society shaken by tensions and conflicts caused by the clash of various kinds of individualism and selfishness, children need to be enriched with a sense of the personal dignity of each individual, true love and sincere service to the others, especially the poorest and those in most need. The family is the first and fundamental school of upbringing: as a community of life and love. Every Christian family finds its mission received from God in self-giving that inspires the love of husband and wife for each other and the self-giving that is practiced in the relationships between brothers and sisters and the different generations living together in the family. The author of this article shows the actual threats to religious upbringing and education in the family with special attention given to the postmodern socio-cultural context. He also highlights financial, social, moral and religious crisis influencing the family life and education. Then asks for the roots of these negative phenomena and searches for the pedagogical solution.

In vitro and occupational induction of sister-chromatid exchanges in human lymphocytes with furfuryl alcohol and furfural

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Gomez-Arroyo, S.; Souza, V.

1985-06-01

Sister-chromatid exchanges (SCEs) in human lymphocytes were studied using the FPG technique in order to determine the cytogenetic effect of furfural and furfuryl alcohol. The induction of SCEs was also investigated in workers occupationally exposed to these solvents that are commonly used in the manufacture of furoic resins. The results obtained from the in vitro treatments show that furfural increased the number of SCEs, while furfuryl alcohol did not. In exposed workers, neither of these solvents increased the spontaneous frequency of SCEs per metaphase.

Indirect intergenic suppression of a radiosensitive mutant of Sordaria macrospora defective in sister-chromatid cohesiveness.

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Huynh, A D; Leblon, G; Zickler, D

1986-01-01

Six ultra violet (UV) mutageneses were performed on the spo76 UV-sensitive mutant of Sordaria macrospora. Spo76 shows an early centromere cleavage associated with an arrest at the first meiotic division and therefore does not form ascospores. Moreover, it exhibits altered pairing structure (synaptonemal complex), revealing a defect in the sister-chromatid cohesiveness. From 37 revertants which partially restored sporulation, 34 extragenic suppressors of spo76 were isolated. All suppressors are altered in chromosomal pairing but, unlike spo76, show a wild type centromere cleavage. The 34 suppressors were assigned to six different genes and mapped. Only one of the suppressor genes is involved in repair functions.

Evaluation of the persistence in the induction of Sister Chromatid Exchanges (SCE) by alkylating agents

International Nuclear Information System (INIS)

Rodriguez R, R.; Huerta V, C.; MOrales R, P.R.

2006-01-01

The persistence in the induction of sister chromatid exchanges (SCE) by the alkylating agents methyl and ethyl-methanesulfonates (MMS and EMS) was evaluated. For it, to groups of mice its were administered a dose of these agents and later its were analyzed the induced SCE's in two periods: early and late. Both agents caused high increments of SCE in the early period and small in the late one; however, the caused lately by EMS was significantly bigger. This late induction of SCE by EMS possibly is associated with an epigenetic change or with the presence of etiladucts in the phosphodiester bonds of the DNA. (Author)

Tricky typhus ticks two: A report of two sisters from North India presenting with acute respiratory distress syndrome due to scrub typhus

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R Pai

2016-01-01

Full Text Available Scrub typhus is emerging as an important cause of acute febrile illness in Northern India. This is a report of two sisters presenting concurrently with acute respiratory distress syndrome. A diagnosis of scrub typhus was made in both the patients, and they were successfully treated with doxycycline.

Detection of sister-species in invasive populations of the fall armyworm Spodoptera frugiperda (Lepidoptera: Noctuidae) from Uganda

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Tay, Wee Tek; Walsh, Thomas K.; Kanyesigye, Dalton; Adumo, Stella; Abongosi, Joseph; Ochen, Stephen; Sserumaga, Julius; Alibu, Simon; Abalo, Grace; Asea, Godfrey; Agona, Ambrose

2018-01-01

The fall armyworm (FAW) Spodoptera frugiperda (J. E. Smith) is a species native to the Americas. This polyphagous lepidopteran pest was first reported in Nigeria and the Democratic Republic of São Tomé and Principe in 2016, but its presence in eastern Africa has not been confirmed via molecular characterisation. In this study, FAW specimens from western and central Uganda were identified based on the partial mtDNA COI gene sequences, with mtDNA COI haplotypes matching those identified in Nigeria and São Tomé. In this study, we sequence an additional partial mtDNA Cyt b gene and also the partial mtDNA COIII gene in Ugandan FAW samples. We detected identical mitochondrial DNA haplotypes for both the mtDNA Cyt b and COI partial genes, while combining the mtDNA COI/Cyt b haplotypes and mtDNA COIII haplotypes enabled a new maternal lineage in the Ugandan corn-preferred FAW samples to be identified. Our results suggested that the African incursions of S. frugiperda involved at least three maternal lineages. Recent full genome, phylogenetic and microsatellite analyses provided evidence to support S. frugiperda as likely consisted of two sympatric sister species known as the corn-preferred and rice-preferred strains. In our Ugandan FAW populations, we identified the presence of mtDNA haplotypes representative of both sister species. It is not known if both FAW sister species were originally introduced together or separately, and whether they have since spread as a single population. Further analyses of additional specimens originally collected from São Tomé, Nigeria and throughout Africa would be required to clarify this issue. Importantly, our finding showed that the genetic diversity of the African corn-preferred FAW species is higher than previously reported. This potentially contributed to the success of FAW establishment in Africa. Furthermore, with the additional maternal lineages detected, there is likely an increase in paternal lineages, thereby increasing

Blind adolescents' birth order as a determinant of their perception of family functioning dimensions

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Stanimirović Dragana

2013-01-01

Full Text Available While other theoreticians of personality stressed only the influence of parents in early childhood, Adler paid particular attention to a psychological position of a child among brothers/sisters. There is some empirical evidence that birth order may influence vocational choice, characteristic style of interacting with others, affiliation, anxiety, perception of parents' authority, and even intellectual capabilities. Visual impairment of a family member affects a family system and a sibling subsystem in a specific way. The goal of the research was to determine whether birth order influences perception of dimensions of family functioning in families with a blind adolescent and in families with an adolescent of typical development. The sample included 32 blind (experimental group and 32 subjects of typical development (control group aged 14 to 26, who lived in complete families with two or three children and without serious personal, marrital or family problems. The groups were paired by sex, age, professional status and birth order of adolescents, number of children in the family, type of family (nuclear; extended and environment (rural; urban. A Questionnaire of socio-demographic information and a Questionnaire of situation and family relationships RADIR by Knežević were applied for data collection. First-borns made lower appraisals of each dimension of family functioning than second-born respondents. There were no statistically significant differences in the control group. Differences in the experimental group were statistically significant in the following dimensions: Activity, Democracy and Structuring time and activity. Thus, the results show that first-born child's 'dethronement' has more effect if it is associated with blindness. This can be explained by fact that it is more difficult for a blind first-born child to catch up with a second-born 'rival'.

Sister mary joseph′s nodule: A case of umbilical cutaneous metastasis with signet ring cell histology

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Zadeh Valid

2009-01-01

Full Text Available The metastasis of a visceral malignancy to the umbilicus is known as "Sister Mary Joseph′s nodule". It is a rare clinical sign indicating advanced, metastasizing intraabdominal cancer. We report a 50-year-old man who developed metastatic skin cancer in the form of semicircular indurated plaque on top of which was a firm mobile rounded nodule at the umbilical area. Histopathological examination demonstrated diastase-resistant periodic acid-Schiff and mucicarmine positive signet ring cells, suggesting gastric carcinoma. Immunohistochemical staining showed that these cells were positive for cytokeratins and epithelial membrane antigen, suggesting epithelial origin.

Sister chromatid exchanges and micronuclei analysis in lymphocytes of men exposed to simazine through drinking water.

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Suárez, Susanna; Rubio, Arantxa; Sueiro, Rosa Ana; Garrido, Joaquín

2003-06-06

In some cities of the autonomous community of Extremadura (south-west of Spain), levels of simazine from 10 to 30 ppm were detected in tap water. To analyse the possible effect of this herbicide, two biomarkers, sister chromatid exchanges (SCE) and micronuclei (MN), were used in peripheral blood lymphocytes from males exposed to simazine through drinking water. SCE and MN analysis failed to detect any statistically significant increase in the people exposed to simazine when compared with the controls. With respect to high frequency cells (HFC), a statistically significant difference was detected between exposed and control groups.

Asymmetry in family history implicates nonstandard genetic mechanisms: application to the genetics of breast cancer.

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Clarice R Weinberg

2014-03-01

Full Text Available Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, reflecting the maternal genome's influence on prenatal development; 2. mitochondrial variants, which are inherited maternally; 3. autosomal genes, whose effects depend on parent of origin. We algebraically show that small asymmetries in family histories of affected individuals may reflect much larger genetic risks acting via those mechanisms. We apply these ideas to a study of sisters of women with breast cancer. Among 5,091 distinct families of women reporting that exactly one grandmother had breast cancer, risk was skewed toward maternal grandmothers (p<0.0001, especially if the granddaughter was diagnosed between age 45 and 54. Maternal genetic effects, mitochondrial variants, or variant genes with parent-of-origin effects may influence risk of perimenopausal breast cancer.

Use of a ring chromosome and pulsed-field gels to study interhomolog recombination, double-strand DNA breaks and sister-chromatid exchange in yeast

International Nuclear Information System (INIS)

Game, J.C.; Sitney, K.C.; Cook, V.E.; Mortimer, R.K.

1989-01-01

The authors describe a system that uses pulsed-field gels for the physical detection of recombinant DNA molecules, double-strand DNA breaks (DSB) and sister-chromatid exchange in the yeast Saccharomyces cerevisiae. The system makes use of a circular variant of chromosome II (Chr. III). Meiotic recombination between this ring chromosome and a linear homolog produces new molecules of sizes distinguishable on gels from either parental molecule. They demonstrate that these recombinant molecules are not present either in strains with two linear Chr. III molecules or in rad50 mutants, which are defective in meiotic recombination. In conjunction with the molecular endpoints. They present data on the timing of commitment to meiotic recombination scored genetically. They have used x-rays to linearize circular Chr. III, both to develop a sensitive method for measuring frequency of DSB and as a means of detecting double-size circles originating in part from sister-chromatid exchange, which they find to be frequent during meiosis

Magmatic activity beneath the quiescent Three Sisters volcanic center, central Oregon Cascade Range, USA

Science.gov (United States)

Wicks, Charles W.; Dzurisin, Daniel; Ingebritsen, Steven; Thatcher, Wayne; Lu, Zhong; Iverson, Justin

2002-04-01

Images from satellite interferometric synthetic aperture radar (InSAR) reveal uplift of a broad ~10 km by 20 km area in the Three Sisters volcanic center of the central Oregon Cascade Range, ~130 km south of Mt. St. Helens. The last eruption in the volcanic center occurred ~1500 years ago. Multiple satellite images from 1992 through 2000 indicate that most if not all of ~100 mm of observed uplift occurred between September 1998 and October 2000. Geochemical (water chemistry) anomalies, first noted during 1990, coincide with the area of uplift and suggest the existence of a crustal magma reservoir prior to the uplift. We interpret the uplift as inflation caused by an ongoing episode of magma intrusion at a depth of ~6.5 km.

Early Development of Squamous Cell Carsinoma in Two Sister Cases with pidermodysplasia Verruciformis

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Ömer Çalka

2010-06-01

Full Text Available Epidermodysplasia verruciformis (Lewandowsky-Lutz syndrome is an uncommon disease characterized by multiple plane warts, pityriasis versicolor-like lesions, defects of cell-mediated immunity, and tendency to develop skin malignancies, primarily on sun-exposed areas. Most commonly it is inherited as an autosomal recessive trait. Squamous cell carcinoma is the most common type of skin cancer found in patient with epidermodysplasia verruciformis. Human papilloma virus 5, 8, and 47 are found in more than 90% of epidermodysplasia verruciformis skin cancers. Treatment for epidermodysplasia verruciformis consists largely of preventive measures. Photoprotection remains essential for management. In this report, two sister case of epidermodisplasia verruciformis with plane warts, pityriasis versicolor-like lesions, and squamous cell carcinomas on sun-exposed areas of skin was presented for it is a rarely encountered disease and associated with early development of malignancy.

Fear and loathing in Mississippi: the attack on cAMP sister spirit.

Science.gov (United States)

Greene, Kate

2003-01-01

SUMMARY In 1993, the small rural community of Ovett, Miss., and a group of self-described radical lesbian feminists clashed over the establishment by the women of a feminist educational retreat known as Camp Sister Spirit. This dispute took the form of physical and psychological harassment of the women, wide-open public debate in the community, in the press, and on television, federal mediation efforts, and two lawsuits. This article analyzes this dispute using Mary Daly's seven patterns of the sado-ritual syndrome (Daly, 1978). The analysis examines the ideological and moral standpoints of the participants, the issues of "blaming the victim" and scapegoating, the development of the conflict from a dispute between neighbors to the involvement of international media, national activists and the Clinton Administration, the transformation of the conflict from a political to legal dispute, the representations of the groups within the community and the media, the effect of public opinion on the dispute, and the politics of the media in the dispute.

STRANGERS IN THE SAME COUNTRY: THE COMPLEXITY OF SISTERLY SOLIDARITY IN CATHERINE FILLOUX’S THE BEAUTY INSIDE

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Eda DEDEBAŞ DÜNDAR

2017-06-01

Full Text Available Through the depiction of a sisterly solidarity and the priority of our responsibility for the other, French-American playwright Catherine Filloux’s play The Beauty Inside makes its audience bear witness not only to the tragedy of honor killings in Turkey but also to an amity that flourishes between a Westernized lawyer Devrim and a rape survivor Yalova introducing a form of familial bond that stems from our shared ethical space. With the help of its unique characters and stress on compassion, The Beauty Inside exemplifies an outstanding play that enhances the publicity of the theatre genre itself. This paper argues that through its rendering of two noteworthy characters from two conflicting sub-cultures of Turkey and their attempts to acknowledge their responsibility for the other, the play portrays a complex sisterhood that justifies the uplifting impact of face-to-face interaction and proposes a novel approach to humanitarianism in human rights theatre. Moreover, it accentuates travel, both as a physical expedition and a mental exploration, in its attempt to encounter the other and “the non-intentionality of consciousness” – to quote from Emmanuel Levinas. Divided in two major sections, this paper first discusses the theoretical perspectives surrounding travel theory and the concept of witnessing vulnerability and atrocities by referring to human rights theorists as well as Levinas’s concept of “face-to-face interaction” and then includes a close reading of The Beauty Inside as a distinguished play that aptly utilizes the theatre genre to serve a dual function: to publicize violations and to deliver an eye-opening alternative to our fear of the other by curtailing the proximity to the vulnerable.

The origins of species richness in the Hymenoptera: insights from a family-level supertree

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Davis Robert B

2010-04-01

Full Text Available Abstract Background The order Hymenoptera (bees, ants, wasps, sawflies contains about eight percent of all described species, but no analytical studies have addressed the origins of this richness at family-level or above. To investigate which major subtaxa experienced significant shifts in diversification, we assembled a family-level phylogeny of the Hymenoptera using supertree methods. We used sister-group species-richness comparisons to infer the phylogenetic position of shifts in diversification. Results The supertrees most supported by the underlying input trees are produced using matrix representation with compatibility (MRC (from an all-in and a compartmentalised analysis. Whilst relationships at the tips of the tree tend to be well supported, those along the backbone of the tree (e.g. between Parasitica superfamilies are generally not. Ten significant shifts in diversification (six positive and four negative are found common to both MRC supertrees. The Apocrita (wasps, ants, bees experienced a positive shift at their origin accounting for approximately 4,000 species. Within Apocrita other positive shifts include the Vespoidea (vespoid wasps/ants containing 24,000 spp., Anthophila + Sphecidae (bees/thread-waisted wasps; 22,000 spp., Bethylidae + Chrysididae (bethylid/cuckoo wasps; 5,200 spp., Dryinidae (dryinid wasps; 1,100 spp., and Proctotrupidae (proctotrupid wasps; 310 spp.. Four relatively species-poor families (Stenotritidae, Anaxyelidae, Blasticotomidae, Xyelidae have undergone negative shifts. There are some two-way shifts in diversification where sister taxa have undergone shifts in opposite directions. Conclusions Our results suggest that numerous phylogenetically distinctive radiations contribute to the richness of large clades. They also suggest that evolutionary events restricting the subsequent richness of large clades are common. Problematic phylogenetic issues in the Hymenoptera are identified, relating especially to

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

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Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat

2015-06-01

To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases. Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes. A young couple, both legally blind, requested genetic counselling regarding their ocular condition. The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. We report here a unique and rare clinical phenotype that is explained by the segregation of two severe inherited eye diseases. The clinical and genetic analysis in this family allowed them to receive accurate genetic counseling.

Inhibition of protein synthesis does not antagonize induction of UV-induced sister-chromatid exchange in xeroderma pigmentosum cells

International Nuclear Information System (INIS)

Sono, Akira; Sakaguchi, Kengo.

1988-01-01

Cycloheximide strongly antagonizes the induction of sisterchromatid exchanges by ethyl methanesulfonate or mitomycin C in human skin fibroblast and xeroderma pigmentosum cells (group A). Analogous behavior has been observed in several other species including Chinese hamster and plant cells. This report documents an exception to that pattern: cycloheximide fails to antagonize UV-induced sister chromatid exchange in xeroderma pigmentosum cells, whereas it does in normal human skin fibroblast cells. A genetic defect in these cells is postulated to alter the UV-mediated DNA recombination process. (author)

Sister chromatid exchanges induced in CHO cells by X-rays or 5.5 MeV neutrons

International Nuclear Information System (INIS)

Bocian, E.; Rosiek, O.; Sablinski, J.; Ziemba-Zoltowska, B.

1986-01-01

The induction of sister chromatid exchanges (SCEs) by X-rays (1-9 Gy) and 5.5 MeV neutrons (0.5-4 Gy) was studied in CHO cells. A dose-dependent increase of the frequency of SCE was found for both radiations when cells with BrdUrd substituted DNA were irradiated. The similar doubling dose, approx. 4 Gy, was found for X-rays and neutrons. The increase of the SCE frequency was not clearly dependent on the dose when cells with BrdUrd unsubstituted DNA were irradiated. In this case a dose of 4 Gy enhanced the SCE frequency only by the factor of 1.3. (author)

Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

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Dorsett, Dale

2006-01-01

The sister chromatid cohesion apparatus mediates physical pairing of duplicated chromosomes. This pairing is essential for appropriate distribution of chromosomes into the daughter cells upon cell division. Recent evidence shows that the cohesion apparatus, which is a significant structural component of chromosomes during interphase, also affects gene expression and development. The Cornelia de Lange (CdLS) and Roberts/SC phocomelia (RBS/SC) genetic syndromes in humans are caused by mutations affecting components of the cohesion apparatus. Studies in Drosophila suggest that effects on gene expression are most likely responsible for developmental alterations in CdLS. Effects on chromatid cohesion are apparent in RBS/SC syndrome, but data from yeast and Drosophila point to the likelihood that changes in expression of genes located in heterochromatin could contribute to the developmental deficits. PMID:16819604

Sister chromatid cohesion defects are associated with chromosome instability in Hodgkin lymphoma cells

International Nuclear Information System (INIS)

Sajesh, Babu V; Lichtensztejn, Zelda; McManus, Kirk J

2013-01-01

Chromosome instability manifests as an abnormal chromosome complement and is a pathogenic event in cancer. Although a correlation between abnormal chromosome numbers and cancer exist, the underlying mechanisms that cause chromosome instability are poorly understood. Recent data suggests that aberrant sister chromatid cohesion causes chromosome instability and thus contributes to the development of cancer. Cohesion normally functions by tethering nascently synthesized chromatids together to prevent premature segregation and thus chromosome instability. Although the prevalence of aberrant cohesion has been reported for some solid tumors, its prevalence within liquid tumors is unknown. Consequently, the current study was undertaken to evaluate aberrant cohesion within Hodgkin lymphoma, a lymphoid malignancy that frequently exhibits chromosome instability. Using established cytogenetic techniques, the prevalence of chromosome instability and aberrant cohesion was examined within mitotic spreads generated from five commonly employed Hodgkin lymphoma cell lines (L-1236, KM-H2, L-428, L-540 and HDLM-2) and a lymphocyte control. Indirect immunofluorescence and Western blot analyses were performed to evaluate the localization and expression of six critical proteins involved in the regulation of sister chromatid cohesion. We first confirmed that all five Hodgkin lymphoma cell lines exhibited chromosome instability relative to the lymphocyte control. We then determined that each Hodgkin lymphoma cell line exhibited cohesion defects that were subsequently classified into mild, moderate or severe categories. Surprisingly, ~50% of the mitotic spreads generated from L-540 and HDLM-2 harbored cohesion defects. To gain mechanistic insight into the underlying cause of the aberrant cohesion we examined the localization and expression of six critical proteins involved in cohesion. Although all proteins produced the expected nuclear localization pattern, striking differences in RAD21

Ancient fossil specimens of extinct species are genetically more distant to an outgroup than extant sister species are

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Huang, Shi

2009-01-01

There exists a remarkable correlation between genetic distance as measured by protein or DNA dissimilarity and time of species divergence as inferred from fossil records. This observation has provoked the molecular clock hypothesis. However, data inconsistent with the hypothesis have steadily accumulated in recent years from studies of extant organisms. Here the published DNA and protein sequences from ancient fossil specimens were examined to see if they would support the molecular clock hypothesis. The hypothesis predicts that ancient specimens cannot be genetically more distant to an outgroup than extant sister species are. Also, two distinct ancient specimens cannot be genetically more distant than their extant sister species are. The findings here do not conform to these predictions. Neanderthals are more distant to chimpanzees and gorillas than modern humans are. Dinosaurs are more distant to frogs than extant birds are. Mastodons are more distant to opossums than other placental mammals are. The genetic distance between dinosaurs and mastodons is greater than that between extant birds and mammals. Therefore, while the molecular clock hypothesis is consistent with some data from extant organisms, it has yet to find support from ancient fossils. Far more damaging to the hypothesis than data from extant organisms, which merely question the constancy of mutation rate, the study of ancient fossil organisms here challenges for the first time the fundamental premise of modern evolution theory that genetic distances had always increased with time in the past history of life on Earth. PMID:18600632

Atrichia congenita

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Marfatia Y

1991-01-01

Full Text Available Three sisters aged 10, 13 and 14, presented with absence of scalp and facial hair. The youngest sister had scalp hair at birth, but had hair fall later, while the other two did not have hair at birth. Three other siblings had normal long hair, and there was no family history of any similar condition. Examination showed complete absence of scalp, axillary and pubic hair in all the three sisters.

Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.

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Kevin H Eng

2018-02-01

Full Text Available Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant evidenced by transmission to a woman from her paternal grandmother via her father. We ascertained 3,499 grandmother/granddaughter pairs from the Familial Ovarian Cancer Registry at the Roswell Park Cancer Institute observing 892 informative pairs with 157 affected granddaughters. We performed germline X-chromosome exome sequencing on 186 women with ovarian cancer from the registry. The rate of cancers was 28.4% in paternal grandmother/granddaughter pairs and 13.9% in maternal pairs consistent with an X-linked dominant model (Chi-square test X2 = 0.02, p = 0.89 and inconsistent with an autosomal dominant model (X2 = 20.4, p<0.001. Paternal grandmother cases had an earlier age-of-onset versus maternal cases (hazard ratio HR = 1.59, 95%CI: 1.12-2.25 independent of BRCA1/2 status. Reinforcing the X-linked hypothesis, we observed an association between prostate cancer in men and ovarian cancer in his mother and daughters (odds ratio, OR = 2.34, p = 0.034. Unaffected mothers with affected daughters produced significantly more daughters than sons (ratio = 1.96, p<0.005. We performed exome sequencing in reported BRCA negative cases from the registry. Considering age-of-onset, one missense variant (rs176026 in MAGEC3 reached chromosome-wide significance (Hazard ratio HR = 2.85, 95%CI: 1.75-4.65 advancing the age of onset by 6.7 years. In addition to the well-known contribution of BRCA, we demonstrate that a genetic locus on the X-chromosome contributes to ovarian cancer risk. An X-linked pattern of inheritance has implications for genetic risk stratification. Women with an affected paternal grandmother and sisters of affected women are at increased risk for ovarian cancer. Further work is required to validate this variant and to characterize carrier families.

HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

Science.gov (United States)

Pinheiro, Maisa; Drigo, Sandra Aparecida; Tonhosolo, Renata; Andrade, Sonia C.S.; Marchi, Fabio Albuquerque; Jurisica, Igor; Kowalski, Luiz Paulo; Achatz, Maria Isabel; Rogatto, Silvia Regina

2017-01-01

Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative for the variant. Although the proband of the F3 with PTC was HABP2 wild type, three relatives presented the variant. Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E. These findings suggested no association of this variant with our familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes have pathogenic effects in the risk of familial PTC development. PMID:28402931

Extracting phylogenetic signal and accounting for bias in whole-genome data sets supports the Ctenophora as sister to remaining Metazoa.

Science.gov (United States)

Borowiec, Marek L; Lee, Ernest K; Chiu, Joanna C; Plachetzki, David C

2015-11-23

Understanding the phylogenetic relationships among major lineages of multicellular animals (the Metazoa) is a prerequisite for studying the evolution of complex traits such as nervous systems, muscle tissue, or sensory organs. Transcriptome-based phylogenies have dramatically improved our understanding of metazoan relationships in recent years, although several important questions remain. The branching order near the base of the tree, in particular the placement of the poriferan (sponges, phylum Porifera) and ctenophore (comb jellies, phylum Ctenophora) lineages is one outstanding issue. Recent analyses have suggested that the comb jellies are sister to all remaining metazoan phyla including sponges. This finding is surprising because it suggests that neurons and other complex traits, present in ctenophores and eumetazoans but absent in sponges or placozoans, either evolved twice in Metazoa or were independently, secondarily lost in the lineages leading to sponges and placozoans. To address the question of basal metazoan relationships we assembled a novel dataset comprised of 1080 orthologous loci derived from 36 publicly available genomes representing major lineages of animals. From this large dataset we procured an optimized set of partitions with high phylogenetic signal for resolving metazoan relationships. This optimized data set is amenable to the most appropriate and computationally intensive analyses using site-heterogeneous models of sequence evolution. We also employed several strategies to examine the potential for long-branch attraction to bias our inferences. Our analyses strongly support the Ctenophora as the sister lineage to other Metazoa. We find no support for the traditional view uniting the ctenophores and Cnidaria. Our findings are supported by Bayesian comparisons of topological hypotheses and we find no evidence that they are biased by long-branch attraction. Our study further clarifies relationships among early branching metazoan lineages

Differences in mycorrhizal communities between Epipactis palustris, E. helleborine and its presumed sister species E. neerlandica.

Science.gov (United States)

Jacquemyn, Hans; Waud, Michael; Lievens, Bart; Brys, Rein

2016-07-01

In orchid species that have populations occurring in strongly contrasting habitats, mycorrhizal divergence and other habitat-specific adaptations may lead to the formation of reproductively isolated taxa and ultimately to species formation. However, little is known about the mycorrhizal communities associated with recently diverged sister taxa that occupy different habitats. In this study, 454 amplicon pyrosequencing was used to investigate mycorrhizal communities associating with Epipactis helleborine in its typical forest habitat and with its presumed sister species E. neerlandica that almost exclusively occurs in coastal dune habitats. Samples of the phylogenetically more distant E. palustris, which co-occurred with E. neerlandica, were also included to investigate the role of habitat-specific conditions on mycorrhizal communities. A total of 105 operational taxonomic units (OTUs) of putative orchid mycorrhizal fungi were observed in the three studied species. The majority of these fungi were endophytic fungi of Helotiales and ectomycorrhizal fungi belonging to Thelephoraceae, Sebacinaceae and Inocybaceae. In addition, a large number of other ectomycorrhizal taxa were detected, including Cortinarius, Cenococcum, Tuber, Geopora, Wilcoxina, Meliniomyces, Hebeloma, Tricholoma, Russula and Peziza Mycorrhizal communities differed significantly between the three species, but differences were most pronounced between the forest species (E. helleborine) and the two dune slack species (E. neerlandica and E. palustris). The results clearly showed that recently diverged orchid species that occupy different habitats were characterized by significantly different mycorrhizal communities and call for more detailed experiments that aim at elucidating the contribution of habitat-specific adaptations in general and mycorrhizal divergence in particular to the process of speciation in orchids. © The Author 2016. Published by Oxford University Press on behalf of the Annals of Botany

Mobilising Mother Cabrini's Educational Practice: The Transnational Context of the London School of the Missionary Sisters of the Sacred Heart of Jesus 1898-1911

Science.gov (United States)

Williams, Maria Patricia

2015-01-01

A schoolteacher from Lombardy, Saint Frances Xavier Cabrini (1850-1917), founded the Institute of Missionary Sisters of the Sacred Heart of Jesus (MSC) in 1880. It was one of the 185 female religious institutes established in Italy in the nineteenth century. In the newly unified Italy, Cabrini found opportunities to formulate progressive Catholic…

COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY

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M. Mohammadi

1999-07-01

Full Text Available The clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother with Cockayne syndrome are described. The main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like appearance. Brain CT - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nuclei, in both patients. Vie brainstem auditory responses also showed increased hearing thresholds and absolute wave latencies, that were more prominent in the older sister. The older patient had a healthy twin sister with normal mental function and phenotypic appearance.

Ottia meiospora (Ottiaceae, Rhodophyta), a new genus and family endophytic within the thallus of Nothocladus (Batrachospermales, Rhodophyta).

Science.gov (United States)

Entwisle, Timothy J; Evans, Joshua R; Vis, Morgan L; Saunders, Gary W

2018-02-01

A new genus, Ottia, and family, Ottiaceae, are proposed within the Acrochaetiales to accommodate the uniseriate red algal endophyte of batrachspermalean taxa previously named Balbiania meiospora. Prior to this study, Balbiania investiens was transferred to its own family and order (Balbianiales) based on comparative DNA sequence data and a distinctive reproductive morphology. However, the second species described in this genus, B. meiospora, continued to be treated as a species of Audouinella (A. meiospora) pending further investigation. Phylogenetic analyses of sequence data confirmed only a distant relationship between the two endophytes, and a closer alliance of B. meiospora to Acrochaetiales. The data also showed that Ottia meiospora was the deepest diverging lineage in the Acrochaetiales, sister to all of the currently recognized genera and families. In this study, we review the classification of what we now call O. meiospora - reported from Australia, New Zealand and Brazil - based on sequence and morphological data. Morphological observations provided little clarity around the reproductive morphology or the life cycle of this endophyte of Nothocladus s. lat. found commonly in mainland Australia but, to date, less so in New Zealand. © 2017 Phycological Society of America.

Shakespeare’s Weird Sisters – In Between Outlandish Womanhood and Prophesing Moirae

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Avarvarei Simona Catrinel

2017-12-01

Full Text Available This study intends to map the meandering expression of otherness when womanhood constructs an epiphanic encounter with time and fortune. Hereinafter, hegemonic, oppressive masculinity meets peripheral, prophesying femininity in an intricate exercise of doing and becoming Shakespeare‘s Weird Sisters, forming a complex mythological construction, whose uniqueness arises from the duality of their personae, reflection of displaced femininity, somewhat grotesque, peripheral within the realm of marginality itself. They are not only weird expressions of the Other, they are the other self of themselves, as alter ego expressions. There is a constant, minutely woven border crossing that does not only (redefine the geometry of becoming, but it also permeates gender constructions, making femaleness look androgynous and ruthless. Foretelling dreams of glory, mightiness or summoning lost humanity, these three Parcae rewrite the myth of the androgynous and its story about the quest of the Other. It is this Other that will be explored from a variety of angles that speak of masculinity, femininity, sanity, irrationality, consciousness, unconsciousness, freewill and fate.

Increased sister chromatid cohesion and DNA damage response factor localization at an enzyme-induced DNA double-strand break in vertebrate cells.

LENUS (Irish Health Repository)

Dodson, Helen

2009-10-01

The response to DNA damage in vertebrate cells involves successive recruitment of DNA signalling and repair factors. We used light microscopy to monitor the genetic dependencies of such localization to a single, induced DNA double strand break (DSB) in vertebrate cells. We used an inducible version of the rare-cutting I-SceI endonuclease to cut a chromosomally integrated I-SceI site beside a Tet operator array that was visualized by binding a Tet repressor-GFP fusion. Formation of gamma-H2AX foci at a single DSB was independent of ATM or Ku70. ATM-deficient cells showed normal kinetics of 53Bp1 recruitment to DSBs, but Rad51 localization was retarded. 53Bp1 and Rad51 foci formation at a single DSB was greatly reduced in H2AX-null DT40 cells. We also observed decreased inter-sister chromatid distances after DSB induction, suggesting that cohesin loading at DSBs causes elevated sister chromatid cohesion. Loss of ATM reduced DSB-induced cohesion, consistent with cohesin being an ATM target in the DSB response. These data show that the same genetic pathways control how cells respond to single DSBs and to multiple lesions induced by whole-cell DNA damage.

Acute wood or coal exposure with carbon monoxide intoxication induces sister chromatid exchange

Energy Technology Data Exchange (ETDEWEB)

Ozturk, S.; Vatansever, S.; Cefle, K.; Palanduz, S.; Guler, K.; Erten, N.; Erk, O.; Karan, M.A.; Tascioglu, C. [University of Istanbul, Istanbul (Turkey). Istanbul Faculty of Medicine

2002-07-01

The object of this study was to investigate the genotoxic effect of acute overexposure to combustion products originating from coal or wood stoves in patients presenting with acute carbon monoxide intoxication. The authors analyzed the frequency of sister chromatid exchange and the carboxyhemoglobin concentration in 20 consecutive patients without a history of smoking or drug use who had been treated in the Emergency Care Unit of Istanbul Medical Faculty due to acute carbon monoxide intoxication. All of these cases were domestic accidents due to dysfunctioning coal or wood stoves. The results were compared with a control group of 20 nonsmoking, nondrug-using healthy individuals matched for age, sex, and absence of other chemical exposure. It was concluded that acute exposure to combustion products of wood or coal is genotoxic to DNA. Potential causes of genotoxicity include known mutagenic compounds present in coal or wood smoke and ash, oxygen radicals formed during combustion, as well as hypoxic and reperfusion injury mechanisms initiated by carbon monoxide intoxication.

Reconstruction of family-level phylogenetic relationships within Demospongiae (Porifera using nuclear encoded housekeeping genes.

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Malcolm S Hill

Full Text Available Demosponges are challenging for phylogenetic systematics because of their plastic and relatively simple morphologies and many deep divergences between major clades. To improve understanding of the phylogenetic relationships within Demospongiae, we sequenced and analyzed seven nuclear housekeeping genes involved in a variety of cellular functions from a diverse group of sponges.We generated data from each of the four sponge classes (i.e., Calcarea, Demospongiae, Hexactinellida, and Homoscleromorpha, but focused on family-level relationships within demosponges. With data for 21 newly sampled families, our Maximum Likelihood and Bayesian-based approaches recovered previously phylogenetically defined taxa: Keratosa(p, Myxospongiae(p, Spongillida(p, Haploscleromorpha(p (the marine haplosclerids and Democlavia(p. We found conflicting results concerning the relationships of Keratosa(p and Myxospongiae(p to the remaining demosponges, but our results strongly supported a clade of Haploscleromorpha(p+Spongillida(p+Democlavia(p. In contrast to hypotheses based on mitochondrial genome and ribosomal data, nuclear housekeeping gene data suggested that freshwater sponges (Spongillida(p are sister to Haploscleromorpha(p rather than part of Democlavia(p. Within Keratosa(p, we found equivocal results as to the monophyly of Dictyoceratida. Within Myxospongiae(p, Chondrosida and Verongida were monophyletic. A well-supported clade within Democlavia(p, Tetractinellida(p, composed of all sampled members of Astrophorina and Spirophorina (including the only lithistid in our analysis, was consistently revealed as the sister group to all other members of Democlavia(p. Within Tetractinellida(p, we did not recover monophyletic Astrophorina or Spirophorina. Our results also reaffirmed the monophyly of order Poecilosclerida (excluding Desmacellidae and Raspailiidae, and polyphyly of Hadromerida and Halichondrida.These results, using an independent nuclear gene set, confirmed

Reconstruction of family-level phylogenetic relationships within Demospongiae (Porifera) using nuclear encoded housekeeping genes.

Science.gov (United States)

Hill, Malcolm S; Hill, April L; Lopez, Jose; Peterson, Kevin J; Pomponi, Shirley; Diaz, Maria C; Thacker, Robert W; Adamska, Maja; Boury-Esnault, Nicole; Cárdenas, Paco; Chaves-Fonnegra, Andia; Danka, Elizabeth; De Laine, Bre-Onna; Formica, Dawn; Hajdu, Eduardo; Lobo-Hajdu, Gisele; Klontz, Sarah; Morrow, Christine C; Patel, Jignasa; Picton, Bernard; Pisani, Davide; Pohlmann, Deborah; Redmond, Niamh E; Reed, John; Richey, Stacy; Riesgo, Ana; Rubin, Ewelina; Russell, Zach; Rützler, Klaus; Sperling, Erik A; di Stefano, Michael; Tarver, James E; Collins, Allen G

2013-01-01

Demosponges are challenging for phylogenetic systematics because of their plastic and relatively simple morphologies and many deep divergences between major clades. To improve understanding of the phylogenetic relationships within Demospongiae, we sequenced and analyzed seven nuclear housekeeping genes involved in a variety of cellular functions from a diverse group of sponges. We generated data from each of the four sponge classes (i.e., Calcarea, Demospongiae, Hexactinellida, and Homoscleromorpha), but focused on family-level relationships within demosponges. With data for 21 newly sampled families, our Maximum Likelihood and Bayesian-based approaches recovered previously phylogenetically defined taxa: Keratosa(p), Myxospongiae(p), Spongillida(p), Haploscleromorpha(p) (the marine haplosclerids) and Democlavia(p). We found conflicting results concerning the relationships of Keratosa(p) and Myxospongiae(p) to the remaining demosponges, but our results strongly supported a clade of Haploscleromorpha(p)+Spongillida(p)+Democlavia(p). In contrast to hypotheses based on mitochondrial genome and ribosomal data, nuclear housekeeping gene data suggested that freshwater sponges (Spongillida(p)) are sister to Haploscleromorpha(p) rather than part of Democlavia(p). Within Keratosa(p), we found equivocal results as to the monophyly of Dictyoceratida. Within Myxospongiae(p), Chondrosida and Verongida were monophyletic. A well-supported clade within Democlavia(p), Tetractinellida(p), composed of all sampled members of Astrophorina and Spirophorina (including the only lithistid in our analysis), was consistently revealed as the sister group to all other members of Democlavia(p). Within Tetractinellida(p), we did not recover monophyletic Astrophorina or Spirophorina. Our results also reaffirmed the monophyly of order Poecilosclerida (excluding Desmacellidae and Raspailiidae), and polyphyly of Hadromerida and Halichondrida. These results, using an independent nuclear gene set

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

DEFF Research Database (Denmark)

Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats

2008-01-01

ABSTRACT: Background Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined...... of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA) developed colon...

The Amborella vacuolar processing enzyme family

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Valérie ePoncet

2015-08-01

Full Text Available Most vacuolar proteins are synthesized on rough endoplasmic reticulum as proprotein precursors and then transported to the vacuoles, where they are converted into their respective mature forms by vacuolar processing enzymes (VPEs. In the case of the seed storage proteins, this process is of major importance, as it conditions the establishment of vigorous seedlings. Toward the goal of identifying proteome signatures that could be associated with the origin and early diversification of angiosperms, we previously characterized the 11S-legumin-type of seed storage proteins from Amborella trichopoda, a rainforest shrub endemic to New Caledonia that is also the probable sister to all other angiosperms (Amborella Genome Project, 2013. In the present study, proteomic and genomic approaches were used to characterize the VPE family in this species. Three genes were found to encode VPEs in the Amborella’s genome. Phylogenetic analyses showed that the Amborella sequences grouped within two major clades of angiosperm VPEs, indicating that the duplication that generated the ancestors of these clades occurred before the most recent common ancestor of living angiosperms. A further important duplication within the VPE family appears to have occurred in common ancestor of the core eudicots, while many more recent duplications have also occurred in specific taxa, including both Arabidopsis thaliana and Amborella. An analysis of natural genetic variation for each of the three Amborella VPE genes revealed the absence of selective forces acting on intronic and exonic single-nucleotide polymorphisms among several natural Amborella populations of in New Caledonia.

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.

Science.gov (United States)

Imran, Syed Ali; Aldahmani, Khaled A; Penney, Lynette; Croul, Sidney E; Clarke, David B; Collier, David M; Iacovazzo, Donato; Korbonits, Márta

2018-01-01

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein ( AIP ) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.Unusual, previously not described AIP variant with loss of the stop codon.Phenocopy may occur in families with a disease-causing germline mutation.

MicroRNAs and phylogenomics resolve the relationships of Tardigrada and suggest that velvet worms are the sister group of Arthropoda.

Science.gov (United States)

Campbell, Lahcen I; Rota-Stabelli, Omar; Edgecombe, Gregory D; Marchioro, Trevor; Longhorn, Stuart J; Telford, Maximilian J; Philippe, Hervé; Rebecchi, Lorena; Peterson, Kevin J; Pisani, Davide

2011-09-20

Morphological data traditionally group Tardigrada (water bears), Onychophora (velvet worms), and Arthropoda (e.g., spiders, insects, and their allies) into a monophyletic group of invertebrates with walking appendages known as the Panarthropoda. However, molecular data generally do not support the inclusion of tardigrades within the Panarthropoda, but instead place them closer to Nematoda (roundworms). Here we present results from the analyses of two independent genomic datasets, expressed sequence tags (ESTs) and microRNAs (miRNAs), which congruently resolve the phylogenetic relationships of Tardigrada. Our EST analyses, based on 49,023 amino acid sites from 255 proteins, significantly support a monophyletic Panarthropoda including Tardigrada and suggest a sister group relationship between Arthropoda and Onychophora. Using careful experimental manipulations--comparisons of model fit, signal dissection, and taxonomic pruning--we show that support for a Tardigrada + Nematoda group derives from the phylogenetic artifact of long-branch attraction. Our small RNA libraries fully support our EST results; no miRNAs were found to link Tardigrada and Nematoda, whereas all panarthropods were found to share one unique miRNA (miR-276). In addition, Onychophora and Arthropoda were found to share a second miRNA (miR-305). Our study confirms the monophyly of the legged ecdysozoans, shows that past support for a Tardigrada + Nematoda group was due to long-branch attraction, and suggests that the velvet worms are the sister group to the arthropods.

In vivo persistence of sister chromatid exchanges (SCE) induced by gamma rays in mouse bone marrow cells

International Nuclear Information System (INIS)

Morales-Ramirez, P.; Vallarino-Kelly, T.; Rodriguez-Reyes, R.

1984-01-01

The sister chromatid exchange (SCE) frequencies induced in bone marrow cells by in vivo irradiation with gamma rays before or after bromodeoxyuridine (BrdUrd) incorporation were compared. The frequency of SCE at different postirradiation times was also measured in bone marrow cells in vivo, irradiated before BrdUrd incorporation. Increased sensitivity to SCE induction by radiation was found in cells after BrdUrd incorporation for one cycle when compared with cells irradiated before BrdUrd incorporation. The increased SCE frequency persisted for at least 72 hr after the initial irradiation, implying that the gamma ray-induced lesion(s) capable of eliciting an SCE are persistent and cannot be easily repaired

Can consumption of raw vegetables decrease the count of sister chromatid exchange? Results from a cross-sectional study in Krakow, Poland

OpenAIRE

Galas, Aleksander; Cebulska-Wasilewska, Antonina

2014-01-01

Background Sister chromatid exchange (SCE) is a widely used sensitive cytogenetic biomarker of exposure to genotoxic and cancerogenic agents. Results of human monitoring studies and cytogenetic damage have revealed that biological effects of genotoxic exposures are influenced by confounding factors related to life-style. Vegetable and fruit consumption may play a role, but available results are not consistent. The purpose of the study was to investigate the effect of consumption of raw and co...

Nuclear and Related Analytical Techniques Used to Study the Anthropogenic Impact on the Sister River in the Vicinity of the Town of Klin (Moscow Region, Russia)

CERN Document Server

Morzhukhina, S V; Chermnykh, L P; Khodakovsky, L P; Frontasyeva, M V; Gundorina, S F

2001-01-01

The ecological fate of small rivers, tributaries of the Volga River, is of great concern in the national program of the Russian Federation "Restoration of the Volga River". The results on the elaborated hydrochemical and saprobiological water examination of the Sister River are reported along with the results on the multielement chemical analysis of surface sediments in the catchment of the town of Klin (Moscow Region) known for its numerous industrial and chemical enterprises with heavy contaminant inputs. Epithermal neutron activation analysis was used to study heavy metals and other toxic elements in bottom sediments. A total of 42 elements including Pb, Cu, Cd and Hg were determined by polarography (method of inverse voltamperometry). Metal/Al rations which express the relative mobility of the elements follow the sequence: Fe > Mg > K > Na > Ca >> Zr > Mn > Zn = Sr > Cr > V > Ni = As > Co. Elevated concentrations of Cd, Pb, Zn and Cu in the bottom sediments of the Sister River reinforced us to determine t...

Amount of sister chromatid exchanges and survival of Chinese hamster V79-4 cells after irradiation with 0,7 MeV neutrons

International Nuclear Information System (INIS)

Lapidus, I.L.; Nasonova, E.A.

1987-01-01

The dependence of the survival and induction of sister chromatid exchanges (SCEs) in Chinese hamster V79-4 cells on the dose of γ-rays and neutrons with average energy 0.7 MeV has been analysed. The value of RBE for neutrons was 5.5. It has been shown that the number of SCE increased with the dose of γ-irradiation and no induction could be detected after neutron irradiation

Злобната жена во македонските народни семејни песни и македонската народна балада

OpenAIRE

Denkova, Jovanka; Celik, Mahmut

2011-01-01

In the Macedonian folk poetry, the woman’s character is most abundant in relation to other characters. Often, a woman is shown with a positive role. However, there are number of examples that are presenting her "dark" side. Moreover, the lyrical songs and ballads of the separated families and the personal and family relationships in which the most common image of the dark woman is the one of a stepmother, sister as a killer of other sister, mother- murderer, etc... The most impressive char...

Laparoscopic Scar: a mimicker of Sister Mary Joseph's nodule on positron emission tomography/CT

International Nuclear Information System (INIS)

Setty, B.; Blake, M.A.; Holalkere, N.S.; Blaszkowsky, L.S.; Fischman, A.

2006-01-01

Positron emission tomography/CT is an established imaging method in the diagnosis and staging of cancers. 18 F -fluoro-2-deoxy-D-glucose (FDG) is the most commonly used radiotracer in positron emission tomography/CT. It is a tumour viability agent and usually its uptake within a lesion reflects the presence of a viable tumour tissue. However, false-positive FDG uptake is known to occur in benign processes of either inflammatory or infectious aetiology. We describe FDG uptake at the site of laparoscopic scar that mimicked Sister Mary Joseph's nodule in a patient with gastric adenocarcinoma. Here, the knowledge of the patient's history and subtle imaging findings helped in accurate staging of the patient. In this case report, we emphasize the value of the knowledge of the patient history and awareness of different pitfalls of FDG to achieve a correct diagnosis on positron emission tomography/CT

The Australasian frog family Ceratobatrachidae in China, Myanmar and Thailand: discovery of a new Himalayan forest frog clade

Science.gov (United States)

YAN, Fang; JIANG, Ke; WANG, Kai; JIN, Jie-Qiong; SUWANNAPOOM, Chatmongkon; LI, Cheng; Jens, V. VINDUM; Rafe, M. BROWN; CHE, Jing

2016-01-01

In an effort to study the systematic affinities and specieslevel phylogenetic relationships of the enigmatic anurans variably assigned to the genera Ingerana or Limnonectes (family Dicroglossidae), we collected new molecular sequence data for five species including four Himalayan taxa, Limnonectes xizangensis, Lim. medogensis, Lim. alpine, Ingerana borealis and one southeast Asian species, I. tasanae, and analyzed these together with data from previous studies involving other ostensibly related taxa. Our surprising results demonstrate unequivocally that Lim. xizangensis, Lim. medogensis and Lim. alpine form a strongly supported clade, the sister-group of the family Australasian forest frog family Ceratobatrachidae. This discovery requires an expansion of the definition of Ceratobatrachidae and represents the first record of this family in China. These three species are distinguished from the species of Ingerana and Limnonectes by the: (1) absence of interdigital webbing of the foot, (2) absence of terminal discs on fingers and toes, (3) absence of circumarginal grooves on the fingers and toes, and (4) absence of tarsal folds. Given their phylogenetic and morphological distinctiveness, we assign them to the oldest available generic name for this clade, Liurana Dubois 1987, and transfer Liurana from Dicroglossidae to the family Ceratobatrachidae. In contrast, Ingerana tasanae was found to be clustered with strong support with the recently described genus Alcalus (Ceratobatrachidae), a small clade of otherwise Sundaic species; this constitutes a new record of the family Ceratobatrachidae for Myanmar and Thailand. Finally, Ingerana borealis clustered with the "true" Ingerana (family Dicroglossidae), for which the type species is I. tenasserimensis. PMID:26828029

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Science.gov (United States)

Kantaputra, Piranit N; Mundlos, Stefan; Sripathomsawat, Warissara

2010-11-01

Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cause of the syndrome. We report on two sisters in a Thai family with short and malformed long bones, absent fibulae, flexion contracture of digits, and a/hypoplastic nails. Fusion between severely malformed femora and slender tibiae has never been reported in patients with WNT7A mutations. Lower limbs were more severely malformed than the upper ones and the pelvis was also severely affected. Multiple fusions of long bones and of the femoral heads to the acetabula were evident. A novel homozygous missense mutation in coding exon 4 of the WNT7A was detected in both affected daughters (c.664C > T) leading to an amino acid exchange from arginine to tryptophan (p.Arg222Trp; R222W). The phenotype is likely to result from an abnormality of all three signaling centers in the developing limb resulting in ventralization with a loss of dorsal structures (aplasia/hypoplasia of nails) a loss of anterior-posterior identity (single distal bones in lower limb without polarity) and an outgrowth defect resulting in distal truncations. © 2010 Wiley-Liss, Inc.

Global analysis of threat status reveals higher extinction risk in tropical than in temperate bird sister species

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Reif Jiří

2016-06-01

Full Text Available Given increasing pressures upon biodiversity, identification of species’ traits related to elevated extinction risk is useful for more efficient allocation of limited resources for nature conservation. Despite its need, such a global analysis was lacking in the case of birds. Therefore, we performed this exercise for avian sister species using information about their global extinction risk from IUCN Red List. We focused on 113 pairs of sister species, each containing a threatened and an unthreatened species to factor out the effects of common evolutionary history on the revealed relationship. We collected data on five traits with expected relationships to species’ extinction risk based on previous studies performed at regional or national levels: breeding habitat (recognizing forest, grassland, wetland and oceanic species, latitudinal range position (temperate and tropics species, migration strategy (migratory and resident species, diet (carnivorous, insectivorous, herbivorous and omnivorous species and body mass. We related the extinction risk using IUCN threat level categories to species’ traits using generalised linear mixed effects models expecting lower risk for forest, temperate, omnivorous and smaller-bodied species. Our expectation was confirmed only in the case of latitudinal range position, as we revealed higher threat level for tropical than for temperate species. This relationship was robust to different methods of threat level expression and cannot be explained by a simple association of high bird species richness with the tropical zone. Instead, it seems that tropical species are more threatened because of their intrinsic characteristics such as slow life histories, adaptations to stable environments and small geographic ranges. These characteristics are obviously disadvantageous in conditions of current human-induced environmental perturbations. Moreover, given the absence of habitat effects, our study indicates that such

A novel MADS-box gene subfamily with a sister-group relationship to class B floral homeotic genes.

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Becker, A; Kaufmann, K; Freialdenhoven, A; Vincent, C; Li, M-A; Saedler, H; Theissen, G

2002-02-01

Class B floral homeotic genes specify the identity of petals and stamens during the development of angiosperm flowers. Recently, putative orthologs of these genes have been identified in different gymnosperms. Together, these genes constitute a clade, termed B genes. Here we report that diverse seed plants also contain members of a hitherto unknown sister clade of the B genes, termed B(sister) (B(s)) genes. We have isolated members of the B(s) clade from the gymnosperm Gnetum gnemon, the monocotyledonous angiosperm Zea mays and the eudicots Arabidopsis thaliana and Antirrhinum majus. In addition, MADS-box genes from the basal angiosperm Asarum europaeum and the eudicot Petunia hybrida were identified as B(s) genes. Comprehensive expression studies revealed that B(s) genes are mainly transcribed in female reproductive organs (ovules and carpel walls). This is in clear contrast to the B genes, which are predominantly expressed in male reproductive organs (and in angiosperm petals). Our data suggest that the B(s) genes played an important role during the evolution of the reproductive structures in seed plants. The establishment of distinct B and B(s) gene lineages after duplication of an ancestral gene may have accompanied the evolution of male microsporophylls and female megasporophylls 400-300 million years ago. During flower evolution, expression of B(s) genes diversified, but the focus of expression remained in female reproductive organs. Our findings imply that a clade of highly conserved close relatives of class B floral homeotic genes has been completely overlooked until recently and awaits further evaluation of its developmental and evolutionary importance. Electronic supplementary material to this paper can be obtained by using the Springer Link server located at http://dx.doi.org/10.1007/s00438-001-0615-8.

The importance of family caregiving to achieving palliative care at home: a case report of end-of-life breast cancer in an area struck by the 2011 Fukushima nuclear crisis: A case report.

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Ozaki, Akihiko; Tsubokura, Masaharu; Leppold, Claire; Sawano, Toyoaki; Tsukada, Manabu; Nemoto, Tsuyoshi; Kosugi, Kazuhiro; Nishikawa, Yoshitaka; Kato, Shigeaki; Ohira, Hiromichi

2017-11-01

The primary setting of palliative care has shifted from inpatient care to patients' residences. Family caregiving is essential for patients with life-limiting illnesses to receive palliative care at home, however little information is available regarding potential interventions to achieve palliative homecare for those without sufficient support from family members in various settings, including disasters. In March 2011, Fukushima, Japan experienced an earthquake, tsunami and nuclear disaster. In August 2015, a 59-year-old Japanese female presented to our hospital, located 23 km north of Fukushima Daiichi Nuclear Power Plant, with a right breast ulcer. The patient was diagnosed with stage IV breast cancer. The patient's general condition gradually worsened despite a one-year course of chemotherapy, and she became bedridden after a fall in October 2016. Although the patient wished to receive palliative homecare, this appeared challenging to achieve because she resided alone in a temporary housing shelter. Although she originally lived with her family in Odaka District, Fukushima, she relocated outside of the city following evacuation orders after the disaster. The evacuation orders for Odaka District were still in effect when she returned to the city alone in 2014. We contacted her sister who moved apart from her during the evacuation, and explained the necessity of family caregiving to enable her palliative homecare. The sister decided to move back to their original residence in Odaka District and live with the patient again. The patient successfully spent her end-of-life period and died at home. Health care providers and community health workers may need to take a pro-active approach to communicating with family members to draw informal support to enable patients' end-of-life management according to their values and preferences. This is a lesson which may be applicable to broader healthcare settings beyond cancer, or disaster contexts, considering that population

[The hemodialysed patient and his/her family caregiver. Comparison of perceptions of the chronic illness].

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Zanini, S; Ajmone, C; Margola, D; Busnach, G; Summa, I; Brunati, C; Cabibbe, M; Dal Col, A; De Ferrari, M E; Macaluso, M

2006-01-01

According to health psychology, the family caregiver (fc), i.e. the person who takes care of a hemodialysed patient, plays a pivotal role in coping with dialysis. This study explored and compared the lifestyle and the main needs of a cohort of hemodialysis patients, with reduced personal autonomy, to their fc, evaluating some psychological functional parameters, such as the perception of familial and social support, the psychological quality of life, the disability due to chronic illness, and the communication style. An anonymous multiple versions questionnaire, administered according to the caregiver's family relationship, was given for self assessment to 54 couples of patients and related fc (spouse, son/daughter and brother/sister), mean age 66 and 60, respectively; mean dialytic patients' age: 8 years and 6 months. The questionnaire consisted of three different sections, demographics, renal disease and psychological evaluation, with 4 standard scales (Social Support Satisfaction, Marital Communication, Psychological General Well-Being Index and Evaluation of Needs). A multivariate variance analysis (MANOVA) was subsequently performed. Women have a higher perception of their lifestyle change after dialysis, and, in general, patients communicate more easily with their fc than vice versa. Communication problems are more common in patients with a recent diagnosis. Patients and fc mostly need a better dialogue with their nephrologists and urge some psychological help. The quality of the relationship between physicians, patients and their families is a key element in the process of healing.

Complexities in the Provision of Respite Care to Family Carers of Persons with Intellectual Disabilities

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Frieda Finlay

2011-10-01

Full Text Available PurposeRespite care is generally thought to benefit family carers of persons with intellectual disabilities and is regarded as an important component of family-centred services.  However, the complexities associated with the provision of such services, from the carer’s perspective, have been rarely investigated.MethodThis qualitative research study was carried out through a participatory action research process that involved collaboration among researchers and family members as co-researchers.  Seven focus groups, involving seventy family carers (fifty mothers, fifteen fathers and five sisters, were held in seven locations across the Republic of Ireland. ResultsThree main themes dominated the discussions.  The first theme related to the ambivalence of carers towards using respite services, as expressed in their reluctance to relinquish care-giving for even a short period; the feelings of guilt they experienced; and the greater needs of other carers.  The second theme related to the benefits of respite breaks, but these were solely with respect to the carer and other family members, rather than to the person with an intellectual disability.  The third theme regarding the quality of provision was dominated by concerns for the care the person received in using the services. ConclusionsRespite care has the potential to make a difference, and these findings call for building much- needed alliances between all members of the family and professionals.  This is in order to support one another through the difficulties associated with the redesign of existing respite provision, and the extension of these services to the growing number of carers who require respite breaks.doi 10.5463/DCID.v22i2.22Key wordsIntellectual disability, respite, family members, Ireland 

Possible mechanisms of chromosomal aberrations: VII. Comparative dynamics of sister chromatid disjunction and realization of radiation-induced chromosomal aberrations during mitosis

International Nuclear Information System (INIS)

Lebedeva, L.I.; Akhmamet'eva, E.M.

1994-01-01

An increase in radiation-induced chromosomal aberrations during c-metaphase sister chromatid disjunction was demonstrated in murine bone marrow cells exposed to a total γ-irradiation at 0.5 Gy. Caffeine (Cf) treatment during mitosis partially suppressed the chromatid disjunction rate and increased the number of radiation-induced aberrations in this mitosis. Nalidixic acid (NA) treatment of c-metaphase cells completely suppressed chromatid disjunction and the realization of induced aberrations. Topoisomerase 2 was assumed to be involved during mitosis in both processes

Influence of irradiation at different stages of mitotic cycle upon production of sister chromatid exchanges in cultured Chinese hamster cells

International Nuclear Information System (INIS)

Antoshina, M.M.; Poryadkova, N.A.; Luchnik, N.V.

1982-01-01

Frequency of sister chromatid exchanges (SCE) and microexchanges in Chinese hamster cells has been studied by means of the method of differential staining of chromatids on irradiation at different stages of the mitotic cycle. It is shown that the irradiation enhances frequency of SCE and microexchanges if it is carried out before the end of DNA replication synthesis. Comparison of frequency depenedence of radiation-induced microexchanges and SCE at different stages of the mitotic cycle results in the conclusion that the microexchanges are none other than small SCE

Very low sister-chromatid exchange rate in Seventh-Day Adventists.

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Wulf, H C; Iversen, A S; Husum, B; Niebuhr, E

1986-08-01

42 Seventh-Day Adventists (SDAs) and 42 controls matched for sex, age and occupation had their sister-chromatid exchange (SCE) examined in peripheral blood lymphocytes. This was done to examine if the SCE frequency was lower in this group of people, who are known to have a decreased cancer risk compared to the general population. The average SCE/cell in 30 cells from each person was 5.54 +/- 0.07 (mean +/- standard error of the mean) for the SDAs and 8.00 +/- 0.15 for the controls, the difference being statistically significant (p less than 0.00001). No difference in SCE frequency was found between SDAs eating only an ovo-lacto-vegetarian diet and those eating some fish or meat. The mitotic index (MI) was significantly higher and the replication index (RI) was significantly lower in SDAs than in controls. No correlation was found between gamma (a statistical transformation of SCEs/cell) and MI or RI within the groups of SDAs or controls. In the pooled data there was a negative correlation of gamma and MI and a positive correlation of gamma and RI. Of the interpersonal variation in gamma 8% and 14% could be explained by MI and RI. The finding of a lower SCE frequency in a group of SDAs who have a low risk of cancer might indirectly indicate a relation between SCE and cancer and encourages further studies of SCE and diet.

Adolescent Siblings of Individuals with an Autism Spectrum Disorder: Testing a Diathesis-Stress Model of Sibling Well-Being

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Orsmond, Gael I.; Seltzer, Marsha Mailick

2009-01-01

The purpose of this study was to test a diathesis-stress model of well-being for siblings who have a brother or sister with an autism spectrum disorder (ASD). Data were collected from 57 adolescents and their mothers. Sisters reported higher levels of depressive and anxiety symptoms than brothers. Having a family history of ASDs was associated…

Divergence in male cricket song and female preference functions in three allopatric sister species.

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Hennig, Ralf Matthias; Blankers, Thomas; Gray, David A

2016-05-01

Multivariate female preference functions for male sexual signals have rarely been investigated, especially in a comparative context among sister species. Here we examined male signal and female preference co-variation in three closely related, but allopatric species of Gryllus crickets and quantified male song traits as well as female preferences. We show that males differ conspicuously in either one of two relatively static song traits, carrier frequency or pulse rate; female preference functions for these traits also differed, and would in combination enhance species discrimination. In contrast, the relatively dynamic song traits, chirp rate and chirp duty cycle, show minimal divergence among species and relatively greater conservation of female preference functions. Notably, among species we demonstrate similar mechanistic rules for the integration of pulse and chirp time scales, despite divergence in pulse rate preferences. As these are allopatric taxa, selection for species recognition per se is unlikely. More likely sexual selection combined with conserved properties of preference filters enabled divergent coevolution of male song and female preferences.

Phylogenomic analyses support the position of turtles as the sister group of birds and crocodiles (Archosauria)

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2012-01-01

Background The morphological peculiarities of turtles have, for a long time, impeded their accurate placement in the phylogeny of amniotes. Molecular data used to address this major evolutionary question have so far been limited to a handful of markers and/or taxa. These studies have supported conflicting topologies, positioning turtles as either the sister group to all other reptiles, to lepidosaurs (tuatara, lizards and snakes), to archosaurs (birds and crocodiles), or to crocodilians. Genome-scale data have been shown to be useful in resolving other debated phylogenies, but no such adequate dataset is yet available for amniotes. Results In this study, we used next-generation sequencing to obtain seven new transcriptomes from the blood, liver, or jaws of four turtles, a caiman, a lizard, and a lungfish. We used a phylogenomic dataset based on 248 nuclear genes (187,026 nucleotide sites) for 16 vertebrate taxa to resolve the origins of turtles. Maximum likelihood and Bayesian concatenation analyses and species tree approaches performed under the most realistic models of the nucleotide and amino acid substitution processes unambiguously support turtles as a sister group to birds and crocodiles. The use of more simplistic models of nucleotide substitution for both concatenation and species tree reconstruction methods leads to the artefactual grouping of turtles and crocodiles, most likely because of substitution saturation at third codon positions. Relaxed molecular clock methods estimate the divergence between turtles and archosaurs around 255 million years ago. The most recent common ancestor of living turtles, corresponding to the split between Pleurodira and Cryptodira, is estimated to have occurred around 157 million years ago, in the Upper Jurassic period. This is a more recent estimate than previously reported, and questions the interpretation of controversial Lower Jurassic fossils as being part of the extant turtles radiation. Conclusions These results

Phylogenomic analyses support the position of turtles as the sister group of birds and crocodiles (Archosauria

Directory of Open Access Journals (Sweden)

Chiari Ylenia

2012-07-01

Full Text Available Abstract Background The morphological peculiarities of turtles have, for a long time, impeded their accurate placement in the phylogeny of amniotes. Molecular data used to address this major evolutionary question have so far been limited to a handful of markers and/or taxa. These studies have supported conflicting topologies, positioning turtles as either the sister group to all other reptiles, to lepidosaurs (tuatara, lizards and snakes, to archosaurs (birds and crocodiles, or to crocodilians. Genome-scale data have been shown to be useful in resolving other debated phylogenies, but no such adequate dataset is yet available for amniotes. Results In this study, we used next-generation sequencing to obtain seven new transcriptomes from the blood, liver, or jaws of four turtles, a caiman, a lizard, and a lungfish. We used a phylogenomic dataset based on 248 nuclear genes (187,026 nucleotide sites for 16 vertebrate taxa to resolve the origins of turtles. Maximum likelihood and Bayesian concatenation analyses and species tree approaches performed under the most realistic models of the nucleotide and amino acid substitution processes unambiguously support turtles as a sister group to birds and crocodiles. The use of more simplistic models of nucleotide substitution for both concatenation and species tree reconstruction methods leads to the artefactual grouping of turtles and crocodiles, most likely because of substitution saturation at third codon positions. Relaxed molecular clock methods estimate the divergence between turtles and archosaurs around 255 million years ago. The most recent common ancestor of living turtles, corresponding to the split between Pleurodira and Cryptodira, is estimated to have occurred around 157 million years ago, in the Upper Jurassic period. This is a more recent estimate than previously reported, and questions the interpretation of controversial Lower Jurassic fossils as being part of the extant turtles radiation

Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

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Nakagawa, Naoki; Maruyama, Hiroki; Ishihara, Takayuki; Seino, Utako; Kawabe, Jun-ichi; Takahashi, Fumihiko; Kobayashi, Motoi; Yamauchi, Atsushi; Sasaki, Yukie; Sakamoto, Naka; Ota, Hisanobu; Tanabe, Yasuko; Takeuchi, Toshiharu; Takenaka, Toshihiro; Kikuchi, Kenjiro; Hasebe, Naoyuki

2011-01-01

Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with localized thinning in the basal posterior wall and late gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular magnetic resonance images and her sister had vasospastic angina pectoris without organic stenosis of the coronary arteries. LGE notably appeared in parallel with decreased α-galactosidase A activity and increased NT-pro BNP in our patients. We detected a new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution. Of the 10 family members, 5 family members each were positive and negative for this mutation. These new data extend our clinical and molecular knowledge of GLA gene mutations and confirm that a novel missense mutation in the GLA gene is important not only for a precise diagnosis of heterozygous status, but also for confirming relatives who are negative for this mutation.

A percepção de família em vítimas de abuso sexual intrafamiliar: estudo de caso

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Cátula Pelisoli

2014-08-01

Full Text Available This study had the objective of investigating the perceptions of family of two girls victims of intrafamilial sexual abuse. The participants were two twin sisters of 12 years old, abused by their grandfather, uncle and father. They responded to a semi-structured interview and to family instruments (Family System Test (FAST, Family Identification Test (FIT and Familiograma. The results indicate low familial cohesion, high hierarchy with explicit generational limits and low self-congruence. The two sisters showed identification with the abusers and consider the mother as a model for them. The affection was described toward each family member and varied from low to medium. The conflict varied from medium to high. The interview indicated an isolation tendency, low self-steam, aggressive attitudes, guilt feelings, fear and shame. The need for studies that provide an amplification of knowledge about the family’s dynamic involved in these cases is highlighted.

Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.

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van der Merwe, Pieter Du Toit; Rensburg, Megan A; Haylett, William L; Bardien, Soraya; Davids, M Razeen

2017-01-26

Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. The affected individuals and two unaffected first degree relatives were enrolled into the study. Phenotypes were evaluated through history, physical examination and biochemical analysis of blood and urine. Mutation screening was performed by sequencing of SLC12A3, and determining the allele frequencies of the sequence variants found in this family in 117 ethnically matched controls. The index patient, her sister, father and two aunts had a history of severe salt cravings, fatigue and tetanic episodes, leading to consumption of large quantities of salt and vinegar. All affected individuals demonstrated hypokalaemia with renal potassium wasting. Genetic analysis revealed that the pseudo-dominant pattern of inheritance was due to compound heterozygosity with two novel mutations: a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16. These variants were present in the five affected individuals, but only one variant each in the unaffected family members. Neither variant was found in any of the controls. The diagnosis of GS was established in five members of a South African family through clinical assessment, biochemical analysis and mutation screening of the SLC12A3 gene, which identified two novel putative pathogenic mutations.

A percepção de família em vítimas de abuso sexual intrafamiliar: estudo de caso

Directory of Open Access Journals (Sweden)

Cátula Pelisoli

2007-01-01

Full Text Available This study had the objective of investigating the perceptions of family of two girls victims of intrafamilial sexual abuse. The participants were two twin sisters of 12 years old, abused by their grandfather, uncle and father. They responded to a semi-structured interview and to family instruments (Family System Test (FAST, Family Identification Test (FIT and Familiograma. The results indicate low familial cohesion, high hierarchy with explicit generational limits and low self-congruence. The two sisters showed identification with the abusers and consider the mother as a model for them. The affection was described toward each family member and varied from low to medium. The conflict varied from medium to high. The interview indicated an isolation tendency, low self-steam, aggressive attitudes, guilt feelings, fear and shame. The need for studies that provide an amplification of knowledge about the family¿s dynamic involved in these cases is highlighted.

28 CFR 570.42 - Non-medical escorted trips.

Science.gov (United States)

2010-07-01

... member of an inmate's immediate family. For purposes of this rule, immediate family refers to mother, father, brother, sister, spouse, children, step-parents, and foster parents. (2) Non-emergency, non... persons (e.g., attending physician, hospital staff, funeral home staff, family members, U.S. Probation...

The Story of Women

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Grady, Marilyn L.

2008-01-01

In this article, the author shares Elizabeth Ann Seton's story as a woman's story. Seton was born in 1774 to a New York family. Through her work in Maryland, Seton was credited with being the founder of the parochial Catholic school system in the U.S. Seton formed a group of sisters known as the Sisters of Charity of St. Joseph. The sisters…

The relationship of psychosocial factors to mammograms, physical activity, and fruit and vegetable consumption among sisters of breast cancer patients

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Hartman SJ

2011-08-01

Full Text Available Sheri J Hartman1, Shira I Dunsiger1, Paul B Jacobsen21Centers for Behavioral and Preventive Medicine, The Miriam Hospital and W Alpert Medical School of Brown University, Providence, RI; 2Department of Health Outcomes and Behavior, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USAAbstract: This study examined the relationship of psychosocial factors to health-promoting behaviors in sisters of breast cancer patients. One hundred and twenty sisters of breast cancer patients completed questionnaires assessing response efficacy of mammography screenings, physical activity, and fruit and vegetable consumption on decreasing breast cancer risk, breast cancer worry, involvement in their sister’s cancer care, mammography screenings, physical activity, and fruit and vegetable consumption. Results indicate that greater perceived effectiveness for mammograms was associated with a 67% increase in odds of yearly mammograms. Greater involvement in the patient’s care was associated with a 7% decrease in odds of yearly mammograms. Greater perceived effectiveness for physical activity was significantly related to greater physical activity. There was a trend for greater perceived effectiveness for fruits and vegetables to be associated with consuming more fruits and vegetables. Breast cancer worry was not significantly associated with the outcomes. While perceived effectiveness for a specific health behavior in reducing breast cancer risk was consistently related to engaging in that health behavior, women reported significantly lower perceived effectiveness for physical activity and fruits and vegetables than for mammograms. Making women aware of the health benefits of these behaviors may be important in promoting changes.Keywords: breast cancer risk, mammograms, physical activity, diet, perceived effectiveness

Drosophila TDP-43 RNA-Binding Protein Facilitates Association of Sister Chromatid Cohesion Proteins with Genes, Enhancers and Polycomb Response Elements.

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Amanda Swain

2016-09-01

Full Text Available The cohesin protein complex mediates sister chromatid cohesion and participates in transcriptional control of genes that regulate growth and development. Substantial reduction of cohesin activity alters transcription of many genes without disrupting chromosome segregation. Drosophila Nipped-B protein loads cohesin onto chromosomes, and together Nipped-B and cohesin occupy essentially all active transcriptional enhancers and a large fraction of active genes. It is unknown why some active genes bind high levels of cohesin and some do not. Here we show that the TBPH and Lark RNA-binding proteins influence association of Nipped-B and cohesin with genes and gene regulatory sequences. In vitro, TBPH and Lark proteins specifically bind RNAs produced by genes occupied by Nipped-B and cohesin. By genomic chromatin immunoprecipitation these RNA-binding proteins also bind to chromosomes at cohesin-binding genes, enhancers, and Polycomb response elements (PREs. RNAi depletion reveals that TBPH facilitates association of Nipped-B and cohesin with genes and regulatory sequences. Lark reduces binding of Nipped-B and cohesin at many promoters and aids their association with several large enhancers. Conversely, Nipped-B facilitates TBPH and Lark association with genes and regulatory sequences, and interacts with TBPH and Lark in affinity chromatography and immunoprecipitation experiments. Blocking transcription does not ablate binding of Nipped-B and the RNA-binding proteins to chromosomes, indicating transcription is not required to maintain binding once established. These findings demonstrate that RNA-binding proteins help govern association of sister chromatid cohesion proteins with genes and enhancers.

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

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Syed Ali Imran

2018-01-01

Full Text Available Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy.

Edith (1869-1938) and Florence (1870-1932) Stoney, two Irish sisters and their contribution to radiology during the World War I.

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Guy, Jean M

2013-05-01

Edith and Florence Stoney, two sisters born in Dublin and working in London, responded to the summons of suffragists and offered themselves for medical service in World War I. Each had a strong scientific background and experience that they were able to use in setting up and running radiological services in Belgium, France, Serbia and Macedonia. The British War Office was reluctant to employ women doctors but the work Florence and her colleagues achieved persuaded Sir Alfred Keogh that Florence should be the first woman doctor to be employed in a military hospital in England.

Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

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Tse, Lap Ah; Li, Mengjie; Chan, Wing-cheong; Kwok, Chi-hei; Leung, Siu-lan; Wu, Cherry; Yu, Ignatius Tak-sun; Yu, Wai-cho; Lao, Xiangqian; Wang, Xiaorong; Wong, Carmen Ka-man; Lee, Priscilla Ming-yi; Wang, Feng; Yang, Xiaohong Rose

2015-01-01

The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+) type. Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings) were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age) and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated. Altogether 52 (6.96%) breast cancer cases and 23 (2.95%) controls was found that the patients' one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR) of 2.41 (95%CI: 1.45-4.02). An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38-4.28), with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46-10.79) than an affected sister (OR = 2.06, 95%CI: 1.07-3.97), while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives. This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired.

Celiac disease (CD), ulcerative colitis (UC), and primary sclerosing cholangitis (PSC) in one patient: a family study Enfermedad celiaca (EC), colitis ulcerosa (CU) y colangitis esclerosante primaria (CEP) asociadas en el mismo paciente: estudio familiar

OpenAIRE

V. Cadahía; L. Rodrigo; D. Fuentes; S. Riestra; R. de Francisco; M. Fernández

2005-01-01

We discuss the case of a 17-year-old male who at the age of 7 was diagnosed with celiac disease (CD) together with ulcerative colitis (UC) and primary sclerosing cholangitis (PSC). The patient was treated with gluten-free diet and immunosuppressive drugs (azathioprine), and currently remains asymptomatic. The patient's younger, 12-year-old sister was diagnosed with CD when she was 1.5 years old, and at 7 years she developed type-I diabetes mellitus, which was difficult to control. A family st...

A Clarion Call for Social Work Attention: Brothers and Sisters of Persons With Acquired Brain Injury in the United States.

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Degeneffe, Charles Edmund

2016-08-11

This article presents a clarion call for increased social work attention to the needs of siblings of persons with acquired brain injury (ABI) in the United States. The article overviews how siblings are psychosocially affected, how they provide care to the injured brothers and sisters, and how they personally develop as a result of their experiences. The article highlights the fact that social workers and other professionals often overlook the needs of siblings of persons with ABI and makes an appeal for social workers to advance clinical practice and research to benefit this often neglected population.

12 CFR 711.2 - Definitions.

Science.gov (United States)

2010-01-01

... immediate family. “Immediate family” means spouse, mother, father, child, grandchild, sister, brother, or... her immediate family, whose shares are necessary to constitute the group owns a nominal percentage of... family income for the metropolitan statistical area (MSA), if a depository organization is located in an...

Biodiversity and molecular phylogeny of Australian Clevelandella species (Class Armophorea, Order Clevelandellida, Family Clevelandellidae), intestinal endosymbiotic ciliates in the wood-feeding roach Panesthia cribrata Saussure, 1864.

Science.gov (United States)

Lynn, Denis H; Wright, André-Denis G

2013-01-01

There are over 100 species in the Order Clevelandellida distributed in many hosts. The majority is assigned to one of the five families, the Nyctotheridae. Our knowledge of clevelandellid genetic diversity is limited to species of Nyctotherus and Nyctotheroides. To increase our understanding of clevelandellid genetic diversity, species were isolated from intestines of the Australian wood-feeding roach Panesthia cribrata Saussure, 1864 from August to October, 2008. Four morphospecies, similar to those reported in Java and Japan by Kidder [Parasitologica, 29:163-205], were identified: Clevelandella constricta, Clevelandella nipponensis, Clevelandella parapanesthiae, and Clevelandella panesthiae. Small subunit rRNA gene sequences assigned all species to a "family" clade that was sister to the clade of species assigned to the Family Nyctotheridae in the Order Clevelandellida. Genetics and morphology were consistent for the first three Clevelandella species, but isolates assigned to C. panesthiae were assignable to three different genotypes, suggesting that this may be a cryptic species complex. © 2013 The Author(s) Journal of Eukaryotic Microbiology © 2013 International Society of Protistologists.

Morphea-like localized involutional lipoatrophy—a case report associated with family history

Directory of Open Access Journals (Sweden)

Cheng-Huang Chang

2010-09-01

Full Text Available Localized involutional lipoatrophy is a rare, sporadic disease with female tendency and characterized by focal loss of adipose tissue. We report two sisters, aged 8 years and 6 years, who developed asymptomatic depressive areas on the upper left arm and upper right arm, respectively. Cutaneous sonography showed slight thickening of the dermis and remarkably decreased thickness of the cutaneous fat tissue. Histopathology of a biopsy specimen from the elder sister revealed an increase in homogenized collagen bundles and entrapment of eccrine glands high in the dermis, as well as small to medium-sized lipocytes with a scarcity of inflammatory cells.

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Directory of Open Access Journals (Sweden)

Wen-Chen Liang

2007-01-01

Full Text Available Emery-Dreifuss muscular dystrophy (EDMD is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD family, including a mother and two daughters, and found a novel mutation in codon 520 in exon 9 of the lamin A/C (LMNA gene, resulting in a substitution of tryptophan (W by glycine (G in all three patients. The mother died after a stroke-like episode at the age of 43. The elder sister received pacemaker implantation, which improved symptoms of exercise intolerance and dizziness. These cases illustrate the necessity of correct diagnosis, evaluation, and follow-up of cardiac problems due to the wide clinical spectrum and high prevalence of cardiac conduction block in patients with autosomal dominant EDMD. [J Formos Med Assoc 2007;106(2 Suppl:S27-S31

Role of oxygen free radicals in the induction of sister chromatid exchanges by cigarette smoke

International Nuclear Information System (INIS)

Lee, C.K.; Brown, B.G.; Rice, W.Y. Jr.; Doolittle, D.J.

1989-01-01

Cigarette smoke has been reported to contain free radicals and free radical generators in both the gas and particulate phases. Studies in our laboratory have shown that both cigarette smoke condensate (CSC) and smoke bubbled through phosphate buffered saline solution (smoke-PBS) increased sister chromatid exchanges (SCE) in Chinese hamster ovary cells in a dose-dependent manner. Since oxygen free radicals have been shown to cause SCEs and other chromosomal damage, we investigated the role of these radicals in the induction of SCEs by CSC and smoke-PBS. Addition of the antioxidant enzymes catalase and superoxide dismutase or the oxygen-radical scavenger ascorbic acid failed to reduce the SCE frequency in the presence of either CSC or smoke-PBS. Additional studies indicated that the quantity of hydrogen peroxide produced in CSC or smoke-PBS is too small to account for the observed SCE induction. It appears, therefore, that SCE induction by CSC or smoke-PBS does not involve the participation of oxygen free radicals

32 CFR 147.4 - Guideline B-Foreign influence.

Science.gov (United States)

2010-07-01

... determination that the immediate family member(s) (spouse, father, mother, sons, daughters, brothers, sisters... individual's immediate family, including cohabitants and other persons to whom he or she may be bound by...: (1) An immediate family member, or a person to whom the individual has close ties of affection or...

[A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy].

Science.gov (United States)

Matsuoka, Takeshi; Furuya, Hirokazu; Ikezoe, Koji; Murai, Hiroyuki; Ohyagi, Yasumasa; Yoshiura, Takashi; Sasaki, Masayuki; Tobimatsu, Syozo; Kira, Jun-ichi

2004-01-01

We report a 20-year-old man with temporal lobe epilepsy (TLE) accompanied by hereditary motor and sensory neuropathy (HMSN). He had experienced complex partial seizures (CPS), which started with a nausea-like feeling, followed by loss of consciousness and automatism, since he was 6 years old. The frequency of attacks was at first decreased by phenytoin. However, attacks increased again when he was 18 years old. On admission, neurological examination showed mild weakness of the toes, pes cavus, hammer toe and mildly impaired vibratory sensation in his legs. Ten people in four generations of his family showed a history of epilepsy in the autosomal dominant inheritance form. His younger sister and mother had a history of epilepsy accompanied with pes cavus, hammer toe, weakness of toe and finger extension and mildly impaired vibratory sensation as well. Direct sequencing of the glioma-inactivated leucine-rich gene (LGI1), in which several mutations were reported in patients with familial lateral temporal lobe epilepsy, showed no specific mutation in this family. On consecutive video-EEG monitoring, paroxysmal rhythmic activity was confirmed in his left fronto-temporal region when he showed automatism, and then a generalized slow burst activity was detected when he lost consciousness. For his seizures, TLE with secondary generalization was diagnosed. In the nerve conduction study, delayed nerve conduction, distal motor latency and decreased amplitudes of the compound muscle action potentials (CMAP) of bilateral peroneal nerves were observed, indicating the existence of mild axonal degeneration. Based on these data, we consider that this family to be a new phenotype of autosomal dominant TLE accompanied by motor and sensory neuropathy.

Physical Function in an Aging Population in Rural South Africa: Findings From HAALSI and Cross-National Comparisons With HRS Sister Studies.

Science.gov (United States)

Payne, Collin F; Gómez-Olivé, Francesc Xavier; Kahn, Kathleen; Berkman, Lisa

2017-07-01

We use recently-collected data from the Health and Aging in Africa: a Longitudinal Study of an INDEPTH Community in South Africa (HAALSI) cohort from Agincourt, South Africa, to describe physical functioning in this aging population, and place the overall level and age-trajectories of physical health in the context of other Health and Retirement Study (HRS) sister studies in low- and middle-income countries (LMICs). We conduct multiple regression to estimate associations of physical functioning assessed from both self-report (activities of daily living [ADL] limitation, self-reported health) and performance (grip strength, gait speed) with socio-demographic and health characteristics in HAALSI, and use fully-interacted regression models to compare age-patterns of physical functioning outcomes cross-nationally. Gender differences in self-reported health are minimal, and men had 30% higher odds of being ADL limited controlling for socio-demographic and health characteristics. Measured physical performance is closely tied with socioeconomic conditions, but self-reported measures have a much smaller or weaker socioeconomic gradient. In international age-adjusted comparisons, the HAALSI sample had lower physical performance outcomes than most comparison populations. As the first HRS sister study undertaken in Africa, HAALSI adds vital information on population aging and health in the region. Continuing waves of HAALSI data will be a key resource for understanding differences in the complex processes of disability across LMIC contexts. © The Author 2017. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Strategy for Fuel Rod Receipt, Characterization, Sample Allocation for the Demonstration Sister Rods

Energy Technology Data Exchange (ETDEWEB)

Marschman, Steven C. [Idaho National Lab. (INL), Idaho Falls, ID (United States); Warmann, Stephan A. [Portage, Inc., Idaho Falls, ID (United States); Rusch, Chris [NAC International, Inc., Norcross, GA (United States)

2014-03-01

, inert gas backfilling, and transfer to an Independent Spent Fuel Storage Installation (ISFSI) for multi-year storage. To document the initial condition of the used fuel prior to emplacement in a storage system, “sister ” fuel rods will be harvested and sent to a national laboratory for characterization and archival purposes. This report supports the demonstration by describing how sister rods will be shipped and received at a national laboratory, and recommending basic nondestructive and destructive analyses to assure the fuel rods are adequately characterized for UFDC work. For this report, a hub-and-spoke model is proposed, with one location serving as the hub for fuel rod receipt and characterization. In this model, fuel and/or clad would be sent to other locations when capabilities at the hub were inadequate or nonexistent. This model has been proposed to reduce DOE-NE’s obligation for waste cleanup and decontamination of equipment.

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.

Effects of prenatal alcohol and cigarette exposure on offspring substance use in multiplex, alcohol-dependent families.

Science.gov (United States)

O'Brien, Jessica W; Hill, Shirley Y

2014-12-01

Prenatal exposures to alcohol, cigarettes, and other drugs of abuse are associated with numerous adverse consequences for affected offspring, including increased risk for substance use and abuse. However, maternal substance use during pregnancy appears to occur more often in those with a family history of alcohol dependence. Utilizing a sample that is enriched for familial alcohol dependence and includes controls selected for virtual absence of familial alcohol dependence could provide important information on the relative contribution of familial risk and prenatal exposures to offspring substance use. A sample of multigenerational families specifically ascertained to be at either high or low risk for developing alcohol dependence (AD) provided biological offspring for a longitudinal prospective study. High-risk families were selected based on the presence of 2 alcohol-dependent sisters. Low-risk families were selected on the basis of minimal first and second-degree relatives with AD. High-risk (HR = 99) and Low-risk offspring (LR = 110) were assessed annually during childhood and biennially in young adulthood regarding their alcohol, drug, and cigarette use. At the first childhood visit, mothers were interviewed concerning their prenatal use of substances. High-risk mothers were more likely to use alcohol, cigarettes, and other drugs during pregnancy than low-risk control mothers, and to consume these substances in greater quantities. Across the sample, prenatal exposure to alcohol was associated with increased risk for both offspring cigarette use and substance use disorders (SUD), and prenatal cigarette exposure was associated with increased risk for offspring cigarette use. Controlling for risk status by examining patterns within the HR sample, prenatal cigarette exposure remained a specific predictor of offspring cigarette use, and prenatal alcohol exposure was specifically associated with increased risk for offspring SUD. Women with a family history of

Nuclear and related analytical techniques used to study the anthropogenic impact on the Sister River in the vicinity of the town of Klin (Moscow Region, Russia)

International Nuclear Information System (INIS)

Morzhukhina, S.V.; Uspenskaya, V.V.; Chermnykh, L.P.; Khodakovskij, I.L.; Frontas'eva, M.V.; Gundorina, S.F.

2001-01-01

The ecological fate of small rivers, tributaries of the Volga River, is of great concern in the national program of the Russian Federation 'Restoration of the Volga River'. The results on the elaborated hydrochemical and saprobiological water examination of the Sister River are reported along with the results on the multielement chemical analysis of surface sediments in the catchment of the town of Klin (Moscow Region) known for its numerous industrial and chemical enterprises with heavy contaminant inputs. Epithermal neutron activation analysis was used to study heavy metals and other toxic elements in bottom sediments. A total of 42 elements including Pb, Cu, Cd and Hg were determined by polarography (method of inverse voltamperometry). Metal/Al rations which express the relative mobility of the elements follow the sequence: Fe > Mg > K > Na > Ca >> Zr > Mn > Zn = Sr > Cr > V > Ni = As > Co. Elevated concentrations of Cd, Pb, Zn and Cu in the bottom sediments of the Sister River reinforced us to determine their chemical forms using fractionation scheme. Cadmium is mostly associated with carbonate content and thus has a possibility of becoming readily bioavailable. Its toxicity and bioavailability poses a serious problem to ecosystem. Copper and zinc besides having less environmental risk are present in forms in which they cannot be easily leached out. Accumulation of toxic metals, arsenic and oil products are of potential hazard for the secondary pollution of the surface waters. It is shown that the main sources of pollution in the vicinity of the town of Klin are the domestic sewage waters and sewage waters from the chemical complex 'Klin-Fiber' producing synthetic materials. The extremes of the distribution patterns of pollutants in the bottom sediments and water are to be found approximately 50 km down the stream from the discharge sources. The second source of geochemical anomaly is located upstream of the Sister River, before the town of Klin

Higher and lower-level relationships of the deep-sea fish order Alepocephaliformes (Teleostei: Otocephala) inferred from whole mitogenome sequences

DEFF Research Database (Denmark)

Poulsen, Jan Yde; Møller, Peter Rask; Lavoué, Sébastien

2009-01-01

, Cypriniformes, Characiformes, Siluriformes and Gymnotiformes). The disputed family Bathylaconidae was found to be an artificial assemblage of the two genera Bathylaco and Herwigia, with the former as the sister group of the family Alepocephalidae and the latter nested within Alepocephalidae. Platytroctidae...

Primary Ovarian Insufficiency (POI)

Science.gov (United States)

... can affect a woman's risk for POI: Family history. Women who have a mother or sister with POI ... have the disorder. About 10% to 20% of women with POI have a family history of the condition. 5 Genes. Some changes to ...

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

Science.gov (United States)

Rabe, P; Haverkamp, F; Emons, D; Rosskamp, R; Zerres, K; Passarge, E

1991-12-01

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Science.gov (United States)

Guarnieri, Vito; Seaberg, Raewyn M; Kelly, Catherine; Jean Davidson, M; Raphael, Simon; Shuen, Andrew Y; Baorda, Filomena; Palumbo, Orazio; Scillitani, Alfredo; Hendy, Geoffrey N; Cole, David E C

2017-08-03

Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and daughter had hyperparathyroidism (parathyroid adenoma) but no other manifestations of HPT-JT. CDC73 mutation analysis (sequencing of all 17 exons) and whole-genome copy number variation (CNV) analysis was done on leukocyte DNA of the three affecteds as well as the proband's unaffected sister. A novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated with the deletion was identified. By in vitro assay the 5'UTR insertion was shown to significantly impair the expression of the parafibromin protein. Screening for the mutated CDC73 confirmed carrier status in the proband's daughter and the biochemistry and ultrasonography led to pre-emptive surgery and resolution of the hyperparathyroidism. A novel gross deletion mutation in CDC73 was identified in a three-generation HPT-JT family emphasizing the importance of including screening for large deletions in the molecular diagnostic protocol.

[The sibling status effects and the personality scales of the MMPI].

Science.gov (United States)

Hama, H; Mine, H; Mine, H; Matsuyama, Y

1987-06-01

The purpose of this study is to find out if the personalities of siblings are similar or different. Subjects used were Doshisha University students and members of their families, provided those families had only two children. Altogether 29 pairs of boys and their younger brothers, 47 pairs of boys and their younger sisters, 44 pairs of girls and their younger brothers, and 51 pairs of girls and their younger sisters were given the MMPI individually. Sibling status effects were found in many of the MMPI scores according to the type of sibling dyads and birth order, especially for the sibling dyad of elder brother and younger sister. Personality relationships between the first and second child showed that there were significant correlations in many MMPI scales: L, K, Pd, Pa, Pt, Sc, Si, Conflict resolution, Manifest anxiety, Repression-Sensitization, and Hostility. Among the four types of sibling dyad, the pairs of girls and their younger brothers showed the highest correlation in their personality.

An alu-based phylogeny of lemurs (infraorder: Lemuriformes.

Directory of Open Access Journals (Sweden)

Adam T McLain

Full Text Available LEMURS (INFRAORDER: Lemuriformes are a radiation of strepsirrhine primates endemic to the island of Madagascar. As of 2012, 101 lemur species, divided among five families, have been described. Genetic and morphological evidence indicates all species are descended from a common ancestor that arrived in Madagascar ∼55-60 million years ago (mya. Phylogenetic relationships in this species-rich infraorder have been the subject of debate. Here we use Alu elements, a family of primate-specific Short INterspersed Elements (SINEs, to construct a phylogeny of infraorder Lemuriformes. Alu elements are particularly useful SINEs for the purpose of phylogeny reconstruction because they are identical by descent and confounding events between loci are easily resolved by sequencing. The genome of the grey mouse lemur (Microcebus murinus was computationally assayed for synapomorphic Alu elements. Those that were identified as Lemuriformes-specific were analyzed against other available primate genomes for orthologous sequence in which to design primers for PCR (polymerase chain reaction verification. A primate phylogenetic panel of 24 species, including 22 lemur species from all five families, was examined for the presence/absence of 138 Alu elements via PCR to establish relationships among species. Of these, 111 were phylogenetically informative. A phylogenetic tree was generated based on the results of this analysis. We demonstrate strong support for the monophyly of Lemuriformes to the exclusion of other primates, with Daubentoniidae, the aye-aye, as the basal lineage within the infraorder. Our results also suggest Lepilemuridae as a sister lineage to Cheirogaleidae, and Indriidae as sister to Lemuridae. Among the Cheirogaleidae, we show strong support for Microcebus and Mirza as sister genera, with Cheirogaleus the sister lineage to both. Our results also support the monophyly of the Lemuridae. Within Lemuridae we place Lemur and Hapalemur together to the

Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

Directory of Open Access Journals (Sweden)

Lap Ah Tse

Full Text Available The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+ type.Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated.Altogether 52 (6.96% breast cancer cases and 23 (2.95% controls was found that the patients' one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR of 2.41 (95%CI: 1.45-4.02. An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38-4.28, with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46-10.79 than an affected sister (OR = 2.06, 95%CI: 1.07-3.97, while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives.This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired.

Family Home-treatment Autism (FHA) in the Netherlands : An explorative study about the “true colours” of families with ASD

NARCIS (Netherlands)

F.H. Aerts; R. de Meyer; B.M. de Jong; J.W. Veerman; Jan-Pieter Teunisse

2013-01-01

The upbringing of children with ASD is a difficult task for their parents. Because of their constraints in contact and communication it is hard to understand their needs and therefore the parents and their brothers and sisters need specific skills. In the Netherlands there is no home treatment

Higgs Signals in a Type I 2HDM or with a Sister Higgs

Energy Technology Data Exchange (ETDEWEB)

Alves, Daniele S.M. [Fermilab; Fox, Patrick J. [Fermilab; Weiner, Neal J. [New York U.

2012-07-01

In models where an additional SU(2)-doublet that does not have couplings to fermions participates in electroweak symmetry breaking, the properties of the Higgs boson are changed. At tree level, in the neighborhood of the SM-like range of parameter space, it is natural to have the coupling to vectors, cV, approximately constant, while the coupling to fermions, cf, is suppressed. This leads to enhanced VBF signals of gamma gamma while keeping other signals of Higgses approximately constant (such as WW* and ZZ*), and suppressing higgs to tau tau. Sizable tree-level effects are often accompanied by light charged Higgs states, which lead to important constraints from b to s gamma and top to b H+, but also often to similarly sizable contributions to the inclusive h to gamma gamma signal from radiative effects. In the simplest model, this is described by a Type I 2HDM, and in supersymmetry is naturally realized with 'sister Higgs' fields. In such a scenario, additional light charged states can contribute further with fewer constraints from heavy flavor decays. With supersymmetry, Grand Unification motivates the inclusion of colored partner fields. These G-quarks may provide additional evidence for such a model.

Sister chromatid exchanges and structural chromosome aberrations in lymphocytes in operating room personnel

Energy Technology Data Exchange (ETDEWEB)

Husum, B; Niebuhr, E; Wulf, H C; Norgaard, I

1983-06-01

Information on possible chromosomal damage in humans after long-term exposure to trace concentrations of waste anaesthetic gases is scarce. We examined peripheral lymphocytes in operating room personnel for both chromosome aberrations and sister chromatid exchanges (SCE). Following a standardized procedure of cultivation and staining, 30 cells from each person were scored for SCE and 100 cells from each person were examined for chromosome aberrations. A total of 45 persons were examined, representing anaesthetists (n . 15), operating room nurses assisting the surgeon (n . 10), nurses circulating in the operating room (n . 8) and healthy, unexposed controls (n . 12). The median duration of working in the operating room was 102 months, respectively. Time-weighted concentration levels of 2.5-4.3 p.p.m. of halothane and 25-400 p.p.m. of nitrous oxide were measured in the breathing zones of the anaesthetists during mask anaesthesia. Examination of SCE and chromosome aberrations yielded corresponding qualitative results. With both tests, no statistically significant difference was observed between the four groups of persons. It was concluded that by examination of both SCE and chromosome aberrations in peripheral lymphocytes in operating room personnel, no indication was found of a mutagenic effect of long-term exposure to trace concentrations of waste anaesthetic gases.

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

Directory of Open Access Journals (Sweden)

Johannsson Oskar

2008-11-01

Full Text Available Abstract Background Familial adenomatous polyposis (FAP is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. Methods Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. Results 10 novel APC gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA developed colon cancer at age 72 as the first manifestation of attenuated FAP. Conclusion With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.

A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.

Science.gov (United States)

Weterings, A A W; van Rijsingen, I A W; Plomp, A S; Zwinderman, A H; Lekanne Deprez, R H; Mannens, M M; van den Bergh Weerman, M A; van der Wal, A C; Pinto-Sietsma, S J

2013-07-01

We report a novel lamin A/C (LMNA) mutation, p.Glu223Lys, in a family with extensive atherosclerosis, diabetes mellitus and steatosis hepatis. Sequence analysis of LMNA (using Alamut version 2.2), co-segregation analysis, electron microscopy, extensive phenotypic evaluation of the mutation carriers and literature comparison were used to determine the loss of function of this mutation. The father of three siblings died at the age of 45 years. The three siblings and the brother and sister of the father were referred to the cardiovascular genetics department, because of the premature atherosclerosis and dysmorphic characteristics observed in the father at autopsy. The novel LMNA mutation, p.Glu223Lys, was identified in the proband and his two sons. Clinical evaluation revealed atherosclerosis, insulin resistance and hypertension in the proband and dyslipidemia and hepatic steatosis in all the patients with the mutation. Based on the facts that in silico analysis predicts a possibly pathogenic mutation, the mutation co-segregates with the disease, only fibroblasts from mutation carriers show nuclear blebbing and a similar phenotype was reported to be due to missense mutations in LMNA we conclude that we deal with a pathogenic mutation. We conclude that the phenotype is similar to Dunnigan-type familial partial lipodystrophy. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Phylogenetic Reconstruction Shows Independent Evolutionary Origins of Mitochondrial Transcription Factors from an Ancient Family of RNA Methyltransferase Proteins.

Science.gov (United States)

Aj Harris; Goldman, Aaron David

2018-04-25

Here, we generate a robust phylogenetic framework for the rRNA adenine N(6)-methyltransferase (RAMTase) protein family that shows a more ancient and complex evolutionary history within the family than previously reported. RAMTases occur universally by descent across the three domains of life, and typical orthologs within the family perform methylation of the small subunits of ribosomal RNA (rRNA). However, within the RAMTase family, two different groups of mitochondrial transcription factors, mtTFB1 and mtTFB2, have evolved in eukaryotes through neofunctionalization. Previous phylogenetic analyses have suggested that mtTFB1 and mtTFB2 comprise sister clades that arose via gene duplication, which occurred sometime following the endosymbiosis event that produced the mitochondrion. Through dense and taxonomically broad sampling of RAMTase family members especially within bacteria, we found that these eukaryotic mitochondrial transcription factors, mtTFB1 and mtTFB2, have independent origins in phylogenetically distant clades such that their divergence most likely predates the last universal common ancestor of life. The clade of mtTFB2s comprises orthologs in Opisthokonts and the clade of mtTFB1s includes orthologs in Amoebozoa and Metazoa. Thus, we clearly demonstrate that the neofunctionalization producing the transcription factor function evolved twice independently within the RAMTase family. These results are consistent with and help to elucidate outcomes from prior experimental studies, which found that some members of mtTFB1 still perform the ancestral rRNA methylation function, and the results have broader implications for understanding the evolution of new protein functions. Our phylogenetic reconstruction is also in agreement with prior studies showing two independent origins of plastid RAMTases in Viridiplantae and other photosynthetic autotrophs. We believe that this updated phylogeny of RAMTases should provide a robust evolutionary framework for ongoing

A Social Semiotic Analysis of the Discursive Construction of Teacher Identity in the "Book of Rules and Customs" of the Australian Sisters of the Most Sacred Heart of Jesus

Science.gov (United States)

O'Donoghue, Tom; Chapman, Anne

2011-01-01

Up until the 1960s, Catholic schools throughout most of the English-speaking world were dominated by members of religious teaching orders, including female religious. For over a century following their establishment in 1866, one of the most prominent female religious teaching orders in Australia was that of the Sisters of St Joseph of the Most…

Grave Tending: With Mom at the Cemetery

Directory of Open Access Journals (Sweden)

Carolyn Ellis

2003-05-01

Full Text Available This autoethnographic story shows the process of tending the graves of family members. In the past, the author reluctantly accompanied her mother on her visits to the family cemetery. Once there, she took on the role of distant observer as her mother took care of the family cemetery plots. When her mother becomes disabled, the author begins to arrange the flowers on the graves. Doing so leads her to examine the meaning of visiting the cemetery, feel and connect with her losses, and consider the customs she wants to be part of her own death. When her mother dies, the next generation of women in the family—the author, her sister, and sister-in-law—take on the role of tending the graves, connected in their love and respect for their mother and their feelings of family and family responsibility. This story examines the meanings of family rituals around death and how they are passed from generation to generation. URN: urn:nbn:de:0114-fqs0302285

Adjustment of children who have a sibling with Down syndrome: perspectives of mothers, fathers and children.

Science.gov (United States)

Cuskelly, M; Gunn, P

2006-12-01

A number of methodological weaknesses have contributed to our relatively poor understanding of the impact on children of having a brother or sister with a disability. These include a focus on poor adjustment, using multidiagnostic groups, inadequate matching, and a failure to consider the perspectives of children and parents together. This study compared the adjustment of 53 siblings of a child with Down syndrome with a comparison group of siblings of children who were developing typically. Children were matched on a case-by-case basis for gender, age and position in family. Families were matched for family size and father's occupation. The age range of the target siblings was 7-14 years. Data were gathered from mothers, fathers and siblings. There were no significant differences between the groups on adjustment measures. These included parent perceptions of externalizing and internalizing behaviours, parent perceptions of sibling competence, and sibling perceptions of their own competence and self-worth. Associations between measures of adjustment and child reports of their contribution to household functioning depended on sex rather than group membership. There was an association between parental reports of externalizing behaviour and sibling relationships with the brother/sister closest in age. Having a brother or sister with Down syndrome does not inevitably lead to poor adjustment. Examination of within-family processes would appear to be more useful in identifying children at risk than merely group membership.

Alkaline DNA fragmentation, DNA disentanglement evaluated viscosimetrically and sister chromatid exchanges, after treatment in vivo with nitrofurantoin.

Science.gov (United States)

Parodi, S; Pala, M; Russo, P; Balbi, C; Abelmoschi, M L; Taningher, M; Zunino, A; Ottaggio, L; de Ferrari, M; Carbone, A; Santi, L

1983-07-01

Nitrofurantoin was not positive as a carcinogen in long term assays. In vitro it was positive in some short term tests and negative in others. We have examined Nitrofurantoin for its capability of inducing DNA damage in vivo. With the alkaline elution technique, Nitrofurantoin appeared clearly positive in all the tissues examined (liver, kidney, lung, spleen and bone marrow). In the liver we also observed some cross-linking effect. In bone marrow cells Nitrofurantoin was also clearly positive in terms of sister chromatid exchanges (SCEs) induction. DNA damage in vivo was also examined with a viscosimetric method, more sensitive than alkaline elution. With this method the results were essentially negative, suggesting that the two methods detect different types of damage. In view of its positivity in many organs and in two short term tests in vivo, the carcinogenic potential of Nitrofurantoin should be reconsidered.

Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

Science.gov (United States)

Delâge, J M; Lehner-Netsch, G; Lafleur, R; Simard, J; Brun, G; Prochazka, E

1979-06-01

The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.

Adolescent Childbearing, Poverty, and Siblings: Taking New Direction from the New Literature.

Science.gov (United States)

East, Patricia L.; Jacobson, Leanne J.

2000-01-01

Article critically appraises the sibling-comparison method by discussing its limitations: it assumes within-family homogeneity; it neglects naturally occurring heterogeneity across siblings; it overlooks unique effects of a teen's childbearing for her family and siblings; it underappreciates the selectivity of sisters of teenage mothers who delay…

Continuing Inflation at Three Sisters Volcanic Center, Central Oregon Cascade Range, USA, From GPS, InSAR, and Leveling Observations

Science.gov (United States)

Lisowski, M.; Dzurisin, D.; Wicks, C. W.

2007-12-01

Uplift of a broad area centered ~5 km west of South Sister volcano in central Oregon started sometime after fall 1996, accelerated after fall 1998, and was continuing when last surveyed with GPS and leveling in fall 2006. Surface displacements were measured whenever possible since 1992 with satellite radar interferometry (InSAR), annually since 2001 with GPS and leveling campaigns, and with a continuous GPS station since 2001. The average maximum displacement rate from InSAR was 3 to 5 cm/yr during 1998--2001 and ~1.4 cm/yr during 2004--2006. The other three datasets show a similar pattern, i.e., surface dilation and uplift rates decreased over time but deformation continued through 2006. Our best-fit model is a spherical point pressure (Mogi) source located 6.0--6.5 km below the surface and 4.5--5 km west-southwest of the summit of South Sister volcano. Any marginal improvement gained by using a more complicated source shape is not constrained by the data. This same model fits the deformation data for 2001--2003 and 2003--2006 equally well, so there is no indication that the location or shape of the source has changed. However, the source inflation rate has decreased exponentially since 2001 with a 1/e decay time of about 4 years. The net increase in source volume from the beginning of the episode (~1997) through 2006 was 60 × 106 m3 ± 10 × 106 m3. The only unusual seismicity near the deforming area was a swarm of about 300 small earthquakes on March 23- -26, 2004 ---the first notable seismicity for at least two decades. Timing of the swarm generally coincides with slowing of surface deformation, but any link between the two, if one exists, is not understood. Similar episodes in the past probably would have gone unnoticed if, as we suspect, most were small intrusions that do not culminate in eruptions.

Intereruptive deformation at Three Sisters volcano, Oregon, USA: a strategy for traking volume changes through coupled hydraulic-viscoelastic modeling

Science.gov (United States)

Charco, M.; Rodriguez Molina, S.; Gonzalez, P. J.; Negredo, A. M.; Poland, M. P.; Schmidt, D. A.

2017-12-01

The Three Sisters volcanic region Oregon (USA) is one of the most active volcanic areas in the Cascade Range and is densely populated with eruptive vents. An extensive area just west of South Sister volcano has been actively uplifting since about 1998. InSAR data from 1992 through 2001 showed an uplift rate in the area of 3-4 cm/yr. Then the deformation rate considerably decreased between 2004 and 2006 as shown by both InSAR and continuous GPS measurements. Once magmatic system geometry and location are determined, a linear inversion of all GPS and InSAR data available is performed in order to estimate the volume changes of the source along the analyzed time interval. For doing so, we applied a technique based on the Truncated Singular Value Decomposition (TSVD) of the Green's function matrix representing the linear inversion. Here, we develop a strategy to provide a cut-off for truncation removing the smallest singular values without too much loose of data resolution against the stability of the method. Furthermore, the strategy will give us a quantification of the uncertainty of the volume change time series. The strength of the methodology resides in allowing the joint inversion of InSAR measurements from multiple tracks with different look angles and three component GPS measurements from multiple sites.Finally, we analyze the temporal behavior of the source volume changes using a new analytical model that describes the process of injecting magma into a reservoir surrounded by a viscoelastic shell. This dynamic model is based on Hagen-Poiseuille flow through a vertical conduit that leads to an increase in pressure within a spherical reservoir and time-dependent surface deformation. The volume time series are compared to predictions from the dynamic model to constrain model parameters, namely characteristic Poiseuille and Maxwell time scales, inlet and outlet injection pressure, and source and shell geometries. The modeling approach used here could be used to

Phylogeny of Celastraceae tribe Euonymeae inferred from morphological characters and nuclear and plastid genes.

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Simmons, Mark P; McKenna, Miles J; Bacon, Christine D; Yakobson, Kendra; Cappa, Jennifer J; Archer, Robert H; Ford, Andrew J

2012-01-01

The phylogeny of Celastraceae tribe Euonymeae (≈ 230 species in eight genera in both the Old and New Worlds) was inferred using morphological characters together with plastid (matK, trnL-F) and nuclear (ITS and 26S rDNA) genes. Tribe Euonymeae has been defined as those genera of Celastraceae with generally opposite leaves, isomerous carpels, loculicidally dehiscent capsules, and arillate seeds (except Microtropis). Euonymus is the most diverse (129 species) and widely cultivated genus in the tribe. We infer that tribe Euonymeae consists of at least six separate lineages within Celastraceae and that a revised natural classification of the family is needed. Microtropis and Quetzalia are inferred to be distinct sister groups that together are sister to Zinowiewia. The endangered Monimopetalum chinense is an isolated and early derived lineage of Celastraceae that represents an important component of phylogenetic diversity within the family. Hedraianthera is sister to Brassiantha, and we describe a second species (Brassiantha hedraiantheroides A.J. Ford) that represents the first reported occurrence of this genus in Australia. Euonymus globularis, from eastern Australia, is sister to Menepetalum, which is endemic to New Caledonia, and we erect a new genus (Dinghoua R.H. Archer) for it. The Madagascan species of Euonymus are sister to Pleurostylia and recognized as a distinct genus (Astrocassine ined.). Glyptopetalum, Torralbasia, and Xylonymus are all closely related to Euonymus sensu stricto and are questionably distinct from it. Current intrageneric classifications of Euonymus are not completely natural and require revision. Copyright © 2011 Elsevier Inc. All rights reserved.

Fungal diversity notes 1-110: Taxonomic and phylogenetic contributions to fungal species

Digital Repository Service at National Institute of Oceanography (India)

Liu, J.K.; Hyde, K.D.; Jones, E.B.G.; Ariyawansa, H.A.; Bhat, D.J.; Boonmee, S.; Maharachchikumbura, S.S.N.; McKenzie, E.H.C.; Phookamsak, R.; Phukhamsakda, C.; Shenoy, B.D.; et.al

lineage in Dothideomycetes and its unique morphology The family is sister to Biatriosporaceae and Roussoellaceae The new genera are Allophaeosphaeria (Phaeosphaeriaceae), Amphibambusa (Amphisphaeriaceae), Brunneomycosphaerella (Capnodiales genera incertae...

[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.

Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series

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Ueno Hiroki

2011-12-01

Full Text Available Abstract Introduction Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for more than 20 years. Case presentation The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. Conclusion We conclude that a homozygous deletion

Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series.

Science.gov (United States)

Ueno, Hiroki; Kobatake, Keitaro; Matsumoto, Masayasu; Morino, Hiroyuki; Maruyama, Hirofumi; Kawakami, Hideshi

2011-12-12

Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for more than 20 years. The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. We conclude that a homozygous deletion-type mutation in the optineurin gene may be associated with widespread

BRCA1 status in Pakistani breast cancer patients with moderate family history

International Nuclear Information System (INIS)

Moatter, T.; Pervez, S.; Khan, S.; Azam, I.

2011-01-01

Objective: To determine BRCA1 status in breast carcinoma patients of Pakistani origin. Study Design: Observational study. Place and Duration of Study: The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009. Methodology: Fifty three breast cancer patients based on clinical and laboratory diagnosis were recruited for this study. Moderate family history was defined as having a close relative (mother, daughter, sister) diagnosed with breast cancer under 45 years. Peripheral blood samples were collected from each patient in a 5 ml tube containing EDTA as anticoagulant. Subsequent to DNA extraction, mutational analysis of BRCA1 exons 2, 5, 6, 16, 20 and 22 was carried out using single strand conformation polymorphism (SSCP) assay while protein truncation test (PTT) was used to examine mutations in exon 11. All BRCA1 sequence variants were confirmed by DNA sequencing. Results: Twenty-three patients were diagnosed with early onset breast cancer, 30 patients had moderate family history. At the time of diagnosis, the median age of enrolled patients was 39 years (range 24-65 years). Out of 53 patients, analyzed by SSCP assay, mobility shift was detected in exon 6, 16 and 20 of three patients, whereas one patient was tested positive for mutation in exon 11 by PTT assays. All patients with BRCA1 mutations were further confirmed by DNA sequencing analysis. In exon 16 c.4837A > G was confirmed, which is a common polymorphism reported in several populations including Asians. Moreover, mutations in exon 6 (c.271T > G), exon 20 (c.5231 del G) and exon 11 (c.1123 T > G) were reported first time in the Pakistani population. Several BRCA1 mutations were observed in Pakistani breast cancer patients with moderate family history. Therefore, mutation-based genetic counselling for patients with moderate family history can facilitate management, if one first or second degree relative or early onset disease is apparent. (author)

SPARK RttT: Year One Fidelity and Implementation

Science.gov (United States)

Rochford, Joseph A.; O'Neill, Adrienne; Gelb, Adele; Ross, Kimberly

2014-01-01

Developed in 2003 by the Sisters of Charity Foundation of Canton with a grant from the Kellogg Foundation, "Supporting Partnerships to Assure Ready Kids" ("SPARK Ohio") is a family-centered kindergarten readiness program that works with families, schools, and the community. From its initial sites in Stark County, "SPARK…

Karyotypic evolution in family Hipposideridae (Chiroptera, Mammalia) revealed by comparative chromosome painting, G- and C-banding.

Science.gov (United States)

Mao, Xiu-Guang; Wang, Jin-Huan; Su, Wei-Ting; Wang, Ying-Xiang; Yang, Feng-Tang; Nie, Wen-Hui

2010-10-01

Comparing to its sister-family (Rhinolophidae), Hipposideridae was less studied by cytogenetic approaches. Only a few high-resolution G-banded karyotypes have been reported so far, and most of the conclusions on the karyotypic evolution in Hipposideridae were based on conventional Giemsa-staining. In this study, we applied comparative chromosome painting, a method of choice for genome-wide comparison at the molecular level, and G- and C-banding to establish comparative map between five hipposiderid species from China, using a whole set of chromosome-specific painting probes from one of them (Aselliscus stoliczkanus). G-band and C-band comparisons between homologous segments defined by chromosome painting revealed that Robertsonian translocations, paracentric inversions and heterochromatin addition could be the main mechanism of chromosome evolution in Hipposideridae. Comparative analysis of the conserved chromosomal segments among five hipposiderid species and outgroup species suggests that bi-armed chromosomes should be included into the ancestral karyotype of Hipposideridae, which was previously believed to be exclusively composed of acrocentric chromosomes.

Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.

Science.gov (United States)

Cho, Hye-Kyung; Jeon, In Sang

2014-03-01

Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis at 8-month of age. Her sister, a 37-month-old girl (patient 2), had recurrent stomatitis with profound neutropenia, and her mother, a 32-yr-old woman (patient 3), had had recurrent stomatitis until her early 20s with neutropenia. We found an ELANE gene mutation (c.597+1G > A) from them in direct DNA sequencing analysis. Patients 1 and 2 did not respond to granulocyte colony stimulating factor and patient 1 was treated with prolonged antibiotics and excision. We demonstrated inherited SCN cases showing different severity even with the same mutation of the ELANE gene in a family.

Familial Hypobetalipoproteinemia-Induced Nonalcoholic Steatohepatitis

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Mindy C.W. Lam

2012-07-01

Full Text Available Familial hypobetalipoproteinemia (FHBL is a rare genetic disorder of lipid metabolism that is associated with abnormally low serum levels of low-density lipoprotein (LDL cholesterol and apolipoprotein B. It is an autosomal co-dominant disorder, and depending on zygosity, the clinical manifestations may vary from none to neurological, endocrine, hematological or liver dysfunction. Nonalcoholic fatty liver disease is common in persons with FHBL, however progression to nonalcoholic steatohepatitis is unusual. We describe here a patient with a novel APOB mutation, V703I, which appears to contribute to the severity of the FHBL phenotype. He had liver enzyme abnormalities, increased echogenicity of the liver consistent with steatosis, very low LDL cholesterol at 0.24 mmol/l (normal 1.8–3.5 mmol/l and an extremely low apolipoprotein B level of 0.16 g/l (normal 0.6–1.2 g/l. APOB gene sequencing revealed him to be a compound heterozygote with two mutations (R463W and V703I. APOB R463W has previously been reported to cause FHBL. Genetic sequencing of his first-degree relatives identified the APOB V703I mutation in his normolipidemic brother and father and the APOB R463W mutation in his mother and sister, both of whom have very low LDL cholesterol levels. These results suggest that the APOB V703I mutation alone does not cause the FHBL phenotype. However, it is possible that it has a contributory role to a more aggressive phenotype in the presence of APOB R463W.

Merotelic kinetochore attachment in oocyte meiosis II causes sister chromatids segregation errors in aged mice.

Science.gov (United States)

Cheng, Jin-Mei; Li, Jian; Tang, Ji-Xin; Hao, Xiao-Xia; Wang, Zhi-Peng; Sun, Tie-Cheng; Wang, Xiu-Xia; Zhang, Yan; Chen, Su-Ren; Liu, Yi-Xun

2017-08-03

Mammalian oocyte chromosomes undergo 2 meiotic divisions to generate haploid gametes. The frequency of chromosome segregation errors during meiosis I increase with age. However, little attention has been paid to the question of how aging affects sister chromatid segregation during oocyte meiosis II. More importantly, how aneuploid metaphase II (MII) oocytes from aged mice evade the spindle assembly checkpoint (SAC) mechanism to complete later meiosis II to form aneuploid embryos remains unknown. Here, we report that MII oocytes from naturally aged mice exhibited substantial errors in chromosome arrangement and configuration compared with young MII oocytes. Interestingly, these errors in aged oocytes had no impact on anaphase II onset and completion as well as 2-cell formation after parthenogenetic activation. Further study found that merotelic kinetochore attachment occurred more frequently and could stabilize the kinetochore-microtubule interaction to ensure SAC inactivation and anaphase II onset in aged MII oocytes. This orientation could persist largely during anaphase II in aged oocytes, leading to severe chromosome lagging and trailing as well as delay of anaphase II completion. Therefore, merotelic kinetochore attachment in oocyte meiosis II exacerbates age-related genetic instability and is a key source of age-dependent embryo aneuploidy and dysplasia.

Evidence that cyclophosphamide can to induce exchanges in the sister chromatids (ICH) through secondary injuries

International Nuclear Information System (INIS)

Morales R, P.; Rodriguez R, R.

1997-01-01

By means of the use of destination protocol of ICH inductive injuries (DLI-ICH), it was studied if interchanges in the sister chromatids (ICH) induced by cyclophosphamide (CP), in the second post-treatment division (ICH-2) are produced by secondary injuries or by fresh injuries. For discard between these possibilities it was administered CP at different periods before of the first post-treatment division, taking as reference the administered time for high dose of bromodeoxyuridine (BrdU ) which was approximately at the beginning of this division. The ICH frequencies that occur in the first, the second and the third synthesis stages (S) were determined. It was observed that when the administered CP was four hours before BrdU , the ICH frequencies of the second and the third S were reduced. The frequency of the first ICH increased lightly in relation to those of the normal protocol (0.5 h before BrdU ) and that the supplying of CP six hours before caused almost a total reduction of ICH of second and third S and an important increment of ICH of first S.This was interpreted as evidence that the ICH-2 are product of secondary injuries. (Author)

Levels of Distress in Women With a Family History of Ovarian Cancer

National Research Council Canada - National Science Library

Kash, Kathryn

2005-01-01

... (mothers sisters or daughters). Women will be queried about their objective and subjective risk status their knowledge of ovarian cancer and risk factors their uncertainty about ovarian cancer levels of anxiety and depress...

Phylogenetic Relationships of Five Asian Schilbid Genera Including Clupisoma (Siluriformes: Schilbeidae.

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Jing Wang

Full Text Available The phylogenetic relationships of Asian schilbid catfishes of the genera Clupisoma, Ailia, Horabagrus, Laides and Pseudeutropius are poorly understood, especially those of Clupisoma. Herein, we reconstruct the phylogeny of 38 species of catfishes belonging to 28 genera and 14 families using the concatenated mitochondrial genes COI, cytb, and 16S rRNA, as well as the nuclear genes RAG1 and RAG2. The resulting phylogenetic trees consistently place Clupisoma as the sister taxon of Laides, and the five representative Asian schilbid genera form two monophyletic groups with the relationships (Ailia (Laides, Clupisoma and (Horabagrus, Pseudeutropius. The so-called "Big Asia" lineage relates distantly to African schilbids. Independent analyses of the mitochondrial and nuclear DNA data yield differing trees for the two Asian schilbid groups. Analyses of the mitochondrial gene data support a sister-group relationship for (Ailia (Laides, Clupisoma and the Sisoroidea and a sister-taxon association of (Horabagrus, Pseudeutropius and the Bagridae. In contrast, analyses of the combined nuclear data indicate (Ailia (Laides, Clupisoma to be the sister group to (Horabagrus, Pseudeutropius. Our results indicate that the Horabagridae, recognized by some authors as consisting of Horabagrus, Pseudeutropius and Clupisoma does not include the latter genus. We formally erect a new family, Ailiidae fam. nov. for a monophyletic Asian group comprised of the genera Ailia, Laides and Clupisoma.

Nuclear and cpDNA sequences combined provide strong inference of higher phylogenetic relationships in the phlox family (Polemoniaceae).

Science.gov (United States)

Johnson, Leigh A; Chan, Lauren M; Weese, Terri L; Busby, Lisa D; McMurry, Samuel

2008-09-01

Members of the phlox family (Polemoniaceae) serve as useful models for studying various evolutionary and biological processes. Despite its biological importance, no family-wide phylogenetic estimate based on multiple DNA regions with complete generic sampling is available. Here, we analyze one nuclear and five chloroplast DNA sequence regions (nuclear ITS, chloroplast matK, trnL intron plus trnL-trnF intergeneric spacer, and the trnS-trnG, trnD-trnT, and psbM-trnD intergenic spacers) using parsimony and Bayesian methods, as well as assessments of congruence and long branch attraction, to explore phylogenetic relationships among 84 ingroup species representing all currently recognized Polemoniaceae genera. Relationships inferred from the ITS and concatenated chloroplast regions are similar overall. A combined analysis provides strong support for the monophyly of Polemoniaceae and subfamilies Acanthogilioideae, Cobaeoideae, and Polemonioideae. Relationships among subfamilies, and thus for the precise root of Polemoniaceae, remain poorly supported. Within the largest subfamily, Polemonioideae, four clades corresponding to tribes Polemonieae, Phlocideae, Gilieae, and Loeselieae receive strong support. The monogeneric Polemonieae appears sister to Phlocideae. Relationships within Polemonieae, Phlocideae, and Gilieae are mostly consistent between analyses and data permutations. Many relationships within Loeselieae remain uncertain. Overall, inferred phylogenetic relationships support a higher-level classification for Polemoniaceae proposed in 2000.

Screening for Y Chromosome Microdeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister

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Hakan Gurkan

2010-01-01

Full Text Available Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done from patients' own cells.

Phylogeography of Indo-Pacific reef fishes: sister wrassesCoris gaimardandC. cuvieriin the Red Sea, Indian Ocean and Pacific Ocean

KAUST Repository

Ahti, Pauliina A.; Coleman, Richard R.; DiBattista, Joseph; Berumen, Michael L.; Rocha, Luiz A.; Bowen, Brian W.

2016-01-01

Aim: The aim of this study was to resolve the evolutionary history, biogeographical barriers and population histories for sister species of wrasses, the African Coris (Coris cuvieri) in the Indian Ocean and Red Sea, and the Yellowtail Coris (Coris gaimard) in the Pacific Ocean. Glacial sea level fluctuations during the Pleistocene have shaped the evolutionary trajectories of Indo-Pacific marine fauna, primarily by creating barriers between the Red Sea, Indian Ocean and Pacific Ocean. Here, we evaluate the influence of these episodic glacial barriers on sister species C. cuvieri and C. gaimard. Location: Red Sea, Indian Ocean, Pacific Ocean. Methods: Sequences from mitochondrial DNA cytochrome oxidase c subunit I (COI), and nuclear introns gonadotropin-releasing hormone (GnRH) and ribosomal S7 protein were analysed in 426 individuals from across the range of both species. Median-joining networks, analysis of molecular variance and Bayesian estimates of the time since most recent common ancestor were used to resolve recent population history and connectivity. Results: Cytochrome oxidase c subunit I haplotypes showed a divergence of 0.97% between species, and nuclear alleles were shared between species. No population structure was detected between the Indian Ocean and Red Sea. The strongest signal of population structure was in C. gaimard between the Hawaiian biogeographical province and other Pacific locations (COI ϕ(symbol)ST = 0.040-0.173, P < 0.006; S7 ϕ(symbol)ST = 0.046, P < 0.001; GnRH ϕ(symbol)ST = 0.022, P < 0.005). Time to most recent common ancestor is c. 2.12 Ma for C. cuvieri and 1.76 Ma for C. gaimard. Main conclusions: We demonstrate an Indian-Pacific divergence of c. 2 Myr and high contemporary gene flow between the Red Sea and Indian Ocean, mediated in part by the long pelagic larval stage. The discovery of hybrids at Christmas Island indicates that Indian and Pacific lineages have come into secondary contact after allopatric isolation. Subspecies

Phylogeography of Indo-Pacific reef fishes: sister wrassesCoris gaimardandC. cuvieriin the Red Sea, Indian Ocean and Pacific Ocean

KAUST Repository

Ahti, Pauliina A.

2016-02-01

Aim: The aim of this study was to resolve the evolutionary history, biogeographical barriers and population histories for sister species of wrasses, the African Coris (Coris cuvieri) in the Indian Ocean and Red Sea, and the Yellowtail Coris (Coris gaimard) in the Pacific Ocean. Glacial sea level fluctuations during the Pleistocene have shaped the evolutionary trajectories of Indo-Pacific marine fauna, primarily by creating barriers between the Red Sea, Indian Ocean and Pacific Ocean. Here, we evaluate the influence of these episodic glacial barriers on sister species C. cuvieri and C. gaimard. Location: Red Sea, Indian Ocean, Pacific Ocean. Methods: Sequences from mitochondrial DNA cytochrome oxidase c subunit I (COI), and nuclear introns gonadotropin-releasing hormone (GnRH) and ribosomal S7 protein were analysed in 426 individuals from across the range of both species. Median-joining networks, analysis of molecular variance and Bayesian estimates of the time since most recent common ancestor were used to resolve recent population history and connectivity. Results: Cytochrome oxidase c subunit I haplotypes showed a divergence of 0.97% between species, and nuclear alleles were shared between species. No population structure was detected between the Indian Ocean and Red Sea. The strongest signal of population structure was in C. gaimard between the Hawaiian biogeographical province and other Pacific locations (COI ϕ(symbol)ST = 0.040-0.173, P < 0.006; S7 ϕ(symbol)ST = 0.046, P < 0.001; GnRH ϕ(symbol)ST = 0.022, P < 0.005). Time to most recent common ancestor is c. 2.12 Ma for C. cuvieri and 1.76 Ma for C. gaimard. Main conclusions: We demonstrate an Indian-Pacific divergence of c. 2 Myr and high contemporary gene flow between the Red Sea and Indian Ocean, mediated in part by the long pelagic larval stage. The discovery of hybrids at Christmas Island indicates that Indian and Pacific lineages have come into secondary contact after allopatric isolation. Subspecies

Association between Aggressive Behaviors, Life Satisfaction, Self-rated Health and Counseling with Family Members among Children and Adolescents: The CASPIAN- IV Study

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Hossein Ansari

2016-10-01

Full Text Available Objectives: This study aims to assess the relationship between the frequency of aggressive behaviors, life satisfaction (LS and self- rated health (SRH and counseling with family members in a representative sample of Iranian children and adolescents. Methods: In this nationwide study, 14880 school students, aged 6-18 years, wereselected by cluster and stratified multi-stage sampling method from 30 provinces inIran. The World Health Organization Global School-based Health Survey questionnaire(WHO-GSHS was used.Mental disorders were assessed through the WHO-GSHSquestionnaire that consisted of worthless, angriness, anxiety, insomnia, confusion, depression, and worried.Results:.The results showed that 45.7% of boys and 44.8% of girls share their problem with their brother or sister. The prevalence of physical fight, victim, and bully was not different in children and adolescents who consulted with their brother or sister compared with those who did not consult (p> 0.05. In addition, 60.4% of boys and 66.0% of girls share their problems with friends. Physical fight and bully were less prevalent in children and adolescents who consulted with their friends compared with those who did not consult (p< 0.001. According to this study, the prevalence of LS and SRH “good” was also lower in children and adolescents who share their problem with their father or mother compared with those who did not consult (p< 0.001.Conclusion:Children and adolescents should be encouraged to consult with their parents about their problems. Parents should offer their children an opportunity to express their views and wishes about their problems.

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Science.gov (United States)

Reiterová, Jana; Štekrová, Jitka; Merta, Miroslav; Kotlas, Jaroslav; Elišáková, Veronika; Lněnička, Petr; Korabečná, Marie; Kohoutová, Milada; Tesař, Vladimír

2013-03-15

Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability of ADPKD highlights a role for genetic background. Here we report a case of ADPKD family initially appearing unlinked to the PKD1 or PKD2 loci and the influence of mosaicism and hypomorphic allele on the variability of the clinical course of the disease. A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. On the other hand, her grandson had a severe clinical course (end stage renal disease at the age of 45) in spite of the early treatment of mild hypertension. There was found by mutational analysis of PKD genes that the severe clinical course was caused by PKD1 gene frameshifting mutation inherited from his father and mildly affected grandmother in combination with inherited hypomorphic PKD1 allele with described missense mutation (p.Thr2250Met) from his clinically healthy mother. The sister with two cysts and with PKD1 hypomorphic allele became the kidney donor to her severely affected brother. We present the first case of ADPKD with the influence of mosaicism and hypomorphic allele of the PKD1 gene on clinical course of ADPKD in one family. Moreover, this report illustrates the role of molecular genetic testing in assessing young related kidney donors for patients with ADPKD.

Mitochondrial control region and GSTP1 polymorphism associated ...

African Journals Online (AJOL)

These two heteroplasmic mutations were found at positions 11qG3037G/A and 11qC3038C/A in patient, father, mother, brother and son, but not in the sister and wife samples in family 2. The GSTP1, 105Ile >Val is most susceptible to inherited UBC risk for these ethnic families. The samples from families 1 and 2, including ...

Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

Science.gov (United States)

Ponti, G; Ponz de Leon, M; Maffei, S; Pedroni, M; Losi, L; Di Gregorio, C; Gismondi, V; Scarselli, A; Benatti, P; Roncari, B; Seidenari, S; Pellacani, G; Varotti, C; Prete, E; Varesco, L; Roncucci, L

2005-11-01

Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir-Torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.

Mitochondrial and nuclear genes suggest that stony corals are monophyletic but most families of stony corals are not (Order Scleractinia, Class Anthozoa, Phylum Cnidaria.

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Hironobu Fukami

Full Text Available Modern hard corals (Class Hexacorallia; Order Scleractinia are widely studied because of their fundamental role in reef building and their superb fossil record extending back to the Triassic. Nevertheless, interpretations of their evolutionary relationships have been in flux for over a decade. Recent analyses undermine the legitimacy of traditional suborders, families and genera, and suggest that a non-skeletal sister clade (Order Corallimorpharia might be imbedded within the stony corals. However, these studies either sampled a relatively limited array of taxa or assembled trees from heterogeneous data sets. Here we provide a more comprehensive analysis of Scleractinia (127 species, 75 genera, 17 families and various outgroups, based on two mitochondrial genes (cytochrome oxidase I, cytochrome b, with analyses of nuclear genes (ss-tubulin, ribosomal DNA of a subset of taxa to test unexpected relationships. Eleven of 16 families were found to be polyphyletic. Strikingly, over one third of all families as conventionally defined contain representatives from the highly divergent "robust" and "complex" clades. However, the recent suggestion that corallimorpharians are true corals that have lost their skeletons was not upheld. Relationships were supported not only by mitochondrial and nuclear genes, but also often by morphological characters which had been ignored or never noted previously. The concordance of molecular characters and more carefully examined morphological characters suggests a future of greater taxonomic stability, as well as the potential to trace the evolutionary history of this ecologically important group using fossils.

Sister chromatid exchanges in X-ray irradiated blood lymphocytes from patients with hereditary diseases with radioresistant DNA synthesis

International Nuclear Information System (INIS)

Pleskach, N.M.; Andriadze, M.I.; Mikhel'son, V.M.; Zhestyanikov, V.D.

1988-01-01

X-ray irradiation induced sister chromatid exchanges (SCE) in blood lymphocytes from patient with Down's syndrome and adult progeria (in both the cases radioresistant DNA synthesis takes place). In normal lymphocytes (in which ionizing radiation inhibits the replicative synthesis of DNA) the rate of SCE rises with the rise of radiation dose. Thus, the rate of SCE in X-ray irradiated lymphocytes is in reverse dependence with radioresistance of replicative synthesis of DNA. The data obtained are explained in accordance with the replicative hypothesis of the SCE nature (Painter, 1980a): in cells of patients with Down's syndrome, xeroderma pigmentosum from 2 and progeria of adults the time of existence of partly replicated clusters of replicons is decreased due to radioresistant replicative synthesis of DNA, but the presence of partly replicated clusters of replicons in necessary for SCE formation. Therefore the rate of SCF in X-irradiated cells of these patients decreases

Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines

International Nuclear Information System (INIS)

Tohda, H.; Oikawa, A.

1983-01-01

Sister-chromatic exchange (SCE) induced by ultraviolet (UV) irradiation and viability after UV irradiation were studied in lymphoblastoid cell lines derived from 7 patients with xeroderma pigmentosum (XP) and 6 normal donors. UV irradiation caused significant increases of SCEs in both XP and normal cells. In 3 XP cell lines, which were deficient in unscheduled DNA synthesis (UDS) and sensitive to the killing effect of UV, very high SCE frequencies were observed after UV irradiation. Cells from a patient with the De Sanctis-Cacchione syndrome were the most sensitive to UV in terms of both SCE induction and cell killing. In 2 of 4 UDS-proficient XP cell lines tested, the incidences of UV-induced SCEs were similar to those in normal cell lines, but in 2 other UDS-proficient lines from 2 XP patients with skin cancer, the frequencies of UV-induced SCEs were significantly higher than in normal cells. (orig./AJ)

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

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Mai Phuong L

2007-03-01

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

SUPPORTING FAMILIES OF FOREIGN FIGHTERS. A REALISTIC APPROACH FOR MEASURING THE EFFECTIVENESS

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Amy-Jane Gielen

2015-03-01

disengagement work. Moreover, family members such as brothers, sisters, cousins, but also peers, form an at-risk group of travelling to Syria. Supporting families and the broader professional network of the family (such as school teachers should enable practitioners and family members to act upon early warning signals and prevent travel of other family members or peers; Providing family support can work as a very powerful narrative for foreign fighters to come home. A lot of foreign fighters are afraid of returning because they fear prosecution or Guantanamo Bay. In one country were family and individual support was offered on a local level, parents spread the word that ‘the government was there to help them’. This message found its way back to the foreign fighters in Syria, providing a powerful narrative and highlighting the internal/external and local/global dimension of providing support; Finally, foreign fighters cause a lot of grief, anxiety, despair and upset for family members to the point they are no longer actively able to participate in society (not able to work etc. for which psychological counselling is essential. This article will focus on family support as part of counter-radicalisation policy. How can its effectiveness be measured? To answer this question, this article will draw on realistic evaluation which revolves around ‘what works, for who, in which context and how? (Pawson & Tilley 1997. It will discuss the different forms and merits of family support across Europe by drawing upon the lessons learned of practitioners engaging in family support within the Radicalisation Awareness Network (RAN including two case studies in which support was provided offered to families of foreign fighters by myself. Based on these practitioner experiences hypotheses on family support as part of a counter-radicalisation strategy are developed which in turn could be used for empirical testing.

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,...

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

Science.gov (United States)

Meilleur, K.G.; Traoré, M.; Sangaré, M.; Britton, A.; Landouré, G.; Coulibaly, S.; Niaré, B.; Mochel, F.; La Pean, A.; Rafferty, I.; Watts, C.; Littleton-Kearney, M. T.; Blackstone, C.; Singleton, A.; Fischbeck, K.H.

2010-01-01

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43. PMID:20039086

Elastatinal and leupeptin: effects on u.v.-induced mutation and sister-chromatid exchanges in Chinese hamster cells

International Nuclear Information System (INIS)

Paul, P.; Fujiwara, Y.

1981-01-01

Microbial protease inhibitors elastatinal and leupeptin were tested for cytotoxicity and for effects on spontaneous and u.v.-induced 6-thioguanine-resistant (6TGsup(r)) mutation and sister-chromatid exchange (SCE) in V79 Chinese hamster cells. Continuous treatment with elastatinal exhibited marked cytotoxicity, while leupeptin was almost non-cytotoxic. Elastatinal rapidly induced cytotoxic effects as a function of its concentration and time of exposure. Near maximum cytotoxicity was reached after exposures of 6-8 h and this was partially abolished by the presence of 2.5 μg cycloheximide per ml. Concentrations of either protease inhibitor which gave 60-80% survival had no appreciable effects on u.v. survival and frequencies of spontaneous and u.v.-induced 6TGsup(r) mutation and SCE. However, reconstruction experiments revealed that pretreatments of 6TGsup(r) and 6TGsup(s) (wild-type) cells with these inhibitors for 6 days tended to block metabolic co-operation in their co-cultures. Thus, elastatinal and leupeptin are neither clastogenic nor mutagenic by themselves, and do not alter mutation fixation and expression. (author)

Elastatinal and leupeptin: effects on u.v.-induced mutation and sister-chromatid exchanges in Chinese hamster cells

International Nuclear Information System (INIS)

Paul, P.; Fujiwara, Y.

1981-01-01

Microbial protease inhibitors elastatinal and leupeptin were tested for cytotoxicity and for effects on spontaneous and u.v.-induced 6-thioguanine-resistant (6TGr) mutation and sister-chromatid exchange (SCE) in V79 Chinese hamster cells. Continuous treatment with elastatinal exhibited marked cytotoxicity, while leupeptin was almost non-cytotoxic. Elastatinal rapidly induced cytotoxic effects as a function of its concentration and time of exposure. Near maximum cytotoxicity was reached after exposure of 6-8 h and this was partially abolished by the presence of 2.5 micrograms cycloheximide per ml. Concentrations of either protease inhibitor which gave 60-80% survival had no appreciable effects on u.v. survival and frequencies of spontaneous and u.v.-induced 6TGr mutation and SCE. However, reconstruction experiments revealed that pretreatments of 6TGr and 6TGs (wild-type) cells with these inhibitors for 6 days tended to block metabolic co-operation in their co-cultures. Thus, elastatinal and leupeptin are neither clastogenic mutagenic by themselves, and do not alter mutation fixation and expression

Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins.

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Cheri A Schaaf

2009-07-01

Full Text Available The cohesin protein complex was first recognized for holding sister chromatids together and ensuring proper chromosome segregation. Cohesin also regulates gene expression, but the mechanisms are unknown. Cohesin associates preferentially with active genes, and is generally absent from regions in which histone H3 is methylated by the Enhancer of zeste [E(z] Polycomb group silencing protein. Here we show that transcription is hypersensitive to cohesin levels in two exceptional cases where cohesin and the E(z-mediated histone methylation simultaneously coat the entire Enhancer of split and invected-engrailed gene complexes in cells derived from Drosophila central nervous system. These gene complexes are modestly transcribed, and produce seven of the twelve transcripts that increase the most with cohesin knockdown genome-wide. Cohesin mutations alter eye development in the same manner as increased Enhancer of split activity, suggesting that similar regulation occurs in vivo. We propose that cohesin helps restrain transcription of these gene complexes, and that deregulation of similarly cohesin-hypersensitive genes may underlie developmental deficits in Cornelia de Lange syndrome.

Enhanced stimulation of chromosomal translocations and sister chromatid exchanges by either HO-induced double-strand breaks or ionizing radiation in Saccharomyces cerevisiae yku70 mutants

International Nuclear Information System (INIS)

Fasullo, Michael; St Amour, Courtney; Zeng Li

2005-01-01

DNA double-strand break (DSB) repair occurs by homologous recombination (HR) or non-homologous endjoining (NHEJ). In Saccharomyces cerevisiae, expression of both MAT a and MATα inhibits NHEJ and facilitates DSB-initiated HR. We previously observed that DSB-initiated recombination between two his3 fragments, his3-Δ5' and his3-Δ3'::HOcs is enhanced in haploids and diploids expressing both MAT a and MATα genes, regardless of the position or orientation of the his3 fragments. Herein, we measured frequencies of DNA damage-associated translocations and sister chromatid exchanges (SCEs) in yku70 haploid mutants, defective in NHEJ. Translocation and SCE frequencies were measured in strains containing the same his3 fragments after DSBs were made directly at trp1::his3-Δ3'::HOcs. Wild type and yku70 cells were also exposed to ionizing radiation and radiomimetic agents methyl methanesulfonate (MMS), phleomycin, and 4-nitroquinolone-1-oxide (4-NQO). Frequencies of X-ray-associated and DSB-initiated translocations were five-fold higher in yku70 mutants compared to wild type; however, frequencies of phleomycin-associated translocations were lower in the yku70 haploid mutant. Frequencies of DSB-initiated SCEs were 1.8-fold higher in the yku70 mutant, compared to wild type. Thus, DSB-initiated HR between repeated sequences on non-homologous chromosomes and sister chromatids occurs at higher frequencies in yku70 haploid mutants; however, higher frequencies of DNA damage-associated HR in yku70 mutants depend on the DNA damaging agent

76 FR 55209 - National Ovarian Cancer Awareness Month, 2011

Science.gov (United States)

2011-09-07

... month, we remember the mothers, sisters, and daughters we have lost to ovarian cancer, and we extend our... the women, families, and professionals working to end this disease. The Centers for Disease Control...

Familial pseudoxanthoma elasticum associated with multiple comedones

OpenAIRE

Maarouf, Melody; Sharon, Victoria R; Sivamani, Raja K; Prakash, Neha; Bipin, TH; Davis, Tracy; Shi, Vivian Y

2017-01-01

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic...

A preliminary molecular phylogeny of planthoppers (Hemiptera: Fulgoroidea based on nuclear and mitochondrial DNA sequences.

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Nan Song

Full Text Available The planthopper superfamily Fulgoroidea (Insecta: Hemiptera is one of the most dominant groups of phytophagous insects. It comprises about 20 families, containing a total of 9000 species worldwide. Despite several recent studies, the phylogeny of Fulgoroidea is not yet satisfactorily resolved and the phylogenetic positions of several key families, especially Cixiidae, Delphacidae, Tettigometridae, Nogodinidae, Acanaloniidae and Issidae, are contentious. Here, we expand upon recent phylogenetic work using additional nuclear (18S and 28S and novel mitochondrial (16S and cytb markers. Maximum likelihood and Bayesian analyses yielded robust phylogenetic trees. In these topologies, a group containing Cixiidae and Delphacidae is recovered as the sister group to the remaining taxa. Tettigometridae is placed in a more nested position and is grouped with Caliscelidae. Sister relationships are found between Flatidae and Ricaniidae, and between Dictyopharidae and Fulgoridae. Nogodinidae and Issidae are confirmed to be non-monophyletic families. For major nodes of interest, divergence date estimates are generally older than those from the fossil record.

A comparative investigation of DNA strand breaks, sister chromatid exchanges and K-ras gene mutations induced by cadmium salts in cultured human cells

International Nuclear Information System (INIS)

Mouron, Silvana Andrea; Grillo, Claudia Alejandra; Dulout, Fernando Noel; Golijow, Carlos Daniel

2004-01-01

Cadmium (Cd) is a toxic heavy metal of continuing occupational and environmental concern with a wide variety of adverse effects. Several studies have shown that cadmium produces DNA strand breaks, DNA-protein cross-links, oxidative DNA damage, chromosomal aberrations, dysregulation of gene expression resulting in enhanced proliferation, depressed apoptosis and/or altered DNA repair. This study was undertaken to investigate the ability of cadmium chloride (CdCl 2 ) and cadmium sulphate (CdSO 4 ) to induce point mutations in codon 12 of the K-ras protooncogene assessed by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP) and RFLP-enriched PCR methods. Also their genotoxic effects were analyzed by the comet assay and sister chromatid exchanges test. The human lung fibroblast cell line MRC-5 was used for the experiments. Sister chromatid exchanges assay (SCEs) frequencies were significantly increased in cells exposed to cadmium salts in relation to controls (p < 0.001). Despite the slow increment observed in the three comet parameters considered when cells were treated with cadmium chloride, significant differences between groups were only found in the variable comet moment (CM) (p < 0.005). On the other hand, when cells were exposed to cadmium sulphate, the Kruskal-Wallis test showed highly significant differences between groups for migration, tail moment and comet moment parameters (p < 0.001). Nevertheless, a null or weak point mutation induction in K-ras protooncogene was detected using polymerase chain reaction-low ionic strength-single strand conformation polymorphisms (PCR-LIS-SSCP) and RFLP-enriched PCR methods when cells were treated with cadmium salts. Thus, inorganic cadmium produces genotoxicity in human lung fibroblast MRC-5 cells, in the absence of significant point mutation of the K-ras gene

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

Science.gov (United States)

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

My sister's keeper?: genomic research and the identifiability of siblings

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Kohane Isaac S

2008-07-01

Full Text Available Abstract Background Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified. Methods We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy. Results Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency ≤ 0.20, (N = 452684, 65.1% we achieve 91.9% inference accuracy for sibling genotypes. Conclusion These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.

What Is Cardiomyopathy?

Science.gov (United States)

... underlying conditions, such as diabetes and high blood pressure . Cardiomyopathy often runs in families. Your doctor may suggest that your parents, brothers and sisters, and children get checked to see whether they have the ...

Continuity, commitment and context: adult siblings of people with autism plus learning disability.

Science.gov (United States)

Tozer, Rosemary; Atkin, Karl; Wenham, Aniela

2013-09-01

Sibling relationships are usually lifelong and reciprocal. They can assume particular significance when a brother or sister has a learning disability. Until recently, adult siblings of people with disabilities such as severe autism have been ignored by policy, practice and research. This qualitative study contributes to an emerging literature by exploring how adult siblings, who have a brother or sister with autism (plus learning disability) and living in England, give meaning to their family (and caring) relationships and engage with service delivery. We spoke to 21 adult siblings using semi-structured interviews and met with 12 of their siblings with autism. Our analysis, using a broad narrative approach, demonstrates the continuity of the sibling relationship and an enduring personalised commitment. The nature of this relationship, however, is sensitive to context. How non-disabled adult siblings relate to their childhood experience is fundamental when making sense of this, as is their need to fulfil other social and family obligations, alongside their 'sense of duty' to support their disabled brother or sister. Sibling experience was further mediated by negotiating their 'perceived invisibility' in social care policy and practice. Our work concludes that by understanding the way relationships between siblings have developed over time, adult siblings' contribution to the lives of their brother or sister with autism can be better supported for the benefit of both parties. Such an approach would support current policy developments. © 2013 John Wiley & Sons Ltd.

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

DEFF Research Database (Denmark)

Sehested, Line T; Møller, Rikke S; Bache, Iben

2010-01-01

We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphi...... patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.......We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...... and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2¿Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our...

A Path to Freedom——Life of black women in The Color Purple

Institute of Scientific and Technical Information of China (English)

袁丽丹

2005-01-01

Alice Walker sThe Color Purple,published in 1982,tells the story of Celie,ablack woman in the South.Celie was a blackwoman growing up in the South.She mustovercome masogeny,racism and poverty toestablish herself as an independent person.Thenovel also follows the maturation of her sisterNettie and the lives of Shug,Albert,and muchof his extended family.Celie writes letters toGodin which she tells about her life-her roles asdaughter,wife,sister,and mother.In thecourse of her story,Celie meets a series of othe...

Health assessment of gasoline and fuel oxygenate vapors: micronucleus and sister chromatid exchange evaluations.

Science.gov (United States)

Schreiner, Ceinwen A; Hoffman, Gary M; Gudi, Ramadevi; Clark, Charles R

2014-11-01

Micronucleus and sister chromatid exchange (SCE) tests were performed for vapor condensate of baseline gasoline (BGVC), or gasoline with oxygenates, methyl tert-butyl ether (G/MTBE), ethyl tert butyl ether (G/ETBE), t-amyl methyl ether (G/TAME), diisopropyl ether (G/DIPE), t-butyl alcohol (TBA), or ethanol (G/EtOH). Sprague Dawley rats (the same 5/sex/group for both endpoints) were exposed to 0, 2000, 10,000, or 20,000mg/m(3) of each condensate, 6h/day, 5days/week over 4weeks. Positive controls (5/sex/test) were given cyclophosphamide IP, 24h prior to sacrifice at 5mg/kg (SCE test) and 40mg/kg (micronucleus test). Blood was collected from the abdominal aorta for the SCE test and femurs removed for the micronucleus test. Blood cell cultures were treated with 5μg/ml bromodeoxyuridine (BrdU) for SCE evaluation. No significant increases in micronucleated immature erythrocytes were observed for any test material. Statistically significant increases in SCE were observed in rats given BGVC alone or in female rats given G/MTBE. G/TAME induced increased SCE in both sexes at the highest dose only. Although DNA perturbation was observed for several samples, DNA damage was not expressed as increased micronuclei in bone marrow cells. Inclusion of oxygenates in gasoline did not increase the effects of gasoline alone or produce a cytogenetic hazard. Copyright © 2014 Elsevier Inc. All rights reserved.

VEGF(121)b, a new member of the VEGF(xxx)b family of VEGF-A splice isoforms, inhibits neovascularisation and tumour growth in vivo.

Science.gov (United States)

Rennel, E S; Varey, A H R; Churchill, A J; Wheatley, E R; Stewart, L; Mather, S; Bates, D O; Harper, S J

2009-10-06

The key mediator of new vessel formation in cancer and other diseases is VEGF-A. VEGF-A exists as alternatively spliced isoforms - the pro-angiogenic VEGF(xxx) family generated by exon 8 proximal splicing, and a sister family, termed VEGF(xxx)b, exemplified by VEGF(165)b, generated by distal splicing of exon 8. However, it is unknown whether this anti-angiogenic property of VEGF(165)b is a general property of the VEGF(xxx)b family of isoforms. The mRNA and protein expression of VEGF(121)b was studied in human tissue. The effect of VEGF(121)b was analysed by saturation binding to VEGF receptors, endothelial migration, apoptosis, xenograft tumour growth, pre-retinal neovascularisation and imaging of biodistribution in tumour-bearing mice with radioactive VEGF(121)b. The existence of VEGF(121)b was confirmed in normal human tissues. VEGF(121)b binds both VEGF receptors with similar affinity as other VEGF isoforms, but inhibits endothelial cell migration and is cytoprotective to endothelial cells through VEGFR-2 activation. Administration of VEGF(121)b normalised retinal vasculature by reducing both angiogenesis and ischaemia. VEGF(121)b reduced the growth of xenografted human colon tumours in association with reduced microvascular density, and an intravenous bolus of VEGF(121)b is taken up into colon tumour xenografts. Here we identify a second member of the family, VEGF(121)b, with similar properties to those of VEGF(165)b, and underline the importance of the six amino acids of exon 8b in the anti-angiogenic activity of the VEGF(xxx)b isoforms.

Sister chromatid exchange analysis and chromosoma aberration studies in interventional cardiology laboratory workers. One year follow up study

International Nuclear Information System (INIS)

Erol, M.K.; Oztas, S.; Bozkurt, E.; Karakelleoglu, S.

2002-01-01

Invasive cardiology laboratory workers are occupationally exposed to chronic ionizing radiation. It is known that ionizing radiation has a damaging effect on chromosomes. In present study, we investigated the frequency of sister chromatid exchange (SCE) and chromosomal aberrations in 11 invasive cardiology laboratory workers and 11 healthy controls. After a vacation period, we took blood samples for chromosome analysis in months 0, 4, 8 and 12 (last two month period was the nonradiation time). The SCE frequencies did not change significantly after exposure to ionizing radiation in any worker. Our study has revealed that non-specific structural chromosome aberrations such as gaps, isogaps, acentric chromosomes, chromatids and chromosome breakage could be in the 4th and 8th months after ionizing radiation exposure in the metaphase plaques. All abnormal chromosomal effects had disappeared by the end of the two month non-exposure period in each worker. In conclusion, the results suggest that SCE frequencies are not significantly affected in invasive cardiology laboratory workers who are exposed occupationally to ionizing radiation, although some degree of reversible chromosomal aberrations did appear. (author)

Effect of chlorophyllin on frequency radiation-induced of sister chromatid exchanges (SCE) and other cytogenetic events in mice bone marrow cells In Vivo

International Nuclear Information System (INIS)

Garcia Rodriguez, M.C.

1992-01-01

The effect of chlorophyllin on gamma radiation induced Sister chromatid exchanges (SCE) and on the mitotic index (IM) and average generation time was determined. Groups of mice were treated in one of the following regimens: (1) untreated, (2) treated with chlorophyllin only, (3) irradiated and (4) treated with chlorophyllin and irradiated intraperitoneal administration of chlorophyllin preceding gamma radiation exposure protected again SCE induction and diminution of IM. However, radioprotection was not reflected in the average generation time for the chlorophyllin per se acceleration the average generation time. The results suggest that, under the experimental conditions of the study the SCE and IM are caused by free radicals produced by radiation and wat the action mechanics of chlorophyllin is scavenger free radicals. (Author)

Large-scale phylogenomic analysis resolves a backbone phylogeny in ferns

Science.gov (United States)

Shen, Hui; Jin, Dongmei; Shu, Jiang-Ping; Zhou, Xi-Le; Lei, Ming; Wei, Ran; Shang, Hui; Wei, Hong-Jin; Zhang, Rui; Liu, Li; Gu, Yu-Feng; Zhang, Xian-Chun; Yan, Yue-Hong

2018-01-01

Abstract Background Ferns, originated about 360 million years ago, are the sister group of seed plants. Despite the remarkable progress in our understanding of fern phylogeny, with conflicting molecular evidence and different morphological interpretations, relationships among major fern lineages remain controversial. Results With the aim to obtain a robust fern phylogeny, we carried out a large-scale phylogenomic analysis using high-quality transcriptome sequencing data, which covered 69 fern species from 38 families and 11 orders. Both coalescent-based and concatenation-based methods were applied to both nucleotide and amino acid sequences in species tree estimation. The resulting topologies are largely congruent with each other, except for the placement of Angiopteris fokiensis, Cheiropleuria bicuspis, Diplaziopsis brunoniana, Matteuccia struthiopteris, Elaphoglossum mcclurei, and Tectaria subpedata. Conclusions Our result confirmed that Equisetales is sister to the rest of ferns, and Dennstaedtiaceae is sister to eupolypods. Moreover, our result strongly supported some relationships different from the current view of fern phylogeny, including that Marattiaceae may be sister to the monophyletic clade of Psilotaceae and Ophioglossaceae; that Gleicheniaceae and Hymenophyllaceae form a monophyletic clade sister to Dipteridaceae; and that Aspleniaceae is sister to the rest of the groups in eupolypods II. These results were interpreted with morphological traits, especially sporangia characters, and a new evolutionary route of sporangial annulus in ferns was suggested. This backbone phylogeny in ferns sets a foundation for further studies in biology and evolution in ferns, and therefore in plants. PMID:29186447

Large-scale phylogenomic analysis resolves a backbone phylogeny in ferns.

Science.gov (United States)

Shen, Hui; Jin, Dongmei; Shu, Jiang-Ping; Zhou, Xi-Le; Lei, Ming; Wei, Ran; Shang, Hui; Wei, Hong-Jin; Zhang, Rui; Liu, Li; Gu, Yu-Feng; Zhang, Xian-Chun; Yan, Yue-Hong

2018-02-01

Ferns, originated about 360 million years ago, are the sister group of seed plants. Despite the remarkable progress in our understanding of fern phylogeny, with conflicting molecular evidence and different morphological interpretations, relationships among major fern lineages remain controversial. With the aim to obtain a robust fern phylogeny, we carried out a large-scale phylogenomic analysis using high-quality transcriptome sequencing data, which covered 69 fern species from 38 families and 11 orders. Both coalescent-based and concatenation-based methods were applied to both nucleotide and amino acid sequences in species tree estimation. The resulting topologies are largely congruent with each other, except for the placement of Angiopteris fokiensis, Cheiropleuria bicuspis, Diplaziopsis brunoniana, Matteuccia struthiopteris, Elaphoglossum mcclurei, and Tectaria subpedata. Our result confirmed that Equisetales is sister to the rest of ferns, and Dennstaedtiaceae is sister to eupolypods. Moreover, our result strongly supported some relationships different from the current view of fern phylogeny, including that Marattiaceae may be sister to the monophyletic clade of Psilotaceae and Ophioglossaceae; that Gleicheniaceae and Hymenophyllaceae form a monophyletic clade sister to Dipteridaceae; and that Aspleniaceae is sister to the rest of the groups in eupolypods II. These results were interpreted with morphological traits, especially sporangia characters, and a new evolutionary route of sporangial annulus in ferns was suggested. This backbone phylogeny in ferns sets a foundation for further studies in biology and evolution in ferns, and therefore in plants. © The Authors 2017. Published by Oxford University Press.

Ethical Dilemma and Management of Infertility in HIV Seropositive ...

African Journals Online (AJOL)

aunts, uncles, sisters, brothers and in‑laws all work as a unit through life. Family relationships are guided by hierarchy and seniority. Individuals .... Nevertheless, the physician has to weigh the balance of the ... Ethical issues in professional life.

Yoga for High‑Risk Pregnancy: A Randomized Controlled Trial

African Journals Online (AJOL)

assess yoga therapy (YT) module on maternal stress level in high risk pregnancy. .... i.e., 35 years, (6) BMI > 30, (7) family history (sister, ... neurosis, addictions, etc. ... 68 patients were allocated to two treatment groups: Yoga (n= 30),.

Family history and the risk of stomach cancer death in Japan: differences by age and gender.

Science.gov (United States)

Yatsuya, Hiroshi; Toyoshima, Hideaki; Mizoue, Tetsuya; Kondo, Takaaki; Tamakoshi, Koji; Hori, Yoko; Tokui, Noritaka; Hoshiyama, Yoshiharu; Kikuchi, Shogo; Sakata, Kiyomi; Hayakawa, Norihiko; Tamakoshi, Akiko; Ohno, Yoshiyuki; Yoshimura, Takesumi

2002-02-10

Familial aggregation of stomach cancer has long been observed. The effect on disease risk of family history and its magnitude according to the type of affected relatives, however, is not well known. We conducted a prospective analysis using the JACC study (Japan Collaborative Cohort Study For Evaluation of Cancer Risk, sponsored by Monbusho) data. During the follow-up period, 662 stomach cancer deaths were documented. A positive history of stomach cancer in one or more first-degree relatives was associated with a significantly increased risk of death from the disease in both men (RR 1.60; 95% CI 1.11-2.31) and women (RR 2.47; 95% CI 1.50-4.06). In the subanalysis stratified by age, the association between positive family history and stomach cancer was stronger in the age group from 40-59 (RR 2.62; 95% CI 1.34-5.11 for men and RR 5.88; 95% CI 2.70-12.82 for women) than in the age group from 60-79 (RR 1.31; 95% CI 0.84-2.05 for men and RR 1.44; 95% CI 0.72-2.88 for women). In the age group from 40-59, men with father's history and women with mother's and sister's history of the disease had a significantly increased risk (RR 3.14; 95% CI 1.51-6.55, RR 10.46; 95% CI 4.54-24.12, RR 13.39; 95% CI 3.89-46.12, respectively). When 2 or more family members were affected, the increment in the risk was prominent especially in women (RR 9.45; 95% CI 4.46-20.05). These results suggest the existence of a certain subtype of stomach cancer that is inherited more often by women from one generation to the next in gender-influenced fashion. Any preventive strategy should take into account the degree of individual susceptibility. Copyright 2001 Wiley-Liss, Inc.

Adult siblings of individuals with Down syndrome versus with autism: findings from a large-scale US survey.

Science.gov (United States)

Hodapp, R M; Urbano, R C

2007-12-01

As adults with Down syndrome live increasingly longer lives, their adult siblings will most likely assume caregiving responsibilities. Yet little is known about either the sibling relationship or the general functioning of these adult siblings. Using a national, web-based survey, this study compared adult siblings of individuals with Down syndrome to siblings of individuals with autism in terms of a potential 'Down syndrome advantage' and changes across age of the brother/sister with disabilities. Two groups were examined, siblings of persons with Down syndrome (n = 284) and with autism (n = 176). The Adult Sibling Questionnaire measured the number and length of contacts between siblings and their brothers/sisters with disabilities; the warmth, closeness and positiveness of the sibling relationship; and the sibling's overall levels of perceived health, depression and rewards of being a sibling. Compared with siblings of brothers/sisters with autism, siblings of brothers/sisters with Down syndrome showed closer, warmer sibling relationships, along with slightly better health, lower levels of depressive symptoms and more contacts. Across age groups of the brother/sister with disabilities, both groups showed lessened contacts, with less close sibling relationships occurring when brothers/sisters with disabilities were aged 30-44 years and 45 years and older (in Down syndrome) and 45 years and older (in autism). Within both groups, closer sibling relationships were associated with more frequent and lengthy contacts, brothers/sisters with disabilities who were better at maintaining friendships and had lower levels of behavioural/emotional problems, and siblings who felt themselves more rewarded by being a sibling to a brother/sister with disabilities. In line with earlier work on families of children with disabilities, this study shows an advantage for siblings of adults with Down syndrome, in terms of both sibling relationships and of slightly better health and

[Jealousy between siblings in early childhood. Nursing assessment based on a case study].

Science.gov (United States)

Puig-Plana, María Pilar

2010-01-01

Childhood jealousy, when a little brother or sister is born, has always been a subject treated within the family environment. Parent's attitude in their interaction with their offspring may increase the response of the jealous child. The emotional expressions of the jealous child may lead to behaviour changes, that may occasionally put the physical integrity of the newborn at risk, since it is the most vulnerable in the family group. In view of the above mentioned, a case of a three-year-old child living with his parents and his nine-month-old sister, is presented. The child shows characteristic behaviour changes of jealousy, such as, rebelliousness, aggressiveness and hyperactivity. The brother's psychomotor discomfort leads to a proneness to accidents for the baby girl and the obvious parental concern. For these reasons nursing intervention in the family group was proposed, based on the theoretical Virginia Henderson Needs Model. The actions will come from the older brother and parents. The aim of the nursing intervention is to lead the behaviour changes in order to re-establish a safe and healthy family environment. Copyright 2009 Elsevier España, S.L. All rights reserved.

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.

Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

Directory of Open Access Journals (Sweden)

Dongyan Fan

Full Text Available Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of captured target exons was conducted in one Tibetan family with familiar hearing loss. A homozygous mutation, TMPRSS3: c.535G>A, was identified in two affected brothers. Both parents are heterozygotes and an unaffected sister carries wild type alleles. The same mutation was not detected in 101 control Tibetan individuals. This missense mutation results in an amino acid change (p.Ala179Thr at a highly conserved site in the scavenger receptor cysteine rich (SRCR domain of the TMPRSS3 protein, which is essential for protein-protein interactions. Thus, this mutation likely affects the interactions of this transmembrane protein with extracellular molecules. According to our bioinformatic analyses, the TMPRSS3: c.535G>A mutation might damage protein function and lead to hearing loss. These data suggest that the homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family. This is the first TMPRSS3 mutation found in the Chinese Tibetan population.

Family Violence and Family Physicians

Science.gov (United States)

Herbert, Carol P.

1991-01-01

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

12 CFR 212.2 - Definitions.

Science.gov (United States)

2010-01-01

... person whose management functions relate exclusively to the business of retail merchandising or... Banking FEDERAL RESERVE SYSTEM BOARD OF GOVERNORS OF THE FEDERAL RESERVE SYSTEM MANAGEMENT OFFICIAL... immediate family. “Immediate family” means spouse, mother, father, child, grandchild, sister, brother, or...

Primary Ovarian Insufficiency

Science.gov (United States)

... can raise a woman's risk of POI: Family history. Women who have a mother or sister with POI ... estrogen helps keep bones strong. Without enough estrogen, women with POI often ... medical history, including asking whether you have relatives with POI ...

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

Science.gov (United States)

Trangkasombat, Umaporn

2006-11-01

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

Assessment of DNA Damage in Peripheral Blood Lymphocytes of Radiation Workers at Al-Tuwaitha Site by Using the Sister Chromatid Exchange and the Comet Assay

International Nuclear Information System (INIS)

Ali, A.K.; Muttar, A.J.; Khayon, S.K.; Haider, Y.L.; Ali, H.F.; Abdullah, A.K.

2015-01-01

The sister chromatid exchange was performed on peripheral blood lymphocytes obtained from 40 individuals of workers occupationally exposed to low ionizing radiation doses in Al-Tuwaitha site due to decommissioning to radioactive contamination then compared with 40 control individuals living in Baghdad. SCEs were scored in metaphase chromosomes were identified by fluorescent plus Giemsa staining (Figure 2).The mean frequencies of SCEs per cell differed significantly (p≺0 0.05) between individuals of radiation workers and control, being 7.78 0.45 SCE/cells and 6.28 0.22 SCE/cells , respectively. However SCE frequency was statistically significant (P≺0 0.05) among radiation workers as compared to control individuals.

The mitochondrial genome of Paraspadella gotoi is highly reduced and reveals that chaetognaths are a sister-group to protostomes

Energy Technology Data Exchange (ETDEWEB)

Helfenbein, Kevin G.; Fourcade, H. Matthew; Vanjani, Rohit G.; Boore, Jeffrey L.

2004-05-01

We report the first complete mitochondrial (mt) DNA sequence from a member of the phylum Chaetognatha (arrow worms). The Paraspadella gotoi mtDNA is highly unusual, missing 23 of the genes commonly found in animal mtDNAs, including atp6, which has otherwise been found universally to be present. Its 14 genes are unusually arranged into two groups, one on each strand. One group is punctuated by numerous non-coding intergenic nucleotides, while the other group is tightly packed, having no non-coding nucleotides, leading to speculation that there are two transcription units with differing modes of expression. The phylogenetic position of the Chaetognatha within the Metazoa has long been uncertain, with conflicting or equivocal results from various morphological analyses and rRNA sequence comparisons. Comparisons here of amino acid sequences from mitochondrially encoded proteins gives a single most parsimonious tree that supports a position of Chaetognatha as sister to the protostomes studied here. From this, one can more clearly interpret the patterns of evolution of various developmental features, especially regarding the embryological fate of the blastopore.

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

Science.gov (United States)

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.

Comparative mitogenomics of Braconidae (Insecta: Hymenoptera) and the phylogenetic utility of mitochondrial genomes with special reference to Holometabolous insects

Science.gov (United States)

2010-01-01

Background Animal mitochondrial genomes are potential models for molecular evolution and markers for phylogenetic and population studies. Previous research has shown interesting features in hymenopteran mitochondrial genomes. Here, we conducted a comparative study of mitochondrial genomes of the family Braconidae, one of the largest families of Hymenoptera, and assessed the utility of mitochondrial genomic data for phylogenetic inference at three different hierarchical levels, i.e., Braconidae, Hymenoptera, and Holometabola. Results Seven mitochondrial genomes from seven subfamilies of Braconidae were sequenced. Three of the four sequenced A+T-rich regions are shown to be inverted. Furthermore, all species showed reversal of strand asymmetry, suggesting that inversion of the A+T-rich region might be a synapomorphy of the Braconidae. Gene rearrangement events occurred in all braconid species, but gene rearrangement rates were not taxonomically correlated. Most rearranged genes were tRNAs, except those of Cotesia vestalis, in which 13 protein-coding genes and 14 tRNA genes changed positions or/and directions through three kinds of gene rearrangement events. Remote inversion is posited to be the result of two independent recombination events. Evolutionary rates were lower in species of the cyclostome group than those of noncyclostomes. Phylogenetic analyses based on complete mitochondrial genomes and secondary structure of rrnS supported a sister-group relationship between Aphidiinae and cyclostomes. Many well accepted relationships within Hymenoptera, such as paraphyly of Symphyta and Evaniomorpha, a sister-group relationship between Orussoidea and Apocrita, and monophyly of Proctotrupomorpha, Ichneumonoidea and Aculeata were robustly confirmed. New hypotheses, such as a sister-group relationship between Evanioidea and Aculeata, were generated. Among holometabolous insects, Hymenoptera was shown to be the sister to all other orders. Mecoptera was recovered as the

Comparative mitogenomics of Braconidae (Insecta: Hymenoptera and the phylogenetic utility of mitochondrial genomes with special reference to Holometabolous insects

Directory of Open Access Journals (Sweden)

Shi Min

2010-06-01

Full Text Available Abstract Background Animal mitochondrial genomes are potential models for molecular evolution and markers for phylogenetic and population studies. Previous research has shown interesting features in hymenopteran mitochondrial genomes. Here, we conducted a comparative study of mitochondrial genomes of the family Braconidae, one of the largest families of Hymenoptera, and assessed the utility of mitochondrial genomic data for phylogenetic inference at three different hierarchical levels, i.e., Braconidae, Hymenoptera, and Holometabola. Results Seven mitochondrial genomes from seven subfamilies of Braconidae were sequenced. Three of the four sequenced A+T-rich regions are shown to be inverted. Furthermore, all species showed reversal of strand asymmetry, suggesting that inversion of the A+T-rich region might be a synapomorphy of the Braconidae. Gene rearrangement events occurred in all braconid species, but gene rearrangement rates were not taxonomically correlated. Most rearranged genes were tRNAs, except those of Cotesia vestalis, in which 13 protein-coding genes and 14 tRNA genes changed positions or/and directions through three kinds of gene rearrangement events. Remote inversion is posited to be the result of two independent recombination events. Evolutionary rates were lower in species of the cyclostome group than those of noncyclostomes. Phylogenetic analyses based on complete mitochondrial genomes and secondary structure of rrnS supported a sister-group relationship between Aphidiinae and cyclostomes. Many well accepted relationships within Hymenoptera, such as paraphyly of Symphyta and Evaniomorpha, a sister-group relationship between Orussoidea and Apocrita, and monophyly of Proctotrupomorpha, Ichneumonoidea and Aculeata were robustly confirmed. New hypotheses, such as a sister-group relationship between Evanioidea and Aculeata, were generated. Among holometabolous insects, Hymenoptera was shown to be the sister to all other orders

Phylogenetic analysis of pelecaniformes (aves based on osteological data: implications for waterbird phylogeny and fossil calibration studies.

Directory of Open Access Journals (Sweden)

Nathan D Smith

2010-10-01

Full Text Available Debate regarding the monophyly and relationships of the avian order Pelecaniformes represents a classic example of discord between morphological and molecular estimates of phylogeny. This lack of consensus hampers interpretation of the group's fossil record, which has major implications for understanding patterns of character evolution (e.g., the evolution of wing-propelled diving and temporal diversification (e.g., the origins of modern families. Relationships of the Pelecaniformes were inferred through parsimony analyses of an osteological dataset encompassing 59 taxa and 464 characters. The relationships of the Plotopteridae, an extinct family of wing-propelled divers, and several other fossil pelecaniforms (Limnofregata, Prophaethon, Lithoptila, ?Borvocarbo stoeffelensis were also assessed. The antiquity of these taxa and their purported status as stem members of extant families makes them valuable for studies of higher-level avian diversification.Pelecaniform monophyly is not recovered, with Phaethontidae recovered as distantly related to all other pelecaniforms, which are supported as a monophyletic Steganopodes. Some anatomical partitions of the dataset possess different phylogenetic signals, and partitioned analyses reveal that these discrepancies are localized outside of Steganopodes, and primarily due to a few labile taxa. The Plotopteridae are recovered as the sister taxon to Phalacrocoracoidea, and the relationships of other fossil pelecaniforms representing key calibration points are well supported, including Limnofregata (sister taxon to Fregatidae, Prophaethon and Lithoptila (successive sister taxa to Phaethontidae, and ?Borvocarbo stoeffelensis (sister taxon to Phalacrocoracidae. These relationships are invariant when 'backbone' constraints based on recent avian phylogenies are imposed.Relationships of extant pelecaniforms inferred from morphology are more congruent with molecular phylogenies than previously assumed, though

Molecular phylogeny of the manakins (Ayes: Passeriformes: Pipridae), with a new classification and the description of a new genus

DEFF Research Database (Denmark)

Ohlson, Jan I.; Fjeldså, Jon; Ericson, Per G. P.

2013-01-01

The phylogenetic relationships within the manakin family (Pipridae) were investigated with sequence data from three nuclear introns and one mitochondrial protein-coding gene. This study confirms a sister group relationship between Neopelminae and Piprinae. We also find support for dividing the Pi...

Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves

NARCIS (Netherlands)

Groen, R J; Sie, O G; van Weerden, T W

The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

Science.gov (United States)

Baas, Annette F; Spiering, Wilko; Moll, Frans L; Page-Christiaens, Lieve; Beenakkers, Ingrid C M; Dooijes, Dennis; Vonken, Evert-Jan P A; van der Smagt, Jasper J; Knoers, Nine V; Koenen, Steven V; van Herwaarden, Joost A; Sieswerda, Gertjan Tj

2017-02-01

Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c.980G>A; p. Gly327Asp). She had had three uneventful vaginal deliveries. At the time of diagnosis, her 33-year-old niece was 25 weeks pregnant. She had had one uneventful vaginal delivery. Targeted DNA-analysis revealed that she was carrier of the COL3A1 mutation. Ultrasound detected an aneurysm in the abdominal aorta with likely a dissection. An uneventful elective cesarean section was performed at a gestational age of 37 weeks. The 40-year-old sister of our proband had had one uneventful vaginal delivery and an active pregnancy wish. Cascade DNA-screening showed her to carry the COL3A1 mutation. Computed Tomography Angiography (CTA) of her aorta revealed a type B dissection with the most proximal entry tear just below the superior mesenteric artery. Pregnancy was therefore discouraged. This familial case illustrates the complexity and challenges of reproductive decision-making in a potentially lethal condition as vEDS, and highlights the importance of a multidisciplinary approach. Moreover, it suggests that previous pregnancy-related risks of vEDS may be overestimated. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

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P. Yazdanpanah

2004-01-01

Full Text Available Emery-Dreifuss muscular dystrophy (EDMDcan be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive. The classic triad of this disease are: 1-early contractures, particularly of the elbows, achilles tendons, and posterior cervical muscles; 2-cardiac conduction defects ;and 3- a slowly progressive weakness and atrophy in a humeroperoneal distribution. The early onset of contractures before the onset of any significant weakness is unique to this disease. This case study was done in two 12 and 3.5 years old brothers and their 8 years old sister in a family. The first one referred to the medical center because of his weakness muscles of shoulders and arms. The second case was referred with tip toe walking which has been started 8 months ago. The third case was referred with difficulties in walking and sitting and surgery on achilles tendons for her and the first case was performed at 4 and 8 years ago respectively. In physical examination contractures of achilles tendons , weakness of pelvic girdle muscles, positive gowers sign and tip toe walking were observed in all three cases . Echocardiogram in both boys and CK enzyme in all 3 patients were normal. In ECGs atrial flutter with 3:1 AV block was seen in all 3 individuals. Muscle biopsy was nonspecific in the first case and mild focal atrophy was seen in the second case. Findings of myopathic patterns in electromyography were seen in all 3 patients. The genetic pattern of EDMD in this family is autosomal dominant. Stretching exercises and modalities such as ultrasound and hot pack were applied for these cases. The second was not responded and surgery of achilles tendons release was recommended for him.

Strengthening Family Practices for Latino Families.

Science.gov (United States)

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

2010-01-01

The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

The roles of adult siblings in the lives of people with severe intellectual and developmental disabilities.

Science.gov (United States)

Hall, Sarah A; Rossetti, Zach

2018-05-01

Siblings of people with intellectual and developmental disabilities (IDD) often assume key roles to support their brothers and sisters. For people with more significant support needs, siblings may undertake additional roles and responsibilities throughout their lives. The purpose of the present study was to identify and describe the roles of adult siblings who have a brother or sister with severe IDD. Seventy-nine adult siblings from 19 to 72 years of age completed an online survey with open-ended questions about the roles they play in their relationships with their brother or sister. Thematic analysis resulted in identification of several roles including caregiver, friend (social partner), advocate, legal representative, sibling (teacher/role model), leisure planner and informal service coordinator. Siblings assume key roles in the lives of people with IDD and need support from family and professionals to perform these roles. © 2017 John Wiley & Sons Ltd.

Effects of residential instability on Head Start children and their relationships with older siblings: influences of child emotionality and conflict between family caregivers.

Science.gov (United States)

Stoneman, Z; Brody, G H; Churchill, S L; Winn, L L

1999-01-01

This study examined the influence that residential dislocations have on child behavior problems, depression, peer competence, cognitive competence, and the quality of sibling relations in a sample of 70 Head Start children, aged 32 to 67 months, and their older brothers and sisters, aged 48 to 155 months. This was the first study to investigate the sibling relationship in the context of high residential mobility. Information on child characteristics was obtained from mothers and teachers. Sibling data (warmth/harmony and conflict) were obtained from coding videotaped interactions. Child emotionality was found to be an important moderator of the effects of residential mobility on young, poor children and their siblings; caregiver conflict was a less powerful moderator of these effects. Residential instability seemed to compromise the warmth/harmony of the sibling relationship. It was concluded that the effects of residential instability are complex and cannot be understood without considering child characteristics, such as temperament, and the family context in which the child lives.

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.

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.

Hypertension in Pregnancy and Future Cardiovascular Event Risk in Siblings

Science.gov (United States)

Turner, Stephen T.; Mosley, Thomas H.; Kardia, Sharon L.R.; Hanis, Craig L.; Milic, Natasa M.; Garovic, Vesna D.

2016-01-01

Hypertension in pregnancy is a risk factor for future hypertension and cardiovascular disease. This may reflect an underlying familial predisposition or persistent damage caused by the hypertensive pregnancy. We sought to isolate the effect of hypertension in pregnancy by comparing the risk of hypertension and cardiovascular disease in women who had hypertension in pregnancy and their sisters who did not using the dataset from the Genetic Epidemiology Network of Arteriopathy study, which examined the genetics of hypertension in white, black, and Hispanic siblings. This analysis included all sibships with at least one parous woman and at least one other sibling. After gathering demographic and pregnancy data, BP and serum analytes were measured. Disease-free survival was examined using Kaplan–Meier curves and Cox proportional hazards regression. Compared with their sisters who did not have hypertension in pregnancy, women who had hypertension in pregnancy were more likely to develop new onset hypertension later in life, after adjusting for body mass index and diabetes (hazard ratio 1.75, 95% confidence interval 1.27–2.42). A sibling history of hypertension in pregnancy was also associated with an increased risk of hypertension in brothers and unaffected sisters, whereas an increased risk of cardiovascular events was observed in brothers only. These results suggest familial factors contribute to the increased risk of future hypertension in women who had hypertension in pregnancy. Further studies are needed to clarify the potential role of nonfamilial factors. Furthermore, a sibling history of hypertension in pregnancy may be a novel familial risk factor for future hypertension. PMID:26315531

Family emotional expressiveness and family structure

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Čotar-Konrad Sonja

2016-01-01

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

Zdraví sourozenci mentálně postižených dětí očima rodičů

OpenAIRE

Fialová, Kristýna

2012-01-01

TITTLE: Healthful brothers and sisters of mental disable children - parent's eyes SUMMARY: The text deals with the specifications of the relationship parent - sibling of a child with mental disabilities. It endeavours after answering the question what parental expectations and demands are placed on siblings in such family situation and how do these demands differ from the approach to a child with mental disabilities. Keywords: Family relationships, Sibling relationships, Mental disability, Ed...

20 CFR 222.44 - Other relationship determinations for lump-sum payments.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false Other relationship determinations for lump... THE RAILROAD RETIREMENT ACT FAMILY RELATIONSHIPS Relationship as Parent, Grandchild, Brother or Sister... have the relationships to the employee shown below for lump-sum payment purposes: (a) Grandchildren. A...

Palpimanid spiders from Guyana: new species of the genera Fernandezina and Otiothops (Araneae, Palpimanidae, Otiothopinae

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Grismado Cristian J.

2002-01-01

Full Text Available Two new species of the spider family Palpimanidae from Guyana are described: Fernandezina takutu, the first species of this genus known from this country andOtiothops giralunas, that seems to be the sister species of O. goloboffi Grismado, 1996 from northwestern Argentina.

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

Science.gov (United States)

Zighelboim, Israel; Powell, Matthew A; Babb, Sheri A; Whelan, Alison J; Schmidt, Amy P; Clendenning, Mark; Senter, Leigha; Thibodeau, Stephen N; de la Chapelle, Albert; Goodfellow, Paul J

2009-01-01

We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister's colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect. This family did not meet clinical criteria for Lynch syndrome. However, early onset endometrial cancers in the proband and her sister, a metachronous colorectal cancer in the sister as well as MSI in endometrial and colonic tumors suggested a heritable mismatch repair defect. PCR-based direct exonic sequencing and multiplex ligation-dependent probe amplification (MLPA) were undertaken to search for PMS2 mutations in the germline DNA from the proband and her sister. No mutation was identified in the PMS2 gene. However, PMS2 exons 3, 4, 13, 14, 15 were not evaluated by MLPA and as such, rearrangements involving those exons cannot be excluded. Clinical testing for MLH1 and MSH2 mutation revealed a germline deletion of MLH1 exons 14 and 15. This MLH1 germline deletion leads to an immunodetectable stable C-terminal truncated MLH1 protein which based on the IHC staining must abrogate PMS2 stabilization. To the best of our knowledge, loss of PMS2 in MLH1 truncating mutation carriers that express MLH1 in their tumors has not been previously reported. This family points to a potential limitation of IHC-directed gene testing for suspected Lynch syndrome and the need to consider comprehensive MLH1 testing for individuals whose tumors lack PMS2 but for whom PMS2 mutations are not identified.

Phylogenetic relationships of rollers (Coraciidae) based on complete mitochondrial genomes and fifteen nuclear genes.

Science.gov (United States)

Johansson, Ulf S; Irestedt, Martin; Qu, Yanhua; Ericson, Per G P

2018-04-06

The rollers (Coraciidae) constitute a relative small avian family with ca. 12 species distributed in Africa, western and southern Eurasia, and eastern Australia. In this study we examine the phylogenetic relationships of all species currently recognized in the family, including two taxa whose taxonomic status is currently contested. By using shotgun sequencing on degraded DNA from museum study skins we have been able to recover complete mitochondrial genomes as well as 15 nuclear genes for in total 16 taxa. The gene sequences were analyzed both concatenated in a maximum likelihood framework as well in a species tree approach using MP-EST. The different analytical approaches yield similar, highly supported trees and support the current division of the rollers into two genera, Coracias and Eurystomus. The only conflict relates to the placement of the Blue-bellied Roller (C. cyanogaster), where the mitochondrial, and the concatenated nuclear and mitochondrial data set, place this taxon as sister to the other Coracias species, whereas nuclear data and the species tree analysis place it as the sister taxon of C. naevia and C. spatulatus. All analyses place the Eurasian roller (C. garrulus) with the two African species, Abyssinian Roller (C. abyssinica) and Liliac-breasted Roller (C. caudatus), and place this clade as the sister group to the Asian Coracias rollers. In addition, our results support a sister group relationship between the morphologically rather dissimilar Purple Roller (C. naevia) and Racquet-tailed Roller (C. spatulatus) and also support the division of Eurystomus in an African and an Asian clade. However, within the Asian clade the Azure Roller (E. azureus) from Halmahera appears to be nested within the Dollarbird (E. orientalis), indicating that that this taxon is a morphological divergent, but a rather recent offshoot, of the widespread Dollarbird. Similarly, the Purple-winged Roller (C. temminickii) from Sulawesi group together with C. benghalensis

Éléments pour une analyse de la fraternité d’accueil dans un contexte de circulation des enfants Elements for an Analysis of Host Foster Families in a Context of Circulation of Children. An Illustration from the ‘île de La Réunion’

Directory of Open Access Journals (Sweden)

Didier Le Gall

2011-02-01

placed children are in a situation resembling that of foster brothers and sisters of recomposed families in the sense that they do not blood relatives. Hence, it is possible to analyze the bonds they may establish as fraternal, and that much more so in that they live together on a daily basis, which is seldom the case of foster brothers and sisters. Basing ourselves on recent works on multi-parentality and recomposed fraternity, the author proposes taking another look at family placement in privileging the angle of the host foster family, and to do this in a context presenting the particularity of having a tradition of circulation of children: the society of the île de la Réunion.

The Problem of Homosexuality: Desire-in-Uneasiness, Friendship, Family, Freedom

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Brian Bergen-Aurand

2016-02-01

Full Text Available Zenne Dancer is a 2011 Turkish film written by Caner Alper and directed by Alper and Mehmet Binay. It is inspired by the story of Ahmet Yildiz, a gay Kurdish Turk allegedly murdered by his father in 2008 for dishonoring his family. Through its depiction of the unlikely friendship between three men, the film addresses the problem of homosexuality, the desire-in-uneasiness evoked by men being together, and the complex social structures of honor killings. In its address of honor killings, Zenne Dancer follows in a prestigious line of some of the best of Turkish and world cinema. Importantly, though, there are differences here as Zenne Dancer reimagines the relationships involved in crimes of honor. First, Zenne Dancer deploys the story of a father killing his son, rather than his daughter, to save the family honor, which is threatened by homosexual desire rather than the loss of virginity or illegitimate pregnancy. Second, rather than pitting the modern state against religion, tradition, or pre-modern culture, Zenne Dancer’s critique of honor killing implicates both the police and the military in the violence done in the name of tradition (not religion. Islam plays a much smaller part than economic deprivation or the trauma of war in this film. Third, the film complicates gendered expectations through its deployment of female characters—mothers, sisters, lovers—who all have their own relationships with and perspectives on these men. The film depicts heteropatriarchy as a system harmful to women and men and shows men and women enforcing and resisting that harm. In the end, Zenne Dancer connects these thematic concerns through a mixture of realist story, dance video, daydream, fairytale, and melodrama in a film ultimately concerned with the care of the self and the meaning of liberation. Thus, it resists falling into fictional “realist anthropology” or simplistic assertions of repression in confronting the complexities of honor killings

The Role of Family in Family Firms

OpenAIRE

Marianne Bertrand; Antoinette Schoar

2006-01-01

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

Family doctors' involvement with families in Estonia

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Lember Margus

2004-10-01

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

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

Science.gov (United States)

Hohashi, Naohiro; Honda, Junko

2011-11-01

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

Families and family therapy in Hong Kong.

Science.gov (United States)

Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

2012-04-01

Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

A comparison of leaf crystal macropatterns in the two sister genera Piper and Peperomia (Piperaceae).

Science.gov (United States)

Horner, Harry T; Wanke, Stefan; Samain, Marie-Stéphanie

2012-06-01

This is the first large-scale study comparing leaf crystal macropatterns of the species-rich sister genera Piper and Peperomia. It focuses on identifying types of calcium oxalate crystals and their macropatterns in leaves of both genera. The Piper results are placed in a phylogenetic context to show evolutionary patterns. This information will expand knowledge about crystals and provide specific examples to help study their form and function. One example is the first-time observation of Piper crystal sand tumbling in chlorenchyma vacuoles. Herbarium and fresh leaves were cleared of cytoplasmic content and examined with polarizing microscopy to identify types of crystals and their macropatterns. Selected hydrated herbarium and fresh leaf punches were processed for scanning electron microscopy and x-ray elemental analysis. Vibratome sections of living Piper and Peperomia leaves were observed for anatomical features and crystal movement. Both genera have different leaf anatomies. Piper displays four crystal types in chlorenchyma-crystal sand, raphides, styloids, and druses, whereas Peperomia displays three types-druses, raphides, and prisms. Because of different leaf anatomies and crystal types between the genera, macropatterns are completely different. Crystal macropattern evolution in both is characterized by increasing complexity, and both may use their crystals for light gathering and reflection for efficient photosynthesis under low-intensity light environments. Both genera have different leaf anatomies, types of crystals and crystal macropatterns. Based on Piper crystals associated with photosynthetic tissues and low-intensity light, further study of their function and association with surrounding chloroplasts is warranted, especially active crystal movement.

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

Science.gov (United States)

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

2018-05-01

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

Using Twins to Better Understand Sibling Relationships.

Science.gov (United States)

Mark, Katharine M; Pike, Alison; Latham, Rachel M; Oliver, Bonamy R

2017-03-01

We compared the nature of the sibling relationship in dyads of varying genetic relatedness, employing a behavioural genetic design to estimate the contribution that genes and the environment have on this familial bond. Two samples were used-the Sisters and Brothers Study consisted of 173 families with two target non-twin children (mean ages = 7.42 and 5.22 years respectively); and the Twins, Family and Behaviour study included 234 families with two target twin children (mean age = 4.70 years). Mothers and fathers reported on their children's relationship with each other, via a postal questionnaire (the Sisters and Brothers Study) or a telephone interview (the Twins, Family and Behaviour study). Contrary to expectations, no mean level differences emerged when monozygotic twin pairs, dizygotic twin pairs, and non-twin pairs were compared on their sibling relationship quality. Behavioural genetic analyses also revealed that the sibling bond was modestly to moderately influenced by the genetic propensities of the children within the dyad, and moderately to substantially influenced by the shared environment common to both siblings. In addition, for sibling negativity, we found evidence of twin-specific environmental influence-dizygotic twins showed more reciprocity than did non-twins. Our findings have repercussions for the broader application of results from future twin-based investigations.

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

Science.gov (United States)

Leenen, C H M; Geurts-Giele, W R R; Dubbink, H J; Reddingius, R; van den Ouweland, A M; Tops, C M J; van de Klift, H M; Kuipers, E J; van Leerdam, M E; Dinjens, W N M; Wagner, A

2011-12-01

Heterozygous germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome. Biallelic mutations in the MMR genes are associated with a childhood cancer syndrome [constitutional mismatch repair deficiency (CMMR-D)]. This is predominantly characterized by hematological malignancies and tumors of the bowel and brain, often associated with signs of neurofibromatosis type 1 (NF1). Diagnostic strategies for selection of patients for MMR gene analysis include analysis of microsatellite instability (MSI) and immunohistochemical (IHC) analysis of MMR proteins in tumor tissue. We report the clinical characterization and molecular analyses of tumor specimens from a family with biallelic PMS2 germline mutations. This illustrates the pitfalls of present molecular screening strategies. Tumor tissues of five family members were analyzed for MSI and IHC. MSI was observed in only one of the analyzed tissues. However, IHC analysis of brain tumor tissue of the index patient and his sister showed absence of PMS2 expression, and germline mutation analyses showed biallelic mutations in PMS2: p.Ser46IIe and p.Pro246fs. The same heterozygous mutations were confirmed in the father and mother, respectively. These data support the conclusion that in case of a clinical phenotype of CMMR-D, it is advisable to routinely combine MSI analysis with IHC analysis for the expression of MMR proteins. With inconclusive or conflicting results, germline mutation analysis of the MMR genes should be considered after thorough counselling of the patients and/or their relatives. © 2011 John Wiley & Sons A/S.

Morphological re-description and phylogenetic relationship of five myxosporean species of the family Myxobolidae infecting Nile tilapia.

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Abdel-Gaber, Rewaida; Abdel-Ghaffar, Fathy; Maher, Sherein; El-Mallah, Al-Mahy; Al Quraishy, Saleh; Mehlhorn, Heinz

2017-05-11

Freshwater fish have a major economic and nutritional importance worldwide. Myxosporeans are highly dangerous parasites that infect different fish species, causing severe damage to a large number of economically important species, especially in aquaculture. We conducted a survey of myxosporean parasites infecting Nile tilapia Oreochromis niloticus (Perciformes: Cichlidae) collected from different localities along the River Nile passing through Giza province, Egypt. Out of 100 fish specimens collected, 45 were found to be naturally infected with these parasites in the region of the trunk kidney. Light microscopic examination revealed the presence of 5 distinct myxosporean species belonging to 2 different genera, viz. Myxobolus and Triangula, belonging to the family Myxobolidae; all 5 species have been previously described. Morphological characteristics, host specificity and geographical distribution, tissue tropism, and molecular analysis of the partial sequence of small subunit ribosomal DNA gene revealed that the recovered myxosporean species described herein were genetically distinct from other myxozoan species but had 95% sequence similarity to M. cerebralis. Also, phylogenetic analysis placed the present myxosporean species in the freshwater Myxobolus clade, which is a sister group of freshwater Myxobolus/Henneguya species.

Family environment patterns in families with bipolar children.

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

2008-04-01

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

Family interactions in adoptive compared to nonadoptive families.

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

2009-02-01

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

A study about siblings in the face of intellectual disability

Directory of Open Access Journals (Sweden)

Olga Lizasoain

2010-05-01

Full Text Available Research has shown that siblings of a person with intellectual disabilities can present problems of identification and socialization, the need for compensation, early adoption of large responsibilities, feelings of abandonment, guilt, shame or sadness. Nevertheless, if the needs of these brothers and sisters are facing, disability can become a source of personal and family enrichment. This article presents the initial conclusions drawn after a series of personal interviews conducted with siblings of students in a special education school. Awareness of the issue leads us to approach this study with the aim of providing guidelines of intervention to help siblings to minimize the potential negative impact of having a brother or sister with intellectual disabilities, and facilitate the development of attitudes and behaviours that enable them to face stressful situations in a constructive manner. Thanks to the direct experience of those who have been confronted with this situation, is issued to prevent psychosocial problems associated with having a brother or sister with these features.

'Recognized, Valued and Supported'? The Experiences of Adult Siblings of People with Autism Plus Learning Disability.

Science.gov (United States)

Tozer, Rosemary; Atkin, Karl

2015-07-01

The potential of adult siblings to offer long-term support to a brother or sister with autism is rarely realized. To understand this, our study explores the expectations of social care among adult siblings. Using qualitative interviews, we spoke to 21 adult siblings about their family relationships and engagement with service delivery, met with 12 of their siblings with autism and talked to 12 social care staff. Siblings, although reflecting on the difficulties of growing up with someone who had autism, expressed a commitment towards their brother or sister. Most wanted involvement in their care. While some siblings described positive relationships with services, many felt marginalized. Practitioners largely confirmed their perceptions, while offering a justification for why they struggled to engage with adult siblings. By understanding the way relationships between siblings change over time, adult siblings' contribution to the lives of their disabled brother or sister can be better supported. © 2015 John Wiley & Sons Ltd.

The Church: Black Catholic Women Religious in Antebellum Period.

Science.gov (United States)

McNally, Michael J.

1981-01-01

Describes the formation of the Oblate Sisters of Providence and the Congregation of the Holy Family, two orders of Black nuns founded in the American South prior to the Civil War for the purposes of educating Black children and caring for orphans and elderly, abandoned slaves. (GC)

20 CFR 222.41 - Determination of relationship and support for parent.

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2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false Determination of relationship and support for parent. 222.41 Section 222.41 Employees' Benefits RAILROAD RETIREMENT BOARD REGULATIONS UNDER THE RAILROAD RETIREMENT ACT FAMILY RELATIONSHIPS Relationship as Parent, Grandchild, Brother or Sister § 222.41...

20 CFR 222.42 - When employee is contributing to support.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false When employee is contributing to support. 222.42 Section 222.42 Employees' Benefits RAILROAD RETIREMENT BOARD REGULATIONS UNDER THE RAILROAD RETIREMENT ACT FAMILY RELATIONSHIPS Relationship as Parent, Grandchild, Brother or Sister § 222.42 When...

20 CFR 222.43 - How the one-half support determination is made.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false How the one-half support determination is made. 222.43 Section 222.43 Employees' Benefits RAILROAD RETIREMENT BOARD REGULATIONS UNDER THE RAILROAD RETIREMENT ACT FAMILY RELATIONSHIPS Relationship as Parent, Grandchild, Brother or Sister § 222.43...

The Relationship between Dioxin Congeners in the Breast Milk of Vietnamese Women and Sister Chromatid Exchange

Directory of Open Access Journals (Sweden)

Hiroyuki Suzuki

2014-04-01

Full Text Available The aim of this study was to clarify the relationship between dioxin concentrations in breast milk and the sister chromatid exchange (SCE frequency in women from herbicide-sprayed and non sprayed areas. Blood samples were taken from 21 women with high TCDD (tetrachlorodibenzo-p-dioxin levels from sprayed areas, 23 women with moderate TCDD levels from sprayed areas, and 19 women from non sprayed areas to determine their SCE frequency. The SCE frequencies for the high and moderate TCDD groups from the sprayed area and for the non sprayed area group were 2.40, 2.19, and 1.48 per cell, respectively. Multiple regression analysis showed that the standardized β values for 1,2,3,6,7,8-hexaCDD (β = 0.60, 1,2,3,4,6,7,8-heptaCDD (β = 0.64, and octaCDD (β = 0.65 were higher than those for TCDD (β = 0.34 and 1,2,3,7,8-pentaCDD (β = 0.42. The adjusted R2 value for polyCDDs (R2 = 0.38 was higher than that for polyCDD toxic equivalents (TEQ (toxic equivalents; R2 = 0.23. This study therefore shows that levels of hexa-, hepta-, and octaCDD, which were previously regarded as being less toxic than TCDD, are closely related to SCE frequency and that the level of dioxin (pg/g lipid is potentially more useful as an indicator than TEQ value for explaining SCE frequency.