854 resultados para Father-absent families


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OBJECTIVES Decisions to use condoms are made within partnerships. We examined the associations between inconsistent or no condom use and individual and partnership characteristics. We also examined the relative importance of individual versus partnership factors. METHODS Cross-sectional study of heterosexual individuals enrolled from the sexually transmitted infections (STI) outpatient clinic in Amsterdam, the Netherlands, from May to August 2010. Participants completed a questionnaire about sexual behaviour with the last four partners in the preceding year. Participant and partnership factors associated with inconsistent or no condom use in steady and casual partnerships were identified. RESULTS 2144 individuals were included, reporting 6401 partnerships; 54.7% were female, the median age was 25 (IQR 22-30) years and 79.9% were Dutch. Inconsistent or no condom use occurred in 13.9% of 2387 steady partnerships and in 33.5% of 4014 casual partnerships. There was statistical evidence of associations between inconsistent condom use in steady partnerships and ethnic concordance, longer duration, higher number of sex acts, practising anal sex, and sex-related drug use. In casual partnerships, associations were found with having an older partner, ethnic concordance, longer duration, higher number of sex acts, anal sex, sex-related drug use, ongoing partnerships and concurrency. In multivariable models, partnership factors explained 50.9% of the variance in steady partnerships and 70.1% in casual partnerships compared with 10.5% and 15.4% respectively for individual factors. CONCLUSIONS Among heterosexual STI clinic attendees in Amsterdam, partnership factors are more important factors related with inconsistent condom use than characteristics of the individual.

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This review is focused on the mammalian SLC11 and SLC40 families and their roles in iron homeostasis. The SLC11 family is composed of two members, SLC11A1 and SLC11A2. SLC11A1 is expressed in the lysosomal compartment of macrophages and in the tertiary granules of neutrophils, playing a key role in innate resistance against infection by intracellular microbes. SLC11A2 is a key player in iron metabolism and is ubiquitously expressed, most notably in the proximal duodenum, immature erythroid cells, brain, placenta and kidney. Intestinal iron absorption is mediated by SLC11A2 at the apical membrane of enterocytes, followed by basolateral exit via SLC40A1. To meet the daily requirement for iron, approximately 80% of the iron comes from the breakdown of hemoglobin following macrophage phagocytosis of senescent erythrocytes (iron recycling). Both SLC11A1 and SLC11A2 play an important role in macrophage iron recycling. SLC11A2 also transports iron into the cytosol across the membrane of endocytotic vesicles of the transferrin receptor-cycle. SLC40A1 is the sole member of the SLC40 family and is involved in the only cellular iron efflux mechanism described. SLC40A1 is highly expressed in several tissues and cells that play a critical role in body iron homeostasis. The signaling pathways that regulate SLC11A2 and SLC40A1 expression at transcriptional, post-transcriptional and post-translational levels are discussed. The roles of SLC11A2 and/or SLC40A1 in iron-associated disorders such as hemochromatosis, neurodegenerative diseases, and breast cancer are also summarized.

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Amino acids are necessary for all living cells and organisms. Specialized transporters mediate the transfer of amino acids across plasma membranes. Malfunction of these proteins can affect whole-body homoeostasis giving raise to diverse human diseases. Here, we review the main features of the SLC3 and SLC7 families of amino acid transporters. The SLC7 family is divided into two subfamilies, the cationic amino acid transporters (CATs), and the L-type amino acid transporters (LATs). The latter are the light or catalytic subunits of the heteromeric amino acid transporters (HATs), which are associated by a disulfide bridge with the heavy subunits 4F2hc or rBAT. These two subunits are glycoproteins and form the SLC3 family. Most CAT subfamily members were functionally characterized and shown to function as facilitated diffusers mediating the entry and efflux of cationic amino acids. In certain cells, CATs play an important role in the delivery of L-arginine for the synthesis of nitric oxide. HATs are mostly exchangers with a broad spectrum of substrates and are crucial in renal and intestinal re-absorption and cell redox balance. Furthermore, the role of the HAT 4F2hc/LAT1 in tumor growth and the application of LAT1 inhibitors and PET tracers for reduction of tumor progression and imaging of tumors are discussed. Finally, we describe the link between specific mutations in HATs and the primary inherited aminoacidurias, cystinuria and lysinuric protein intolerance.

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We identified a new point mutation in the CYP19 gene responsible for aromatase (P450arom) deficiency in a 46,XY male infant with unremarkable clinical findings at birth. This boy is homozygote for a 1-bp (C) deletion in exon 5 of the aromatase gene causing a frame-shift mutation. The frame-shift results in a prematurely terminated protein that is inactive due to the absence of the functional regions of the enzyme. Aromatase deficiency was suspected prenatally because of the severe virilization of the mother during the early pregnancy, and the diagnosis was confirmed shortly after birth. Four weeks after birth, the baby boy showed extremely low levels of serum estrogens, but had a normal level of serum free testosterone; in comparison with the high serum concentration of androstenedione at birth, a striking decrease occurred by 4 weeks postnatally. We previously reported elevated basal and stimulated FSH levels in a female infant with aromatase deficiency in the first year of life. In contrast, in the male infant, basal FSH and peak FSH levels after standard GnRH stimulation tests were normal. This finding suggests that the contribution of estrogen to the hypothalamic-pituitary gonadotropin-gonadal feedback mechanism is different in boys and girls during infancy and early childhood. In normal girls, serum estradiol concentrations strongly correlate with circulating inhibin levels, and thus, low inhibin levels may contribute to the striking elevation of FSH in young girls with aromatase deficiency. In contrast, estradiol levels are physiologically about a 7-fold lower in boys than in girls, and serum inhibin levels remain elevated even though levels of FSH, LH, and testosterone are decreased.

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A polyphyletic understanding of Asian linguistic diversity was first propagated in 1823. Since 1901, various scholars have proposed larger linguistic phyla uniting two or more recognised Asian language families. The most recent proposal in this tradition, Starosta’s 2001 East Asian phylum, comprising the Trans-Himalayan, Hmong-Mien, Austroasiatic, Austronesian and Kradai language families, is reassessed in light of linguistic and non-linguistic evidence. Ethnolinguistically informed inferences based on Asian Y chromosomal phylogeography lead to a reconstruction of various episodes of ethnolinguistic prehistory which lie beyond the linguistic event horizon, i.e. at a time depth empirically inaccessible to historical linguistics. The Father Tongue correlation in population genetics, the evidence for refugia during the Last Glacial Maximum and the hypothesis of language families having arisen as the result of demographic bottlenecks in prehistory are shown to be crucial to an understanding of the ethnogenesis of East Asian linguistic phyla. The prehistory of several neighbouring Asian language families is discussed, and the Centripetal Migration model is opposed to the Farming Language Dispersal theory.

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The greater Himalayan region, including the Tibetan plateau in the north and the Gangetic plain in the south, served as the principal prehistoric thoroughfare for the peopling of East and Southeast Asia. The descendants of ancient migrants through this region ultimately settled lands as far away as New Zealand, Madagascar and the Americas. Several of the keys to understanding the ethnogenesis of human diversity in Asia include the Father Tongue correlation, possible refugia during the Last Glacial Maximum and the hypothesis that language families may have arisen as the result of demographic bottlenecks in prehistory. Ethnolinguistically informed inferences based on Asian Y chromosomal phylogeography permit a reconstruction of episodes of ethnolinguistic prehistory which lie beyond the linguistic event horizon, i.e. beyond the time depth empirically accessible to historical linguistics. The origins of the language families which make up the hypothetical Uralo-Siberian and East Asian linguistic phyla are argued to have lain in the northeastern corner of the Indian subcontinent. Several other Asian language families are shown to be tied to the subcontinent. The Centripetal Migration model, which assumes that migrations in quest of a better life unfolded in both centrifugal and centripetal directions with respect to technologically more advanced centres of civilisation, is opposed to the Farming Language Dispersal theory, which assumes that all linguistic dispersals were driven by agricultural centrifugal migration.

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The mechanisms of Ar release from K-feldspar samples in laboratory experiments and during their geological history are assessed here. Modern petrology clearly established that the chemical and isotopic record of minerals is normally dominated by aqueous recrystallization. The laboratory critique is trickier, which explains why so many conflicting approaches have been able to survive long past their expiration date. Current models are evaluated for self-consistency; especially Arrhenian non-linearity leads to paradoxes. The models’ testable geological predictions suggest that temperature-based downslope extrapolations often overestimate observed geological Ar mobility substantially. An updated interpretation is based on the unrelatedness of geological behaviour to laboratory experiments. The isotopic record of K-feldspar in geological samples is not a unique function of temperature, as recrystallisation promoted by aqueous fluids is the predominant mechanism controlling isotope transport. K-feldspar should therefore be viewed as a hygrochronometer. Laboratory degassing proceeds from structural rearrangements and phase transitions such as are observed in situ at high temperature in Na and Pb feldspars. These effects violate the mathematics of an inert Fick’s Law matrix and preclude downslope extrapolation. The similar upward-concave, non-linear shapes of Arrhenius trajectories of many silicates, hydrous and anhydrous, are likely common manifestations of structural rearrangements in silicate structures.

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The publication of the inaugural issue of the Journal of Applied Research on Children is a notable milestone for its sponsoring organization, CHILDREN AT RISK (www.childrenatrisk.org). With the release of “Volume 1, Number 1,” we as the Co-Editors in Chief would like to take the opportunity to thank the inaugural contributors whose articles follow and to answer the obvious question of “Why publish a new journal?”

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Deficiency of coagulation factor XIII (FXIII) belongs to the rare bleeding disorders and its incidence is higher in populations with consanguineous marriages. The aims of this study were to characterize patients and relatives from seven families with suspected FXIII deficiency from Pakistan and to identify the underlying mutations. As a first indicator of FXIII deficiency, a 5M urea clot solubility test was used. Plasma FXIII A- and B-subunit antigen levels were determined by ELISA. FXIII activity was measured with an incorporation assay. Sequencing of all exons and intron/exon boundaries of F13A was performed, and a novel splice site defect was confirmed by RT-PCR analysis. Genetic analysis revealed six different mutations in the F13A gene. Two splice site mutations were detected, a novel c.1460+1G>A mutation in the first nucleotide of intron 11 and a previously reported c.2045G>A mutation in the last nucleotide of exon 14. Neither of them was expressed at protein level. A novel nonsense mutation in exon 4, c.567T>A, p.Cys188X, was identified, leading in homozygous form to severe FXIII deficiency. Two novel missense mutations were found in exons 8 and 9, c.1040C>A, p.Ala346Asp and c.1126T>C, p.Trp375Arg, and a previously reported missense mutation in exon 10, c.1241C>T, p.Ser413Leu. All patients homozygous for these missense mutations presented with severe FXIII deficiency. We have analysed a cohort of 27 individuals and reported four novel mutations leading to congenital FXIII deficiency.

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This study examined the impact of the contextual environment of the family on post abuse adjustment of sexually abused adolescents. Bronfenbrenner’s ecological theory was used to investigate how the external influences of the family impact the capacity of families to foster the recovery of sexually abused adolescents. The results from this secondary analysis of data from the National Survey of Child and Adolescent Well-Being Wave I (NSCAW, Dowd et al., 2002) support contextually sensitive treatment planning for sexually abused adolescents and their families.

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This qualitative study conducted semi-structured, multi-session focus groups and interviews with twenty-seven participants to explore in-depth, participant constructs of child discipline and punishment methods and reasons for the continuing support for corporal punishment of U.S. children. The research assumed that parents want to parent well and utilized the strengths perspective as the instrument to listen to participants' voices. Narratives revealed that participants were thoughtful about discipline and parenting strategies and viewed their parent role as a serious commitment. Non-violent discipline strategies, particularly communication, were often used. However, parents generally framed use of physical punishment as “when children need spanking” versus articulating the view that corporal punishment is a choice. Parents were unfamiliar with risks associated with physical punishment and only three parents, as a result of their foster parent training, had ever heard, “Do not spank.” Participants enumerated services and recommendations that would support and inform their own parenting, as well as, benefit children and the eighty percent of women and men in the United States who become mothers and fathers. Recommendations included: creation of a national campaign to build on parent strengths and the intentionality of effective parenting; child development education and increased public awareness of positive discipline methods; parenting supports, including respite and venues for dialogue and discourse about parenting. Recommendations are intended to inform child welfare practice and policy, particularly child abuse prevention. Creating, funding, and implementing a national campaign as described would challenge the dominant child welfare paradigm from one currently perceived as punitive and focused on parents' deficits to a strengths-based paradigm that provides supports and assistance to parents and children.

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Due to the rising number of children with disabilities, the needs of these families must be addressed. This article describes the development and implementation of a regional forum in a rural community to address education and training needs of families and professionals. The Special Needs Summit provided workshops, information, and activities for parents and professionals. Participants were invited to participate in a study through a survey soliciting feedback regarding the importance and effectiveness of the training and information received through the Summit, gaps in resources, and future educational and training needs. Overall, participants gave satisfactory ratings regarding the training and education provided during the forum, and gave direction for future programming.