From flagellum assembly to virulence: the extended family of type III export chaperones.
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Paternal involvement in childcare as a function of family structure and maternal employment status was assessed in 92 dual-wage and 103 single-wage Indian families with preschool-aged children residing in different areas of New Delhi, India. Mothers and fathers completed Radian's Paternal Involvement in Child Care Index (PICCI). Data showed that parents in single-wage families spent more time in primary care-giving compared with parents in dual-wage families. Fathers' involvement scores on the different components of the PICCI did not vary as a function of mother's employment status or family structure. Data are discussed with respect to the rigidity of men's role in a historically patriarchal society.
Young homeless African American women and elderly marginally housed African American women have health, housing, and personal concerns specific to their age cohort, yet they also have parallel and complementary needs. The young struggle to find affordable housing, while the old may have difficulty in maintaining their homes. This article reports select findings from a pilot study designed to describe these two groups of women. The preliminary study was conducted preparatory to the development of a larger study to explore factors that would facilitate or hinder linking the two groups of women for mutual assistance in housesharing arrangements. Interviews and housing history findings revealed contrasts and similarities among the women and between both cohorts that reflected individual differences, common yet divergent life courses, and collective responses to family life situations, societal trends, and policies. Advantages and disadvantages of housesharing were delineated with 56.3% of the homeless women and 81.3% of the elderly women viewing coresidential living as an option worth considering. Housesharing arrangements should be further investigated by nurses and colleagues. Findings from this study are foundational for establishing alliances that may be a means to promote health and strengthen "family" in both populations.
Polyclonal isoenzyme-specific antisera were developed against four calcium-independent protein kinase C (PKC) isoenzymes (delta, epsilon, epsilon', and zeta) as well as the calcium-dependent isoforms (alpha, beta I, beta II, and gamma). These antisera showed high specificities, high titers, and high binding affinities (3-370 nM) for the peptide antigens to which they were raised. Each antiserum detected a species of the predicted molecular weight by Western blot that could be blocked with the immunizing peptide. PKC was sequentially purified from rat brain, and the calcium-dependent forms were finally resolved by hydroxyapatite chromatography. Peak I reacted exclusively with antisera to PKC gamma, peak II with PKC beta I and -beta II, and peak III with PKC alpha. These same fractions, however, were devoid of immunoreactivity for the calcium-independent isoenzymes. The PKC isoenzymes demonstrated a distinctive tissue distribution when evaluated by Western blot and immunocytochemistry. PCK delta was present in brain, heart, spleen, lung, liver, ovary, pancreas, and adrenal tissues. PKC epsilon was present in brain, kidney, and pancreas, whereas PKC epsilon' was present predominantly in brain. PKC zeta was present in most tissues, particularly the lung, brain, and liver. Both PKC delta and PKC zeta showed some heterogeneity of size among the different tissues. PKC alpha was present in all organs and tissues examined. PKC beta I and -beta II were present in greatest amount in brain and spleen. Although the brain contained the most PKC gamma immunoreactivity, some immunostaining was also seen in adrenal tissue. These studies provide the first evidence of selective organ and tissue distributions of the calcium-independent PKC isoenzymes.
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The activated protein C (APC) resistance phenotype results from a mutation at one of the cleavage sites of factor V by APC (Q506). We describe a large family with an APC resistance phenotype and without any other detectable coagulation defect, including eight subjects who had developed deep venous thrombosis (mean age of the first thrombosis episode 29 years; range 17-55 years). The factor V Q506 mutation was detected in the seven patients with thrombosis who could be tested and in 13 asymptomatic subjects (mean age 17 years; range 5-33 years). The APC resistance was detectable in only 10 heterozygotes among the 19 tested. These data suggest that, in affected families, the risk for the factor V Q506 mutation carriers to develop thrombosis may be very high and that factor V genotyping must be performed in patients with thrombosis even without any detectable APC resistance phenotype.
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A three-generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal.
BACKGROUND: The interaction between genetic and environmental risk factors in determining premature cardiovascular events has been largely investigated in case-control association studies. By contrast, few family based analyses have been performed so far. PATIENTS/METHODS: From a series of 2936 subjects aged 45-64, we selected probands who died for a premature (<50 years) ischemic heart disease (IHD) and with at least one family member with a history of IHD also occurring under the age of 50. Ninety-four families from 32 pedigrees including 296 subjects were identified. In this population, we analyzed the relationship between background risk factors [age, gender, the G1691A polymorphisms of factor V gene, the C677T polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, the 844ins68bp polymorphisms of the cystathionine-beta-synthase (CBS) gene, and the apolipoprotein E (APOE) polymorphisms] and environmental risk factors, both atherogenic (smoke, hypertension, diabetes, dyslipidemia, obesity) and thrombogenic (smoke, homocysteine, fibrinogen) by a Markov block-recursive modeling approach. RESULTS: None of the studied polymorphisms had an independent direct effect on the risk of IHD. As opposed to atherogenic factors, thrombogenic factors (homocysteine and fibrinogen) turned out to be possible mediators of the indirect effect of the MTHFR gene on IHD risk (OR: 1.30; 95% CI: 1.01-1.69, for every 8 mm increase in plasma levels of homocysteine in TT-carriers compared with CT/CC-carriers (OR: 1.11; 95% CI: 1.01-1.22), for every 20 g L(-1) increase in plasma levels of fibrinogen in TT-carriers compared with CT/CC-carriers). CONCLUSION: Plasma levels of homocysteine and fibrinogen may be interpreted as intermediate factors mediating the effect of predisposing genes on the risk premature cardiovascular disease.
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We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.
An ion channel directly activated by cGMP was first discovered about ten years ago. Since then, a number of ion channels with the same property (cyclic nucleotide-activated channels) have been reported that are involved in a variety of cell functions. In addition, other channels have been found that are not primarily controlled by cyclic nucleotides but are modulated by them (cyclic nucleotide-modulated channels). These channels likewise have diverse functions and tissue distributions. Both channel classes are reviewed here. Coverage includes the cyclic-nucleotide binding site on these channels, ion permeation, pharmacological blockers, channel gating and modulation, and physiological functions of the channels.
OBJECTIVE: In this study we focussed on a single large family to maximize the possibility of recognizing a single locus. This family alone could raise a lod score above 3, i.e. sufficient by tradition for assignment of a locus. METHODS: The family consists of 11 children and 26 grandchildren in whom monosymptomatic primary nocturnal enuresis (PNE) is segregating in three generations. A genome scanning with about 800 polymorphic marker systems was used to localize a chromosome area for the trait and to narrow down the candidate region. RESULTS: Total genome scan and multipoint analysis map PNE to chromosome 22 between the markers D22S446 and D22S343 with a multipoint lod score of 4.51. CONCLUSION: In the candidate area for PNE, the gene GNAZ is mapped. GNAZ has a transducin function in eye and brain and is an obvious candidate gene for PNE.