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PubMed2006

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

Osteoporosis pseudoglioma syndrome (OPPG) is an autosomal recessive disorder due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Here, we report two novel missense mutations found in a southern Chinese family of a non-consanguineous marriage. Three out of four children had blindness, low bone mineral density (BMD) and multiple fractures in their childhood. Genotyping by DNA sequencing demonstrated 2 new mutations in exon 7 of the LRP5 gene. Tryptophans at amino acid residue positions 478 and 504 were replaced by arginine (W478R) and cysteine (W504C), respectively. While the parents that possessed either heterozygous W478R or W504C were apparently normal, all affected subjects were compound heterozygotes for the W478R and W504C mutations in the LRP5 gene. W478R is located immediately C-terminal to the third YWTD repeat of the second YWTD/EGF domain in LRP5, while W504C is located between the third and the fourth YWTD repeats of the second YWTD/EGF domain in LRP5. Using LRP5-related proteins, such as the low-density lipoprotein receptor (LDLR) and nidogen as reference models, a homology model of LRP5 suggested that the observed mutations may affect the molecular interactions of LRP5 and so lead to the observed OPPG phenotypes.

Adolescent↗
PubMed1980

Alternatives to couples counseling for sex problems: group and individual therapy.

Masters and Johnson's model of two therapists doing therapy with a client couple has become the standard arrangement in sex therapy. Claims for the superior effectiveness of this format are questioned, and some limitations are noted. Two alternative methods--group and individual treatment--are discussed, especially situations in which they are applicable, and the strengths and limitations of each. Two case studies of individual therapy are presented to illustrate some of the issues and possibilities in this type of treatment.

Adult↗
PubMed1990

Alcohol or tobacco research versus alcohol and tobacco research.

Despite the frequent co-occurrence of tobacco and alcohol use, little is known about relationships between alcohol and nicotine. This paper reviews similarities and differences between tobacco and alcohol use, offers speculation about why a marriage of the two fields has been so long in coming, and discusses the multiple scientific and therapeutic benefits that could derive from the study of individuals who use both drugs.

Alcoholism↗
PubMed2006

[Relationship between depression symptoms and stress in occupational populations].

OBJECTIVE: To explore the relationship between the depression symptoms and occupational stress in occupational populations. METHODS: Depression symptoms were measured by using the center for epidemiological survey-depression scale. The occupational stress instrument were employed to investigate the stressors, personalities, social support, and coping strategies as well as the subject's age, length of service, sex, educational level and marriage status. Chi(2) test was used for analyzing the difference of depression. The multiple covariance analysis was used for testing the difference of stressors, personalities, social support, and coping strategies among the groups with different scores of depression. The variables obtained in the optional prediction equation were identified by multiple stepwise regression analysis. RESULTS: The incidence rate of definite depression symptoms was 40.2%. The total average score was 21.74 +/- 8.99. Henan province had the highest incidence rate of depression symptoms, 43.8%, Hebei 39.4%, and Beijing the lowest, 23.4%. The male workers had the higher incidence rate of depression symptoms, 43. 0% than female, 35.4% (P < 0.01). The older group had the lower incidence rates of depression symptoms, compared with the younger group (P < 0.01). The workers divorced or with the bereft spouse had the higher incidence rate of depression symptoms than the workers married and unmarried (P < 0.05). The workers with middle school education had the higher incidence rates of depression symptoms than those with master degree. Incidence rates in the most occupational groups were more than 30%. The significant difference was shown between the different jobs (P < 0.01). The difference of the adjusted means among three groups of different depression score were analyzed. The results showed the workers with definite depression symptoms had the higher scores than the other two groups in physical factors, role ambiguity, role conflict, job monotony, mental load, responsibility for persons, job future ambiguity, job hazards, type A behavior and work locus of control, and social support (P < 0.05, P < 0.01). The former had the lower scores than the other two groups in the scores of promotion, participation, autonomy, task identity, feedback, friendship opportunity, speed control, training adequacy, challenge, self-esteem, organizational commitment, and coping strategies. Fifteen variables entered the predictive equation of depression score explaining 33.1% of variance. CONCLUSION: There are serious mental health problems in the occupational population in our country. Stressors and personalities affect the mental health.

Adolescent↗
PubMed1991

Social integration and black intraracial variation in blood pressure.

An evaluation is made of the inverse role social integration plays in explaining variation in blood pressure among a sample of 1420 black Americans. This sample is part of a larger representative sample of 6717 adults (18 years and older) who were interviewed in the 1981-82 Maryland Statewide Hypertension Control Program. Social integration is operationalized in terms of five submeasures: employment, marriage, church affiliation, group affiliation, and having someone to talk to when needed. Separate multiple regression analyses were conducted for males (n = 587) and females (n = 833), and selected covariates (eg, age, education, body mass index, physical exercise, current use of antihypertension medication, cigarette smoking) were entered to assess more adequately the hypothesized inverse relationship between social integration and systolic and diastolic blood pressure. Only church affiliation appears inversely associated with systolic (males: b = -4.898; 95% CI = -10.385 to 0.589; females: b = -4.005; 95% CI = -8.341 to 0.331) and diastolic (males: b = -6.511; 95% CI = -10.038 to -2.985; females: b = -5.318; 95% CI = -8.329 to -2.307) blood pressure. These results indicate that several pathways can influence how social integration, especially affiliation with a church, contributes to lower levels of blood pressure. The possibility that biological as well as psychosocial pathways operate is discussed. Given the dominant and independent inverse association of church affiliation to blood pressure, health education is discussed as a public health strategy to disseminate information regarding the possible health importance of social integration for black Americans. The adherence to sound preventive health practices (eg, exercising, lower weight-to-height body ratio) should also be part of the health education strategy to reduce elevated blood pressure in black Americans.

Adolescent↗
PubMed1979

Breast cancer mortality and diet in the United States.

Internationally, breast cancer mortality is correlated with intestinal lactase sufficiency and dairy product consumption beyond childhood. Within the United States, age-adjusted breast cancer mortality is positively associated with consumption of milk, butter, and total milk fat in regional analyses, and it is associated with milk demand in state-based analyses. Breast cancer mortality is also positively associated with demand for total calories, protein, fat, beef, and table fats (butter and margarine), and it is negatively associated with egg demand. Only the associations with milk and egg demand, however, survive when the Southern states are eliminated from the analyses or when either age of first marriage or income is controlled. The associations with milk and egg demand persist despite multiple controls for other dietary and demographic variables, although the association with milk demand loses statistical significance in some second- and third-order partial correlations. The inverse correlation with egg demand is strong but in the opposite direction from what might have been expected from previous studies. The correlation between milk demand and breast cancer mortality, although weaker, is consistent with results from previous studies, and it suggests a possible special role for dairy products in the etiology of breast cancer.

Adult↗
PubMed2001

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family.

The authors describe a family of Sephardic Jews with progressive external ophthalmoparesis, skeletal muscle weakness, and parkinsonism. Autosomal recessive inheritance was suggested by many consanguineous marriages, although a dominant disorder could not be excluded. No linkage to known progressive external ophthalmoparesis locus was found. The presence of cytochrome c oxidase-negative ragged-red fibers, biochemically reduced respiratory chain complexes, and multiple mitochondrial DNA deletions in muscle biopsies from four patients suggested a new mitochondrial disorder of intergenomic communication.

Adult↗
PubMed1996

Risk factors for HIV infection at enrollment in an urban male factory cohort in Harare, Zimbabwe.

Between March 1993 and March 1995, volunteers at 40 Harare factories were interviewed regarding sociodemographic characteristics and behavior; HIV serostatus was also determined. Among 2,691 men enrolled, HIV prevalence was 19.4%. Prevalence rose 2-fold with each year of age in young men (< 23 years). In a multivariate logistic model that included sociodemographic and behavioral variables, compared with those between 25 and 44 years, both younger men (OR = 0.51) and older men (OR = 0.49) were less likely to be HIV positive. In addition, marriage (OR = 2.01), history of sexually transmitted disease (STD) (genital ulcer, OR = 4.93, urethral discharge OR = 1.75), multiple partners (OR = 1.58), cash payment for sex (OR = 2.55) and condom use (OR = 1.35) were all independent risk factors for HIV infection. Home ownership conferred lower risk. Self-reported condom use was seen as a marker of correct personal risk assessment men who used condoms reported more risk behavior and had a higher prevalence of HIV, either because condom use was not consistent or because infection occurred prior to adoption of condoms. This study confirms established risk factors in a general population sample not selected for high risk of HIV infection. It suggests rapid acquisition of infection among young men and the importance of marriage (and separation of spouses) as correlates of HIV infection.

Adolescent↗
PubMed1992

Future caregivers: projected family structures of older persons.

Elderly persons depend upon spouses and children for emotional, physical, and financial support. In particular, the use of institutional long-term care has been shown to vary by family status. Changes in past and future levels of mortality, fertility, marriage, and divorce will influence the probability that elderly persons of the future have surviving spouses and children. This research uses multiple decrement life tables and component projection methods to project the future family status of elderly persons until the year 2020. The high level of fertility among women during the 1950s will result in greater proportions of future elderly persons having surviving children. Declines in mortality, coupled with increases in rates of marriage, increase the probability that both men and women will have spouses surviving in their old age.

Black or African American↗
PubMed1992

Genetic linkage analysis in hypertension: principles and practice.

BACKGROUND: Primary hypertension is a hereditary disorder characterized by a complex etiological interplay of multiple genetic and environmental factors, until now defying attempts at identifying pathogenetically important genes. The marriage of classical genetics and molecular techniques is now offering a powerful set of tools to uncover such disease-relevant genes. SUMMARY: Based upon the availability of methods to directly examine chromosomal and genomic DNA structures, molecular genetics has at its disposal today an array of markers far more numerous and specific than the phenotype parameters used in classical genetics. In addition, use of DNA polymorphisms takes the process of genetic analysis immediately to that level of investigation--the genome--from which relevant data will ultimately come forth. The deployment of these tools in the pursuit of elucidating the pathogenesis of hereditary hypertension, and their use for two commonly applied strategies, candidate gene analysis and reverse genetics, are discussed. SIGNIFICANCE: Whilst still in its early stages, the application of molecular genetic methods to the study of hereditary hypertension now holds the realistic promise of identifying disease-relevant genes. This will provide the basis for advanced diagnostic, preventive and therapeutic approaches.

Animals↗
PubMed1999

Antiepileptic drug therapy and sexual function in men with epilepsy.

PURPOSE: To study the effects of antiepileptic drugs (AEDs) on sex hormone levels and sexual activity in a group of men attending a hospital-based epilepsy clinic. METHODS: One hundred eighteen men being treated with AED therapy, 32 with epilepsy but not receiving AEDs, and 34 controls were recruited. All subjects were aged 18-65 years. Blood (20 ml) was removed for hormone assays, after which each subject completed a validated questionnaire [Sexuality Experience Scores (Frenken and Vennix, 1981)] aimed at exploring the individuals' sexual activity and attitudes to sexual morality. RESULTS: Men taking carbamazepine (CBZ) only had significantly higher mean sex hormone-binding globulin (SHBG) levels than the control group. The CBZ group also had a significantly lower mean DHEAS concentration than the control, untreated, and sodium valproate (VPA) monotherapy groups. The phenytoin monotherapy group (PHT) had a significantly higher mean SHBG than both the control and untreated groups, and had a significantly higher mean total testosterone (TT) value than the control untreated, CBZ, and VPA groups, and a significantly lower mean DHEAS than the controls, untreated, and VPA groups. Men receiving more than one AED had significantly higher mean SHBG concentrations compared with control, untreated, and VPA groups. In addition, the polytherapy group's mean TT was significantly higher than the control and VPA groups, although its mean DHEAS concentration was lower than the control, untreated, and VPA groups. There were no significant differences between the study groups in mean FT, Budrostenedione (AND), or estradiol levels. But the CBZ, PHT, and polytherapy groups had significantly lower mean free and rogen index (FAI) than the controls. The CBZ group had a lower mean FAI than the VPA group. The polytherapy group had a lower FAI than the untreated group. Sexuality Experience Scores (SES) showed that those men receiving AEDs embraced a stricter sexual morality than the controls and untreated, and expressed greater satisfaction with their marriages than the control and untreated groups. CONCLUSIONS: Seizure type did not affect SES scores. Multiple regression showed men who had received further education were less accepting of strict sexual morality.

Adolescent↗
PubMed2006

Changing compatibility of cohabitation and childbearing between young British women born in 1958 and 1970.

We investigate the effect of parenthood on whether non-marital unions led to marriage or parting for two cohorts of British women when they were aged between 16 and 29. We compare the effect of conceptions leading to births and the presence and characteristics of children on the odds that a cohabitation was dissolved, or that it was converted to marriage, for women born in 1958 and 1970. A multilevel, multiprocess, competing-risks model allows for multiple cohabitation per woman and endogeneity of fertility status. We find that cohabiting couples' response to impending parenthood and the presence of children changed over time. In particular, the proportion of cohabiting couples who married before a birth decreased and, in the 1970 cohort only, the risk of dissolution declined during pregnancy. There is also evidence that the presence of a child cemented a cohabiting union for women from the 1970, but not the earlier, cohort.

Adult↗
PubMed1985

Marital and parent-child relationships in family of origin and marital change following the birth of a baby: a retrospective analysis.

In order to explore the relationship between recollected experiences in one's family of origin and changes in marriage following the birth and rearing of a new baby, data collected as part of a larger and more extensive study of infant and family development were analyzed. Multiple regression analyses revealed that retrospective reports of how one was reared by parents and of how parents got along as husband and wife in one's family of origin reliably predicted changes in marriage from the last trimester of pregnancy through the time the baby was 9 months of age. Most significantly, results indicated that husband-wife differences in evaluations of marital adjustment increased over time when individuals recalled being reared in a cold-rejecting as opposed to warm-supportive manner, especially when individuals also recalled their own parents as not having an especially harmonious marital relationship. These findings are discussed in terms of potential processes by which experiences in one's family of origin may affect the way couples adjust to the birth and rearing of a new baby.

Adult↗