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PubMed1982

Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

Three cases of lethal short-rib polydactyly syndrome of the Majewski type are presented. All three cases were the products of first-cousin marriages. Two of the cases were siblings; three more of their siblings also showed signs of this abnormality but their cases were incompletely documented. The three reported cases are compared with five fully documented cases that have been presented by other authors.

Abnormalities, Multiple↗
PubMedDate not supplied

A syndrome of alacrima, achalasia, and neurologic anomalies without adrenocortical insufficiency.

We describe a single case of a 2-year, 8-month-old male child with alacrima, achalasia, and neurologic anomalies and proven clinical and laboratory evidence of normal adrenocortical function. As the child was the product of a first cousin marriage, the possibility of autosomal recessive mode of inheritance was considered. Differentiation between this syndrome and other previously described associated syndromes is illustrated. This article emphasizes the presence of multisystem anomalies as described in the presence of normal suprarenal function.

Abnormalities, Multiple↗
PubMed2006

Defining and measuring optical frequencies: the optical clock opportunity--and more (Nobel lecture).

Four long-running currents in laser technology met and merged in 1999-2000. Two of these were the quest toward a stable repetitive sequence of ever-shorter optical pulses and, on the other hand, the quest for the most time-stable, unvarying optical frequency possible. The marriage of ultrafast- and ultrastable lasers was brokered mainly by two international teams and became exciting when a special "designer" microstructure optical fiber was shown to be nonlinear enough to produce "white light" from the femtosecond laser pulses, such that the output spectrum embraced a full optical octave. Then, for the first time, one could realize an optical frequency interval equal to the comb's lowest frequency, and count out this interval as a multiple of the repetition rate of the femtosecond pulse laser. This "gear-box" connection between the radiofrequency standard and any/all optical frequency standards came just as sensitivity-enhancing ideas were maturing. The four-way union empowered an explosion of accurate frequency measurement results in the standards field and prepared the way for refined tests of some of our cherished physical principles, such as the time-stability of some of the basic numbers in physics (e.g. the "fine-structure" constant, the speed of light, certain atomic mass ratios), and the equivalence of time-keeping by clocks based on different physics. The stable laser technology also allows time-synchronization between two independent femtosecond lasers so exact they can be made to appear as if the source were a single laser. By improving pump-probe experiments, one important application will be in bond-specific spatial scanning of biological samples. This next decade in optical physics should be a blast!

Journal Article↗
PubMed2005

Attitudes toward the discontinuation of female genital cutting among men and women in Guinea.

OBJECTIVE: To investigate socioeconomic correlates of and gender differences in attitudinal support for the discontinuation of FGC in Guinea. METHOD: Data from structured interviews of men aged 15-59 and women aged 15-49 years in the 1999 Demographic and Health Survey and multiple logistic regression methods were used to examine the relationship of socioeconomic factors and gender to attitudinal support for the discontinuation of FGC. RESULT: More than 9 out of 10 women had undergone FGC. Attitudinal support for FGC discontinuation was more prevalent among men than women. The odds of supporting the discontinuation of FGC were negatively related to beliefs in social approval of and religious support for FGC and its enhancement of women's marriageability, the number of perceived advantages of FGC, and women's low socioeconomic status. CONCLUSION: Community education, improvements in women's socioeconomic status and traditional and religious leader involvement would be critical for FGC eradication.

Adolescent↗
PubMed2006

De novo isochromosome 18p in a female dysmorphic child.

Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX+i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.

Abnormalities, Multiple↗
PubMed2006

Marital discord and well-being in older adults: is the association confounded by personality?

The associations between marital discord and multiple measures of well-being (depression, anxiety, life satisfaction, and self-esteem) were evaluated in a population-based sample of 416 couples in which the husband was 65 years or older. Results indicated that greater marital discord was associated with greater depression and lower life satisfaction and self-esteem. Furthermore, the associations between marital discord and well-being remained significant when statistically controlling for the rival explanation of the Big Five personality traits. Finally, there was little evidence for gender differences in the magnitude of the associations between marital discord and well-being. Findings suggest that marital discord is an important correlate of multiple measures of well-being in older individuals and that this association is not confounded by the Big Five personality traits.

Adaptation, Psychological↗
PubMed1992

Risk factors in limb reduction defects.

Risk factors were studied in 123 children with limb reduction defects (LRD) from 118,265 consecutive births of known outcome during the period from 1979 to 1987 in the area which is covered by our registry of congenital malformations. For each case a control was studied. The LRD was localised and classified according to the EUROCAT guide for the description and classification of limb defects. The prevalence of LRD was 1.04 per thousand: 82.9% of the babies were liveborn, 13.0% were late spontaneous abortion or stillborn and termination was performed in 4.0% of the cases. The proportion of males was 0.55. The most common malformations in the 51.2% of children who had at least one other anomaly than LRD were associated cardiac, digestive and renal anomalies. The pregnancy with limb anomalies was more often complicated by oligohydramnios, polyhydramnios and threatened abortion but there were no differences in parental characteristics. However, 9.7% of marriages were consanguineous (P less than 0.01) and the incidence of LRD in first-degree relatives of the children with LRD was high. First-degree relatives also had more non-limb malformations than did those of controls.

Abnormalities, Multiple↗
PubMed2001

Therapist perceptions of ethnicity issues in family therapy: a qualitative inquiry.

A group of 29 leading family therapists presenting at a regional marriage and family therapy conference were interviewed about ethnicity issues in family therapy. Questions and discussion focused on ethnicity in the family therapy process, ethnicity issues for the family therapist, ethnicity issues for the client family, therapeutic strategies when ethnicity is an issue, and recommendations for ethnicity training and supervision of future family therapists. Qualitative methods were used to analyze the transcripts of the recorded interviews to identify themes emerging from the interviews. Results reflect multiple perspectives and approaches in the field of family therapy.

Attitude of Health Personnel↗
PubMed1987

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

An efficient strategy for mapping human genes that cause recessive traits has been devised that uses mapped restriction fragment length polymorphisms (RFLPs) and the DNA of affected children from consanguineous marriages. The method involves detection of the disease locus by virtue of the fact that the adjacent region will preferentially be homozygous by descent in such inbred children. A single affected child of a first-cousin marriage is shown to contain the same total information about linkage as a nuclear family with three affected children. Calculations show that it should be practical to map a recessive disease gene by studying DNA from fewer than a dozen unrelated, affected inbred children, given a complete RFLP linkage map. The method should make it possible to map many recessive diseases for which it is impractical or impossible to collect adequate numbers of families with multiple affected offspring.

Chromosome Mapping↗
PubMed2000

Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. A case report.

BACKGROUND: Hypophosphatasia is a rare autosomal recessive metabolic disorder characterized by low serum and tissue alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and ricketslike changes in the bone. CASE: We present a case of prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. The case was diagnosed at 24.5 weeks of gestation. Sonographic evaluation revealed a fetus with short and deformed bones and a hypoechogenic skull. Based on the sonographic findings and the obstetric history of the couple, hypophosphatasia was diagnosed. The parents opted for pregnancy termination. Feticide was accomplished uneventfully. Laboratory findings confirmed the diagnosis. CONCLUSION: This couple was prone to this metabolic disorder due to their consanguineous marriage and previous affected fetus. Early-first-trimester prenatal diagnosis by first-trimester chorionic villus sampling or second-trimester measuring of alkaline phosphatase activity in the amniotic fluid is required to exclude this lethal disease in subsequent pregnancies.

Abnormalities, Multiple↗
PubMed1995

Birth statistics 1993.

The key birth statistics for 1993, in Table E of the Annual Review on page 7 of this volume, show that: The total number of live births fell for the third consecutive year and was 673 thousand in 1993, 2 per cent fewer than in 1992, and the lowest annual total since 1986. The number of women in reproductive ages changed only marginally, so that the crude birth rate (CBR), the general fertility rate (GFR) and total period fertility rate (TPFR) each decreased. The TPFR was 1.76 in 1993, 2 per cent lower than in 1992. The mean age of women at childbirth continued to rise, and reached 28.1 years. The proportion of births outside marriage increased by a further 1 per cent between 1992 and 1993, to reach 32.2 per cent. There were 105.6 male births for every 100 female births--a higher ratio than in 1992.

Adult↗
PubMed1988

Human immunodeficiency virus infection in sexually active wives of infected hemophilic men.

PURPOSE: Because of past multiple exposures to contaminated coagulation factor concentrates, the prevalence of human immunodeficiency virus (HIV) infection among adult hemophilic men in the United States is reported to range from 75 to 90 percent. The risk of HIV transmission through a long-term monogamous heterosexual contact can be estimated by studying the spouses of hemophilic subjects since these couples generally do not abuse intravenous drugs, usually maintain stable monogamous relationships, and are usually free of other risk factors. Our purpose was to gather data on the risk of heterosexual transmission of HIV infection in the context of long-term monogamous relations according to the duration of HIV antibody seropositivity and of HIV antigenemia in HIV-infected hemophilic men, and their sexual habits. SUBJECTS AND METHODS: Infection with HIV was studied in 14 sexually active spouses of infected hemophilic men who had been HIV antibody reactive for a mean of 46 +/- 23 (SD) months. One half of the hemophilic men studied had overt HIV antigenemia for a mean duration of 27 +/- 23 (SD) months; six of the men studied fulfilled clinical criteria for the diagnosis of acquired immunodeficiency syndrome (AIDS). All 14 couples were sexually active in a strictly monogamous fashion, in marriages of 13.5 +/- 10.5 (SD) years with an average reported frequency of four sexual encounters per month (range: one to 12). Plasma samples of the hemophilic husbands were retrospectively analyzed for HIV and hepatitis B virus markers. Blood samples were obtained from female spouses on at least two occasions, six months apart. Comprehensive questionnaires regarding sexual habits and other risk factors were filled out by each couple; during this interview, the couple was counseled about safe sexual practices. None of the couples studied used condoms prior to January 1986. RESULTS: Antibodies to HIV developed in only one of the 14 wives. At the time when this seroconversion was detected, her husband, in whom AIDS developed, had been reactive for HIV antibody for 49 months, and showed positive findings for HIV antigen for 26 months. No additional risk factors were identified for this couple. The infected female spouse, however, has a 14-year history of multiple sclerosis, and had been treated with immunosuppressant intermittently. Despite a significantly reduced number of CD4 lymphocytes, she has remained clinically asymptomatic for 17 months since seroconversion. HIV antibodies did not develop in any of the 13 remaining wives, despite the frequent practice of oral sex by six couples and reports of occasional anal intercourse by another couple.(ABSTRACT TRUNCATED AT 400 WORDS)

Acquired Immunodeficiency Syndrome↗
PubMed1976

Historical and theoretical perspectives: sex, love, and commitment revisited.

A sociology-of-knowledge perspective is used to examine the interplay among sex, love, and commitment within the context of historical trends and social changes. The implications of qualitative and quantitative differences among love, sex and commitment are discussed in relation to (1) the concept of "multiple selves," (2) "individual variations in threshold levels," and (3) the misuse of "ideal types." Clinical and research efforts to differentiate among sex, love, and commitment need to be balanced by explicit awareness of the tendency to compartmentalize these three areas.

Adult↗
PubMed1998

Children's attributions about family arguments: implications for family therapy.

Children's attributions about the causes of family arguments affect both their interpretations of the meaning of and their adjustment to such events. Children's attributions about family arguments are, therefore, of importance in family therapy, especially for therapists who work from a cognitive or constructivist perspective. In an exploratory study, we examined children's attributions about family arguments in two arenas: marital arguments and parent-child arguments. Ninety-two children, aged 5-12, listened to an audiotaped argument and answered a series of structured questions concerning different attributions about the causes of such arguments. Descriptive analyses of the most and least endorsed attributions provided an overall map of the "stories" children tell about the causes of family arguments, and showed that, in general, they are more likely to endorse multiple, interacting causes than internal, blaming attributions. Additionally, children of all ages made somewhat different attributions concerning mothers vs. fathers in marital arguments. Implications for family therapy and suggestions for future clinical research are discussed.

Causality↗
PubMed2005

Overcoming bias toward same-sex couples: a case study from inside an MFT ethics classroom.

This article illustrates a teaching case in which a marriage and family therapy (MFT) trainee learned to develop cultural sensitivity toward same-sex couples despite religious beliefs that put her at risk of discriminating against that population. The case took place during a marriage and family therapy ethics course in the spring of 2003. From two first-person perspectives, the authors illustrate the processes that facilitated the student's change, addressing the class activities, discussions, and pivotal moments of teaching and learning that promoted the student's cultural competency and helped her to resolve this personal and ethical dilemma. A set of classroom techniques (creating a safe environment, using a stance of curiosity, finding alternative learning formats, extrapolating ideas from multiple sources, and capitalizing on students' experiences outside of class) used in the case are detailed throughout the article.

Couples Therapy↗
PubMed2003

Community characteristics associated with child abuse in Iowa.

PROBLEM: Various demographic and community characteristics are associated with child abuse rates in national and urban samples, but similar analyses have not been done within rural areas. This study analyzes the relationships between reported and substantiated rates of child abuse and county demographic, health care resource and social services factors in a predominantly rural state in the US. METHODS: County-level data from Iowa between 1984-1993 were analyzed for associations between county characteristics and rates of child abuse using univariate correlations and multivariate stagewise regression analysis. Population-adjusted rates of reported and substantiated child abuse were correlated with rates of children in poverty, single-parent families, marriage and divorce, unemployment, high-school dropouts, median family income, elder abuse, birth and death rates, numbers of physicians and other healthcare providers, hospital, social workers, and number of caseworkers in the Department of Human Services. RESULTS: Rates of single-parent families, divorce and elder abuse were significantly associated with reported and substantiated child abuse in multivariate analysis, while economic and most health care factors were not. Reporting and substantiation rates differed across districts after adjustment for multiple factors including caseworker workload. CONCLUSIONS: In this rural state, family structure is more significantly associated with child abuse report and substantiation rates than are socioeconomic factors. The level of health care resources in a county does not appear to affect these rates.

Adolescent↗
PubMed2006

HIV-related sexual behaviour among migrants and non-migrants in a rural area of China: role of rural-to-urban migration.

OBJECTIVE: To compare human immunodeficiency virus (HIV)-related sexual risks between temporary rural-to-urban migrants and non-migrants, and to explore the role of migration in HIV transmission in a rural area of China. STUDY DESIGN: A cross-sectional study was conducted among 605 (302.5 couples, one male missing) marriage licence applicants. METHODS: A two-part anonymous questionnaire was used. The first part included non-sensitive questions including demographics and HIV knowledge. Sensitive questions related to sexual behaviours were administered in the second part of the questionnaire using a tape recorder, earphones and an answer sheet. RESULTS: Sixty-six percent (399/605) of the study subjects had migrated to a city for a temporary job. The proportions of migrants who had premarital sex (62%, 247/399) and multiple sexual partners (12%, 47/399) were significantly higher than those of non-migrants (52 and 6%, respectively). Among those who had multiple sexual partners, only 9% (4/47) of migrants and 8% (1/12) of non-migrants reported often or always using condoms with sexual partners other than their spouse. A low level of knowledge regarding HIV and acquired immunodeficiency syndrome was observed in both groups. Very few migrants (15%, 61/399) and non-migrants (10%, 20/206) perceived themselves to be at risk of HIV infection. CONCLUSIONS: As both migrants and non-migrants are at risk of HIV infection, intervention programmes targeting reduction of HIV sexual risk behaviour should cover both groups in rural areas of China.

Adult↗
PubMed2003

Sources of distress among women in treatment with their alcoholic partners.

We examined sources of psychological and relationship distress among 90 nonalcoholic women with alcoholic male partners seeking outpatient, conjoint alcohol treatment. Results indicated that greater psychological distress among these women was most strongly associated with lower satisfaction with the marital relationship, presence of domestic violence, lower frequency of male partner's drinking, lower perceived social support from family, and more frequent attempts to cope with the partner's drinking. Controlling for psychological distress, greater marital satisfaction was associated most strongly with greater attempts to reinforce positively the partner's abstinence and with less effort to detach from the partner's drinking. Severity of partner's alcohol problems was unexpectedly associated with greater marital satisfaction in multiple regression analyses, though not in bivariate analyses. Results highlight the close connection between psychological and relationship distress and potential relations between alcohol-related coping behaviors and both psychological and relationship distress.

Adaptation, Psychological↗