Communication about carrier testing within hemophilia A families

Genetic diseases are family diseases. Although there is considerable research on how individuals decide to have genetic testing and their individual reactions to testing, there is limited research on the familial context of genetic testing. In the present study, we focus on three aspects of the family context of genetic testing for hemophilia A carrier status among women at risk to be carriers. We look at the extent to which there was discussion of carrier testing for hemophilia before we offered DNA-based carrier testing to these at-risk women; with which family members these tested women communicated the results of their carrier testing; and concerns these women had about communicating their carrier test results with relatives, including their children. Data suggest that members of families with hemophilia discussed carrier testing prior to study participation, that the communication of testing information within families was selective, not universal, largely following gender lines for this X-linked disorder, and that there was limited concern about communicating carrier status information to children and other relatives. These data reinforce observations that families are social systems, and within these systems information is selectively communicated. A more complete understanding of how families communicate genetic test information will enable providers to develop more effective means of assisting individuals in handling the familial communication aspects of genetic testing.     

Parental management of asthma triggers within a child's environment

BACKGROUND: Control of environmental precipitants of asthma is an important component of self-management. OBJECTIVE: To assess the type and frequency of attempts by families to control environmental precipitants of symptoms and their degree of consistency with current guidelines. METHODS: We analyzed data from a nationwide sample of 896 children (2-12 years) with asthma. We collected data on insurance, race, sex, income, asthma education exposure, and severity. Parents were asked open-ended questions about their child's asthma triggers and what, if any, actions they took to control these triggers. RESULTS: We completed interviews with the parents of 896 of 1077 (83%) eligible patients. Patients had a mean age of 7.2 years, 65% were boys, 13% had Medicaid insurance, 12% were African American, and 31% had persistent asthma. Eighty percent (717/896) of parents could identify at least 1 asthma trigger (mean, 2.2; range, 0-9). Eighty-two percent (582/717) of these parents had attempted an environmental control measure. Of 1788 actions initiated, 916 (51%) were unlikely to be beneficial on the basis of current guidelines. No specific demographic characteristic predicted which parents were more or less likely to institute environmental controls. CONCLUSION: In our sample, more than half (51%) of the environmental actions initiated were not specifically endorsed by current guidelines. Improving awareness about recognized methods to address triggers may help families use more effective measures. Clinicians should not assume that they can predict which families will be more or less likely to attempt environmental control, but should provide education regarding effective environmental measures for all families with potentially modifiable asthma triggers     

Interrelating within the families of young psychotherapy outpatients

Interrelating is a combination of relating to and being related to by another. The Couple's Relating to Each Other Questionnaires (CREOQ) and the Family Members Interrelating Questionnaires (FMIQ) measure negative forms of both self and other relating, across a close/distant and an upper/lower axis. These were used to measure the interrelating between the parents of young adults, and between young adults and their parents, in a sample of young, Greek, psychotherapy outpatients and a comparable sample of non‐ patients. In a proportion of both samples, the interrelating of the young adults was compared with that of a well sibling. The patients' parents were significantly more distant towards each other than those of the non‐patients. The interrelating between the patients and their parents was markedly worse than that between the non‐patients and their parents. It was also markedly worse between the patients and their parents than between the siblings and their parents. Copyright © 2009 John Wiley & Sons, Ltd.     

Pediatric asthma management in the family context: the family asthma management system scale

OBJECTIVE: To examine psychometric properties of a revised version of the Family Asthma Management System Scale (FAMSS), a clinical interview to assess asthma management. METHODS: The FAMSS was administered to 115 children with asthma and their primary caregivers, along with a measure of asthma morbidity. A subset of families (n = 53) participated also in objective-adherence monitoring and completed measures of asthma knowledge and self-efficacy. RESULTS: The FAMSS demonstrated good internal consistency (alpha = .84). The FAMSS summary score was unrelated to age, gender, race, or minority status, but was related to socioeconomic status (SES) and to functional morbidity at baseline and prospectively. Convergent validity of the FAMSS was documented. The FAMSS explained additional variance in concurrent-asthma morbidity beyond self-reports or objective adherence monitoring. CONCLUSION: The FAMSS is a valuable tool to assess family-based asthma management that addresses gaps in available assessment methodologies and holds promise for research and clinical applications.     

Concordance of Helicobacter pylori strains within families

Helicobacter pylori infection is typically acquired in early childhood, and a predominantly intrafamilial transmission has been postulated. To what extent family members share the same strains is poorly documented. Our aim was to explore patterns of shared strains within families by using molecular typing. Family members of H. pylori-infected 10- to 12-year-old index children identified in a school survey were invited to undergo gastroscopy. Bacterial isolates were typed with random amplified polymorphic DNA and PCR-restriction fragment length polymorphism of the genes ureA-B, glmM, or flaA. The presence or absence of the cag pathogenicity island, a bacterial virulence factor, was determined by PCR. GelCompar II software, supplemented with visual inspection, was used in the cluster analysis. In 39 families, 104 individuals contributed 208 bacterial isolates from the antrum and corpus. A large proportion, 29 of 36 (81%) of the offspring in a sibship, harbored the same strain as at least one sibling. Mother-offspring strain concordance was detected in 10 of 18 (56%) of the families. Of 17 investigated father-offspring relations in eight families, none were strain concordant. Spouses were infected with the same strains in 5 of 23 (22%) of the couples. Different strains in the antrum and corpus were found in 8 of 104 (8%) of the subjects. Our family-based fingerprinting study demonstrates a high proportion of shared strains among siblings. Transmission between spouses seems to be appreciable. The data support mother-child and sib-sib transmission as the primary transmission pathways of H. pylori.     

Home-based asthma education of young low-income children and their families

OBJECTIVE: To conduct a controlled trial of a home-based education program for low-income caregivers of young children with asthma. METHODS: Participants were randomized to treatment-eight weekly asthma education sessions adapted from the Wee Wheezers program (n = 49)-or usual care (n = 46). Baseline and 3- and 12-month follow-up data were gathered from caregivers and from children's medical records. RESULTS: Treatment was associated with less bother from asthma symptoms, more symptom-free days, and better caregiver quality of life at follow-up for children 1-3, but not those 4-6, years of age. Treatment and control groups did not differ in caregiver asthma management behavior or children's acute care utilization. CONCLUSIONS: This home-based asthma education program was most effective with younger children; perhaps their caregivers were more motivated to learn about asthma management. Targeting psychosocial factors associated with asthma morbidity might also enhance the efficacy of asthma education for these families.     

The economic impact of severe asthma to low-income families

Background:  To estimate the direct and indirect costs of severe asthma and the economic impact of its management to low-income families in Salvador, Brazil.
Methods:  One hundred and ninety-seven patients with severe asthma and referred to a state-funded asthma center providing free treatment were evaluated. At registration, they were asked about family cost-events in the previous year and had a baseline assessment of lung function, symptoms and quality of life. During the subsequent year, they were reassessed prospectively.
Results:  One hundred-eighty patients concluded a 12-month follow-up. Eighty-four percent were female patients, and the median family income was US$ 2955/year. Forty-seven percent of family members had lost their jobs because of asthma. Total cost of asthma management took 29% of family income. After proper treatment, asthma control scores improved by 50% and quality of life by 74%. The income of the families increased by US$ 711/year, as their members went back to work. The total cost of asthma to the families was reduced by a median US$ 789/family/year. Consequently, an annual surplus of US$ 1500/family became available.
Conclusions:  Family costs of severe asthma consumed over one-fourth of the family income of the underprivileged population in a middle-income country. Adequate management brings major economic benefit to individuals and families.     

Linkage of low and high affinity anti-fluorescein idiotype families

Data presented in this study describes the isolation and characterization of two anti-fluorescein (Fl) hybridoma proteins 3–24 and 12–40, both IgG₁, with a K_a = 2.8 and 3.4 × 10⁶ M⁻¹, respectively, at 37°C. These clones inhibited (6.8 ± 2.8 − 20.8 ± 0.6% at l μg/well) the idiotype-anti-idiotype interactions (IAII) of anti-Fl clones 3–13 and 3–17, which define a previously described low affinity idiotype family. Antibodies 3–24 and 12–40 also inhibited (45.0 ± 3.0 and 61.3 ± 5.6%, respectively, at 1 μg/well) an IAII denfied by a high affinity (K_a = 5.2 ± 1.5 × 10⁹ M⁻¹ at 37°C) anti-Fl clone, 4-4. Hybridoma proteins 3–13 and 3–17 possess similar affinities for Fl (K_a = 3.8 ± 5.1 and 5.9 ± 4.0 × 10⁴ M⁻¹) and are known to be idiotypically unrelated to clone 4-4. While 3–24 and 12–40 appeared very similar, non-identity of their active sites was established by heterologous idiotypic inhibitions, fine specificity of binding and spectral measurements (Q_max and λ_max) of bound Fl. All IAII (3–13, 3–17, 9–40 and 4-4) were inhibited>80% by the presence of 10⁻⁴M F1 or F1-BSA, In addition, four intermediate affinity (6.0 × 10⁶ K_a 5.3 × 10⁸ M⁻¹) anti-FI clones, comprising a second previously described idiotype family (designated the 9–40 family) were further analyzed. Inhibition of the 9–40 IAII by all heterologous proteins in the 9–40 family (except clone 5–27), and clones 3–24, 12–40 and 4-4 ranged from 87.7 ± 1.3 to 95.4 ± 1.0% at 1μg/well. Titration of the 9–40 IAII inhibition by antibodies 9–40, 3–24, 12–40 or 4-4 generated essentially superimposable profiles. In reciprocal inhibition experiments, using the 4-4 IAII, clones 3–24, 12–40, 9–40 and 4-4 gave distinct idiotypic titration patterns. Thus, members of the 9–40 family, 3–24 and 12–40 were more closely related to intermediate affinity clone 9–40 than high affinity clone 4-4. Finally all members of the 9–40 family also significantly inhibited both the 3–13 and 3–17 IAII (11.8 ± 3.1 − 32.9 ± 6.1 at 1 μg/well) and gave distinct idiotypic inhibition profiles. Clones 3–24 and 12–40, characterized in this report, and the 9–40 family provide linkage between idiotypically distinct anti-Fl hybridoma proteins differing in affinity by> 20,000-fold. This linkage provides a greater span in affinity, than in all previously reported idiotypic families, within restricted or unrestricted systems.     

Orienting psychotherapists to better serve low income and minority patients

As a part of a larger NIMH study, 29 psychotherapists who were beginning training at a large urban psychiatric outpatient clinic participated in a special orientation program. The orientation program had the following objectives: First, to increase the therapists' knowledge about low income and minority patients; second, to increase the therapists' sensitivity to minority patients' requests and problems; and, third, to increase the effectiveness of the therapeutic encounter. The majority of therapists acted as their own controls; they saw patients before and then after participating in the orientation program. Data indicated that therapists improved significantly in knowledge, sensitivity, and effectiveness as a result of the special therapist orientation program.     

Bronchodilator responses in Chinese children from asthma index families and the general population

BACKGROUND: Although airway hyperresponsiveness to bronchoconstrictors has been extensively investigated, epidemiologic studies on airway hyperresponsiveness to bronchodilators are limited. OBJECTIVE: Our goal was to characterize the distribution and determinants of bronchodilator response (BDR) and bronchodilator hyperresponsiveness (BDHR) in rural Chinese children age 8 to 15 years. METHODS: Our study included children with and without asthma from asthma index families (1131 boys, 1143 girls) and subjects without asthma from general population controls (457 boys, 377 girls). BDR was calculated as [(post bronchodilator FEV1- baseline FEV1)/baseline FEV1] x 100. BDHR was defined as BDR greater than 12%. We investigated the distributions and major determinants of BDR and BDHR using scatterplots and multiple linear and logistic regression models. RESULTS: There was a gradient in BDR by asthma status and family history. The mean (+/-SD) BDR was 7% +/- 9% in subjects with asthma, 4% +/- 5% in subjects without asthma from index families, and 3% +/- 5% in controls. This trend was also seen for BHDR. BDR generally decreased with age. There was a notable sex difference in BDR around puberty in subjects with asthma. Sex difference was also seen in the relationship of BDR with body mass index. Additional variables correlated with BDR included height and prebronchodilator FEV1. Atopy was not correlated with BDR. In models accounting for these variables, chronic respiratory symptoms were associated with BDR and BDHR. CONCLUSION: In these Chinese children, multiple factors affected BDR, including age, sex, height, body mass index, asthma status, and family history of asthma. CLINICAL IMPLICATIONS: Because BDR can be affected by multiple factors, interpretation of clinical or research findings on BDR needs to take these factors into consideration.