Investigation of single-strand conformational polymorphism of the TP53 gene in women with a family history of breast cancer

Breast cancer in families with germ line mutations in the TP53 gene has been described in the medical literature. Mutation screening for susceptibility genes should allow effective prophylactic and preventive measures. Using single-strand conformational polymorphism, we screened for mutations in exons 5, 6, 7 and 8 of gene TP53 in the peripheral blood of 8 young non-affected members (17 to 36 years old) of families with a history of breast cancer. Studies of this type on young patients (mean age, 25 years) are very rare in the literature. The identification of these mutations would contribute to genetic counseling of members of families with predisposition to breast cancer. The results obtained did not show any polymorphism indicating mutation. In our sample, the familial tumorigenesis is probably related to other gene etiologies.

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene

Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-alpha 1(I) and pro-alpha 2(I) chains of type I collagen, respectively. A Brazilian family that showed variable expression of autosomal dominant OI was identified and characterized. Scanning for mutations was carried out using SSCP and DNA sequence analysis. The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S). The proband's mother had the disease signs, but without bone fractures, as did five of nine uncles and aunts of the patient. All of them carried the mutation, which was excluded in four healthy brothers of the patient's mother. This is the first description in a Brazilian family with OI showing variable expression; only one among seven carriers for the c.3235G>A mutation developed bone fractures, the most striking clinical feature of this disease. This finding has a significant implication for prenatal diagnosis in OI disease.

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter -> q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling. Copyright (C) 2012 S. Karger AG, Basel

Family satisfaction with critical care: measurements and messages

PURPOSE OF REVIEW: Family satisfaction in the ICU reflects the extent to which perceived needs and expectations of family members of critically ill patients are met by healthcare professionals. Here, we present recently developed tools to assess family satisfaction, with a special focus on their psychometric properties. Assessing family satisfaction, however, is not of much use if it is not followed by interpretation of the results and, if needed, consecutive measures to improve care of the patients and their families, or improvement in communication and decision-making. Accordingly, this review will outline recent findings in this field. Finally, possible areas of future research are addressed. RECENT FINDINGS: To assess family satisfaction in the ICU, several domains deserve attention. They include, among others, care of the patient, counseling and emotional support of family members, information and decision-making. Overall, communication between physicians or nurses and members of the family remains a key topic, and there are many opportunities to improve. They include not only communication style, timing and appropriate wording but also, for example, assessments to see if information was adequately received and also understood. Whether unfulfilled needs of individual members of the family or of the family as a social system result in negative long-term sequels remains an open question. SUMMARY: Assessing and analyzing family satisfaction in the ICU ultimately will support healthcare professionals in their continuing effort to improve care of critically ill patients and their families.

2013 Massachusetts Family Impact Seminar: Youth at Risk, Part 2

The youth of Massachusetts are of primary concern to legislators and citizens. This briefing report features three essays by experts — Fern Johnson, Deborah Frank, and Donna Haig Friedman — who focus on three aspects of children in need: children in foster care who need adoption, children who are hungry, and children who are homeless. Each report has further and more detailed suggestions for helping these children in need; below is a summary of the problems we face.

Correlates of tobacco cessation counseling among Hispanic physicians in the US: a cross-sectional survey study.

BACKGROUND: Physician advice is an important motivator for attempting to stop smoking. However, physicians' lack of intervention with smokers has only modestly improved in the last decade. Although the literature includes extensive research in the area of the smoking intervention practices of clinicians, few studies have focused on Hispanic physicians. The purpose of this study was to explore the correlates of tobacco cessation counseling practices among Hispanic physicians in the US. METHODS: Data were collected through a validated survey instrument among a cross-sectional sample of self-reported Hispanic physicians practicing in New Mexico, and who were members of the New Mexico Hispanic Medical Society in the year 2001. Domains of interest included counseling practices, self-efficacy, attitudes/responsibility, and knowledge/skills. Returned surveys were analyzed to obtain frequencies and descriptive statistics for each survey item. Other analyses included: bivariate Pearson's correlation, factorial ANOVAs, and multiple linear regressions. RESULTS: Respondents (n = 45) reported a low level of compliance with tobacco control guidelines and recommendations. Results indicate that physicians' familiarity with standard cessation protocols has a significant effect on their tobacco-related practices (r = .35, variance shared = 12%). Self-efficacy and gender were both significantly correlated to tobacco related practices (r = .42, variance shared = 17%). A significant correlation was also found between self-efficacy and knowledge/skills (r = .60, variance shared = 36%). Attitudes/responsibility was not significantly correlated with any of the other measures. CONCLUSION: More resources should be dedicated to training Hispanic physicians in tobacco intervention. Training may facilitate practice by increasing knowledge, developing skills and, ultimately, enhancing feelings of self-efficacy.

THE IMPACT OF FAMILY HISTORY ON MEDULLARY THYROID CANCER IN MEN2A PATIENTS

The American Thyroid Association recently classified all MEN2A-associated codons into increasing risk levels A-C and stated that some patients may delay prophylactic thyroidectomy if certain criteria are met. One criterion is a less aggressive family history of MTC but whether families with the same mutated codon have variable MTC aggressiveness is not well described. We developed several novel measures of MTC aggressiveness and compared families with the same mutated codon to determine if there is significant inter-familial variability. Pedigrees of families with MEN2A were reviewed for codon mutated and proportion of RET mutation carriers with MTC. Individuals with MTC were classified as having local or distant MTC and whether they had progressive MTC. MTC status and age were assessed at diagnosis and most advanced MTC stage. For those without MTC, age was recorded at prophylactic thyroidectomy or last follow-up if the patient did not have a thyroidectomy. For each pedigree, the mean age of members without MTC, with MTC, and the proportion of RET mutation carriers with local or distant and progressive MTC were calculated. We assessed differences in these variables using ANOVA and the Fisher’s exact test. Sufficient data for analysis were available for families with mutated codons 609 (92 patients from 13 families), 618 (41 patients from 7 families), and 634 (152 patients from 13 families). The only significant differences found were the mean age of patients without MTC between families with codon 609 and 618 mutations even after accounting for prophylactic thyroidectomy (p=0.006 and 0.001, respectively), and in the mean age of MTC diagnosis between families with codon 618 and 634 mutations even after accounting for symptomatic presentation (p=0.023 and 0.014, respectively). However, these differences may be explained by generational differences in ascertainment of RET carriers and the availability of genetic testing when the proband initially presented.

Smoking cessation in pregnancy : abbreviated prenatal counseling protocols for WIC educators and/or health care professionals /

"Reprint December 1994"--P. [2] of cover.

Sudden infant death syndrome : a guide for nurse family counselors /

"August, 1980."

Increasing male involvement in family planning decision making: trial of a social-cognitive intervention in rural Vietnam

We tested a social-cognitive intervention to influence contraceptive practices among men living in rural communes in Vietnam. It was predicted that participants who received a stage-targeted program based on the Transtheoretical Model (TTM) would report positive movement in their stage of motivational readiness for their wife to use an intrauterine device (IUD) compared to those in a control condition. A quasi-experimental design was used, where the primary unit for allocation was villages. Villages were allocated randomly to a control condition or to two rounds of intervention with stage-targeted letters and interpersonal counseling. There were 651 eligible married men in the 12 villages chosen. A significant positive movement in men's stage of readiness for IUD use by their wife occurred in the intervention group, with a decrease in the proportions in the precontemplation stage from 28.6 to 20.2% and an increase in action/maintenance from 59.8 to 74.4% (P < 0.05). There were no significant changes in the control group. Compared to the control group, the intervention group showed higher pros, lower cons and higher self-efficacy for IUD use by their wife as a contraceptive method (P < 0.05). Interventions based on social-cognitive theory can increase men's involvement in IUD use in rural Vietnam and should assist in reducing future rates of unwanted pregnancy.

Perceptions of family environment, body image and self-esteem of eating disordered and non-eating disordered women

This study explored the perceptions of family environment, body image and self esteem of women who suffer from anorexia nervosa, bulimia nervosa, and depression. Using a nonequivalent control group design, one hundred and fifty women with anorexia nervosa (n = 50), bulimia nervosa (n = 50), and depression (n = 50) were given the Family Environment Scale (FES) and the Eating Disorders Inventory-2 (EDI-2). The objectives of this study were to: (1) study how women with anorexia nervosa and bulimia nervosa perceive their family environment as measured by the FES; (2) compare and contrast perceptions of family environment of women with anorexia nervosa and bulimia nervosa with the control group; (3) compare and contrast perceived levels of self esteem and body image as measured by the EDI-2 of women with anorexia nervosa and bulimia nervosa with the control group; and (4) examine the perceived family environments of eating disordered and non-eating disordered women with regard to body image and self esteem. Results suggested, women who suffered from anorexia nervosa or bulimia nervosa scored significantly lower (p $<$.021) on the Expressiveness, Intellectual-Cultural Orientation, and Active-Recreational subscales of the FES. The results also indicated that women who suffered from bulimia nervosa scored significantly higher (p $<$.015) than women who suffered from anorexia nervosa on the Conflict and Independence subscales of the FES. The results of studying these three populations reflected that women who suffered from anorexia nervosa scored significantly different (p $<$.000) than women who suffered from bulimia nervosa on many of the subscales of the EDI-2. The findings of the study confirmed that women who suffered from anorexia nervosa or bulimia nervosa scored significantly different (p $<$.000) on the subscales of the EDI-2 compared to women who suffered from depression. It was also confirmed that a relationship does exist between perceptions of body image and self esteem and perceptions of family environment amongst women with anorexia nervosa and bulimia nervosa as compared to depressed women. The findings of the study indicated that women who suffered from anorexia nervosa tended to: be less expressive and independent; handle conflict less openly; have a greater drive for thinness; have greater body dissatisfaction; be more perfectionistic; and struggle more intensely with fears around maturity and social insecurity than did women who suffered from bulimia nervosa or depression. In addition, the findings of the study also suggested that women who suffered from bulimia nervosa tended to: be raised in homes where openly expressed anger is permitted amongst family members; have a lesser drive for thinness; have less body dissatisfaction; be less perfectionistic; and not struggle as intensely with fears around maturity and social insecurity as do women who suffered from anorexia nervosa, but more than women who suffer from depression. Treatment implications that may assist community college professors and counselors in meeting the special needs of this special group of women were also discussed. (Abstract shortened by UMI.) ^

An Analysis of the Implementation and Perceived Effectiveness of the SchoolMAX Family Portal

ABSTRACT Title of Document: AN ANALYSIS OF THE IMPLEMENTATION AND PERCEIVED EFFECTIVENESS OF THE SCHOOLMAX FAMILY PORTAL Warren Wesley Watts, Doctor of Education, 2015 Directed By: Margaret J. McLaughlin, Ph.D. Department of Counseling, Higher Education and Special Education School districts have spent millions of dollars implementing student information systems that offer family portals with web-based access to parents and students. One of the main purposes of these systems is to improve school-to-home communication. Research has shown that when school-to-home communication is implemented effectively, parent involvement improves and student achievement increases (Epstein, 2001). The purpose of the study was to (a) understand why parents used or refrained from using the family portal and (b) determine what barriers to use might exist. To this end, this descriptive study identified the information parent users accessed in the SchoolMAX family portal, determined how frequently parents accessed the portal, and ascertained whether parents perceived an increase in communication with their children about academic matters after they began accessing the portal. Finally, the study sought to identify whether barriers existed that prevented parents from using the family portal. The inquiry employed three data sources to answer the aforementioned queries. These sources included (a) a survey sent electronically to 19,108 parents who registered online for the SchoolMAX family portal; (b) SchoolMAX portal usage data from the student information system for system usage between January 1, 2015 and June 30, 2015; and (c) a paper survey sent to 691 parents of students that had never used the SchoolMAX family portal in one elementary school, one middle school and one high school that were representative of other schools in the district. Survey results indicated that parents at all grade levels used the family portal. Usage data also confirmed that approximately 19% of the students had parents who monitored their progress through the family portal. Usage data also showed that parents were monitoring approximately 25% of students in secondary schools (6th – 12th grade) and 16% of students in elementary schools. Of the wide menu of resources available through the SchoolMAX family portal, parents used three areas most frequently: attendance, daily grades, and report cards. Approximately 70% of parents responded that their communication had improved with their children about academic matters since they started using the SchoolMAX family portal, and 90% of parents responded that the SchoolMAX family portal was an effective or somewhat effective tool. Parents also expressed interest in the addition of additional information to the SchoolMAX family portal. Specifically, the top three additions parents wanted to see included homework assignments, high stakes test scores, and graduation requirements. Parents also reported that 92% of them spoke to their children at least 2 to 3 times per week about academics. Due to the low response rate of the parent non-user survey, potential barriers to using the SchoolMAX family portal could not be addressed in this study. However, this issue may be a useful research topic in a future study. Keywords: school to home communication, student information systems, family portal, parent portal

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.