Search results for " counseling"
showing 10 items of 146 documents
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
2013
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…
BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.
2007
PURPOSE: To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible association between the higher frequency of BRCA1 mutations and a specific familial profile. EXPERIMENTAL DESIGN: A consecutive series of 650 patients with BC and/or OC diagnosed between 1999 and 2005 were recruited from the Southern Italian region of Sicily, after interview at the "Regional Reference Centre for the Characterization and Genetic Screening of Hereditary Tumors" at the University of Palermo. Genetic counselling allowed us to recruit a total…
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…
A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer
2005
A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…
From telescope to binoculars. Dyadic outcome resulting from psychological counselling for infertile couples undergoing ART
2018
Objective This longitudinal study aims to evaluate the effect of psychological counselling on quality of life, marital satisfaction and need for parenthood in couples undergoing fertility treatments (ART). Background Recent guidelines on the ART suggest that psychological counselling should target both members of the infertile couple in order to improve their conjoint management of the infertility-related stress. However, studies on the dyadic outcome of couples are scarce. Methods 262 patients were originally considered in the study and completed questionnaires on quality of life, need for parenthood and marital satisfaction, before treatment (T1) and at the day of intrauterine inseminatio…
Initial Evaluation of a Smoking Cessation Program Incorporating Physical Activity Promotion to Greek Adults in Antismoking Clinics
2012
The purpose of this study was to evaluate an initial application of a smoking cessation program that integrated the promotion of physical activity (PA) as a cessation aid to Greek adults in antismoking clinics. From an initial pool of 50, 12 men and 28 women from Central Greece completed the program, and 18 of them succeeded in quitting for 1 year after the program. Additionally, after the program, they increased their PA. Suggestions for future applications of the program are further discussed. peerReviewed
The Respect of Recommendations Provided in an International Travelers' Medical Service: Far From the Cup to the Lips
2013
Equipe plutôt EA Pôle MERS CT3 EJ3; Background: It is not clearly known how frequently the recommendations given to travelers are followed, and what factors could encourage compliance with these recommended measures. Methods: Adults consulting at a Medical Department for International Travelers (International Travelers' Medical Services, ITMS) in October and November 2010 were asked to answer a questionnaire before their journey. They were also contacted for a post-travel telephone interview to determine whether they had followed the recommendations regarding vaccinations and malaria prevention, and the reasons for poor or noncompliance with these recommendations. Results A total of 353 tra…
How does a lifestyle intervention during pregnancy influence perceived barriers to leisure-time physical activity? The Norwegian fit for delivery stu…
2018
Abstract Background To develop effective health promotional and preventive prenatal programs, it is important to understand perceived barriers to leisure-time physical activity during pregnancy, including exercise and sport participation. The aims of the present study was 1) to assess the effect of prenatal lifestyle intervention on the perceived barrier to leisure-time physical activity during pregnancy and the first year after delivery and 2) identify the most important perceived barriers to leisure-time physical activity at multiple time points during and after pregnancy. Methods This secondary analysis was part of the Norwegian Fit for Delivery study, a combined lifestyle intervention e…
Perceiving Need for Lifestyle Counseling
2012
OBJECTIVE To investigate the proportion of individuals at high risk of type 2 diabetes who perceive the need for lifestyle counseling, factors associated with this perception, and whether the perceived need is associated with subsequent attendance in lifestyle intervention. RESEARCH DESIGN AND METHODS Baseline and intervention data were obtained from 10,149 participants in a Finnish National Diabetes Prevention Project. RESULTS In total, 36% of men and 52% of women perceived the need for counseling. Most of the risk factors did not increase the perceived need for counseling. Those agreeing to attend supervised lifestyle intervention were more likely to report a perceived need than those wh…
Serum basal hormone concentrations and muscle mass in aging women: Effects of strength training and diet
2006
This study examined the effects of strength training and diet on serum basal hormone concentrations and muscle mass in aging women. Fifty-one women age 49 to 74 y were divided into two groups: strength training and nutritional counseling (n = 25), and strength training (n = 26). Both groups performed strength training twice a week for 21 wk. Nutritional counseling was given to attain sufficient energy and protein intake and recommended intake of fat and fiber. We found that the cross-sectional area of the quadriceps femoris increased by 9.5 ± 4.1% in the nutritional counseling group versus 6.8 ± 3.5% in the strength training only group after training (P < 0.052). Nutritional counseling e…