Search results for " Counseling"

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

Career practitioners' conceptions of competency for social media in career services

2014

This article reports findings from a phenomenographic investigation into career practitioners' understanding of competency for social media in career services. Sixteen Danish and Finnish practitioners with experience using social media in career services were interviewed in focus groups. Competency for social media in career services was conceived as (i) an ability to use social media for delivering information, (ii) an ability to use social media for delivering career services, (iii) an ability to utilise social media for collaborative career exploration and (iv) an ability to utilise social media for co-careering. The findings can be used to develop pre-service and in-service training of …

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

2020

Purpose: To survey risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) practice and advice regarding hormone replacement therapy (HRT) in women with Lynch syndrome. Methods: We conducted a survey in 31 contributing centers from the Prospective Lynch Syndrome Database (PLSD), which incorporates 18 countries worldwide. The survey covered local policies for risk-reducing hysterectomy and BSO in Lynch syndrome, the timing when these measures are offered, the involvement of stakeholders and advice regarding HRT. Results: Risk-reducing hysterectomy and BSO are offered to path_MLH1 and path_MSH2 carriers in 20/21 (95%) contributing centers, to path_MSH6 carriers in 19/21 (91%) and…

The Validity of Social Media-Based Career Information

2018

The use of social media expands the availability and sources of career information. However, the authorship of this information has changed from traditional print media and multimedia sources created by experts to social media–based career information created by the users themselves. Although variability in career information validity has been an issue for some time, rapid growth in the use of social media creates some unique challenges. The ease with which social media–based career information can spread creates the potential for rapid widespread dissemination of disinformation and biased perceptions. Potential sources of invalidity include intentional bias (with or without profit motive),…

Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic…

2021

International audience; Background: Few data exist concerning genotype-phenotype relationships in left ventricular noncompaction (LVNC).Methods and results: From a multicenter French Registry, we report the genetic and clinical spectrum of 95 patients with LVNC, and their genotype-phenotype relationship. Among the 95 LVNC, 45 had at least 1 mutation, including 14 cases of mutation in ion channel genes. In a complementary analysis including 16 additional patients with ion channel gene mutations, for a total of 30 patients with ion channel gene mutation, we found that those patients had higher median LV ejection fraction (60% vs 40%; P < .001) and more biventricular noncompaction (53.1% vs 18…

BRCA1 and BRCA2 variants of uncertain clinical significance and their implications for genetic counseling

2009

The new world of human genetic technologies: The policy environment and impacts of genetic screening tests

1995

Today it is possible to screen for mutated DNA sequences which do not induce any diseases but predispose to develop diseases under certain environmental condition. These latter disorders are called “multifactorial” since they result from the interplay of genetic and environmental factors. Among multifactorial disorders there are job-related diseases whose genetic component can be identified by genetic screening tests. The use of these tests to predict occupational disorders, to cut down on them, and to save costs—in particular for absenteeism, health care, and lawsuits—is of interest to employers and insurers. As for employees, it could entail an extremely deep invasion of privacy, economic…

Anxiety in Older Adolescents at the Time of COVID-19

2020

Corona Virus Disease-19 (COVID-19) is a catastrophic health risk, with psychological, emotional, social, and relational implications. From the early stages of the virus spread, the elderly population was identified as the most vulnerable, and health authorities have rightly focused on this frailer population. Conversely, less attention was given to the emotional and psychological dimensions of children and adolescents. Moreover, even though they were the subjects whose lives and health were at low risk, they, nevertheless, had to face a reality full of anxiety, fears, and uncertainties. The current study investigated the state of anxiety and emotional awareness in a sample of healthy older …

Counseling intervention to improve quality of life in patients with pre-existing acute myocardial infarction (AMI) or chronic obstructive pulmonary d…

2018

In the light of diagnostic and therapeutic advances, patients with a previous myocardial infarction or with a diagnosis of chronic obstructive pulmonary disease are vulnerable and need continuous monitoring over time. These pathological frameworks have a strong impact on the economy and on the status of the population and require effective and low-cost solutions.The objective of this clinical trial is to evaluate the efficacy in the short term of a telephone counseling intervention to modify the lifestyles of these two patient populations.In May 2015, all the patients included in the study underwent a questionnaire to evaluate their eating and smoking habits and their quality of life. After…

A Mobile-Assisted Working Model for Supporting Daily Family Life

2015

Despite rapid technological development, very few new technology-assisted tools have been developed specifically for use in family services. This article describes a new, mobile-assisted working model designed to enhance the quality of daily family life. The model has its origins in the existing research on daily family life and on the diary method, which has been widely used in data collection in family research. The model provides support for the daily life of client families in the intervals between meetings with family counselors via the use of text messages. The pilot study explored family members’ and family counselors’ experiences of using the model. Data on 26 parents and four chil…