Search results for "Family"
showing 10 items of 3539 documents
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
2011
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…
Dysfunctional cortical inhibition in adult ADHD: neural correlates in auditory event-related potentials.
2013
In recent times, the relevance of an accurate diagnosis of attention-deficit/hyperactivity disorder (ADHD) in adults has been the focus of several studies. No longer considered a pathology exclusive to children and adolescents, and taking into account its social implications, developing enhanced support tools for the current diagnostic procedure becomes a priority. Here we present a method for the objective assessment of ADHD in adults using chirp-evoked, paired auditory late responses (ALRs) combined with a two-dimensional ALR denoising scheme to extract correlates of intracortical inhibition. Our method allows for an effective single-sweep denoising, thus requiring less trials to obtain r…
Impaired regulation of emotion: Neural correlates of reappraisal and distraction in bipolar disorder and unaffected relatives
2015
Deficient emotion regulation has been proposed as a crucial pathological mechanism in bipolar disorder (BD). We therefore investigated emotion regulation impairments in BD, the related neural underpinnings and their etiological relevance for the disorder. Twenty-two euthymic patients with bipolar-I disorder and 17 unaffected first-degree relatives of BD-I patients, as well as two groups of healthy gender-, age- and education-matched controls (N=22/17, respectively) were included. Participants underwent functional magnetic resonance imaging while applying two different emotion regulation techniques, reappraisal and distraction, when presented with emotional images. BD patients and relatives …
Physician attitudes to blood pressure control
2011
OBJECTIVES: The Supporting Hypertension Awareness and Research Europe-wide (SHARE) physician survey aimed to qualify the key challenges that physicians face when trying to get patients to blood pressure (BP) goal. METHODS: The SHARE survey was open to physicians involved in the treatment of patients with hypertension, was anonymous, and was designed to take 15 min to complete. The survey included 45 questions covering physicians' demographic information, views on the BP targets recommended by the European Society of Hypertension-European Society of Cardiology guidelines, opinions on acceptable levels of BP control, and perceptions about the challenges associated with getting patients to BP …
Etiologic Heterogeneity Among Non-Hodgkin Lymphoma Subtypes: The InterLymph Non-Hodgkin Lymphoma Subtypes Project
2014
Non-Hodgkin lymphoma (NHL) is the most common hematologic malignancy and the fifth most common type of cancer in more developed regions of the world (1). Numerous NHL subtypes with distinct combinations of morphologic, immunophenotypic, genetic, and clinical features are currently recognized (2,3). The incidence of NHL subtypes varies substantially by age, sex, and race/ethnicity (4–7). However, the etiological implications of this biological, clinical, and epidemiological diversity are incompletely understood. The importance of investigating etiology by NHL subtype is clearly supported by research on immunosuppression, infections, and autoimmune diseases, which are the strongest and most e…
How do international gastric cancer prevention guidelines influence clinical practice globally?
2020
Clinical guidelines recommend particular approaches, including 'screen-and-treat' strategy for Helicobacter pylori, to prevent gastric cancer. However, little of this is implemented in clinical practice. The aim of the study was to identify barriers to implementation of international guidelines. A web-based questionnaire distributed globally to specialists in the field. Altogether 886 responses from 75 countries were received. Of the responders, 570 (64%) were men of mean age 47 years. There were 606 gastroenterologists and 65 epidemiologists among the responders. Altogether, 79.8% of the responders disagreed that the burden of gastric cancer is a diminishing problem. 'Screen-and-treat' str…
Correlation between GP-170 expression, prognosis, and chemoresistance of superficial bladder carcinoma.
2003
To study GP-170 in superficial bladder cancer at initial diagnosis and at recurrence and to evaluate if intravesical chemoprophylaxis modifies the expression of GP-170 in tumor recurrences. GP-170 was retrospectively assessed in 160 patients affected by primary superficial transitional cell carcinoma of the bladder and followed for up to 10 years. Eighty-four patients (52.5%) recurred after transurethral resection (TUR). Adjuvant intravesical chemotherapy after TUR was adopted in 52 patients. The correlations between GP-170 and G-grade, T-category, risk of recurrence and of progression, and adoption of adjuvant intravesical chemotherapy were investigated. The correlations between variations…
Childhood Family Problems and Current Psychiatric Problems among Young Violent and Property Offenders
1996
The main objective was to examine whether young property and violent offenders would differ from each other in the prevalence of childhood abuse and neglect experiences, prevalence of various early family problems, and prevalence of disruptive behavior disorders, depression, and substance use.Childhood abuse and neglect assessments and family problems were based on interview, questionnaire, and file data. Psychiatric diagnoses were made on the basis of a structured clinical interview.There were no statistically significant differences in the prevalence of childhood physical or psychological abuse, or neglect between the groups. According to the files, physical abuse was experienced by 57.5%…
Infant information processing and family history of specific language impairment: converging evidence for RAP deficits from two paradigms
2007
An infant's ability to process auditory signals presented in rapid succession (i.e. rapid auditory processing abilities [RAP]) has been shown to predict differences in language outcomes in toddlers and preschool children. Early deficits in RAP abilities may serve as a behavioral marker for language-based learning disabilities. The purpose of this study is to determine if performance on infant information processing measures designed to tap RAP and global processing skills differ as a function of family history of specific language impairment (SLI) and/or the particular demand characteristics of the paradigm used. Seventeen 6- to 9-month-old infants from families with a history of specific l…
Identification of resources and skills developed by partners of patients with advanced colon cancer: a qualitative study
2018
National audience; Les aidants familiaux jouent un rôle central auprès des patients présentant un cancer de stade avancé. Parmi les proches susceptibles d’apporter une aide aux personnes malades, les conjoints, en raison des liens qui les unissent et parce qu’ils partagent leur vie quotidienne, sont sans doute les plus confrontés à la maladie. Ils sont également majoritairement désignés comme étant l’aidant principal. L’irruption de la maladie et le besoin d’accompagnement qu’elle nécessite, viennent bouleverser en profondeur les différents équilibres structurant leur quotidien et leur organisation. Ils viennent aussi questionner la nature des relations qu’ils entretiennent, dans une divers…