scholarly journals Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

2017 ◽  
Vol 34 (1) ◽  
Author(s):  
Ángela Leite ◽  
Maria Alzira P. Denis ◽  
Jorge Sequeiros ◽  
Constança Paúl
Keyword(s):  
At Risk ◽  
Late Onset ◽  
Genetic Diseases ◽  
Presymptomatic Testing

Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases

2016 ◽  
Vol 22 (2) ◽  
pp. 244-249 ◽  
Author(s):  
Ângela Leite ◽  
Maria Alzira P. Dinis ◽  
Jorge Sequeiros ◽  
Constança Paúl
Keyword(s):  
Late Onset ◽  
Genetic Diseases ◽  
Illness Representations ◽  
Presymptomatic Testing

A controlled family study of late-onset non-affective psychosis (late paraphrenia)

1997 ◽  
Vol 170 (6) ◽  
pp. 511-514 ◽  
Author(s):  
R. J. Howard ◽  
C. Graham ◽  
P. Sham ◽  
J. Dennehey ◽  
D. J. Castle ◽  
...  
Keyword(s):  
At Risk ◽  
Late Onset ◽  
Psychiatric Morbidity ◽  
Late Life ◽  
Lifetime Risk ◽  
First Degree Relatives ◽  
Healthy Elderly ◽  
Increased Risk ◽  
Age Range ◽  
The Relationship

BackgroundThe relationship between those schizophrenia-like conditions that have their onset in late life and early-onset schizophrenia is unclear. Very few family history studies of patients with late-onset psychosis have been reported, and it is not known whether their relatives have an increased risk of psychosis.MethodInformation was collected on the psychiatric morbidity of 269 first-degree relatives of patients with schizophrenia or delusional disorder with an onset after the age of 60 (late paraphrenia), and 272 first-degree relatives of healthy elderly control subjects, using a research diagnostic instrument.ResultsWith a narrow age range (15–50 years) at risk, the estimated lifetime risk of schizophrenia was 1.3% in the relatives of both cases and controls. With a wider age range (15–90 years) at risk, estimated lifetime risk of schizophrenia was 2.3% for the relatives of cases, and 2.2% for the relatives of controls. However, depression was significantly more common among the relatives of cases than controls.ConclusionThose schizophrenia-like psychoses with onset in late life are not genetically associated with schizophrenia.

Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge

2017 ◽  
Vol 20 (3) ◽  
pp. 158-165
Author(s):  
Ângela Leite ◽  
Fernanda Leite ◽  
Maria Alzira P. Dinis
Keyword(s):  
At Risk ◽  
Late Onset ◽  
Neurological Diseases ◽  
Objective Knowledge

scholarly journals Prevalence of At-Risk Marriages among Couples attending Premarital Screening (PMS) Programs: A Systematic Review and Meta-Analysis

2020 ◽  
Author(s):  
BibiAsma Syed ◽  
Mashael Alshafai ◽  
Karam Turk-Adawi
Keyword(s):  
Systematic Review ◽  
At Risk ◽  
Sensitivity Analysis ◽  
Publication Bias ◽  
Meta Analysis ◽  
Genetic Diseases ◽  
World Health ◽  
Middle East Countries ◽  
Mesh Terms ◽  
Premarital Screening

Background: Hemoglobinopathies are among the most common inherited genetic diseases. The World Health Organization estimates that at least 5% of the world’s population are carriers for hemoglobinopathies (2.9% for thalassemia and 2.3% for sickle cell disease). Programs like premarital screening (PMS) have been developed in most Middle East countries on a mandatory basis to reduce atrisk marriages by providing counseling after a confirmed “genetic carrier” state for hemoglobinopathies. Aim/Objective: The aim of this systematic review and meta-analysis was to estimate the prevalence of atrisk marriages globally and see the variation by region, income level, ethnicity, study period, implementation year of PMS program, study design and consanguinity proportion. Methods: Different databases such as PubMed, Science Direct, and Scopus were searched systematically by using key terms and MeSH Terms. Studies from Google Scholar and reference lists of studies were also collected, and the author extracted all relevant data. Two reviewers independently conducted quality assessment by using Hoy et al (2012) risk of bias tool. Quality effects model (QEM) was used due to considerable heterogeneity observed between studies. Subgroup analysis and sensitivity analysis were also performed for assessing the causes of heterogeneity. Results: A total of 15 studies were included in this meta-analysis. The overall pooled prevalence of at-risk marriages among total couples at-risk was 64% (95% CI: 49%- 78%). Estimates of several subgroups were found to be different as compared to the overall pooled estimate. Funnel plot and Doi plot indicated the presence of publication bias. Sensitivity analysis including only studies with low risk led to a pooled estimate of 52% (CI: 46%, 57%) and indicated absence of publication bias. Conclusion and recommendations: The pooled estimates varied widely and there was a substantial heterogeneity among studies, therefore, there is a need for more well-designed studies across different countries. Moreover, the importance of the quality of counseling sessions should be stressed and combined with efforts in other community sectors, such as high schools where students can attain high knowledge regarding genetic diseases before the age of marriage.

Presymptomatic Testing for Genetic Diseases of Later Life

Drugs & Aging ◽  
1995 ◽  
Vol 7 (2) ◽  
pp. 117-130 ◽  
Author(s):  
Belinda J.F. Rossiter ◽  
C. Thomas Caskey
Keyword(s):  
Genetic Diseases ◽  
Later Life ◽  
Presymptomatic Testing

Huntington's disease: prediction and prevention

1988 ◽  
Vol 319 (1194) ◽  
pp. 285-298 ◽  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Late Onset ◽  
Predictive Test ◽  
Prediction And Prevention ◽  
Feasible Alternative ◽  
Dna Restriction ◽  
The Individual ◽  
First Time

The identification of a DNA restriction fragment length polymorphism closely linked to Huntington’s disease on the short arm of chromosome 4 has for the first time allowed presymptomatic prediction to be undertaken in first-degree relatives at risk. The late and variable onset of this dominantly inherited disorder makes such prediction a powerful and potentially valuable aid in genetic counselling, but in the absence of effective therapy there are serious ethical reservations concerning such a predictive test. The new developments have stimulated an active and informative debate among professionals and family members on whether and how predictive tests should be used. Guidelines have emerged which should be useful not only for Huntington’s disease, but for other serious late-onset neurogenetic disorders. Meanwhile, studies in Wales and elsewhere have not only confirmed the original linkage but have excluded multi-locus heterogeneity as a significant problem. Genetic prediction for the individual at risk remains critically dependent on a suitable family structure, present in only a minority of families in Wales. A more feasible alternative for most families is prenatal exclusion, which can allow risk prediction for a pregnancy without altering the situation for the person at risk. This approach has already been applied in Wales; the experience gained will be useful in full prediction, which is currently being introduced.

Pre-transplant assessment of pp65-specific CD4 T cell responses identifies CMV-seropositive patients treated with rATG at risk of late onset infection

2020 ◽  
Vol 211 ◽  
pp. 108329 ◽  
Author(s):  
Maria O. López-Oliva ◽  
Virginia Martínez ◽  
Aranzazu Rodríguez-Sanz ◽  
Laura Álvarez ◽  
M. José Santana ◽  
...  
Keyword(s):  
At Risk ◽  
T Cell ◽  
Late Onset ◽  
T Cell Responses ◽  
Cd4 T Cell ◽  
Cell Responses ◽  
Late Onset Infection

Serum Proteins in Huntington's Chorea

1966 ◽  
Vol 112 (488) ◽  
pp. 723-726 ◽  
Author(s):  
Valerie Cowie ◽  
D. B. Gammack
Keyword(s):  
At Risk ◽  
Theoretical Basis ◽  
Serum Proteins ◽  
Late Onset ◽  
Dominant Gene ◽  
Reproductive Period ◽  
Huntington's Chorea ◽  
Number Of Children

Huntington's chorea is transmitted by a rare autosomal Mendelian dominant gene. Its hereditary transmission is facilitated by a late onset of the condition in many cases. Often the first signs are not seen until late in the reproductive period, so that it is not uncommon for a patient already to have produced a number of children before the diagnosis is made. On a theoretical basis, 50 per cent. of these offspring are at risk for carrying the gene and consequently for developing the condition themselves.

scholarly journals FDG and Amyloid PET in Cognitively Normal Individuals at Risk for Late-Onset Alzheimer’s Disease

2014 ◽  
Vol 04 (02) ◽  
pp. 15-26 ◽  
Author(s):  
John Murray ◽  
Wai H. Tsui ◽  
Yi Li ◽  
Pauline McHugh ◽  
Schantel Williams ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
At Risk ◽  
Late Onset ◽  
Amyloid Pet ◽  
Cognitively Normal ◽  
Normal Individuals
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