scholarly journals Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
John Castiblanco ◽  
Juan Camilo Sarmiento-Monroy ◽  
Ruben Dario Mantilla ◽  
Adriana Rojas-Villarraga ◽  
Juan-Manuel Anaya
Keyword(s):  
Early Onset ◽  
Segregation Analysis ◽  
Age Of Onset ◽  
Late Onset ◽  
Familial Aggregation ◽  
Major Gene ◽  
Sibling Pairs ◽  
Autoimmune Syndrome ◽  
Multiple Autoimmune Syndrome ◽  
Increased Risk

Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

Age, Age of Onset and Course of Primary Depressive Illness in the Elderly*

1983 ◽  
Vol 28 (2) ◽  
pp. 102-104 ◽  
Author(s):  
Martin G. Cole
Keyword(s):  
Elderly Patients ◽  
Depressive Episode ◽  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
The Elderly ◽  
Depressive Illness ◽  
Physical Illness ◽  
Course Of Illness

Thirty-eight elderly patients with primary depressive illness (Feighner criteria) were followed up for 7–31 months. In the absence of persistent organic signs and severe physical illness, age of onset (first depressive episode after 60) but not age was significantly related to course of illness. Compared to early onset depressives, late onset depressives were more likely to remain completely well during the follow-up period and less likely to have frequent or disabling relapses.

scholarly journals Evidence for biological inheritance of the eosinophil response to internal parasites in southeastern Brazil

1999 ◽  
Vol 22 (4) ◽  
pp. 481-485 ◽  
Author(s):  
Fátima Conti ◽  
Glória M. Duccini Dal' Colletto ◽  
Mary Furlan Feitosa ◽  
Henrique Krieger
Keyword(s):  
Segregation Analysis ◽  
Familial Aggregation ◽  
Major Gene ◽  
Minas Gerais ◽  
The State ◽  
Southeastern Brazil ◽  
Nuclear Families ◽  
Internal Parasites ◽  
Intestinal Worms

One hundred and seventy-seven individuals belonging to 120 complete or incomplete nuclear families from Bambui, in the State of Minas Gerais, southeastern Brazil, were studied in order to examine causes of variation in the eosinophil rate among subjects infested by intestinal worms with an extra-digestive cycle. Segregation analysis without correction for skewness showed that the hypothesis of the presence of an additive major gene was consistent with the data, although a dominant, recessive, or a multifactorial hypothesis could not account properly for the observed significant familial aggregation. The most parsimonious correction for skewness showed similar results, but could not distinguish between dominant and recessive models, although co-dominance was rejected. Since these models assume that skewness was attributable to the commingling of two distributions, these results seem to agree with those for uncorrected data. These findings suggest that several genetically independent factors determine the resistance/susceptibility to helminth infestation mainly through their ability to influence the eosinophil response.

Early and Late Onset Bipolar Disorders in Older Adults

2017 ◽  
Vol 41 (S1) ◽  
pp. S211-S211
Author(s):  
N. Smaoui ◽  
L. Zouari ◽  
N. Charfi ◽  
M. Maâlej-Bouali ◽  
N. Zouari ◽  
...  
Keyword(s):  
Older Adults ◽  
Bipolar Disorder ◽  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Bipolar Disorders ◽  
Medical Diagnoses ◽  
The Mean ◽  
Bipolar Patients

IntroductionAge of onset of illness may be useful in explaining the heterogeneity among older bipolar patients.ObjectiveTo examine the relationship of age of onset with clinical, demographic and behavioral variables, in older patients with bipolar disorder.MethodsThis was a cross-sectional, descriptive and analytical study, including 24 patients suffering from bipolar disorders, aged 65 years or more and followed-up in outpatient psychiatry unit at Hedi Chaker university hospital in Sfax in Tunisia. We used a standardized questionnaire including socio-demographic, behavioral and clinical data. Age of onset was split at age 40 years into early-onset (< 40 years; n = 12) and late-onset (≥ 40 years; n = 12) groups.ResultsThe mean age for the entire sample was 68.95 years. The mean age of onset was 39.95 years. The majority (60%) of patients were diagnosed with bipolar I. Few meaningful differences emerged between early-onset and late-onset groups, except that tobacco use was significantly higher in the late-onset group (66.6% vs. 16.6%; P = 0.027). No significant differences between the early-onset and late-onset groups were seen on demographic variables, family history and number of medical diagnoses or presence of psychotic features.ConclusionOur study found few meaningful behavioral differences between early versus late age at onset in older adults with bipolar disorder.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Maternofetal outcomes in early versus late onset pre-eclampsia: a comparative study

2019 ◽  
Vol 8 (2) ◽  
pp. 548
Author(s):  
Poornima Shankar ◽  
Kavitha Karthikeyan ◽  
Amrita Priscilla Nalini ◽  
Sindhura M. ◽  
Gowtham Kim
Keyword(s):  
Risk Factors ◽  
Gestational Age ◽  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
Fetal Outcomes ◽  
Chi Square ◽  
Onset Type ◽  
Significant Difference ◽  
Early Onset Preeclampsia

Background: Preeclampsia is being increasingly recognized as two different entities: early-onset preeclampsia occurring at less than 34 weeks of gestation, and late-onset disease occurring at 34 or more weeks of gestation. Early-onset and late-onset pre-eclampsia are found to have different implications for the mother and neonate. The aim of this study is to compare the risk factors, maternal and fetal outcomes in early (<34 weeks) versus late (≥34weeks) onset preeclampsia.Methods: 208 patients diagnosed with pre-eclampsia in Chettinad Academy of Research and Education over a period of three years (From January 2014 to December 2016) were retrospectively studied. Patients were classified as early onset and late onset pre-eclampsia based on the gestational age of onset. Data on risk factors, maternal and fetal outcomes were collected and analyzed using Chi Square and Fisher’s test and compared.Results: The overall preeclampsia rate was 6.3%. Early onset and late onset were 34.6% and 65.3% respectively and the rate increased with increasing gestational age.35.3% of patients with late onset preeclampsia and 55.6% patients of early onset type required more than one drug which is a statistically significant difference. Proteinuria more than 3gm/l/day was significantly more in late onset preeclampsia than in early onset preeclampsia. 55.5% of patients with early onset pre-eclampsia required MgSO4 when compared to 17.4%. There was no statistically significant difference in the rate of caesarean section (61.1% vs 73.5%). Altered coagulation profile was significantly more in early onset preeclampsia (11.1%). The incidence of oligohydramnios, SGA and low APGAR at 5 minutes of birth were significantly high in early onset pre-eclampsia when compared to late onset type.Conclusions: Patients with early onset pre-eclampsia are found to have significantly higher rates of specific maternal and fetal morbidity when compared to the late onset type.

scholarly journals Clinical and Molecular Comparative Study of Colorectal Cancer Based on Age-of-onset and Tumor Location: Two Main Criteria for Subclassifying Colorectal Cancer

2019 ◽  
Vol 20 (4) ◽  
pp. 968 ◽  
Author(s):  
Edurne Álvaro ◽  
Juana M. Cano ◽  
Juan L. García ◽  
Lorena Brandáriz ◽  
Susana Olmedillas-López ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
Cpg Island ◽  
Low Frequency ◽  
Tumor Location ◽  
Molecular Characteristics ◽  
Braf Mutations ◽  
Rectal Cancers

Our aim was to characterize and validate that the location and age of onset of the tumor are both important criteria to classify colorectal cancer (CRC). We analyzed clinical and molecular characteristics of early-onset CRC (EOCRC) and late-onset CRC (LOCRC), and we compared each tumor location between both ages-of-onset. In right-sided colon tumors, early-onset cases showed extensive Lynch syndrome (LS) features, with a relatively low frequency of chromosomal instability (CIN), but a high CpG island methylation phenotype. Nevertheless, late-onset cases showed predominantly sporadic features and microsatellite instability cases due to BRAF mutations. In left colon cancers, the most reliable clinical features were the tendency to develop polyps as well as multiple primary CRC associated with the late-onset subset. Apart from the higher degree of CIN in left-sided early-onset cancers, differential copy number alterations were also observed. Differences among rectal cancers showed that early-onset rectal cancers were diagnosed at later stages, had less association with polyps, and more than half of them were associated with a familial LS component. Stratifying CRC according to both location and age-of-onset criteria is meaningful, not only because it correlates the resulting categories with certain molecular bases, but with the confirmation across larger studies, new therapeutical algorithms could be defined according to this subclassification.

scholarly journals Atrial Fibrillation Increases the Risk of Early-Onset Dementia in the General Population: Data from a Population-Based Cohort

2020 ◽  
Vol 9 (11) ◽  
pp. 3665
Author(s):  
Dongmin Kim ◽  
Pil-Sung Yang ◽  
Gregory Y.H. Lip ◽  
Boyoung Joung
Keyword(s):  
Atrial Fibrillation ◽  
Early Onset ◽  
Late Onset ◽  
Population Data ◽  
The Elderly ◽  
Population Based ◽  
Early Onset Dementia ◽  
Increased Risk ◽  
Late Onset Dementia

Atrial fibrillation (AF) is considered a risk factor for dementia, especially in the elderly. However, the association between the two diseases is not well identified in different age subgroups. The association of incident AF with the development of dementia was assessed from 1 January 2005, to 31 December 2013, in 428,262 participants from a longitudinal cohort (the Korea National Health Insurance Service-Health Screening cohort). In total, 10,983 participants were diagnosed with incident AF during the follow-up period. The incidence of dementia was 11.3 and 3.0 per 1000 person-years in the incident-AF and without-AF groups, respectively. After adjustment for clinical variables, the risk of dementia was significantly elevated by incident AF, with a hazard ratio (HR) of 1.98 (95% confidence interval [CI]: 1.80–2.17, p < 0.001), even after censoring for stroke (HR: 1.74, 95% CI: 1.55–1.94, p < 0.001). The HRs of incident AF for dementia onset before the age of 65 (early-onset dementia) and for onset after the age of 65 (late-onset dementia) were 2.91 (95% CI: 1.93–4.41) and 1.67 (95% CI: 1.49–1.87), respectively. Younger participants with AF were more prone to dementia development than older participants with AF (p for trend < 0.001). AF was associated with an increased risk of both early- and late-onset dementia, independent of clinical stroke.

scholarly journals Interaction between asthma and smoking increases the risk of adult airway obstruction

2014 ◽  
Vol 45 (3) ◽  
pp. 635-643 ◽  
Author(s):  
Marianne Aanerud ◽  
Anne-Elie Carsin ◽  
Jordi Sunyer ◽  
Julia Dratva ◽  
Thorarinn Gislason ◽  
...  
Keyword(s):  
Airway Obstruction ◽  
Early Onset ◽  
Linear Models ◽  
Late Onset ◽  
Smoking Status ◽  
Random Effect ◽  
Chronic Obstructive ◽  
Lung Function Decline ◽  
Increased Risk ◽  
Never Smokers

The aim of the present study was to analyse the interaction between asthma and smoking in the risk of adult airway obstruction, accounting for atopy.In the European Community Respiratory Health Survey, 15 668 persons aged 20–56 years underwent spirometry in 1991–1993 and 9 years later (n=8916). Risk of airway obstruction and lung function decline associated with smoking and early-onset (<10 years of age) and late-onset (>10 years of age) asthma were analysed with generalised estimating equation models and random-effect linear models, adjusting for covariates. Interaction of asthma with smoking was expressed as relative excess risk due to interaction (RERI).A 20-fold increase in adult airway obstruction was found among those with early-onset asthma independently of smoking status (never-smokers: OR 21.0, 95% CI 12.7–35; current smokers: OR 23.7, 95% CI 13.9–40.6). Late-onset asthma was associated with airway obstruction, with a stronger association among current smokers (OR 25.6, 95% CI 15.6–41.9) than among never-smokers (OR 11.2, 95% CI 6.8–18.6) (RERI 12.02, 95% CI 1.96–22.07). Stratifying by atopy, the association between smoking and asthma was most pronounced among nonatopics.Early- and late-onset asthma were associated with 10–20-fold increased risk of adult airway obstruction. Smoking increased the risk of adult airway obstruction in subjects with asthma onset after age 10 years. Investigation of measures potentially preventive of chronic obstructive pulmonary disease development following asthma is urgently needed.

scholarly journals Altered Proteolysis in Fibroblasts of Alzheimer Patients with Predictive Implications for Subjects at Risk of Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Alessandra Mocali ◽  
Nunzia Della Malva ◽  
Claudia Abete ◽  
Vito Antonio Mitidieri Costanza ◽  
Antonio Bavazzano ◽  
...  
Keyword(s):  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
Low Cost ◽  
Apoe Genotype ◽  
Normal Subjects ◽  
Culture Conditions ◽  
Cultured Fibroblasts ◽  
Laboratory Tool

There is great interest in developing reliable biomarkers to support antemortem diagnosis of late-onset Alzheimer’s disease (AD). Early prediction and diagnosis of AD might be improved by the detection of a proteolytic dysfunction in extracts from cultured AD fibroblasts, producing altered isoelectrophoretic forms of the enzyme transketolase (TK-alkaline bands). The TK profile and apolipoprotein E (APOE) genotype were examined in fibroblasts from 36 clinically diagnosed probable late-onset sporadic AD patients and 38 of their asymptomatic relatives, 29 elderly healthy individuals, 12 neurological non-AD patients, and 5 early-onset AD patients. TK alterations occurred in (i) several probable AD patients regardless of age-of-onset and severity of disease; (ii) all early-onset AD patients and APOEε4/4 carriers; and (iii) nearly half of asymptomatic AD relatives. Normal subjects and non-AD patients were all negative. Notably, culture conditions promoting TK alterations were also effective in increasing active BACE1 levels. Overall, the TK assay might represent a low-cost laboratory tool useful for supporting AD differential diagnosis and identifying asymptomatic subjects who are at greater risk of AD and who should enter a follow-up study. Moreover, the cultured fibroblasts were confirmed as a usefulin vitromodel for further studies on the pathogenetic process of AD.

scholarly journals Whole-exome analysis in Parkinson’s disease reveals a high burden of ultra rare variants in early onset cases

2020 ◽  
Author(s):  
Bernabe I. Bustos ◽  
Dimitri Krainc ◽  
Steven J. Lubbe ◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Rare Variants ◽  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Late Onset ◽  
Genetic Component ◽  
Genetic Risk Assessment ◽  
Whole Exome

ABSTRACTParkinson’s disease (PD) is a complex neurodegenerative disorder with a strong genetic component. We performed a “hypothesis-free” exome-wide burden-based analysis of different variant frequencies, predicted functional impact and age of onset classes, in order to expand the understanding of rare variants in PD. Analyzing whole-exome data from a total of 1,425 PD cases and 596 controls, we found a significantly increased burden of ultra-rare (URV= private variants absent from gnomAD) protein altering variants (PAV) in early-onset PD cases (EOPD, <40 years old; P=3.95×10−26, beta=0.16, SE=0.02), compared to LOPD cases (>60 years old, late-onset), where more common PAVs (allele frequencies <0.001) showed the highest significance and effect (P=0.026, beta=0.15, SE=0.07). Gene-set burden analysis of URVs in EOPD highlighted significant disease- and tissue-relevant genes, pathways and protein-protein interaction networks that were different to that observed in non-EOPD cases. Heritability estimates revealed that URVs account for 15.9% of the genetic component in EOPD individuals. Our results suggest that URVs play a significant role in EOPD and that distinct etiological bases may exist for EOPD and sporadic PD. By providing new insights into the genetic architecture of PD, our study may inform approaches aimed at novel gene discovery and provide new directions for genetic risk assessment based on disease age of onset.

scholarly journals Incident Crohn’s Disease as a Risk Factor for Colorectal Cancer in the First 10 Years after Diagnosis: A Nationwide Population-Based Study

2021 ◽  
Vol 10 (20) ◽  
pp. 4663
Author(s):  
Hyunil Kim ◽  
Ji Hoon Kim ◽  
Jung Kuk Lee ◽  
Dae Ryong Kang ◽  
Su Young Kim ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Age Groups ◽  
Population Based ◽  
Hazard Ratios ◽  
Increased Risk ◽  
Cox Proportional Hazard Regression

We investigated the risk of colorectal cancer (CRC) in patients with Crohn’s disease (CD) using the claims data of the Korean National Health Insurance during 2006–2015. The data of 13,739 and 40,495 individuals with and without CD, respectively, were analyzed. Hazard ratios (HRs) were calculated using multivariate Cox proportional hazard regression tests. CRC developed in 25 patients (0.18%) and 42 patients (0.1%) of the CD and non-CD groups, respectively. The HR of CRC in the CD group was 2.07 (95% confidence interval (CI), 1.25–3.41). The HRs of CRC among men and women were 2.02 (95% CI 1.06–3.87) and 2.10 (95% CI, 0.96–4.62), respectively. The HRs of CRC in the age groups 0–19, 20–39, 40–59, and ≥60 years were 0.07, 4.86, 2.32, and 0.66, respectively. The HR of patients with late-onset CD (≥40 years) was significantly higher than that of those with early-onset CD (<40 years). CD patients were highly likely to develop CRC. Early-onset CD patients were significantly associated with an increased risk of CRC than matched individuals without CD. However, among CD patients, late-onset CD was significantly associated with an increased risk of CRC.

Sign in / Sign up

Export Citation Format

Share Document