scholarly journals Genetic variants associated with addictive behavior in Colombian addicted and non-addicted to heroin or cocaine

2013 ◽  
pp. 19-25 ◽  
Author(s):  
Carlos Isaza ◽  
Julieta Henao ◽  
Leonardo Beltrán ◽  
Liliana Porras-Hurtado ◽  
Martha Gonzalez ◽  
...  
Keyword(s):  
Substance Abuse ◽  
Family History ◽  
Genetic Variants ◽  
Illicit Drugs ◽  
Age Of Onset ◽  
Addictive Behavior ◽  
Control Group ◽  
Abcb1 Gene ◽  
History Of ◽  
Pcr Techniques

Objective: Determine the prevalence and compare some genetic markers involved in addictive behavior in agroup of addicts to derivative of coca (cocaine/crack) or heroin and a control group of non-addicted peoplematched for gender, age and ethnicity. Methods: A 120 addicts and 120 non-addicts Colombian male were surveyed and genotyped for 18 polymorphismof the OPRM1, DRD2, DRD4, SLC6A3, SLC6A4, ABCB1, DβH and CYP2B6 genes. For the identificationof alleles markers were used mini-sequencing and fragment multiplex PCR techniques; ethnicity of cases and controls was analyzed with 61 AIMs. Results: The age of onset use of heroin or coca derivatives (cocaine/crack) was 16.5±6 yrs and 99.2% of them consume several illicit drugs. It showed that controls and addicts belong to the same ethnic group. Significant differences between addicts and controls in relation to schooling, marital status, social security family history of substance abuse (p<0.001), Int8-VNTR SLC6A3 gene (p= 0.015) and SNP 3435C>T ABCB1 gene (p= 0.001)were found. Conclusion: The present results indicate that the VNTR-6R polymorphism of the gene SLC6A3 and the genotype 3435CC in the ABCB1 gene, are both associated with addictive behavior to heroin or cocaine.

scholarly journals Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Age Of Onset ◽  
Late Onset ◽  
Molecular Characteristics ◽  
Family History Of Cancer ◽  
Molecular Features ◽  
Age Of Diagnosis ◽  
History Of ◽  
History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

Season of birth interacts with measures of inbreeding in multiplex schizophrenia pedigrees: evidence from genetic isolates in Daghestan

Open Medicine ◽  
2006 ◽  
Vol 1 (4) ◽  
pp. 392-398
Author(s):  
Kazima Bulayeva ◽  
John McGrath
Keyword(s):  
Genetic Diversity ◽  
Family History ◽  
Age Of Onset ◽  
Population Genetic Study ◽  
Season Of Birth ◽  
High Genetic Diversity ◽  
Low Genetic Diversity ◽  
High Prevalence ◽  
History Of ◽  
Genetic Isolates

AbstractWhile the season-of-birth effect is one of the most consistent epidemiological features of schizophrenia, there is a lack of consistency with respect to the interaction between season of birth and family history of schizophrenia. Apart from family history, measures related to consanguinity can be used as proxy markers of genomic heterogeneity. Thus, these measures may provide an alternate, indirect index of genetic susceptibility. We had the opportunity to explore the interaction between season of birth and measure of consanguinity in well-described genetic isolates in Daghestan, some of which are known for their relatively high prevalence of schizophrenia. Our previous population-genetic study showed Daghestan has an extremely high genetic diversity between the ethnic populations and a low genetic diversity within them. The isolates selected for this study include some with more than 200 and some with less than 100 generations of demographical history since their founding. Based on pedigrees of multiply-affected families, we found that among individuals with schizophrenia, the measure of consanguinity was significantly higher in the parents of those born in winter/spring compared to those born in summer/autumn. Furthermore, compared to summer/autumn born, winter/spring born individuals with schizophrenia had an earlier age-of-onset, and more prominent auditory hallucinations. Our results suggest that the offspring of consanguineous marriages, and thus those with reduced allelic heterogeneity, may be more susceptible to the environmental factor(s) underpinning the season-of-the effect in schizophrenia.

Albumin in the Meconium of Infants with Cystic Fibrosis: A Preliminary Report

PEDIATRICS ◽  
1964 ◽  
Vol 33 (1) ◽  
pp. 115-119
Author(s):  
WILMER C. WISER ◽  
FRANCES R. BEIER
Keyword(s):  
Cystic Fibrosis ◽  
Family History ◽  
Protein Content ◽  
Preliminary Report ◽  
Diagnostic Procedure ◽  
Serum Proteins ◽  
Newborn Infants ◽  
Control Group ◽  
Abnormal Protein ◽  
History Of

Meconium samples were collected from 5 newborn infants, who had a known family history of cystic fibrosis of the pancreas but who did not present with meconium ileus, and 11 normal newborn infants. Extracts of the meconium samples were examined for the presence of serum proteins by paper and immunoelectrophoresis. Three of the infants who had a family history of cystic fibrosis of the pancreas showed protein in their meconium, and this was identified by immunoelectrophoresis as consisting mainly of albumin; each of these babies subsequently developed classic symptoms of cystic fibrosis of the pancreas. The two remaining infants had no albumin in the meconium and did not develop signs of cystic fibrosis. None of the meconium samples of the control group of infants contained detectable amounts of albumin. Possible sources of the abnormal protein content of meconium are discussed, and the suggestion that the finding of albumin in meconium of newborn infants may prove to constitute a valuable diagnostic procedure for screening newborn infants for cystic fibrosis of the pancreas is advanced.

Identification of Features Associated with Flying Phobia in Aircrew

1981 ◽  
Vol 139 (1) ◽  
pp. 38-42 ◽  
Author(s):  
R. C. B. Aitken ◽  
J. A. Lister ◽  
C. J. Main
Keyword(s):  
Family History ◽  
Skin Conductance ◽  
Predictive Value ◽  
Matched Control ◽  
Anxiety Symptoms ◽  
Control Group ◽  
Psychometric Tests ◽  
Matched Control Group ◽  
Spontaneous Fluctuation ◽  
History Of

SummaryThe psychological and physiological features of 20 aircrew consecutively referred for treatment of anxiety symptoms when flying were compared with a matched control group of uncomplaining aircrew. There were no significant differences between the two groups on psychometric tests of personality, though there were differences in skin conductance; the phobics had a higher rate of spontaneous fluctuation, and habituated less to a repeated auditory tone. More of the phobic group worried about their wives and acknowledged childhood and other adulthood phobias; more had a family history of an episode perhaps best described as flying trauma. Many were on an overseas posting when symptoms presented. These few features could correctly classify 85 per cent of the subjects into the phobic or control group. This type of ‘phobic aircrew index’ now requires to be validated prospectively for its predictive value.

scholarly journals Younger age of patients with myocardial infarction correlates with higher number of relatives with history of premature atherosclerosis

2020 ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Young Patients ◽  
Significant Risk ◽  
Control Group ◽  
Premature Coronary Artery Disease ◽  
Premature Atherosclerosis ◽  
Global Issues ◽  
Younger Age ◽  
History Of

Abstract Background. Premature coronary artery disease belongs to the most pressing global issues in a modern cardiology. Family history appears to be one of the most important and significant risk factors in young patients with myocardial infarction (MI). The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients <50 years with myocardial infarction (MI) compared to patients ≥ 50 years with MI and to young healthy people.Methods. The studied group (MI<50) consisted of 240 patients aged 26-49 years with MI. The control groups consisted of 240 patients (MI≥50) with MI aged 50-92 years and 240 healthy people aged 30-49 years.Results. There were statistically significant differences between the MI<50 and MI≥50 and young healthy groups regarding family history of premature MI/ischaemic stroke and percent of patients with of ≥2 relatives affected including parents, children, siblings, siblings of parents and grandparents (10.8%, 2.9%, 3.7%, respectively; p<0.0001). There was a statistically significant negative correlation between the age of the first episode of MI and the number of relatives with a history of premature MI/stroke (r=0.249, p<0.05) within all MI patients. Statistically significant differences between MI<50 and MI≥50 groups as well as young healthy control group were revealed regarding prevalence of smoking, body mass index (BMI), LDL, HDL, triglycerides (TG) and glucose levels.Conclusions. Younger age of patients with myocardial infarction correlates with a higher number of relatives with a history of premature MI/ischemic stroke. Thus, the family history of premature atherosclerosis involving not only the first-, but also the second-degree relatives, seems to be valuable and could be considered in an individual CVD risk evaluation in young people.

scholarly journals Study of risk factors and its correlation with constraint induced movement therapy for atherosclerosis in patients of coronary artery disease and their offspring

2020 ◽  
Vol 7 (3) ◽  
pp. 446
Author(s):  
Venugopal Margekar ◽  
Shweta Thakur ◽  
O. P. Jatav ◽  
Pankaj Yadav
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Positive Family History ◽  
Surrogate Marker ◽  
Control Group ◽  
Medical College ◽  
Constraint Induced Movement Therapy ◽  
Group Data ◽  
History Of ◽  
Artery Disease

Background: A significant percent of cardiovascular event occurs without well-known modifiable risk. A new tool for early identification for atherosclerosis is required for early intervention. Aims and objectives of the study was to study the risk factors for CAD and its correlation with CIMT.Methods: One hundred and forty subjects were studied for the risk factors of CAD in Department of Medicine of G.R. Medical College, Gwalior from 2012 to 2013. Out of 140 subjects, 100 were patients having CAD and 40 age matched subjects were included as control group. Data was also recorded from their offspring. High resolution B mode ultrasonography was performed to assess CIMT of carotid arteries. The maximum CIMT of any one side of carotid artery was taken for study.Results: CAD was more prevalent among males (78%). Majority of the offspring of cases had age between 28-42 years and majority were male (73%). Most common risk factors for CAD was dyslipidemia (48%), hypertension (24%), diabetes (12%) and smoking (21%), whereas in offspring’s of CAD patients, dyslipidemia was seen in 28%, hypertension in 3%, diabetes and tobacco smoking in 12% and 24% respectively. The CIMT of CAD patients was significantly increased with increasing the number of risk factors and the same pattern was also seen in controls.  The CIMT of asymptomatic offspring’s having positive family history was significantly more than the asymptomatic offspring without positive family history of CAD.Conclusions: CIMT measurements can be used as a surrogate marker of atherosclerosis as it has showed a direct link with number of risk factors of CAD. 

scholarly journals The Characteristics of Risk Factors in Chinese Young Women with Acute Coronary Syndrome

2020 ◽  
Author(s):  
Ruifang Liu ◽  
Fangxing Xu ◽  
Yujie Zhou ◽  
Tongku Liu
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Young Women ◽  
Early Onset ◽  
Young Female ◽  
Cardiac Insufficiency ◽  
Control Group ◽  
Significant Difference ◽  
Gynecological Diseases ◽  
History Of

Abstract Background In recent years, the prevalence rate of ACS in Chinese young women has been increasing significantly, becoming the main cause of death in young female. This study aimed to investigate the characteristics and difference of risk factors in Chinese young women with ACS and to provide references for ACS prevention and treatment. Methods A 1:1 case-control study was conducted to evaluate risk factors of 415 young female patients with ACS (ACS group) who underwent PCI treatment and 415 young female cases without ACS (control group) who were hospitalized and confirmed by coronary angiography to exclude coronary heart disease from January 2010 to August 2016. The average age of the cases in the two groups was respectively (40.77±4.02) years-old and (40.57±4.01) years-old (P> 0.05). Results The risk factors in ACS group were overweight (64.10%), hypertension (49.88%), hyperlipidemia (35.66%), diabetes (23.37%), depression or anxiety disorder (16.62%), gynecological diseases (16.39%), Hyperuricemia (15.18%), family history of early onset coronary heart disease (14.94%), hyperhomocysteinemia (11.33%), hypothyroidism(14.96%), hypercholesterolemia (8.43%) and high c-reactive protein (7.47%), and were statistically significant difference (P<0.01) compared with that of control group. The average number of risk factors per case in ACS group was significantly more than that of control groups (P<0.01). There was a statistically significant difference in the number of combined risk factors of the overweight cases compared between two groups (P<0.01). Regression analysis showed that hyperlipidemia, hyperhomocysteinemia, overweight（obesity）, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases were independent risk factors (P<0.01). The bivariate correlation analysis between CRP level and age was r= -0.158 (P<0.01). This result showed the younger ACS patient is the higher serum CRP. Conclusion The independent risk factors of ACS in young women are hyperlipidemia, hyperhomocysteinemia, overweight, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases. The co-existence of multiple risk factors is the main cause suffering from ACS in young women.

scholarly journals Clinical, epidemiological and autoimmune associations in childhood vitiligo in Qatar

2020 ◽  
Vol 6 (2) ◽  
pp. 151
Author(s):  
Haya Al Mannai ◽  
Mohamed Allam ◽  
Hassan Riad
Keyword(s):  
Family History ◽  
Autoimmune Diseases ◽  
Age Of Onset ◽  
Positive Family History ◽  
Thyroid Peroxidase ◽  
Base Line ◽  
Adult Onset ◽  
Prognostic Features ◽  
History Of ◽  
The Mean

<p class="abstract"><strong>Background:</strong> Childhood vitiligo although clinically similar to adult onset vitiligo but it has distinct clinical, epidemiological and prognostic features compared to adult onset vitiligo.</p><p class="abstract"><strong>Methods:</strong> This is a retrospective study that was carried out on 85 pediatric patients up to age of 18 years old with the diagnosis of vitiligo, where the clinical and epidemiological data  including clinical type of vitiligo, family history of autoimmune diseases like thyroid disorders and diabetes mellitus and laboratory results including anti-thyroid peroxidase antibodies (anti-TPO antibodies), anti-parietal cell antibodies, antinuclear antibodies (ANA), Vitamin D and Vitamin B12 were retrieved from the files of these patients.<strong></strong></p><p class="abstract"><strong>Results:</strong> The mean age of the children affected by vitiligo was 10.4 years, the mean age of onset of vitiligo was 5.4 years, 54 (63.5%) percent were girls and 31 (36.5%) were boys. A positive family history of vitiligo was found in 44.7% of the participants, family history of DM was found in 64.7% of patients and family history of thyroid disease was found in 32.9% of the participants. The prevalence of thyroid autoimmunity was found to be in 22.4% of total participants.</p><p class="abstract"><strong>Conclusions:</strong> Childhood vitiligo has distinct clinical features, more common family history for autoimmune diseases and thyroid autoantibodies rather than overt clinical diseases, which raise the necessity to perform a routine initial immunological and thyroid screening in children with vitiligo and to repeat them at annual bases if there were abnormal values at base line or strong family history.</p>

scholarly journals Association between family history and the onset age of essential hypertension in Han population in Shanghai China

2019 ◽  
Author(s):  
li anle ◽  
Qian Peng ◽  
Yue Qin Shao ◽  
Yi Ying Zhang ◽  
Fang Xiang
Keyword(s):  
Essential Hypertension ◽  
Family History ◽  
Genetic Factors ◽  
Nuclear Family ◽  
Age Of Onset ◽  
Control Group ◽  
Case Group ◽  
Onset Age ◽  
Han Population ◽  
The Difference

Abstract Importance Genetic factors are important influencing factors of essential hypertension, and family history (FH) is an important marker of genetic factors. Objective To explore the association between family history and the onset age of essential hypertension in Han population in Shanghai China. Methods According to l:l matched pairs design，342 precursor of hypertension and 342 controls were selected and investigate their nuclear family members in the case-control study. The diagnostic information of hypertension in all relatives of these two groups was investigated. The method of genetic epidemiology research was used to explore the effect of family history. Results The average prevalence of hypertension was 23.32%. The prevalence of hypertension of first-degree relatives was 33.99%; the prevalence of second- degree relatives was 17.60%; the prevalence of third-degree relatives was 13.51%. All prevalence of hypertension of case group relatives were significantly higher than that of control group relatives. The average onset age in population with positive FH is 48.74±11.16 years old, and the average onset age in population with negative FH is 54.38±9.87 years old. The difference about two FH groups showed statistically significant (t=4.589, P<0.001). The average onset age of offspring with father, mother, grandpa, grandma, maternal grandpa or maternal grandma positive was respectively 48.42± 11.16, 49.16±11.12, 39.55±11.95, 39.88±11.90, 43.67±9.77 or 43.64±10.21 years old; and the average onset age of children with father, mother, grandpa, grandma, maternal grandpa or maternal grandma negative was respectively 51.90± 10.81, 51.17±11.04, 51.07±10.59, 51.08±10.60, 50.50±11.09 or 50.57±11.06 years old. The difference about two groups showed statistically significant. Conclusion Family history has a positive effect on the occurrence of hypertension, and lead to earlier age of onset of offspring. The effects are different among parent and grandparent in Han in Shanghai China.

scholarly journals Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Monika Chorąży ◽  
Natalia Wawrusiewicz-Kurylonek ◽  
Edyta Adamska-Patruno ◽  
Olga Zajkowska ◽  
Katarzyna Kapica-Topczewska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cell ◽  
Genetic Variants ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Control Group ◽  
T Cell Homeostasis ◽  
Single Nucleotide Variants ◽  
Cell Homeostasis ◽  
Cd40 Gene

Purpose. Multiple sclerosis (MS) is an autoimmune disease, and genetic factors play an important role in its pathogenesis and progression. The aim of our study was to evaluate the frequencies of alleles and genetic variants of the T-cell homeostasis-related genes, in subjects with MS, as well as to investigate the association with MS clinical manifestations and disability. Methods. 94 subjects with MS and 160 healthy individuals have been genotyped for seven common single-nucleotide variants in IL-2RA, CTLA4, CD40, and PADI4 genes. The ages of onset, duration of the disease, and clinical condition of the MS subjects were analysed. We used the Chi2 test confirmed with Fisher’s exact test for statistical analysis. Results. The frequency of allele T and CT/TT genotypes (rs7093069) in the IL2RA gene, as well as the T allele and CT/TT genotypes in rs12722598, were significantly higher in the control group. The significant differences between studied groups we also found for the G allele and GG/GA genotypes of rs3087243 in CTLA4 gene, which were more common among the control group. The heterozygous genotype TC (rs1883832) of CD40 gene was more common in the control subjects, and the frequency of the alleles and genotypes in the rs1748033 of the PADI4 gene did not differ between the studied groups. Between the studied genotypes, we did not observe any significant differences in the age of onset and duration of disease, including sex stratification. Conclusion. Our results highlight the protective role of some of the T-cell homeostasis-related genetic variants in MS development, but not in its clinical manifestation.

Sign in / Sign up

Export Citation Format

Share Document