scholarly journals Characterization of polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 and relationship to the alcoholism in a Colombian population

2015 ◽  
pp. 176-182 ◽  
Author(s):  
Claudia Méndez ◽  
Mauricio Rey

Objective: Identify and characterize polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 in a Colombian population residing in the city of Bogotá and determine its possible relationship to the alcoholism. Methods: ADH2, ADH3, ALDH2, and CYP2E1 genotypes a population of 148 individuals with non-problematic alcohol and 65 individuals with alcoholism were determined with TaqMan probes and PCR-RFLP. DNA was obtained from peripheral blood white cells. Results: Significant difference was found in family history of alcoholism and use of other psychoactive substances to compare alcoholics with controls. When allelic frequencies for each category (gender) were considered, frequency of A2 allele carriers in ADH2 was found higher in male patients than controls. In women, the relative frequency for c1 allele in CYP2E1 was lower in controls than alcoholics. The ALDH2 locus is monomorphic. No significant differences in allele distributions of the loci examined to compare two populations were observed, however when stratifying the same trend was found that these differences tended to be significant. Conclusions: This study allows us to conclude the positive association between family history of alcoholism and alcoholism suggesting that there is a favourable hereditary predisposition. Since substance dependence requires interaction of multiple genes, the combination of genotypes ADH2 * 2, CYP2E1 * 1 combined with genotype homozygous ALDH2 * 1 found in this study could be leading to the population to a potential risk to alcoholism.

1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S810-S810
Author(s):  
Fatma Hammami ◽  
Makram Koubaa ◽  
Amal Chakroun ◽  
Khaoula Rekik ◽  
Fatma Smaoui ◽  
...  

Abstract Background Lymph node tuberculosis (LNTB) represents the most common site of extrapulmonary tuberculosis. Among children, due to non-specific clinical features, the diagnosis is often delayed. We aimed to compare the clinical, therapeutic and evolutionary features of LNTB between adults and children. Methods We conducted a retrospective study including patients hospitalized for LNTB in the infectious diseases and pediatric department between 1993 and 2018. Children aged ≤18 years were included. Results Overall, we encountered 231 cases of LNTB. There were 40 children (17.3%) with a mean age of 11±4 years and 191 adults (82.7%) with a mean age of 42±16 years. As to gender, females were more affected (adults: 67% vs children: 70%), with no significant difference (p &gt;0.05). A family history of tuberculosis was significantly more frequent among children (20% vs 6.3%; p=0.01). Raw milk consumption (38.2% vs 30%; p &gt;0.05) and close contact with animals (29.8% vs 35%; p &gt;0.05) were noted among both adults and children. Fever (53.4% vs 32.5%; p=0.01), night sweats (35.8% vs 10%; p=0.001), loss of appetite (38.2% vs 17.5%; p=0.01) and weight loss (35.1% vs 15%; p=0.01) were significantly more frequent among adults. Tuberculin skin test was positive in 75.8% of the cases among adults and in 86.2% of the cases among children (p &gt;0.05). Multifocal tuberculosis was significantly more frequent among adults (23.8% vs 5.7%; p=0.01). Antitubercular therapy was prescribed for a mean duration of 10±4 months among adults and for 9±3 months among children, with no significant difference (p &gt;0.05). Side effects of antitubercular drugs were more frequent among adults (33% vs 10.3%), with a significant difference (p=0.004). Comparison of the disease evolution showed no significant difference between adults and children, regarding recovery (94.8% vs 90%), relapse (5.2% vs 5%) and death (0.5% vs 2.5%). Conclusion The clinical presentation of LNTB among children was less common and misleading. A family history of tuberculosis and a high index of suspicion might shorten the diagnostic delay. Disclosures All Authors: No reported disclosures


2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Ravi Philip Rajkumar

Introduction. Substance use disorders (SUDs) are commonly associated with a variety of psychiatric disorders. Community-based studies have found a significant association between SUDs and sexual dysfunction in men, with a possible causal relation in the case of nicotine. Methods. The case records of 105 men presenting to a clinic for patients with psychosexual disorders were reviewed. Men with and without comorbid SUDs were compared in terms of demographic, clinical, and familial variables. Results. 25 of the 105 men (23.8%) had a lifetime diagnosis of SUD, and 19 (18.1%) had a current SUD. The commonest substances involved were nicotine (n = 21, 20%) and alcohol (n = 9, 9.5%). Men with comorbid SUDs were more likely to report a family history of substance dependence, particularly alcoholism. Single men with SUDs were more likely to have a comorbid mood disorder. Conclusion. SUDs, particularly nicotine and alcohol use disorders, are common comorbidities in patients with psychosexual disorders. Identifying and treating these disorders in this population are important aspects of management.


Author(s):  
Inês Carolina Siqueira Freitas ◽  
Micheli Cristiane Hintz ◽  
Larissa Chaiane Orth ◽  
Tamara Gonçalves da Rosa ◽  
Betine Moehlecke Iser ◽  
...  

Abstract Objective The present study aims to compare the maternal and fetal outcomes of parturients with and without a gestational diabetes diagnosis. Methods A case-control study including parturients with (cases) and without (control) a gestational diabetes diagnosis, who delivered at a teaching hospital in Southern Brazil, between May and August 2018. Primary and secondary data were used. Bivariate analysis and a backward conditional multivariate logistic regression were used to make comparisons between cases and controls, which were expressed by odds ratio (OR), with a 95% confidence interval (95%CI) and a statistical significance level of 5%. Results The cases (n = 47) were more likely to be 35 years old or older compared with the controls (n = 93) (p < 0.001). The cases had 2.56 times greater chance of being overweight (p = 0.014), and a 2.57 times greater chance of having a positive family history of diabetes mellitus (p = 0.01). There was no significant difference regarding weight gain, presence of a previous history of gestational diabetes, height, or delivery route. The mean weight at birth was significantly higher in the infants of mothers diagnosed with diabetes (p = 0.01). There was a 4.7 times greater chance of macrosomia (p < 0.001) and a 5.4 times greater chance of neonatal hypoglycemia (p = 0.01) in the infants of mothers with gestational diabetes. Conclusion Therefore, maternal age, family history of type 2 diabetes, obesity and pregestational overweightness are important associated factors for a higher chance of developing gestational diabetes.


2021 ◽  
Author(s):  
Li Shu ◽  
Yingying Zhao ◽  
Yanqi Shen ◽  
Xiaolu Li ◽  
Mengting Qiu ◽  
...  

Abstract Background: Lipid accumulation product (LAP) is considered to be a new convenient useful indicator to assess the visceral fat. However, the association between LAP and family history of diabetes remains an undetermined concept. Therefore, we aimed to evaluate the risk factors of impaired fasting glucose (IFG) and diabetes, and explore the possible interacting influences of LAP with other factors on the risk of IFG and diabetes among Chinese normotension adults.Methods: A multistage stratified cluster sampling method was conducted to select urban residents aged 45-86 years in Bengbu, China. For each eligible participant, data on questionnaire survey, anthropometric measurements and laboratory tests were obtained. LAP was calculated and divided into four categories according to quartile. The effects of body mass index (BMI), waist circumference (WC), waist to height ratio (WHtR) and LAP for predicting IFG and diabetes were performed by multiple logistic regressions and receiver operating characteristic (ROC) analyses. The interaction effects were evaluated by relative excess risk of interaction (RERI), attributable proportion due to interaction (AP) and synergy index (SI). If the 95% CI of RERI and AP do not include 0, the 95% CI of SI do not include 1, the interactions are statistically significant. Results: 6467 normotension subjects (2695 men and 3772 women) were enrolled in our study, the prevalence of IFG and diabetes were 9.37% and 14.33%, respectively. It was revealed that the prevalence rates of IFG and diabetes were gradually increased according to increasing LAP quartiles (P for trend <0.001). When assessed using ROC curve analysis, LAP exhibited higher diagnostic accuracy for identifying IFG and diabetes than BMI, the area under the AUC curve was 0.650 (95% CI: 0.637 to 0.662). After adjustment for age, sex, educational level and other confounding factors, multivariate logistic regression analyses indicated that subjects with the fourth quartile of LAP were more likely to develop IFG (adjusted OR: 2.735, 95% CI: 1.794-4.170) and diabetes (adjusted OR: 1.815, 95% CI: 1.297-2.541) than those with the first quartile. A significant interaction between LAP and family history of diabetes was observed in participants (RERI=1.538, 95%CI: 0.167 to 3.612; AP=0.375, 95%CI: 0.118 to 0.631; SI=1.980, 95%CI: 1.206 to 3.251), but there is no statistically significant difference between LAP and general obesity. However, a significant interaction between LAP and abdominal obesity was indicated by the value of RERI (1.492, 95%CI: 0.087 to 3.723) and AP (0.413, 95%CI: 0.014 to 0.756), but not the value of SI (1.824, 95%CI: 0.873 to 3.526). Conclusion: LAP significantly associates with IFG and diabetes risk in the study population, it has better performance than BMI, WC and WHtR. Apart from that, our results also demonstrated that there might be synergistic effect between LAP and family history of diabetes on the risk of IFG and diabetes.


2020 ◽  
Author(s):  
Ruifang Liu ◽  
Fangxing Xu ◽  
Yujie Zhou ◽  
Tongku Liu

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.


2020 ◽  
Vol 27 (05) ◽  
pp. 891-894
Author(s):  
Shahid Ishaq ◽  
Ejaz Mazari ◽  
Fazal ur Rehman

Objectives: Febrile seizures (FS) are the most common type of seizures and typically transpire in children with ages from 6 to 60 months. This study was planned to find out major clinical risk factors for seizures in febrile children who were aged 6 to 60 months. A total of 100 febrile children aged 6 to 60. Study Design: Analytical Study. Setting: Department of Neurology, Children’s Hospital and the Institute of Child Health, Multan. Period: From 1st April 2018 to 31st December 2018. Material & Methods: Group A had 40 children with febrile seizures while group B had 60 febrile children but without seizures. Demographic features along with family history of (H/O) epilepsy as well as family history of febrile seizure, types of seizure and infection diseases were noted and analyzed using SPSS version 20. Odds ratio was calculated for various risk factors. Chi square test was applied and P value < 0.05 was considered as significant. Results: Out of a total of 100 children, there were 54 (54.0%) male and 46 (46.0%) female. There was no statistical difference in terms of gender between the two groups (p value = 0.566). Overall, mean age of the children was 26.02 months with standard deviation of 13.4 months. There were 28 (70.0%) children who reported with simple seizures while complex seizures were found in 12 (30.0%) cases. Statistically significant difference (p value = 0.001) was seen in terms of types of infections between the two study groups. When risk of seizures for various risk factors was calculated, family H/O FS, family H/O epilepsy, and upper RTI were as 14, 7 and 3 times respectively and turned out to be the major risk factors for seizures in febrile children. Conclusions: Family H/O FS, family H/O epilepsy and upper RTIs are the major risk factors related with seizures in febrile children. Measures to prevent these risk factors can decrease the burden of FS in our population.


2017 ◽  
Vol 4 (4) ◽  
pp. 1218
Author(s):  
Balakrishnan Nadesan ◽  
Mani Madhavan Sachithananthamoorthi ◽  
Sivaraman Thirumalaikumarasamy ◽  
Ezhilarasu Ramalingam

Background: Hypertension is considered as a major health issue in developed as well as developing countries and its possible origin during childhood prompts pediatricians to routinely include measurement of blood pressure (BP) as an integral part of pediatric physical examination. The objectives of the study were to evaluate the normal range of blood pressure in adolescent school going students of 12-16 years, prevalence of hypertension and relationship of BP with variables like age, body mass index (BMI), socioeconomic status and family history of hypertension.Methods: A cross sectional study was undertaken for a period of one year in adolescent school children in age groups between 12-16 years. Detailed clinical examination was done in 1060 adolescent school children and BP was recorded in right upper limb and correlation of BP with BMI, family history of hypertension and diabetes were studied.Results: Mean systolic and diastolic pressure showed linear relationship with age. There was a highly statistically significant difference between mean systolic and diastolic blood pressure between lower and middle socio-economic class. Prevalence of obesity in our study was 1.13%, overweight was 7.83%. Prevalence of hypertension in obese children was 33.33% and in overweight children 18.07%. Family history of hypertension and diabetes carry a significant correlation with elevated systolic and diastolic blood pressure in adolescents.Conclusions: This study revealed that socio economic factors play a significant role in determining the blood pressure of the individual. Children of middle class have significantly elevated mean systolic pressure and mean diastolic pressure than low socio-economic groups. 


2012 ◽  
Vol 17 (2) ◽  
Author(s):  
Arleana Do Bom Parto Ferreira Almeida ◽  
Daphine Ariadne Jesus de Paula ◽  
Valéria Dutra ◽  
Edson Moleta Colodel ◽  
Luciano Nakazato ◽  
...  

Leishmaniases are neglected zoonoses that are increasing in Brazil. The dog is considered the main reservoir of the visceral form in urban areas of Brazil and also important in maintaining the cycle of transmission of the cutaneous form in endemic areas. We used PCR-RFLP to identify the species of Leishmania involved in canine infection in Cuiaba City, Mato Grosso. Samples of bone marrow and lymph were collected from 181 dogs, of which 7.2% tested positive with indirect immunofluorescence and 24.9% using PCR-RFLP; a significant difference (p ≤ 0.05), had been possible to characterize the species Leishmania (L.) chagasi. This will aid in developing prevention measures and in the control of disease in Cuiaba and the surrounding area.


Sign in / Sign up

Export Citation Format

Share Document