scholarly journals “LCAT Deficiency: a Systematic Review With the Clinical and Genetic Description of Mexican Kindred”

2021 ◽  
Author(s):  
Roopa Mehta ◽  
Daniel Elías-López ◽  
Alexandro J. Martagon ◽  
Oscar A Pérez-Méndez ◽  
Maria Luisa Ordóñez Sánchez ◽  
...  
Keyword(s):  
Systematic Review ◽  
Latin America ◽  
Premature Coronary Artery Disease ◽  
Racial Groups ◽  
Premature Coronary Heart Disease ◽  
Prisma Statement ◽  
Age Of Diagnosis ◽  
Artery Disease ◽  
Lcat Deficiency ◽  
Progression Of Renal Disease

Abstract Background: LCAT deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). In this study the results of the first systematic review evaluating the ethnic distribution of LCAT deficiency are shown, with particular emphasis on Latin America with discussion of three Mexican-Mestizo probands. Methods:A systematic review was conducted following the PRISMA Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were considered for analysis. Results:The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethnic/racial groups. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with FED identified later than FLD (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD. In Latin America, 48 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). Of the Mexican probands, one showed a novel LCAT mutation. Conclusion: The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. No association was confirmed between ethnicity and LCAT mutation. There was a significantly greater risk of premature coronary artery disease in FED compared to FLD. In FLD, the emphasis should be in preventing both cardiovascular disease and the progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.

scholarly journals LCAT Deficiency in Amerindian Populations: A Systematic Review With the Clinical and Genetic Description of Mexican Kindred

2020 ◽  
Author(s):  
Roopa Mehta ◽  
Daniel Elías-López ◽  
Alexandro J Martagón ◽  
Oscar A Pérez-Méndez ◽  
María L Ordóñez-Sánchez ◽  
...  
Keyword(s):  
Systematic Review ◽  
Novel Mutation ◽  
Genetic Admixture ◽  
Premature Coronary Artery Disease ◽  
Racial Groups ◽  
Premature Coronary Heart Disease ◽  
Age Of Diagnosis ◽  
Artery Disease ◽  
Lcat Deficiency ◽  
Progression Of Renal Disease

Abstract Background: LCAT deficiency is a rare disease, characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). There is little knowledge of LCAT deficiency syndromes in Amerindian populations. We present the results of the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and discuss the case histories of three Mexican-Mestizo probands. Methods: A systematic review was conducted following the PRISMA Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were considered for analysis. Results: In our region, 47 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). In Mexico, one of the FLD probands’ showed a novel mutation; this patient came from an isolated village in the south of Mexico, with little genetic admixture in this region.The systematic review revealed 215 cases of LCAT deficiency (154 FLD, 41 FED and 20 unclassified) in at least 33 ethnic/racial groups (predominantly Caucasian). In addition, at least 138 different mutations in the LCAT gene have been identified. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with FED identified significantly later than FLD (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD (p=0.00). Conclusion: The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. We were unable to confirm any association between ethnicity and LCAT mutation. However, we were able to show a significantly greater risk of premature coronary artery disease in FED compared to FLD. In FLD, the emphasis should be in preventing progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.

scholarly journals LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Roopa Mehta ◽  
Daniel Elías-López ◽  
Alexandro J. Martagón ◽  
Oscar A Pérez-Méndez ◽  
Maria Luisa Ordóñez Sánchez ◽  
...  
Keyword(s):  
Systematic Review ◽  
Latin America ◽  
Meta Analysis ◽  
Cholesterol Acyltransferase ◽  
Eye Disease ◽  
Premature Coronary Artery Disease ◽  
Racial Groups ◽  
Premature Coronary Heart Disease ◽  
Lcat Deficiency ◽  
Fish Eye

Abstract Background LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three Mexican-Mestizo probands. Methods A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were included. Results The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethnic/racial groups. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with fish eye disease identified later than familial LCAT deficiency (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD. In Latin America, 48 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). Of the Mexican probands, one showed a novel LCAT mutation. Conclusions The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. No association was confirmed between ethnicity and LCAT mutation. There was a significantly greater risk of premature coronary artery disease in fish eye disease compared to familial LCAT deficiency. In FLD, the emphasis should be in preventing both cardiovascular disease and the progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.

scholarly journals Risk factors of premature coronary artery disease in Iran: A systematic review and meta‐analysis

2019 ◽  
Vol 49 (7) ◽  
Author(s):  
Hoorak Poorzand ◽  
Konstantinos Tsarouhas ◽  
Seyyed Amin Hozhabrossadati ◽  
Nastaran Khorrampazhouh ◽  
Yones Bondarsahebi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Meta Analysis ◽  
Premature Coronary Artery Disease ◽  
Artery Disease

The role of race in thyroid cancer: systematic review

2017 ◽  
Vol 131 (6) ◽  
pp. 480-486 ◽  
Author(s):  
E Keane ◽  
E C Francis ◽  
É Ó Catháin ◽  
H Rowley
Keyword(s):  
Systematic Review ◽  
Thyroid Cancer ◽  
Racial Groups ◽  
Male Population ◽  
Individual Level ◽  
Black And White ◽  
Conflicting Evidence ◽  
Retrospective Cohort Studies ◽  
Age Of Diagnosis ◽  
White Patients

AbstractBackground:The incidence of thyroid cancer is increasing. There is conflicting evidence as to why. However, studies suggest that it is not an apparent increase resulting from enhanced diagnostic practices, but a true increase with more affected patients. This study aimed to assess racial variation in thyroid cancer.Method:A narrative systematic review of the literature was conducted.Results:Eight retrospective cohort studies were identified, comprising 611 777 adult patients. Variations exist between racial groups, which are also dependent on gender; white patients have a slightly higher male population when compared to their counterparts. Black and white patients have a higher proportion of follicular cancer. Hispanics were younger at the age of diagnosis. Outcomes are greatly affected by socioeconomic status.Conclusion:This study identified many gaps in the way that these types of data are presented. A more concise manner of reporting, with individual-level risk factors, is recommended.

Exercise, Lipids, and Obesity in Adolescents with Parental History of Coronary Disease

1992 ◽  
Vol 6 (6) ◽  
pp. 430-436 ◽  
Author(s):  
Kerry J. Stewart ◽  
Andrew P. Goldberg
Keyword(s):  
Aerobic Fitness ◽  
Medical Center ◽  
Hdl Cholesterol ◽  
Self Report ◽  
Premature Coronary Artery Disease ◽  
Parental History ◽  
Premature Coronary Heart Disease ◽  
Lipoprotein Lipids ◽  
History Of ◽  
Artery Disease

Purpose. The purpose of this study is to determine 1) if adolescents of parents with clinically manifest premature coronary artery disease (CAD) are less physically fit and habitually active, and have less favorable lipid profiles and more obesity than children of nonaffected parents, and 2) if aerobic fitness and activity are related to obesity and lipids in adolescents. Setting. Patients were identified in the Coronary Care Unit or out-patient clinic. Adolescents were evaluated in the cardiovascular laboratories at the Francis Scott Key Medical Center. Design. Comparisons between groups were tested with ANOVA. Univariate and multivariate regression were used to assess relationships among study variables. Subjects. Thirty-six children of affected parents, ages 12 to 19 years, and 29 comparison subjects participated in the study. Measures. Fitness was determined by treadmill testing, fasting blood was analyzed for lipoprotein lipids, habitual physical activity was measured by self-report, and the sum of six skinfolds was used to calculate obesity. Results. Total and LDL cholesterol were higher in girls with a parental history of CAD. The sample size was too small to draw any definitive conclusions about differences based on parental history in lipids or fitness in the boys, or obesity in both genders. Overall, joggers were more fit and less fat than nonjoggers. Girls playing organized sports were more fit and less fat than nonparticipants. Aerobic fitness correlated negatively with obesity in both genders; fitness was independently associated with HDL cholesterol only in the boys. Conclusion. The relationships among parental history of premature coronary heart disease, exercise, lipids, and obesity may be gender-specific.

Abstract 365: Genetic Variants in ALOX5 and ALOX5AP are Associated with Reduced Response to Aspirin in African American Families with Premature Coronary Artery Disease

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
J. E Herrera-Galeano ◽  
Nauder Faraday ◽  
Lisa R Yanek ◽  
Taryn F Moy ◽  
Diane M Becker ◽  
...  
Keyword(s):  
Risk Factors ◽  
Blood Pressure ◽  
African Americans ◽  
Genetic Variants ◽  
African American Families ◽  
Premature Coronary Artery Disease ◽  
Healthy Individuals ◽  
Premature Coronary Heart Disease ◽  
Thromboxane Production ◽  
Artery Disease

Background: ALOX5 (arachidonate 5-lipoxygenase) and ALOX5AP (arachidonate 5-lipoxygenase activating protein) are involved in the production of leukotrienes, which may interact with cyclo-oxygenase to alter the formation of thromboxane. Reduced suppression of thromboxane production by aspirin (ASA) was associated with worse cardiovascular outcomes in the HOPE study. We therefore examined whether genetic variants in ALOX5 or ALOX5AP could modify the effect of ASA on thromboxane production. Methods: We measured urinary 11-dehydro-thromboxane B2 (UTX) levels after 2 weeks of ASA, 81 mg/day, in 1546 healthy individuals from 2-generational families with premature coronary heart disease (CHD) (n=573 African Americans from 120 families; n = 973 whites from 202 families). We genotyped 18 SNPs in ALOX5 and 10 SNPs in ALOX5AP with about 4 kb density. FBAT software was used to determine whether any SNPs were associated with the upper quartile of UTX (the least ASA suppression). The analysis was adjusted for known risk factors such as smoking, high blood pressure, sex, age, obesity, fibrinogen, diabetes and cholesterol. Results: We obtained significant associations between SNPs in both genes and the upper quartile of UTX in African Americans, but not in whites (Table ). The SNPs were not in linkage disequilibrium except for rs7896431 and rs901681 (r 2 =0.80) in African Americans. Conclusion: Both the ALOX5 and ALOX5AP genes have polymorphisms associated in African Americans with less suppression of UTX by ASA. The response to ASA may be affected by an interaction between the leukotriene and thromboxane pathways. Association of SNPs and the upper quartile of UTX

scholarly journals Risk factors for premature coronary artery disease (PCAD) in adults: a systematic review protocol

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 1228
Author(s):  
Adeel Khoja ◽  
Prabha H. Andraweera ◽  
Zohra S. Lassi ◽  
Mingyue Zheng ◽  
Maleesa M. Pathirana ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Data Extraction ◽  
Meta Analysis ◽  
Grey Literature ◽  
Mean Difference ◽  
Premature Coronary Artery Disease ◽  
Registration Number ◽  
Review Protocol ◽  
Artery Disease

PCAD possesses a public health challenge resulting in years of productive life lost and an escalating burden on health systems. Objective of this review is to compare modifiable and non-modifiable risk factors for PCAD compared to those without PCAD. This review will include all comparative observational studies conducted in adults aged >18 years with confirmed diagnosis of PCAD (on angiography) compared to those without PCAD. Databases to be searched include; PubMed, CINAHL, Embase, Web of Science, and grey literature (Google Scholar). All identified studies will be screened for title and abstract and full-text against the inclusion criteria on Covidence software. Data relevant to exposures and outcomes will be extracted from all included studies. All studies selected for data extraction will be critically appraised for methodological quality. Meta-analysis using random-effects model will be performed using Review Manager 5.3. Effect sizes for categorical risk factors will be expressed as odds ratios with 95% confidence intervals. For risk factors measured in continuous form, mean difference (if units are consistent) otherwise standardized mean difference (if units are different across studies) will be reported. Heterogeneity between studies will be assessed using I2 test statistics. GRADE will be used to assess the certainty of the findings. Systematic review registration number: PROSPERO Registration # CRD42020173216

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