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Victor McKusick (1921–2008)—Father of Medical Genetics
Published in Krishna Dronamraju, A Century of Geneticists, 2018
Inbreeding causes a build-up of “bad genes” in populations: Inbreeding does not directly change the gene frequencies. It does change genotype frequency; it increases the frequency of homozygotes. If the homozygote is at a disadvantage, inbreeding actually results in a decrease in the deleterious genes.
A Diagnostic Approach to Pneumocystis jiroveci Pneumonia
Published in Johan A. Maertens, Kieren A. Marr, Diagnosis of Fungal Infections, 2007
Abigail Orenstein, Henry Masur
Human disease has been attributed to reactivation of latent disease acquired in childhood. There is a growing body of evidence to suggest that re-infection also takes place. Multiple reports in the literature describe patients with recurrent episodes of PCP who were found to have strains that were genotypically different from prior episodes (22–26). Genotype frequency distribution patterns have been shown to vary with place of diagnosis, not birth (27). Individuals with newly diagnosed HIV have been found to have mutant strains associated with prior use of PCP prophylaxis, despite never having received prophylaxis (28–30). Studies are ongoing to determine the relative importance of latency versus re-infection in human Pneumocystis infection.
Association of PAI-1 4G/5G and ACE I/D Polymorphisms with Susceptibility to Pediatric Sepsis: Evidence from a Meta-Analysis
Published in Fetal and Pediatric Pathology, 2022
Mohammad Hosein Jarahzadeh, Mohammadali Jafari, Neda Seifi-Shalamzari, Farzad Ferdosian, Reza Bahrami, Ali Raee-Ezzabadi, Zahra Nafei, Ahmad Shajari, Seyed Reza Mirjalili, Hossein Neamatzadeh
Studies satisfying the following criteria were included for review: 1) observational studies (case-control or cohort studies) on humans; 2) published studies on the association of PAI-1 4G/5G and ACE I/D polymorphisms with susceptibility to pediatric sepsis; 3) sepsis diagnosed on the basis of clinical examination and confirmed during the surgeries; 4) Each genotype distribution and individual numbers in the case and control groups should be provided or can be calculated for each genotype given or the number needed can be calculated by the frequency of each genotype given; 5) studies that were required to provide available data to calculate the odds ratio (OR) and the corresponding 95% confidence interval (95% CI). Correspondingly, studies were excluded if they met with the following characteristics: 1) not a case-control or cohort study; 2) studies did not evaluate the association of ACE or PAI-1 polymorphism with risk of pediatric sepsis; 3) the data of genotype frequency and allele frequency in the literature are incomplete or unclear; 4) studies on other PAI-1 and ACE gene polymorphisms; 5) case reports, posters, presentations, meeting abstracts, editorial articles, case series, comments, conference, review articles, and meta-analyses; and 6) duplicates or overlapping studies. If potentially eligible studies reported overlapped data or authors published two or more studies using the same data, the most comprehensive one was included in the meta-analysis.
Lower vitamin D levels and VDR FokI variants are associated with susceptibility to sepsis: a hospital-based case-control study
Published in Biomarkers, 2022
Xinyue Yang, Jin Ru, Zhengchao Li, Xingpeng Jiang, Chuming Fan
All statistical analysis was performed by GraphPad Prism version 9.0 (GraphPad Sofware, Inc, La Jolla, CA, USA). 25(OH) vitamin D levels in patients and healthy controls or severe sepsis and septic shock were compared by Student’s t-test or Mann–Whitney test as appropriate. A probability value less than 0.05 was considered statistically significant. Allele and genotype frequency in healthy controls and patients were evaluated by manual counting. The distribution of genotypes in the population was tested for hardy Weinberg equilibrium by an in-house developed Microsoft excel sheet. The chi-square test assessed the allele and genotype distribution among healthy controls and sepsis patients or severe sepsis and septic shock. The P-value was corrected for four SNPs, and a Bonferroni corrected P value < 0.01 (0.05/4) was taken as statistically significant for all genotype and allele analyses (Bonferroni 1936).
Methylenetetrahydrofolate reductase gene polymorphisms are not associated with embryo chromosomal abnormalities and IVF outcomes
Published in Systems Biology in Reproductive Medicine, 2021
Ruth Morales, Belén Lledó, José A. Ortiz, Alba Cascales, Helena Codina, Adoración Rodríguez-Arnedo, Joaquin Llácer, Andrea Bernabeu, Rafael Bernabeu
Statistical analysis was performed with Statistical Package for Social Sciences software, version 20.0 (SPSS; Chicago, IL, USA). For continuous variables, descriptive analysis was done using the mean and standard deviation. Univariate analysis to study the differences between the different genotypes with respect to continuous variables (biochemical and stimulation variables) was carried out by analyzing variance ANOVA. We determined the differences between groups using Fisher’s exact test (two-sided) for genotype frequency. The embryo aneuploidy and mosaicism rates, with regard to different patient and embryo MTHFR genotypes, were compared with a multivariate analysis, through a binary logistic regression statistical test, using as confounding variables: maternal age, PGT-A technique and embryo quality. In the case of IVF outcomes in euploid embryos, pregnancy rate, implantation rate, biochemical and miscarriage rate, and ongoing pregnancy rate, were compared among different embryo MTHFR genotypes, employing a logistic regression statistical test and using as confounding factors embryo quality and oocyte origin. In all analysis, statistical significance was defined as p < 0.05.