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Familial Aggregation of Chronic Obstructive Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Bernice H. Cohen, Gary A. Chase
When many genetic loci are involved (i.e., with multigenic inheritance) the degree of familial aggregation of a disease would vary directly with the coefficient of relationship to the index case, if the various loci follow simple patterns with additive and equal contributions. However, the overall pattern is altered if there is some dominance; and the complexity increases where there are multiple environmental as well as genetic factors. Current genetic analysis is limited in its ability to resolve situations of this degree of complexity. A useful approach, however, is to examine the frequency of the condition in relatives having different degrees of relationship to the index case, and compare the above frequency with a control series in which appropriate adjustments have been made for age, sex, race, age at onset, and other pertinent factors.
Genetic Principles
Published in Gail S. Anderson, Biological Influences on Criminal Behavior, 2019
In codominance both alleles are expressed in the heterozygote. An example is the existence of three separate blood groups in humans—M, N, and MN.4 These groupings are based on two specific molecules that people have on the surface of their blood cells. People of group M have one type of molecule, people of group N have the other type, and people of group MN have both types. M individuals are homozygous for one allele, N individuals are homozygous for the other allele, and MN individuals are heterozygous. The MN is not intermediate, as both alleles are expressed.
Non-viral liver disease
Published in Michael JG Farthing, Anne B Ballinger, Drug Therapy for Gastrointestinal and Liver Diseases, 2019
John ML Christie, Roger WG Chapman
Alpha1 antitrypsin (α1AT) is an enzyme encoded by a gene on the long arm of chromosome 14 that protects tissues from proteases.83 The phenotype is transmitted by autosomal codominance. There are about 75 different α1AT alleles.86 The phenotype protease inhibitor (Pi) MM is present in 95% of the population and is associated with normal serum levels of α1AT. A single nucleotide substitution (glu→lys) leads to Zα1AT protein. PiZZ is prevalent in 1/2000 of the population and is accompanied by severe deficiency of α1AT. PiMZ leads to intermediate deficiency. Deficiency of α1AT in the serum leads to emphysema, while, in contrast, the liver disease relates to the presence of the abnormal Z protein in the liver as opposed to the serum level of α1AT. Liver disease is seen in both patients with PiZZ and PiMZ.
Thirty Years of LGBTQ Pre-Publication Knowledge Production in Higher Education Research: A Critical Summative Content Analysis of ASHE Conference Sessions
Published in Journal of Homosexuality, 2021
Carrie A. Kortegast, Kathryn S. Jaekel, Z. Nicolazzo
Sessions that focused on the intersections of race, gender, and sexuality focused mostly on the experiences of African American/Black gay men. Women and transgender people of color, as well as men of color who are not African American/Black, were overlooked and under-researched. For the majority of sessions, intersections with other identities were either assumed or not explicitly stated in the presentation titles. While we cannot be sure of scholars’ intentions, we wonder about the erasure of understandings of power and privilege as it pertains to shaping identities and experiences. A concern is that when race was not mentioned, this may be another manifestation of colorblindness and, as such, the practice of Whiteness (Bonilla-Silva, 2014). Specifically, 23% of sessions indicated being about people of color. It is unclear, however, if the remaining sessions were focused solely on White individuals. Often, all-White samples are not named as being about White people and Whiteness. As Kincheloe et al. (2011) asserted, research often “unwittingly” (p. 28) serves to reproduce oppressive systems. Thus the not naming of dominance reifies dominance.
Use of omic technologies in early life gastrointestinal health and disease: from bench to bedside
Published in Expert Review of Proteomics, 2021
Lauren C Beck, Claire L Granger, Andrea C Masi, Christopher J Stewart
Stool samples collected from preterm infants have been characterized over the years, with a particular focus on the microbiome composition [62]. A gut microbiome rich in Proteobacteria, low in diversity, and with a delayed colonization by strict anaerobic bacteria including Bifidobacterium spp. has been associated with NEC [13,63–65] and LOS [66–69] in multiple studies. A prevalence of Proteobacteria in the intestine of NEC infants has also been reported by the characterization of formalin-fixed paraffin-embedded tissues, suggesting the direct exposure of this phyla at the mucosal level [70,71]. Despite the association between NEC and Proteobacteria dominance, no causative bacterial genera or species has been consistently associated with the disease [13,65,72]. Enteric bacteria such as Klebsiella spp., Pseudomonas spp., Enterococcus spp., and Escherichia coli are dominant members of the preterm gut microbial community and are also common bacteria causing LOS [67,68]. Previous work has reported these causative microorganisms in blood culture positive LOS as being among the most abundant in the infant gut at time of diagnosis [66]. Indeed, owing to the immaturity of and leakiness of the preterm intestinal epithelium, the gut could represent one site of translocation for the organism causing sepsis.
Addressing clinical safety of antimicrobial resistance: personal perspectives
Published in Expert Review of Anti-infective Therapy, 2019
Petros I Rafailidis, Matthew E Falagas
Humans, as the dominant species on this planet, do not realize on many occasions that they form part of an ecosystem that involves the presence of other organisms, both macroorganisms and microorganisms. This biodiversity has driven many aspects of human history. While the dominance on macroorganisms is undisputed with the extinction of many species and that of many others endangered, extinction or more realistically repetitive victory on microorganisms is most often not possible. The medical and broader scientific community most likely considers the presence of antimicrobial resistance present in microorganisms, an unmet clinical safety need. This is not without reason. The morbidity and mortality, let alone the financial cost [12], that is associated with infections due to MDR, XDR, and PDR bacteria is enormous.