For example, the study conducted by Bhangu et al. (2010) [ 11] relied on six variables which could readily be measured, but one variable; severity of disease, is further defined by three more variables including sepsis, peritonitis and ≥ 10 episodes of diarrhoea in 24 hrs.
End-stage symptomatic hA30Pα-syn mice but not their healthy littermates also displayed variable severity of ubiquitin pathology (Figures 4C and 5B).
Diseases that result from mutations of mtDNA do not follow Mendelian inheritance but are instead inherited through the maternal line, and show variable severity of expression reflecting the heteroplasmy of the mtDNA population – in which a mixture of wild type and mutant mtDNA coexist.
Different kinds of G6PD mutations may result in variable severity of clinical onset in G6PD-deficient individuals.
Different time points for obtaining the CC-16 and variable severity of lung injury may be potential explanations for these conflicting findings.
Bipolar disorder (BD) comprises a spectrum of different mood disorders, characterized by variable severity of illness, functional impairment, comorbidity patterns, suicidal risk, cognitive impairment, and treatment response (Akiskal et al. 2000; Alda 2004; Duffy 2014).
Investigations of the pathophysiology of hereditary angioedema included a variety of host factors with roles in bradykinin metabolism and vasomotor activity, explaining the variable severity of the clinical presentation.
The variable Severity of Illness expresses the extent of physiologic decomposition or organ system loss of function and has four subclasses: (1) Minor loss of function, (2) Moderate loss of function, (3) Major loss of function, (4) Extreme loss of function.
As such, LRP1 could conceivably contribute as a genetic modifier to the variable severity of expression of MFS in humans.
Moreover, 18q partial monosomy resulted in variable severity of the phenotype that did not correlate with the size of the deletions.
