Sentence examples for multiple organ abnormalities from inspiring English sources

Accumulation of HS in lysosomes leads to progressive cerebral and systemic multiple organ abnormalities.

Our results suggest that heterozygous mutation of dOpa1 shows organ-specific pathogenesis and is associated with multiple organ abnormalities in an age-dependent and organ-specific manner.

Sanfilippo syndrome type B (MPS III B) is caused by a deficiency of α-N-acetylglucosaminidase enzyme, leading to accumulation of heparan sulfate within lysosomes and eventual progressive cerebral and systemic multiple organ abnormalities.

All of these suggest that OPA1 mutation could cause multiple organ abnormalities [17] and that analysis of the major organ systems may extend our knowledge of the clinical manifestations of OPA1 mutations.

To study OPA1 function and whether the loss of function is linked to the development of multiple organ abnormalities, we determined if heterozygous dOpa1 mutation affects the function of multiple organs and the underlying mechanisms in Drosophila.

Together, this suggests that OPA1 mutations cause multiple organ abnormalities, including auditory neuropathy, peripheral neuropathy (apoptosis and ophthalmoplegia), cardiomyopathy and myopathy, suggesting that OPA1 could be a common target for treatment of mitochondria-related disorders.

In humans, mutation in the NIPBL gene results in the rare Cornelia de Lange syndrome (CdLS) (Krantz et al. 2004; Tonkin et al. 2004), a dominant autosomal disorder, affecting ~1 10,000 live born children and characterised by multiple organ system abnormalities, typical facial features, growth and mental retardation, upper limb defects and numerous other features (McNairn and Gerton 2008).

Several lines of evidence support the view that endothelial dysfunction is a key factor in promoting coagulation abnormalities, multiple organ failure and mortality in sepsis in humans, as well [ 9, 21].

Previous studies of patients with a prolonged ICU stay have also identified mechanical ventilation [ 6, 45- 47], higher severity of illness [5,45.46,47], and persistent physiological abnormalities (multiple organ dysfunction) [ 6] as risk factors.

Characterized by hypotension, coagulation abnormalities, and multiple organ failure, treatment of sepsis still remains mostly supportive.

SLE disease is characterized by the presence of pathogenic auto-antibodies against a number of nuclear antigens, which results in immunologic abnormalities and multiple organ damage (Piotrowski et al. 2012; Prahalad et al. 2009).