disorder

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disorder

[dis′ȯrd·ər]
(crystallography)
Departures from regularity in the occupation of lattice sites in a crystal containing more than one element.
References in periodicals archive ?
Not surprisingly, the patients with patterns of moderate dyslipidaemia had a relatively high prevalence of monogenic disorders.
However, unlike the rapid incorporation of aneuploidy detection into clinical practice, the application to monogenic disorders is far more complex and has many obstacles to overcome.
Several monogenic disorders manifesting the key components of the metabolic syndrome have enabled us to unravel the pathogenic link between the defined molecular defect (or groups of defects) and obesity, early diabetes, or severe insulin resistance, each without the confounding effects of all the other components.
Monogenic disorders are further classified as autosomal dominant, autosomal recessive, sex linked recessive and dominant disorders.
Until relatively recently, much of molecular pathology was geared toward the relatively straightforward exercises of determining if a patient had a distinct mutation or 1 of a panel of mutations in a single target gene (eg, in the case of certain cancers or monogenic disorders), or if a foreign gene was present in a patient specimen (eg, many infectious agents).
Monogenic disorders usually cause severe dyslipidaemia.
However, with the increasing recognition that even simple monogenic disorders often have a multiplicity of other interacting determinants that construct the final phenotype, such as modifier genes and environmental factors, it is apparent that single modality treatment is not the way that many of these conditions will be treated; rather, multiple treatment modalities will be used, sometimes from the time of diagnosis and in many instances there will be sequential use of different treatments as the individual ages and the phenotype morphs.
Drawn from material presented at the Novartis Foundation Symposium entitled "Decoding the Genomic Control of Immune Reactions" held in Canberra in March 2006, this collection covers transcriptional regulatory networks in macrophages, molecular pathways and their role in human disease, specifying the patterns of immune cell migration, human monogenic disorders and their relationship with specific infections, the genetic control of susceptibility to a strain of tuberculosis, disorders resulting from defective LAT signalosomes, smallpox and mousepox, strategies for phenotype detection and subsequent mapping and cloning, genetic control of host-pathogen interactions, systems genetics, and regulation of the immune system.
"The procedure, successfully used in this case, may also be applied to other monogenic disorders and further supports the notion that [preimplantation genetic diagnosis] is destined to be an integral aspect of assisted reproductive technology," they concluded.
The company also intends to expand the study of gene therapy into two additional rare neurological monogenic disorders: Rett syndrome and a genetic form of amyotrophic lateral sclerosis caused by mutations in the superoxide dismutase 1 gene.
The causative genes of some monogenic disorders, such as disseminated superficial actinic porokeratosis,[sup][5] have been found by linkage analysis combined with whole exome sequencing, but we did not find the mutation of these disease-causing genes in some families or sporadic patients, indicating that there may be other causative genes.