Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myocardial thrombotic microangiopathy is a well described post-mortem finding in patients with the catastrophic antiphospholipid (APL) syndrome. However, it has been only very rarely imaged in living patients. Here, we report two patients with APL antibodies presenting with scintigraphic, electrocardiographic and/or echocardiographic evidence of (sub)acute myocardial ischaemia, despite a normal coronary angiography. Formal proof of a thrombotic microangiopathy was obtained by a kidney biopsy in one patient. We emphasize the value of 99mTc-MIBI (2-methoxy isobutyl isonitrile) exercise stress myocardial scintigraphy for the detection of cardiac microangiopathy associated with the APL syndrome.
Lupus 2001
PMID:Myocardial microangiopathy associated with antiphospholipid antibodies. 1123 24

The objective was to investigate whether spatial variation in poverty, Hispanic ethnicity, and solar radiation explains the strong pattern of geographical clustering of mortality from systemic lupus erythematosus (SLE) in the United States. SLE mortality counts for women and men of black and white race in US counties, 1979-1998, were obtained from the National Center for Health Statistics. County-level poverty rates and proportions of Hispanic residents were drawn from the 1990 national census. The annual cumulative level of ambient ultraviolet 'B' radiation (UVB) was estimated for each county according to latitude, longitude, and elevation. Maps for the full study population and for sex - and race-specific subpopulations showed that the national pattern of geographical variation in SLE mortality primarily reflected the experience of white women. Formal spatial analysis of the data for white women identified 10 statistically significant, multi-county clusters--four with elevated and six with reduced SLE mortality rates. Multivariate regression modeling established that higher levels of poverty, Hispanic ethnicity, and UVB were each associated with elevated local rates of SLE mortality among white women. Statistical adjustment via the regression model was used to remove effects of these factors on local rates. In a re-application of spatial analysis to the adjusted rates, four clusters 'disappeared'. In those clusters, poverty, Hispanic ethnicity and UVB had explained an average of 58.2% of the deviations between local and national SLE mortality rates. In six clusters (including three that disappeared with adjustment), Hispanic ethnicity explained a larger percentage of the deviations between local and national rates than either poverty or UVB. In multivariate models based on data for black women and for men of both races, poverty and UVB had similar effects on SLE mortality rates to those observed among white women. However, Hispanic ethnicity was not a significant predictor of SLE mortality in any of these other groups. The contributions of poverty, Hispanic ethnicity and solar radiation to geographical variation of SLE mortality in the United States are substantial, but these factors do not fully account for the clustering phenomenon.
Lupus 2006
PMID:Geographical clustering of mortality from systemic lupus erythematosus in the United States: contributions of poverty, Hispanic ethnicity and solar radiation. 1712 May 93

Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene. Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy. He has a family history of AGS. General examination revealed mild hypertension, aortic regurgitation, and livedo reticularis. Neurological examination was normal. Investigations: He had mild hyperlipidaemia and persistently-positive lupus anticoagulant consistent with primary anti-phospholipid syndrome. Color Doppler ultrasound revealed low velocity flow in a narrowed extracranial left internal carotid artery (ICA). MR and CT angiography revealed a diffusely narrowed extracranial and intracranial left ICA. Formal cerebral angiography confirmed severe left ICA narrowing consistent with a left ICA "vasculopathy" and moyamoya phenomenon. Transthoracic echocardiogram revealed a bicuspid aortic valve and aortic incompetence. Molecular genetic analysis identified a missense mutation (A211P) in exon 4 of the JAG1 gene, consistent with AGS. Discussion: AGS should be considered in young adults with TIAs/stroke and unexplained extracranial or intracranial vascular abnormalities, and/or moyamoya phenomenon, even in the absence of other typical phenotypic features. Gene panels should include JAG1 gene testing in similar patients.
 ...
PMID:Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome. 3076 Oct 79