Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The presence and severity of tardive dyskinesia were determined in 66 patients with chronic psychiatric disorders treated with chlorpromazine. The patients were classified according to the presence of antinuclear antibodies, the lupus anticoagulant, and the HLA antigen Bw44. The severity of orofacial dyskinesia was estimated using the Rockland Research Institute Scale. Patients with autoantibodies and the Bw44 antigen had higher tardive dyskinesia scores than those with AAB without the Bw44 antigen and also patients without autoantibodies regardless of their HLA phenotype (P less than 0.01). These studies suggest that the presence of autoantibodies in association with the HLA Bw44 antigen is related to, and can be a predictor of, neurological complications of long-term chlorpromazine therapy.
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PMID:Immunogenetic markers in chlorpromazine-induced tardive dyskinesia. 309 Jan

The pathophysiology of chorea in systemic lupus erythematosus (SLE) is uncertain. Pathologic examination has not identified a specific location for the causative lesion(s) and immunologic mechanisms have been suggested in its etiology. In other choreic disorders, such as Huntington's disease and benign hereditary chorea, glucose hypometabolism in the striatum has been demonstrated by positron computed tomography (PCT) using [18F]deoxyglucose. With this technique we have studied four patients with chorea secondary to SLE. In these patients the regional distribution of cerebral glucose metabolism was normal. In particular, striatal glucose metabolism was within the normal range, even though the ratio of striatal to cortical glucose metabolism was increased. Our results show that striatal hypometabolism, as seen in other disorders manifesting chorea, is not the PCT correlate of the dyskinesia.
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PMID:Regional cerebral glucose metabolism in SLE chorea: further evidence that striatal hypometabolism is not a correlate of chorea. 350 75

Epidemiological studies have suggested that many rare diseases with respiratory involvement have a genetic component. Molecular advances have increased the understanding of the pathophysiology of these diseases which has led to better diagnostic and prognostic methods. There may be many genes responsible for diseases such as primary ciliary dyskinesia and systemic lupus erythematosus in addition to the effect of modifier genes. The genotype:phenotype correlation in these diseases remains to be elucidated. In some diseases, such as familial dysautonomia and sickle cell, the gene has been identified which allows for accurate pre-natal testing. Further, in diseases where the genetic abnormality is known, such as chronic granulomatous disease, gene therapy remains a realistic prospect and phase I studies are about to commence or currently underway. This article reviews those rare diseases in which there is or is likely to be a significant genetic contribution.
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PMID:Genetic contributions to rare childhood lung diseases. 1205 29

Recently a method to measure nitric oxide (NO) concentration in exhaled air has been developed. The method is non-invasive and easy to perform and it provides information on a fascinating molecule, with such extensive respiratory functions, ranging from bronchial and vascular dilation to ciliary motion and antibacterial defense. Nasal and sinus cavities are the site of major NO production, followed by airway and alveolar compartment. A very low nasal NO production is associated with ciliary dyskinesia, a disease characterized by severe chronic sinusitis and bronchiectasis. An increased concentration of NO in exhaled air has been reported in airway diseases, characterized by airway inflammation, such as bronchial asthma, where its concentration is related to bronchial hyperresponsiveness and sputum eosinophilia. Exhaled NO concentration in asthma is a sensitive marker of airway inflammation that reacts rapidly in response to treatment or exacerbation of disease. Clinical application of exhaled NO measurement include monitoring compliance and response to treatment, disease activity, diagnosis of asthma, and the prediction of acute exacerbations. Exhaled NO concentration may be increased also in other diseases, as COPD, bronchiectasis and some connective tissue diseases (SLE and systemic sclerosis). An increased NO production from alveolar source has been shown to be involved in oxygenation impairment of patients with liver disease, particularly in case of hepato-pulmonary syndrome.
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PMID:[Exhaled nitric oxide as a marker of diseases]. 1649 51

Primary ciliary dyskinesia is characterized by congenital impairment of mucociliary clearance. Kartagener syndrome (KS) is a clinical variant of primary ciliary dyskinesia which is involved in situs inversus associated with chronic respiratory infections. In addition, glomerular disease in KS syndrome is rare and reported cases are limited. We had a 27-year-old female patient with KS who presented with proteinuria, hematuria, normal kidney function, and a family history of systemic lupus erythematosus. Kidney biopsy showed segmental scar with adhesion to Bowman capsule, which was indicative of focal segmental glomerulosclerosis.
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PMID:Kartagener syndrome with focal segmental glomerulosclerosis. 2500 Nov 47

We describe the case of a patient with a long history of undifferentiated connective tissue disease who developed headache, ataxia and orofacial dyskinesia attributed to a diagnosis of systemic lupus erythematosus (SLE). Gross elevation of the concentration of several plasma tumour markers (CEA, CA-125, CA19-9, CA15-3) was detected in the absence of malignancy. These markers fell significantly within a month of starting immunosuppressive therapy alongside clinical improvement. Caution should be taken in the interpretation of plasma tumour markers in patients with connective tissue disease.
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PMID:Diminution of falsely elevated tumour markers following immunosuppression for systemic lupus erythematosus with neurological involvement. 2704 97