Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Involvement of the musculoskeletal system in 50 Lyme borreliosis patients seen in Czechoslovakia is described. Thirty-three patients reported tick bites or that they had removed a tick, four patients had been bitten by some other insect. Skin reaction following tick bite were found in 29 patients. Neurologic involvements have been described in 40 subjects. In one patient complete heart block developed after ECM, so that a permanent pacemaker was necessary for two weeks. Mainly three types of involvement of the musculoskeletal system were observed, mostly as intermittent episodes of arthralgia or migratory musculoskeletal pain. In 37 patients brief attacks of monoarthritis or asymmetrical oligoarthritis were seen, chiefly of intermittent subacute course. Chronic arthritis was diagnosed in seven cases, sacroiliitis in four patients. The authors discuss differential diagnosis, especially in patients with chronic joint involvement.
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PMID:Joint manifestations of Lyme borreliosis in Czechoslovakian patients. 223 60

A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial ray was predominantly affected than the right. All affected cases showed evidence of upper limb involvement. Cardiac defects were seen in 95% of familial cases and included both atrial septal defect (ASD, 34%) and ventricular septal defect (VSD, 25%); 39% had only ECG changes. Cardiac involvement ranged from asymptomatic conduction disturbances to multiple structural defects requiring surgery in infancy. Sudden death could be caused by heart block. Inheritance was autosomal dominant with 100% penetrance and no evidence of reduced fitness. Increasing severity occurred in succeeding generations consistent with anticipation.
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PMID:Holt-Oram syndrome: a clinical genetic study. 873 Feb 85

Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by neuromuscular hypotonia and feeding difficulties was evident shortly after birth in the second child of a mother with systemic lupus erythematosus who had no indication of gestational diabetes. High-level anti-ribonucleoprotein (RNP) and Smoth (Sm) antibodies arising from transplacental transfer of maternal antibodies were detected in the child's serum. The cardiac abnormalities improved with a commensurate decline in antibody titers. Previously reported cases of neonatal cardiomyopathy with endocardial fibroelastosis have been ascribed to the transplacental transfer of maternal Sjogrens Syndrome (SS) A (Ro) and Sjogrens Syndrome (SS) B (La) antibodies and have been more severe and persistent compared with our patient. We advocate close monitoring of all babies of mothers with systemic autoimmunity for changes in heart rate during pregnancy and signs of heart failure and neuromuscular weakness after delivery.
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PMID:Resolution of neonatal hypertrophic cardiomyopathy presumed secondary to acquired maternal ribonucleoprotein and smith autoantibodies. 2414 43