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)

Pectus excavatum was repaired by the sternal eversion (turnover) technique in 26 patients over a 7-year period. Vascular supply to the sternal graft was maintained by preservation of one internal mammary vascular pedicle. Good results were obtained in 21 (81%) patients followed for periods ranging from 2 to 76 months (mean, 32 months) postoperatively. Four patients (15%) had fair results; 2 patients with Marfan's syndrome had partial recurrence, as did 1 patient with skin necrosis and 1 with hypertrophic scar. One patient (4%) had a poor early result due to wound infection and distal sternal necrosis requiring reoperation. Other complications were minor: superficial wound seroma in 2 patients and pneumothorax in 1. The sternal eversion technique for repair of pectus excavatum utilizes the concave shape of the sternum when turned over to create a cosmetically acceptable convex anterior chest wall contour. Judicious tailoring of the costal cartilages and shaping of the anterior sternum corrects asymmetrical deformities. The chest wall is very stable after repair. Since no prosthetic struts or pins are used, a second operation for removal is avoided. Preservation of the vascular supply to the sternum should allow normal growth of the anterior chest wall. The results have been sufficiently encouraging for us to recommend sternal eversion as the primary method for repair of pectus excavatum.
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PMID:Repair of pectus excavatum by sternal eversion. 648 51

Long-term follow-up was obtained for 161 patients who underwent a modified Ravitch repair of pectus excavatum. In all cases, the substernal strut was fashioned from a Dacron vascular graft. Follow-up was done by telephone (most cases) and also by office visit (43 cases). The follow-up period was 12 months to 21.5 years. One hundred thirty-three patients (83%) had satisfactory chest contour; 17 had a fair result, and 11 had frank recurrence. Risk factors for poor contour were an asymmetrical defect, a severe defect, and associated congenital anomalies. Of the three patients with Marfan's syndrome, all had recurrence. One hundred thirty (81%) had a satisfactory scar, and 31 had hypertrophic scars. Risk factors for hypertrophic scar formation were increasing age and weight, and tripod internal fixation used early in the series. Factors not contributing to clinical outcome include the sex of the patient, positive family history, perioperative complications, year of surgery, surgeon, and type of incision. The use of a Dacron strut is relatively easy and complication-free. It can be left permanently in situ. Long-term results have been good, except in patients with an extensive or asymmetrical deformity, and in those with other congenital anomalies, especially Marfan's syndrome.
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PMID:Repair of pectus excavatum using a Dacron vascular graft strut. 780 39

Cattle affected by bovine Marfan's syndrome demonstrate most clinical features of the human disease, which is caused by mutations in the fibrillin-1 gene. Immunohistochemical and metabolic labeling studies in affected cattle have demonstrated abnormalities in fibrillin metabolism. Clinically identified ocular features of the bovine disease, which are similar to human Marfan's syndrome, are ectopia lentis, microspherophakia, and myopia. The purpose of this study was to compare the ocular pathology of the human and bovine diseases and to evaluate fibrillin-1 immunoreactivity in the extracellular matrix of explanted ciliary body cells from affected cattle. Eyes from affected cattle and unrelated normal cattle were examined grossly, and portions of the anterior uvea and ciliary zonule were examined by light and scanning electron microscopy. Portions of the ciliary zonular fibers were examined by transmission electron microscopy. The results were compared between affected animals and normal controls. Explanted ciliary body cells from two affected cattle and one unaffected cow were grown on chambered microscope slides, and expression of fibrillin-1 in the extracellular matrix was compared. Eyes of affected cattle were characterized by megaloglobus, increased circumlental distance, asymmetrical ciliary processes, intact but fragile zonular fibers, and ectopia lentis. Affected animals had moderately hypoplastic ciliary bodies, compact filtration angles, and long thin irises with decreased fibrous stroma. As shown by scanning electron microscopy, the zonular fibers of affected animals were wavy and loosely arranged, with abnormal sites of insertion on the lens capsule. The ciliary processes of affected animals had flattened or smooth surfaces. Explanted ciliary body cells from affected animals demonstrated decreased fibrillin immunoreactivity when compared with a normal control. The ocular pathology observed in bovine Marfan's syndrome is, in most respects, similar to that described for the human disease and will be a useful model for studies of in vivo evaluation of abnormal microfibrillar aggregation within ocular structures.
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PMID:Ocular pathology in bovine Marfan's syndrome with demonstration of altered fibrillin immunoreactivity in explanted ciliary body cells. 868 43

The first conservative surgical procedures of the native aortic valve in annular dilatation were performed by Yacoub and David [1, 2]. These so-called remodelling and inclusion procedures provided hope for a normal life without long-term anticoagulant therapy for patients with Marfan's syndrome, with protection from the complication of an acute dissection of the ascending aorta. The authors reported their experience in the Archives des Maladies du Coeur et des Vaisseaux in 1999, with excellent results [3]. However, a certain number of cases are encountered in which the Yacoub and David procedures cannot be performed because of the presence of a pseudo-bicuspid valve, isolated asymmetrical dilatation of the non-coronary sinus or acute dissection of the aorta without dilatation of the aortic root. In these forms, the authors have developed a technique of remodelling the aortic root with conservation of the native valve by resecting the ascending aorta and non-coronary sinus, rather than carrying out a Bentall procedure. Twenty-nine cases of this type have been treated in this way for three different indications: aneurysm of the ascending aorta with bicuspid aortic valve, aneurysm of the ascending aorta with aortic insufficiency and extension to the posterior sinus, and type A acute dissection of the aorta.
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PMID:[Remodelling the aortic root by resection of the ascending aorta and non-coronary sinus in annular dilatation of the aorta and acute dissection of the descending aorta. 29 observations]. 1261 Oct 36