Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The entity of generalized livedo racemose and cerebrovascular bleeding disorders was introduced in 1965 by I. B. Sneddon describing 5 cases. it is not clear what role oral contraceptives and smoking play in the etiology of this syndrome. The case of a 44-year old multipara is described who had taken pills up to 1980 and smoked 5-10 cigarettes a day. In 1980 just before age 35 she suffered an apoplectic insult with hemisyndrome on the left side that she recovered from. An acute hypoglossal, and trigeminal paresis appeared on the left side. Computer tomogram showed a hypodense field in the area of both hemispheres of the brain. An audible mesosystolic click led to the diagnosis of suspecting cerebral embolism with mitral valve prolapse. Therapy was started with thrombocyte aggregation inhibitors. Although the prolapse could not be showed by echocardiography, the frontal mitral valve was slightly thickened. Another hospitalization in 1985 owing to a recurring attack of vertigo revealed higher blood pressure. She received betablocker treatment. In 1987 sudden weakness in the left arm and speech disorders ensued, and skin color alterations were manifest characteristic of generalized racemose livedo. Skin necrosis appeared on both toes. Sneddon syndrome was diagnosed, and full anticoagulation therapy was started with cumarin. The sensomotoric and speech symptoms receded only slightly. In 1988 a light cerebral insult occurred with the deterioration of the speech disorder. Laboratory finding showed immunoglobulin G (IgG) anticardiolipin antibodies (ACA) with 255 U/ml (normal range 0-10 U/ml), and normal IgM anticardiolipin antibodies with 8 U.ml (range of 0-10 U.ml). ACA has been detected in patients with lupus erythematosus and racemose livedo indicating the possible association of Sneddon syndrome with systemic lupus erythematosus.
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PMID:[Sneddon syndrome]. 187 23

In this study, 100 consecutive, surgically excised, mitral valves were examined pathologically. The valves were classified according to primary conditions that resulted in valvular malfunction. Rheumatic mitral valvular diseases (stenosis and/or insufficiency) accounted for 54% of the cases. Myxomatous changes (prolapse) were present in 32 cases. Fifty-nine percent (19 cases) of those cases with myxomatous changes also had chordal rupture. Four of the cases had papillary muscle rupture, and in seven cases, papillary muscle dysfunction occurred. In one case bacterial endocarditis was observed on a previously normal valve. In one case the pathology of valvular. In one case the pathology of valvular changes was indeterminant. Lupus erythematosus was diagnosed in one patient, and mitral valve insufficiency may have resulted as a complication.
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PMID:Pathology of surgically excised mitral valves. One hundred consecutive cases. 383 54

Aortic valve replacement in the child and young adult is often delayed, and multiple operations or invasive procedures are performed to avoid valve replacements. Prosthetic valves, bioprosthetic valves, or allograft valves have been associated with significant complications or early failure and have been a disappointing solution for the patient requiring aortic valve replacement. The pulmonary autograft replacement (PAR) of the aortic valve in children has been shown to be safe and effective with a low incidence of late valve dysfunction. The absence of thromboembolism, the avoidance of anticoagulants, and its viability with the potential for growth and repair strongly support its use for the potential parent, patients of age 35 or less. The experience with 112 patients, 32 females and 80 males, ages 1.5 to 35 years (average 16.1) are reviewed. Twenty-four had aortic insufficiency, 34 had aortic stenosis, and 54 had both aortic stenosis and insufficiency. Actuarial survival was 95.4% +/- 2.0% at 7 years and freedom from reoperation or significant aortic insufficiency of the autograft valve was 92.7% +/- 3.7%. Freedom from all valve related complications of the autograft valve and the homograft replacement of the pulmonary valve was 90.0% +/- 4.0%. Reoperation for the autograft valve was related to limited experience in one, leaflet prolapse and adherence to a VSD patch in one, associated lupus erythematosus in one, and annular and sinotubular dilatation in one. Reoperation of the homograft valve in two patients was secondary to early homograft stenosis, probably due to rejection.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Pulmonary autograft replacement of the aortic valve in the potential parent. 818 67

A 55-year-old woman with a several-decade history of thyroid goiter is presented here as a case of myasthenia gravis complicated with hyperthyroidism and thymoma with serological evidence of systemic lupus erythematous (SLE). She had had right eyelid ptosis since July 1992, with a positive tensilon test. The acetylcholine receptor antibody titer was 4.01 nmol/L. A thyroid function test revealed T3: 162 ngidl, T4: 14.98 micrograms/dl, TSH:0.09 microIU/ml and positive anti-microsomal antibody (1:400). An MRI of the chest showed a thymoma in the left thymus. Other autoantibody screenings include ANA (1:320, speckled pattern) and anti-ds DNA (+) suggesting a serological association with SLE. After three courses of plasmapheresis, she received an extended maximal thymomectomy and a subtotal thyroidectomy. She was then treated with prednisolone, Mestinon, Eltroxin and discharged without complications. The coexistence of myasthenia gravis, hyperthyroidism, thymoma and a serological evidence of SLE have not previously been documented in the literature.
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PMID:Myasthenia gravis complicated with hyperthyroidism, thymoma and serological evidence of systemic lupus erythematosus: a case report. 887 Mar 31

We report a 40-year-old Japanese woman with antiphospholipid antibody syndrome (APS) associated with myasthenia gravis (MG). She had a history of miscarriage at the age of 27 followed by pulmonary embolism 3 weeks later. At the age of 40, she developed diplopia, bilateral ptosis and easy fatigability. Serum anti-acetylcholine receptor antibody and tensilon test were positive. She was diagnosed as having MG. The laboratory test revealed mild thrombocytopenia, prolonged activated partial thromboplastin time (aPTT) and positive findings for both beta 2-glycoprotein I-dependent anticardiolipin antibody and lupus anticoagulant. She fulfilled the diagnostic criteria of APS, but did not the criteria proposed by American Rheumatism Association for SLE. An extended total thymectomy was performed after administration of oral prednisolone and low-dose aspirin. This is a patient who had APS associated with MGs: both are known to result from autoimmune abnormality. The clinical and laboratory manifestations of APS were ameliorated after removal of the thymus, suggesting that thymectomy alleviates APS symptoms.
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PMID:[A case of antiphospholipid syndrome associated with myasthenia gravis]. 939 64

Systemic lupus erythematosus is a disease in which inflammatory process provoked by different antibodies affects many organs and systems. The circulatory system is one of them. In patients with systemic lupus erythematosus cardiac disorders are generally known and well proved. It is known that this disease has heritage background. Thus, the offsprings of patients suffering from systemic lupus erythematosus belong to a risk group. Moreover, it is thought that maternal antibodies crossing transplancentally to the fetus cause damages of tissues including the heart. The aim of this study was to evaluate cardiological status of 38 children whose mothers suffered from systemic lupus erythematosus. In all sick mothers the diagnosis fulfilled criteria of the American Rheumatism Association. The mothers have been remaining under medical treatment while the children have been under control and simultaneously prophylaxis of lupus has been undertaken. The study was undertaken in 17 girls and 21 boys aged 3 to 18 years (average: 12 +/- 4.5 years). Physical development of presented children was satisfactory. During cardiological examination all subjects were in good general condition, without any clinical evidence of collagen disease and infection. Obtained results were compared with the ones found in control group of 38 children of healthy mothers, being at the same age. Study methods were: physical examination, arterial blood pressure measurement, standard and 24 hours according to Holter method ECG record, echocardiographic and Doppler examination, and physical performance test according to Bruce's protocol. In children of sick mothers examined laboratory parameters were within the normal limits excluding the presence of antinuclear antibodies (controlled by indirect immunofluorescence test), result of which was positive in 15 studied children (39%). In the group of the children of sick mothers the abnormalities of sinus node function were detected in 12 cases (32%), significantly more often than in the control. There were found abnormalities of atrio-ventricular and intraventricular conduction in 15 subjects (40%). The premature beats of ventricular origin were noticed in 3 cases (8%). These disturbances were significantly different from the control group. In addition, correlation between the presence of antinuclear antibodies and the cardiac abnormalities was taken into consideration. So, significant correlation between antinuclear antibodies and heart rhythm disorders was proved. During echocardiographic examination structural and functional abnormalities were found. They were: ventricular septal defect (muscular part) (1), pericarditis effusion (1), prolapse of the mitral valve anterior leaflet (2), mitral valve regurgitation of the second degree (2) and increased diameter of left atrium (8). One girl from the studied group, suffering from atrio-ventricular block of III* was operated on because of persistent ductus arteriosus still in the newborn's period. At the same time the permanent pace-maker was implanted. After 1 year of age this girl was operated on because of atrial septal defect (ASD II). In studied group of children echocardiographic global indices of left ventricular systolic function were normal. The subclinical impairment of diastolic left ventricle function was found in 8 children with increased left atrium-aorta index. Both the theoretical knowledge and the results of the studies suggest that the offsprings of mothers suffering from SLE need a careful cardiological observation.
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PMID:[Cardiological state of offsprings of the mothers suffering from systemic lupus erythematosus]. 1105 11

This case report describes a 24-year-old female who presented with sudden onset of painless diplopia and ptosis in her left eye. Examination identified an isolated incomplete pupil-sparing left oculomotor nerve palsy. Magnetic resonance imaging demonstrated focal hyperintensity in the left midbrain with infarction suggested by diffusion-weighted imaging. A diagnosis of primary antiphospholipid syndrome was made with the demonstration of a positive lupus anticoagulant. Other autoimmune markers were present on initial assessment, but did not fulfil diagnostic criteria for systemic lupus erythematosus. Anticoagulation with warfarin was commenced, with gradual resolution of neurological deficits. This case illustrates an unusual initial manifestation of primary antiphospholipid syndrome causing midbrain stroke in a young woman.
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PMID:Isolated fascicular oculomotor nerve palsy as the initial presentation of the antiphospholipid syndrome. 1260 87

Mitral valve prolapse (MVP) has been reported to be associated with systemic lupus erythematosus (SLE). The aim of the present study was to determine the prevalence of MVP in SLE patients, assess its clinical significance and examine the possible association of this entity with other autoimmune indices. Eighty-seven consecutive SLE patients attending the rheumatology clinic and 73 normal control subjects were examined by M-mode, two-dimensional color-Doppler echocardiography. Serum samples were examined for various organ and non-organ specific autoantibodies. MVP was detected in 19/87 patients with SLE and in four of the healthy controls(P = 0.0057). SLE patients with MVP were younger (33.6 +/- 12.4 years) than those without MVP (41. +/- 12.9, P = 0.04) and with shorter duration of the disease (P = 0.03). We found a statistically higher prevalence of anticardiolipin antibodies (aCL) in SLE patients with prolapse (11/19) compared with SLE patients without prolapse (15/68, P = 0.04). This association was independent of age. The aCL-lgG levels were significantly higher in SLE patients with MVP (32.37 +/- 43.26) compared with SLE patients without MVP (22.24 +/- 29.95, P = 0.04). Thyroid autoantibodies tended to be more common in S LE patients with MVP. Th e prevalence of MVP is increased in SLE patients. The presence of aCL and of organ-specific autoantibodies in SLE patients with MVP might indicate the autoimmune origin of MVP. The possibility that SLE patients with MVP may be predisposed to further autoimmune diseases should be considered.
Lupus 2003
PMID:Mitral valve prolapse in systemic lupus erythematosus patients: clinical and immunological aspects. 1272 55

Fatigue is a prominent feature of systemic lupus erythematosus (SLE), usually ascribed to various factors, such as muscle or joint involvement, anaemia or depression. The Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoantibody-mediated disorder of neuro-muscular transmission. We report on a well-defined LEMS associated with thymus hyperplasia in a SLE patient. An African 41 years-old SLE patient presented with persisting fatigue, myalgia and dyspnea, abolished reflexes and a bilateral ptosis. Neuromuscular electrodiagnostic study showed a clear-cut potentiation that was typical of a pre-synaptic neuromuscular junction disease. Anti-calcium gated channels antibodies were disclosed in serum and a diagnosis of LEMS was made. A total body CT-scan revealed an antero-superior mediastinal mass, compatible with thymoma. The tumour was surgically removed with a final diagnosis of follicular thymic hyperplasia. In conclusion, our observation provides a new example of entangled organ-specific and systemic autoimmunity in the context of thymus pathology. Potentiation study during electromyography should be performed systematically to rule out LEMS in patients with SLE and muscle weakness.
Lupus 2011 Jun
PMID:Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. 2142 36

Idiopathic orbital inflammatory syndrome (IOIS) is a nonspecific inflammation of orbital tissue. As it is a diagnosis of exclusion, systemic testing and, at times biopsy, is utilized to rule out other inflammatory etiologies. Since some inflammatory etiologies that masquerade as typical IOIS can be vision or life threatening, it is important to consider these diagnoses. Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune process that can affect the eye and visual system in 20% of individuals. In this idiopathic process, the deposition of pathogenic autoantibodies and immune complexes damage tissues and cells. Some common ocular manifestations of SLE include keratoconjunctivitis sicca, periocular skin lesions, orbital inflammation, retinal hemorrhages and vasculitis, retinal vaso-occlusive disease, iritis, scleritis, optic neuritis and optic neuropathy. One rare clinical entity in the SLE spectrum is panniculitis, also known as lupus erythematosus profundus (LEP), which is a nodular inflammation of adipose tissue. Panniculitis involving orbital structures as the primary presenting symptom of SLE is quite unusual and has only rarely been previously reported in the literature and has not been reported presenting as IOIS. This uncommon presentation can make the diagnosis more difficult. We describe a patient who had presented with ptosis evolving to orbital inflammation, which was consistent with IOIS by laboratory and histologic examinations. The patient later developed extensive panniculitis and a final diagnosis of LEP was made.
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PMID:Lupus erythematosus profundus masquerading as idiopathic orbital inflammatory syndrome. 2255 72


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