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)

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

Tricuspid regurgitation due to nonpenetrating trauma occurred in a 60-year-old male patient who had received chest trauma in a motorcycle accident. He was admitted because of shortness of breath and palpitation on exertion. On admission physical examinations revealed pulsated and dilated jugular veins, hepatomegaly, and systolic murmur. The chest X-ray film showed an enlarged heart and electrocardiograms revealed complete right bundle branch block. Echocardiography demonstrated systolic prolapse of the tricuspid anterior leaflet into the right atrium. Right atrial v wave pressure was 20 mmHg. Tricuspid valve replacement with a Carpentier-Edwards 33 mm using super interpose method was performed successfully 13 years after the trauma. At operation, it was found that the chordae tendineae of the anterior leaflet was ruptured.
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PMID:[A case of traumatic tricuspid regurgitation]. 259 6

A 32-year-old man with distal skeletal manifestations of Marfan's syndrome had experienced shortness of breath and orthopnea for one month. Physical examination showed the presence of severe aortic regurgitation. Both noninvasive and invasive studies revealed that the aortic regurgitation was induced by previously undescribed peculiar and unusual etiology: diastolic prolapse of a circumferentially dissected tubular intimal flap into the left ventricle. The patient underwent surgical repair with striking clinical improvement.
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PMID:Aortic regurgitation secondary to diastolic prolapse of a tubular intimal flap into the left ventricle in a patient with anuloaortic ectasia. 322 56

To elucidate the clinical features of mitral valve prolapse in apparently healthy young population, two-dimensional echocardiography was performed in the students (18-22 years) without documented organic heart diseases. Focusing on the systolic dislocation and configuration of the anterior mitral leaflet, a following two-dimensional echocardiographic criterion for grading prolapse was used: Grade I: subjects only with slight slip of the tip of the anterior mitral leaflet (AML) toward the left atrium, Grade II: those with considerable slip of the AML but keeping a normal convex shape in the leaflet body toward the left atrium, and Grade III: those with severe slip of the AML with its ballooning toward the left atrium. Among 2016 students examined, 1507 subjects (74.8%) were judged to be normal, 343 (17.0%) to be Grade I, 141 (7.0%) to be Grade II, and 25 (1.2%) to be Grade III. Of the 25 subjects in Grade III, 20 subjects underwent further examination including a questionnaire about the subjective complaints, physical examination, electrocardiograms at rest and during exercise, Doppler echocardiography and postural tests. Concerning the subjective symptoms, eight subjects had some complaints including chest pain, shortness of breath, dizziness, palpitation, fatigability and synocope, and four of the eight had more than three complaints. Mid-systolic click and a late systolic murmur were audible in four and funnel chest was observed in one. No specific findings were found by electrocardiograms. Mild mitral and tricuspid regurgitations were observed by Doppler echocardiography in four and nine subjects, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitral valve prolapse: two-dimensional echocardiographic screening in apparently healthy students]. 326 87

Myasthenia Gravis (MG) is an autoimmune disorder which compromises neuromuscular transmission. The hallmark of the disorder is fatigue with repetitive activity. Patients may experience symptoms ranging from double vision, ptosis and weak voice to choking, shortness of breath, generalized weakness and respiratory failure. The clinical diagnosis is confirmed by identification of a decremental response to repetitive nerve stimulation by electromyography (EMG), the presence of serum antibodies to the muscle acetylcholine receptor (AChR), or an improvement in strength with administration of intravenous edrophonium. With improvements in critical care and immunosuppressive treatments, MG is rarely the grave disease it once was, but because of the odd fatiguing symptoms and relative rarity of the disorder, patients are frequently misdiagnosed and their special needs overlooked. The nature of MG, with its acute and chronic components, creates complex needs for affected individuals and their families. The advanced practice nurse in collaboration with a neurologist in the outpatient setting is positioned to address these needs in an ongoing case management role.
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PMID:Myasthenia gravis: pathophysiology, diagnosis and collaborative care. 749 22

Cricotracheal resection (CTR) is a technique introduced comparatively recently for treating severe laryngotracheal stenosis in children. The recognized complications of CTR include recurrent laryngeal nerve damage, anastomotic dehiscence, and restenosis. We describe a further complication of CTR, namely, prolapse of the arytenoid cartilage. The presentation may be late, with symptoms of shortness of breath on exertion and nocturnal stertor with a poor sleep pattern, or the prolapse may be an asymptomatic incidental finding. The diagnosis is performed with flexible nasopharyngoscopy with the patient unanesthetized, or with rigid endoscopy with the patient lightly anesthetized and spontaneously ventilating. The affected arytenoid cartilage is noted to prolapse anteriorly and medially with inspiration, partly obstructing the airway. If treatment is required, endoscopic laser partial arytenoidectomy is effective. In a series of 44 children who underwent CTR, 20 were noted to develop arytenoid prolapse after operation. Twelve were asymptomatic, and 8 required laser arytenoidectomy, 2 of whom now require continuous positive airway pressure for moderate supraglottic collapse.
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PMID:Arytenoid prolapse as a consequence of cricotracheal resection in children. 1126 63

A 27-year-old female presented with a several-day history of acute onset inspiratory stridor and shortness of breath that worsened with phonation and minimal exertion. Flexible fiberoptic direct laryngoscopy revealed prolapse of the mucosa overlying the arytenoid cartilages bilaterally, consistent with type 1 laryngomalacia. These symptoms persisted with only minimal improvement despite administration of short-term corticosteroids, several weeks of antireflux medications, and other conservative measures. The patient underwent a supraglottoplasty and exhibited a marked improvement in her symptoms. The literature describes several cases of exercise-induced laryngomalacia in both pediatric and adult populations in which symptoms of inspiratory stridor and shortness of breath are induced by exercise but resolve upon its discontinuation. Adult laryngomalacia appears to be a clinical entity distinct from exercise-induced laryngomalacia because symptoms fail to resolve after several weeks of medical therapy and discontinuation of exertional activity. This case suggests that adult laryngomalacia, unlike pediatric and exercise-induced laryngomalacia, is less likely to resolve over time with conservative management and may require surgical intervention with supraglottoplasty necessary to alleviate symptoms.
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PMID:Adult laryngomalacia: an uncommon clinical entity. 1243 Jan 34

A 41-year-old woman with a history of myasthenia gravis was admitted to a local hospital because of severe muscle weakness, ptosis, shortness of breath, nausea and vomiting, and fever. Blood cultures revealed Enterococcus faecium resistant to several antimicrobial agents. The organism had minimum inhibitory concentrations above 16 microg/ml for vancomycin and above 2 microg/ml for quinupristin-dalfopristin. In the absence of therapeutic alternatives, treatment with linezolid was required (minimum inhibitory concentration 1.5 microg/ml). The first dose of linezolid resulted in a hypersensitivity reaction consistent with an immunoglobulin E-mediated response requiring medical intervention. Because of a lack of intravenous access and because of limited availability of the oral suspension from the manufacturer, a desensitization protocol was implemented in which the intravenous formulation of linezolid was given orally. The patient was successfully desensitized by using an escalating, 14-dose procedure. We believe this is the first case in the English language literature to describe successful desensitization with the oral administration of intravenous linezolid in a patient with E. faecium bacteremia who was allergic to oxazolidinone.
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PMID:Intravenous linezolid administered orally: a novel desensitization strategy. 1655 17

Myasthenia gravis (MG) is a chronic, autoimmune disease involving neuromuscular junctions. It is frequently associated with symptoms such as loss of muscle strength, difficulty in respiration and swallowing, diplopia and ptosis. All chronic diseases, including MG, may have psychiatric consequences in terms of coping and adaptation. Psychiatric morbidity usually appears as anxiety disorders, such as panic disorder and generalised anxiety disorder, and as depressive disorders. However, there are very few data on the prevalence and aetiology of such psychiatric symptoms in patients with MG, and those available in the literature are generally from old studies with poor methodology. The interaction between MG and psychiatric disorders needs to be appreciated, especially in the primary care setting, since the symptoms may overlap. MG may be under-recognised initially because the psychiatric symptoms may coincide with those of the actual disease, such as fatigue, lack of energy and shortness of breath. On the other hand, co-morbid psychiatric symptoms that appear during the course of the illness may be misdiagnosed as true myasthenic symptoms; thus, leading to unnecessary drug treatment. Differentiation of the aetiology of these symptoms might alter the treatment choice and, therefore, affect the treatment success rate and patients' well-being. Psychiatric treatments must be carefully planned because of the risk of aggravating the underlying neurological disease. Even though there appears to be an intricate relationship between MG and psychiatric symptoms, there is very limited information on this subject. As such, prospective, randomised, controlled pharmaco/psychotherapy studies are needed to better direct the management of patients and, thus, improve quality of life during the course of the illness.
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PMID:Mood and anxiety disorders in patients with myasthenia gravis: aetiology, diagnosis and treatment. 1752 Dec 27

Cardiac tumors other than myxomas are rare. We report a series of 10 intracavitary polypoid myofibroblastic proliferations in children and young adults emphasizing gross, histologic, and clinical features. There were 6 females and 4 males, with a mean age of 10 years (range 5 wk to 21 y). All lesions were endocardial-based, located in the right atrium (1), right ventricular inflow/tricuspid valve (1), right ventricular outflow (3), mitral valve (3), aortic valve/left coronary sinus (1), and left ventricular free wall (1). Symptoms included shortness of breath or dyspnea (3), syncope (2), chest pain (1), transient ischemic attacks (1), and fever with myalgias (1). All tumors were surgical resections, except 1 tumor that resulted in sudden coronary death and that was diagnosed at autopsy, and 1 tumor that embolized into the coronary artery and was treated by cardiac transplant. Two tumors, present in the aortic and mitral valves, respectively, caused cardiac ischemia. The tumors were polypoid or filiform and histologically resembled inflammatory myofibroblastic tumors of extracardiac sites, with loose spindle cell growth with sparse inflammation. Although there were frequent collagen bundles interspersed among the tumor cells, there were no large areas of dense fibrosis. Surface fibrin was present on the polypoid projections in 7 cases. Symptoms resulted from prolapse into coronary ostia or embolization, but no patient developed metastasis. Long-term follow-up in 2 patients demonstrated no evidence of disease or recurrence. Although metastatic potential was not identified, these tumors may result in serious symptoms, including myocardial infarct, syncope, and sudden death. These cardiac myofibroblastic tumors are readily distinguished from other endocardial-based cardiac tumors, including papillary fibroelastoma and myxoma, which may present clinically in the same manner.
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PMID:Cardiac inflammatory myofibroblastic tumor: a "benign" neoplasm that may result in syncope, myocardial infarction, and sudden death. 1759 79


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