Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344329 (collapse)
 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Venous gangrene of the limb is a rare disease. Peripheral arterial collapse has been shown to underlie the ischaemia. The two patients studied had venous gangrene and malignancy of the gastrointestinal tract with liver metastases. One patient had slowly and the other rapidly progressing gangrene despite heparin-warfarin therapy. Both patients died. Microscopy revealed occlusive thrombosis of small peripheral arteries of the leg. The authors conclude that the pathophysiology in venous gangrene may be occlusive thrombosis of small arteries. This situation is the lethal form of the entity and responds poorly to established therapy.
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PMID:Venous gangrene of the limb. Pathophysiological and therapeutic considerations. 188 17

A 58 year old woman with Cushing's disease was admitted to hospital for acute ischaemia of the lower limbs due to fulminant streptococcal gangrene (necrosing fasciitis). A group A beta-haemolytic Streptococcus was isolated from the cutaneous lesions and the blood cultures. Despite antibiotic therapy and medical resuscitation, the patient died within 12 hours of her admission in a state of irreversible collapse. This gangrenous cellulitis, in which a hypersensitivity reaction plays a part in the pathophysiology, is a rare disease which is fatal in one half of cases. The diagnosis is based on a very marked alteration in the general state, the characteristics of the cutaneous lesions and, most importantly, the isolation of group A haemolytic Streptococci, which should be performed early so as to allow wide surgical excision, which remains the principal therapeutic measure, as rapidly as possible.
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PMID:[Fulminant streptococcal gangrene of the lower limbs]. 390 81

Systemic capillary leak syndrome (SCLS) is a rare disease characterized by episodes of collapse due to rapid transfer of considerable volumes of plasma from the intravascular to the extravascular compartment. The pathogenesis of this disease is unknown. The diagnosis is made largely on clinical grounds, and investigations are unhelpful. The only consistent abnormality is that an IgG paraprotein is found in most patients, raising the possibility that the paraprotein may be involved in the pathogenesis of the disease. Reduction of the paraprotein level in our patient was associated with remission. Blood samples from three SCLS patients and one probable SCLS have been studied. All patients had monoclonal IgG paraproteins. The purified paraproteins were all of IgG1 subclass and had kappa light chains. However, they differed in size and charge. Antibodies against each of the paraproteins were raised in rabbits. Affinity-purified anti-idiotypic antibodies were tested for cross-reactivity against the other paraproteins using immunoblotting and Ouchterlony assay. These assays showed that the anti-idiotypic antibodies reacted only with the immunizing paraprotein and not with any of the other paraproteins, i.e. that the paraproteins do not share a common idiotype. Paraproteins did not bind to cultured endothelial cells, either unactivated or following activation with interferon-gamma (IFN-gamma), IL-2 or IL-6. In addition, we were unable to demonstrate any cytotoxicity towards cultured human endothelial cells by paraprotein alone, or in the presence of neutrophils (pronounced neutrophilia being a feature of attacks). The relationship between the paraproteins and the disease remains unclear. It is likely that additional, as yet unidentified, factors are required for the paraprotein to lead to capillary leak.
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PMID:The paraproteins in systemic capillary leak syndrome. 837 Jan 70

Primary pulmonary melanoma is a very rare disease, with only 19 cases previously reported in the English language literature. These cases suggest that melanoma can arise in the lung as a primary tumor, probably from residual melanoblasts. Primary pulmonary melanoma is frequently endobronchial and often manifests with symptoms of cough, hemoptysis, and lobar collapse. Aggressive surgical resection, irrespective of lymph node involvement, offers possible long-term survival in some patients. The diagnosis of primary pulmonary melanoma necessitates that both clinical and histologic criteria be fulfilled. Herein diagnostic criteria are proposed, and the diagnostic approach is discussed.
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PMID:Primary pulmonary melanoma: case report and literature review. 998 35

Because patients with Swyer-James syndrome have almost always been treated conservatively, few reports exist of pathological findings of the lung in this syndrome. We report a case of this rare disease treated surgically and discuss pathological findings. A 36-year-old woman repeatedly contracted bronchitis and pneumothorax since adolescence, until April 26, 1997, when she reported chest pain and dyspnea. Chest X-ray on admission showed left pulmonary collapse with a slight deviation of the mediastinum toward the right. Chest computed tomography showed an apical bulla and emphysematous change in the left upper lobe. Pulmonary arteriography at age 17 showed hypoplasia of left pulmonary artery branches in the left upper lobe. Based on a diagnosis of Swyer-James syndrome, we conducted left upper lobectomy on May 2, 1997. Pathological examination of the resected left upper lobe showed marked emphysematous change, including an emphysematous bulla with destruction of alveolar structure and peribronchiolar fibrosis. No vascular abnormality was recognized in histology. Emphysematous change secondary to repeated bronchiolitis is believed to have led to her repeated pneumothorax.
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PMID:Surgically treated Swyer-James syndrome. 1175 41

Relapsing polychondritis (RP) is a rare disease characterized by recurrent inflammation of cartilaginous and other proteoglycan-rich tissues. Respiratory tract involvement is a common cause of morbidity and mortality in RP. We describe a patient whose clinical features at onset of disease were typical of asthma. Later, the patient developed symptoms and signs characteristic of RP. Tracheobronchomalacia necessitated airway support by stenting. The possibility that airway obstruction in the initial stages of RP is due to airway inflammation and that early, aggressive immunosuppressive treatment of RP may delay or prevent irreversible cartilaginous destruction and airway collapse are discussed.
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PMID:Relapsing polychondritis: reversible airway obstruction is not always asthma. 1500 14

Relapsing polychondritis (RP) is a rare disease causing inflammation and destruction of cartilage and other connective tissues. Specific laboratory aberrations are lacking. Predominant clinical manifestations include auricular chondritis, polyarthritis, nasal chondritis, ocular inflammation, audiovestibular damage, and respiratory tract chondritis. A relapsing course is characteristic. Airways are involved in 50% of patients and may cause dyspnea, stridor, wheezing, hoarseness, aphonia, and laryneal or tracheal tenderness. Airflow obstruction may result from RP involving the tracheobronchial tree; there is no interstitial or pulmonary vascular component. Collapse or failure of the trachea to dilate during inspiration is a key feature. Fast computed tomographic (CT) scanners can visualize dynamic airway collapse. Randomized, controlled trials of therapy have not been done. Corticosteroids and nonsteroidal anti-inflammatory drugs (NSAIDs) are used most commonly, but optimal regimens and duration of therapy have not been elucidated. Endobronchial stents or tracheostomy may be required for severe stenoses refractory to medical therapy.
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PMID:Relapsing polychondritis. 1608 7

Relapsing polychondritis is a rare disease most commonly presenting as inflammation of the cartilage of the ears and nose. Auricular chondritis, with red ears resembling infectious cellulitis, is the most common initial finding. Antibodies to type II collagen in cartilage are found, and the earlobes are classically spared. Chronic disease may result in a flabby, droopy ear, cauliflower ear, or saddle nose deformity. Acute involvement of the tracheal cartilage may cause collapse of the airway with obstruction and pulmonary infections. Arthritis may be oligoarticular or polyarticular, most often involving the costochondral junctions. Other manifestations include audiovestibular damage; heart valve disease; and neurologic, ocular, and renal disease. Corticosteroids remain the major treatment. Other therapies include nonsteroidal anti-inflammatory drugs, dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine, and infliximab.
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PMID:Relapsing polychondritis. 1711 65

Not long ago, primary tuberculosis was considered a rare disease; now with an increasing incidence worldwide, physicians should relearn many of its basic aspects and manifestations. Pericarditis is a rare finding seen with tuberculosis, but its prognosis is excellent with treatment, so early diagnosis is crucial. Pathogenesis is particularly important, and it must be taken in consideration when interpreting diagnostic tools. Herein we report on a healthy 32-year-old woman who presents with a 1-month history of febrile illness, malaise, and weakness; more recently, she also had resting dyspnea, which was progressively worsening. A positive PPD and an abnormal chest radiograph prompted hospitalization, where she was found to have pulsus paradoxus of 20 mm Hg. The echocardiogram showed diastolic right chamber collapse along with respiratory variation of the mitral inflow, consistent with pericardial tamponade. A pericardiocentesis was performed with resolution of her resting dyspnea; more than 1000 mL of serous fluid drained from the pericardial space over the following 24 hours. Although sputum and pericardial fluid cultures and smear for AFB and other organisms were negative, as well as a negative pericardial fluid PCR for Mycobacterium tuberculosis DNA; an elevated (44.4 U/L [normal, 0 to 18]) adenosine deaminase level in the pericardial fluid was consistent with the probable diagnosis of tuberculous pericardial effusion. The patient was treated with resolution of the clinical syndrome and no recurrence of the effusion thereafter. Adenosine deaminase, an enzyme marker of cell-mediated immune response activity to M tuberculosis that includes activated T-lymphocytes and macrophages, appears in pericardial fluid. The diagnosis of probable tuberculous effusion can be made without demonstration of mycobacterium.
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PMID:Adenosine deaminase in the diagnosis of tuberculous pericardial effusion. 1879 13

Orphan diseases are diseases that are found in less than 200,000 patients in the United States, which is the cutoff point for the number of patients for a drug to be profitable. Because many thousands of orphan diseases exist in the aggregate (about 20 to 30 million Americans have orphan diseases), these patients are disenfranchised from drug development by the pharmaceutical industry. Orphan drugs are a large part of personalized medicine. The orphan diseases are often so rare that a physician may observe only 1 case a year or less. So proper treatment is a personalized encounter between doctor and patient. Academic physician-scientists have tried to fill this therapy vacuum by working on developing orphan drugs. But many disincentives are involved, which include career disincentives, lack of funding, and the multiple areas of expertise that are required. Positive developments include formation of the National Organization for Rare Diseases, the Orphan Drug Act, the development of a grant program to fund orphan drug development, the formation of the National Institutes of Health Office of Rare Diseases, and the passage of orphan drug legislation by other countries. Progress has increased, but the 300 orphan drugs and devices approved in the last 25 years are still only a drop in the bucket compared with the many thousands of orphan diseases. I believe we must do better. I present my own 2 examples of the positive and the negative aspects of orphan drug development, and I end this article by giving recommendations on how we might succeed both in developing more orphan drugs and in rescuing the pharmaceutical industry from its impending economic collapse.
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PMID:Drug development for orphan diseases in the context of personalized medicine. 1993 Nov 98


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