Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 29-year-old female, with chronic renal failure and chronic bilateral emphysema, was admitted with severe uremia and septicemia secondary to multiple abscesses in the right kidney. Her condition improved after right nephrectomy. Pulmonary function studies showed marked obstructive and restrictive lung disease consistent witht the diagnosis of primary emphysema. On biochemical and histological examination, the liver was found to be normal. Alpha1-antitrypsin could not be demonstrated in the patient's serum at normal pH by any of the known techniques, but protein molecules with alpha1-antitrypsin antigencity were found at pH 4.8; this suggests a pH-dependent structural difference in alpha1-antitrypsin protein. Starch gel electrophoresis gave a multibanding pattern not previously described. A new form of apparent total alpha-1-antitrypsin deficiency is postulated.
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PMID:Apparent total alpha1-antitrypsin deficiency: report of a case. 97 22

During the final phases of chronic renal disease, inpatient care comprises an enormous share of morbidity and direct medical costs. Using an attributable risk methodology, this study calculated inpatient resource utilization and associated costs for chronic renal failure (CRF) and ESRD. A national hospital survey was used to identify the 348,962 hospitalizations for patients with renal failure in 1991. Among persons under the age of 65, pre-ESRD CRF patients had the same number of hospitalizations (nearly 75,000) as ESRD patients. Age-adjusted relative risk calculations indicate that patients with renal failure experience greater inpatient morbidity compared with other populations with chronic, progressive diseases. For example, compared with persons with diabetes, ischemic heart disease, hypertension, and emphysema, renal patients were at significantly higher risk of hospitalization for congestive heart failure, pneumonia, sepsis, electrolyte disorders, and gastrointestinal hemorrhage. Overall, renal failure patients were ten times more likely to be hospitalized (relative risk, 10.0; 95% confidence interval, 10.00 to 10.04) and, on average, were hospitalized nearly 1 day longer (P < 0.01) compared with the non-renal failure population in 1991. As a result, the economic consequences of inpatient care for the treatment of renal failure were enormous. In 1991, 222,827 hospitalizations, 1.5 million days of inpatient care, and $2.2 billion were attributable to renal failure. Further studies that examine other components of direct medical costs (e.g., long-term care, outpatient care, and pharmaceuticals) as well as indirect costs associated with the treatment and care of renal failure patients are warranted.
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PMID:Relative risk and economic consequences of inpatient care among patients with renal failure. 873 11

Here we report the utility of a molecular epidemiologic approach for common, polygenic diseases. Since 1992, the angiotensin I-converting enzyme (ACE) deletion/deletion (D/D) genotype has been linked to several cardiovascular diseases, including diabetic nephropathy. Earlier, the ACE D/D genotype had been associated with excess tissue ACE activity. We have observed an association of the ACE D/D genotype with a large number of common diseases, including chronic renal failure due to non-insulin-dependent diabetes mellitus or hypertension, hypertensive peripheral vascular disease, and emphysema [chronic obstructive pulmonary disease (COPD)]. ACE inhibitors have been in clinical use since 1977 and have a well-known safety record. Armed with the knowledge that ACE overactivity was associated with their disease, we gave what was intended to be a tissue ACE-inhibitory dose of a hydrophobic ACE inhibitor to 800 Caucasian and African-American male patients with hypertension and 200 Caucasian and African-American male patients with chronic renal failure, over a period of 3 years. We here report their outcomes, which include those of two patients with end-stage hypertensive peripheral vascular disease and one patient with end-stage emphysema (COPD). As a group, the outcomes are superior to what is available in the literature. This experience suggests the power of pharmacogenomics to improve clinical outcomes for common diseases safely, quickly, and inexpensively, if effective drugs already exist.
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PMID:From pharmacogenomics to improved patient outcomes: angiotensin I-converting enzyme as an example. 1239 47

We present a case report of the anaesthetic management of a 77-year-old man requiring endovascular thoracic stent graft repair. The patient had a history of poorly controlled type II diabetes mellitus and chronic renal failure. Chest X-ray and CT scan showed a right pleural effusion, generalized emphysema and an enlarged thyroid extending into the upper mediastinum, compromising the tracheal lumen. Endovascular stent graft repair was successfully performed under epidural anaesthesia and intravenous sedation.
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PMID:Epidural anaesthesia for endovascular stent graft repair of a ruptured thoracic aneurysm. 1297 71

We present the case of a 70-year-old woman with necrotizing fasciitis of the right leg, sepsis and bacteraemia with Escherichia coli. Chest wall emphysema, detected on standard radiograph and the presence of air in the soft-tissue of the foot was the reason for prompt surgical drainage in addition to standard fluid resuscitation and antibiotic therapy. There was no evidence of underlying diabetes mellitus, but unknown chronic renal failure and corticosteroid therapy for rheumatoid arthritis were considered predisposing factors. We present a short overview of this rare life-threatening condition with emphasis on radiological diagnostic modalities.
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PMID:Necrotizing fasciitis of the leg presenting with chest wall emphysema. 1516 94

Aging is associated with a reduced capability of the immune system to adequately respond to pathogens and to prevent tumor formation. As a consequence of immunosenescence, older people have a higher risk to develop infections as well as cancer. In addition, cancer itself may expose old patients to infections, including opportunistic infections, i.e. Pseudomonas aeruginosa, Aspergillus fumigatus and Cytomegalovirus infection. Patients with hematologic malignancies have a higher risk than patients with solid tumors, because of more prolonged disease-related and treatment-related neutropenia and intensive immunosuppressive regimens. Co-existing medical conditions, e.g. chronic renal failure, diabetes mellitus, emphysema, which are quite common in the elderly, may also contribute to rising the infectious risk, as well as the use of long term vascular catheters, which is required in a large number of cancer patients to administrate chemotherapy. Neutropenic infections do not only represent a major cause of morbidity and mortality, but may be responsible for a reduction of the antineoplastic treatment dose and dose intensity, thus compromising the overall treatment effectiveness. The use of antibiotic prophylaxis to reduce neutropenia-related infectious complications in patients with cancer is still object to debate. Quinolones represent the most attractive option, since these drugs have a broad antimicrobial spectrum, systemic bactericidal activity, good tolerability and lack of myelosuppression. However, fluoroquinolone prophylaxis has already been associated with the emergence and spread of resistant bacteria and strictly precludes the subsequent use of fluoroquinolones for initial empirical therapy; in addition, fluoroquinolones should be administered with caution among elderly patients, especially those with more pronounced vascular or degenerative impairment of the central nervous system, cardiac disease or electrolyte disturbances.
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PMID:The complexity of aging: cancer risk among elderly people and infectious risk among those with cancer. 2410 81

A 61 year-old man with a history of hypertension, type2 diabetes, chronic renal failure, tuberculosis and peripheral arterial disease presented with gangrene in the right leg. A right supracondylar amputation was performed, despite which the patient continued with a high fever, oliguria and hypotension (90/50). Laboratory work-up showed neutrophilic leukocytosis and metabolic acidosis. CT revealed pneumoperitoneum, emphysema and thickening of the gastric wall. Changing the CT window we can appreciate air dissecting the layers of the gastric wall. This clinical-radiological picture is consistent with emphysematous infectious gastritis, complicated with septic shock and the death of the patient despite treatment. The final histopathology reported gastric necrosis caused by mucormycosis affecting the entire thickness of the gastric wall and embolizing vessels.
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PMID:A rare cause of emphysematous infectious gastritis. 2848 Jul 21

A 28-year-old male patient who was a nonsmoker presented with bilateral symmetrical polyarthritis and polyarthralgia, suggestive of rheumatoid arthritis (RA), along with shortness of breath, fever and cough, suggestive of chronic renal failure and nephrotic range proteinuria. The chest radiograph was suggestive of panacinar emphysematous changes with bilateral central bronchiectasis. The patient reported that two of his brothers had died in their third decade because of renal failure. Renal biopsy showed focal and segmental glomerulosclerosis (FSGS). FSGS with panacinar emphysema and bronchiectasis is a rare entity in RA patients, and considering the possibilities of a familial pattern of FSGS, transient receptor potential cation channel 6 channelopathy was the most valid diagnosis.
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PMID:Bronchiectasis and Focal Segmental Glomerulosclerosis in Rheumatoid Arthritis. 3078 1