Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the findings in a fetus terminated because of multiple abnormalities diagnosed on ultrasound, including asymmetry of the limbs, a hypoplastic diaphragm, unilateral duplex kidney with a double ureter, unilateral cystic kidney, and congenital heart disease including total pulmonary atresia. Cytogenetic studies showed an unbalanced translocation of the long arm of the X chromosome to chromosome 21, resulting in a 46,XY,dic t(X;21)(p11.1;p11.1) karyotype. The cytogenetics were confirmed by non-isotopic in situ hybridisation using probes specific to pericentric alphoid repeats. Parental chromosomes were normal indicating this to be a de novo translocation. It is suggested that the inactivation of the long arm of the X chromosome has resulted in an effective monosomy for chromosome 21.
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PMID:Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1). 164 Apr 34

The mortality experience of firefighters has been an active topic of investigation. Collateral toxicological evidence suggests that certain causes of death are likely to be associated with firefighting: lung cancer, heart disease, and obstructive pulmonary disease. To date there has not been a clear and consistent demonstration of excess risk due to occupational exposure for these outcomes, but certain other cancers, including genitourinary, colon and rectum, and leukemias, lymphomas, and myeloma, appear to be consistently elevated. A major unproven hypothesis is that risk increased following the introduction, in the 1950s of combustible plastic furnishing and building materials known to generate toxic combustion products. Mortality by cause of death was examined for two cohorts totalling 3,328 firefighters active from 1927 to 1987 in Edmonton and Calgary, the two major urban centers in the province of Alberta, Canada, examining associations with cohort (before and after the 1950s) and years of service weighted by exposure opportunity. The study attained 96% follow-up of vital status and over 64,983 person-years of observation, yielding 370 deaths. Mortality from all causes was close to the expected standardized mortality ratio (96; 95% confidence limits (CL) 87, 107) as was that for heart disease (110; 95% CL 92, 131), and neither was statistically significant at the p < 0.05 level (N.S.). Excesses were observed for all malignant neoplasms (127; 95% CL 102, 155, p < 0.05) and for cancer of lung (142; 95% CL 91, 211, N.S.), bladder (315; 95% CL 86, 808, N.S.), kidney and ureter (414; 95% CL 166, 853, p < 0.05), colon and rectum (161; 95% CL 88, 271, N.S.), pancreas (155; 95% CL 50, 362, N.S.) and leukemia, lymphoma, and myeloma (127; 95% CL 61, 233, N.S.); obstructive pulmonary diseases (157; 95% CL 79, 281, N.S.). Fire-related causes showed a marked excess (486; 95% CL 233, 895, p < 0.01), but external causes overall showed a significant deficit (66; 95% CL 49, 87, p < 0.05). The lung cancer excess was confined to Edmonton; there was no consistent association with duration of employment, exposure opportunity, or cohort of entry (before or after the 1950s) except that the highest risk was observed among Edmonton firefighters with over 35 weighted years. The excess of cancers of the urinary tract was observed mostly among firefighters entering service after 1950, appeared to increase with length of service and exposure opportunity, and was observed in both cities. An occupational association with heart disease and chronic pulmonary disease is not supported in this study on this population.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Mortality of urban firefighters in Alberta, 1927-1987. 832 77

Because of their occupational exposure to a variety of toxic agents, fire fighters may be at risk for a number of exposure-related diseases. We reviewed the current literature on disease risk among fire fighters to compare findings and to infer magnitude of risk. A standard mortality ratio (SMR) of 200 is equal to an attributable risk of 100% of expected, sufficient to justify presumption in most workers' compensation systems that accept this. We therefore concentrated on risks that approach or exceed an SMR of 200 or an equivalent risk estimate, bearing in mind that confidence intervals around these estimates are wide. Based on the criteria for presumption of occupational risk, we suggest the following conclusions with respect to general presumption of risk: (1) Lung cancer: There is evidence for an association but not of sufficient magnitude for a general presumption of risk. (2) Cardiovascular. There is no evidence for an increased risk of death overall from heart disease. Sudden death, myocardial infarction, or fatal arrhythmia occurring on or soon after near-maximal stress on the job are likely to be heart related, but such "heart attacks" occurring away from work cannot be presumed to be work related. (3) Aortic aneurysm: The evidence is incomplete for an association, but if an association does exist, it would probably be of a magnitude compatible with a general presumption of risk. (4) Cancers of the genitourinary tract, including kidney, ureter, and bladder: The evidence is strong for both an association and for a general presumption of risk. (5) Cancer of brain: Incomplete evidence strongly suggests a possible association at a magnitude consistent with a general presumption of risk. (6) Cancer of lymphatic and hematopoietic tissue: By group, there is some evidence for both an association and a general presumption or risk. However, the aggregation is medically meaningless. We therefore recommend a case-by-case approach. (7) Cancer of the colon and rectum: There is sufficient evidence to conclude that there is an association but not that there is a general presumption of risk. (8) Acute lung disease: Unusual exposures, such as exposure to the fumes of burning plastics, can cause severe lung toxicity and even permanent disability. This does not appear to result in an increased lifetime risk of dying from chronic lung disease.
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PMID:Occupational mortality among firefighters: assessing the association. 874 40

A 60-year-old man presented with sudden palpitations in September 1993, and was admitted to hospital with a diagnosis of atrial fibrillation and heart failure. The patient was suspected of having collagen disease, because of a positive test for antinuclear antibodies and a high sedimentation rate. He was referred to lou hospital. Chest radiographic findings were suggestive of cardiomegaly and cardiac murmurs were audible, which indicated the presence of heart disease. A chest Ct scan revealed a lesion surrounding the intramediastinal large vessels and the heart from the level of the confluence of the left brachiocephalic vein and the superior vena cava. Suspicion of a mediastinal tumor led the patient to be admitted to the respiratory department. Percutaneous needle biopsy with a Trucut needle revealed non-specific chronic inflammation. An abdominal CT scan showed that the lesion surrounding the descending aorta traversed the diaphragm, reached the renal pelvis along both renal arteries, and caused narrowing of the ureter and left hydronephrosis. Based on these findings, retroperitoneal fibrosis was diagnosed. Treatment with steroids caused the lesion to shrink.
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PMID:[Retroperitoneal fibrosis with involvement up to the mediastinal space]. 877 75

Local renin-angiotensin systems are common throughout the human body. Recent evidence supports the existence of such local renin-angiotensin systems in the penis, clitoris, bladder, ureter, internal anal sphincter, and urethral sphincter. Beyond its role in regulating blood pressure through its effects on vascular tone, sodium balance, and fluid homeostasis, angiotensin II serves a key role in affecting physiologic and pathophysiologic activities of the genitourinary tract. Just as angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are used for the treatment and prevention of heart disease and vascular disease, inhibition of excessive angiotensin II activity may be potentially useful for the treatment of urologic disorders.
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PMID:Local renin-angiotensin systems in the genitourinary tract. 2208 Mar 95