Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Profound thrombocytopenia resulting from portal hypertension may exacerbate gastrointestinal bleeding, precipitate spontaneous bleeding, preclude surgical intervention for associated disorders, and severely limit life-style because of the danger of splenic injury. Although splenectomy can reverse the thrombocytopenia, the procedure should be avoided in children. We reviewed our experience with distal splenorenal shunting (DSRS) in children, particularly when performed for the sole purpose of reversing severe thrombocytopenia resulting from portal hypertension. DSRS was performed in 11 children between the ages of 7 and 15 years: five for severe thrombocytopenia (group 1), four for advanced hypersplenism and congenital hepatic fibrosis prior to renal transplantation (group 2), and two for esophageal bleeding (group 3). One child in group 1 with severe heart disease and Child's class C cirrhosis due to hepatitis C died of progressive cardiac failure and was excluded from further analysis. Of the eight remaining patients in groups 1 and 2, four children had congenital hepatic fibrosis, two had portal vein thrombosis, one had hepatitis B, and one had Wilson's disease. After DSRS, the mean platelet count increased from 37,000 +/- 18,000 to 137,600 +/- 81,000 (P = 0.01). The platelet count improved significantly in all seven children with presinusoidal portal hypertension or stable cirrhosis but did not increase in the child with hepatitis B and Child's class B cirrhosis. The white blood cell count increased from an average of 3.3 +/- 1.1 to 5.4 +/- 2.6 (P= 0.02). There were no postoperative complications in this group. The improved platelet count allowed the four children with congenital hepatic fibrosis and renal failure to undergo renal transplantation with full posttransplant immunosuppression including azathioprine. Postoperative Doppler ultrasound examination demonstrated shunt patency at 6 months in all cases. Spleen size decreased appreciably in all children in groups 1 and 2. All children were able to resume full activity including contact sports. In summary, DSRS effectively controls profound thrombocytopenia resulting from presinusoidal portal hypertension or stable cirrhosis without sacrificing the spleen and should be the treatment of choice for this condition.
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PMID:Distal splenorenal shunts for the treatment of severe thrombocytopenia from portal hypertension in children. 1045 41

Hemochromatosis is a recessive disorder of iron metabolism characterized by progressive iron loading of parenchymal organs, which accounts for clinical complications such as cirrhosis, diabetes mellitus, cardiopathy, endocrine dysfunctions and arthropathy. Clinical complications, which usually develop after the third or fourth decade of life, can be fatal but may be prevented by phlebotomy if iron excess is detected at a very early stage. The hemochromatosis gene (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes an HLA class I like protein and two missense mutations, C282Y and H63D in complete disequilibrium have been identified within this gene. Due to its high frequency in the general population, the involvement of H63D in the pathogenesis of the disease remains controversial, and it might correspond to a minor mutation. Conversely, the C282Y mutation is tightly linked to the disease, as it accounts for 80 to 100% of the hemochromatosis cases in Northern Europe. The lower frequency observed, in the patients, in Italy and South of France led to imagine either the implication of other mutations or of other genes. The C282Y mutation is absent in Asia and Africa and is present in the general population with a decreasing gradient of frequency from Northern to Southern Europe. The prevalence of the disease was usually estimated to be 3% but the observed frequency of the C282Y homozygotes is 5% in our breton population raising the question of the penetrance of the disease, and consequently the use of the genotypic test for its systematic screening. As HFE encodes a membrane protein similar to HLA class I protein, its contribution to iron overload is not obvious. The normal protein is predicted to to be expressed at the cell surface in association with beta 2-microglobulin, a localization for which C282Y is critical as it disrupts this association. This protein has also been shown to form a stable complex with the transferrin receptor leading to a decreased affinity for transferrin. A better knowledge of its function will help to decipher iron and different metal-ions metabolism. Although the exact role of the HFE protein is unknown, the genotypic test allows the clinicians to ascertain their diagnosis and genetic counselling.
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PMID:[Molecular genetics of hemochromatosis]. 1052 Apr 11

Genetic hemochromatosis is an autosomal recessive disease, characterized by an increased iron absorption, leading to progressive iron overload. The fully expressed phenotype comprises fatigue, skin pigmentation, liver disease with hepatomegaly, cirrhosis and hepatocellular carcinoma, and diabetes. Arthralgias are frequent, cardiopathy or impotence may occur. This presentation is now unfrequent with earlier diagnosis, and patients are often asymptomatic--with only biochemical expression--or pauci-symptomatic (mild fatigue, arthralgias or increased transaminases). Transferrin saturation is always increased. Serum ferritin is proportional to iron burden. Diagnosis is now easy, since most patients are homozygote for the C282Y mutation of the HFE gene. Liver biopsy can be useful to quantify iron overload and assess liver fibrosis. The disease can be lethal due to liver disease, carcinoma or heart disease, but life expectancy goes to normal if patients are treated before the occurrence of cirrhosis. Treatment relies on regular venesections. Familial screening is essential.
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PMID:[Diagnosis and treatment of genetic hemochromatosis]. 1086 97

Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.
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PMID:Population screening in hereditary hemochromatosis. 1088 46

The overall improvement in the health of Americans over the 20th century is best exemplified by dramatic changes in 2 trends: 1) the age-adjusted death rate declined by about 74%, while 2) life expectancy increased 56%. Leading causes of death shifted from infectious to chronic diseases. In 1900, infectious respiratory diseases accounted for nearly a quarter of all deaths. In 1998, the 10 leading causes of death in the United States were, respectively, heart disease and cancer followed by stroke, chronic obstructive pulmonary disease, accidents (unintentional injuries), pneumonia and influenza, diabetes, suicide, kidney diseases, and chronic liver disease and cirrhosis. Together these leading causes accounted for 84% of all deaths. The size and composition of the American population is fundamentally affected by the fertility rate and the number of births. From the beginning of the century there was a steady decline in the fertility rate to a low point in 1936. The postwar baby boom peaked in 1957, when 123 of every 1000 women aged 15 to 44 years gave birth. Thereafter, fertility rates began a steady decline. Trends in the number of births parallel the trends in the fertility rate. Beginning in 1936 and continuing to 1956, there was precipitous decline in maternal mortality from 582 deaths per 100 000 live births in 1935 to 40 in 1956. Since 1950 the maternal mortality ratio dropped by 90% to 7.1 in 1998. The infant mortality rate has shown an exponential decline during the 20th century. In 1915, approximately 100 white infants per 1000 live births died in the first year of life; the rate for black infants was almost twice as high. In 1998, the infant mortality rate was 7.2 overall, 6.0 for white infants, and 14.3 for black infants. For children older than 1 year of age, the overall decline in mortality during the 20th century has been spectacular. In 1900, >3 in 100 children died between their first and 20th birthday; today, <2 in 1000 die. At the beginning of the 20th century, the leading causes of child mortality were infectious diseases, including diarrheal diseases, diphtheria, measles, pneumonia and influenza, scarlet fever, tuberculosis, typhoid and paratyphoid fevers, and whooping cough. Between 1900 and 1998, the percentage of child deaths attributable to infectious diseases declined from 61.6% to 2%. Accidents accounted for 6.3% of child deaths in 1900, but 43.9% in 1998. Between 1900 and 1998, the death rate from accidents, now usually called unintentional injuries, declined two-thirds, from 47. 5 to 15.9 deaths per 100 000. The child dependency ratio far exceeded the elderly dependency ratio during most of the 20th century, particularly during the first 70 years. The elderly ratio has gained incrementally since then and the large increase expected beginning in 2010 indicates that the difference in the 2 ratios will become considerably less by 2030. The challenge for the 21st century is how to balance the needs of children with the growing demands for a large aging population of elderly persons.
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PMID:Annual summary of vital statistics: trends in the health of Americans during the 20th century. 1109 82

The role of the cardiac catheterization for diagnosis and treatment of pulmonary hypertension (PH) is very important. When mean pulmonary artery pressure increased more than 25 mmHg, then PH is defined. But this is measured accurately only by the catheterization. And we can discriminate the etiology of PH clearly by pulmonary capillary wedge pressure (Ppcw) or intra-cardiac shunt (L to R) by blood oxygen saturation step-up, and both parameters are obtained by this method. The etiology of PH is diagnosed as left sided heart failure, if Ppcw is increased more than 13 mmHg. PH is produced by congenital heart disease (ASD, VSD, PDA etc.), when the oxygen saturation step-up is recognized. And PH is induced by any pulmonary disease or pulmonary thrombo-embolism or collagen disease or liver cirrhosis or PPH, if Ppcw is normal and no oxygen step-up is recognized.
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PMID:[The role of cardiac catheterization for diagnosis and treatment of pulmonary hypertension]. 1141 Nov 19

The updated cohort consisted of 3328 workers who were employed at the Mobil (now ExxonMobil) Torrance, California, refinery for at least 1 year between 1959 and 1997. The vital status of the cohort was determined through a variety of sources, including company employment or retirement records, the Social Security Administration's Death Master File, and the National Death Index. The updated study covered an observation period of 38 years from 1960 to 1997, with a total of 60,612 person-years of observation. A total of 705 (21.2%) cohort members were identified as having died. Mortality data were analyzed in terms of cause-specific standardized mortality ratios (SMRs) and 95% confidence intervals (95% CIs), with expected deaths based on US national cause-, gender-, race-, year-, and age-specific mortality rates. The overall mortality of the cohort was significantly lower than expected when compared with the US general population (SMR, 81.9; 95% CI, 76.0 to 88.2). Overall cancer mortality was also lower than expected (SMR, 79.8; 95% CI, 67.9 to 93.1). For specific cancer sites, significant mortality deficits were observed for cancer of the digestive system (SMR, 70.9; 95% CI, 49.4 to 98.6) and cancer of the respiratory system (SMR, 74.1; 95% CI, 55.5 to 97.0). No significant increase was reported for any site-specific cancer. For nonmalignant diseases, no significant increase was observed for any cause. In particular, significant mortality deficits were reported for ischemic heart disease (SMR, 87.7; 95% CI, 77.2 to 99.3), chronic endocardial disease and other myocardial insufficiencies (SMR, 8.3; 95% CI, 0.2 to 46.0), all other heart disease (SMR, 64.2; 95% CI, 43.0 to 92.2), and influenza and pneumonia (SMR, 59.2; 95% CI, 33.1 to 97.6). Detailed analysis by length of employment did not reveal any significant mortality excess or upward trend. Analyses of male employees by job classification (process and maintenance) were conducted. Among maintenance workers, mortality from cirrhosis of the liver (SMR, 190.1; 95% CI, 101.2 to 325.1) and suicide (SMR, 208.6; 95% CI, 111.1 to 356.7) were significantly elevated. However, these mortality excesses did not seem to be related to employment at the refinery. No other causes of death showed significant increase among maintenance workers. A similar separate analysis was conducted for process workers, and no significant excess was detected for any cause. The findings from the present study are discussed in conjunction with results from previous investigations of employees at the Torrance refinery and with results from other refinery studies. Potential limitations of the study are also discussed.
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PMID:Updated mortality study of workers at a petroleum refinery in Torrance, California, 1959 to 1997. 1176 80

The social and demographic characteristics of approximately 65,000 Tibetan refugees in India were determined from data collected 1994-1996. Approximately 55,000 refugees were living in 37 settlements widely distributed around India. The remaining 10,000 refugees were monks living in monasteries associated with some of the settlements, mostly in the south of India. In the settlements, a community-based surveillance system was established and data were collected by trained community health workers in house to house visits. In the monasteries, data were collected by the community health workers in monthly interviews with a designated liaison monk at each monastery. These data indicated little immigration of new civilian refugees in the past 10 years into the settlements but a steady influx of new monks into the monasteries. The age distribution in the settlements showed a prominent mode in the 15-25 year age range, a declining birth rate, and an increasing proportion of elderly. In general, refugees born in India were educated through secondary school, while refugees born in Tibet were often illiterate. The principle occupations were education involving 27% (including students), farming, 16%. and sweater selling, 6.5%; another 6.5% were too young or too old for employment, and only 2.4% were unemployed. The overall crude birth rate was determined to be relatively low at 16.8/1000. although this may underestimate the true figure. Infant mortality varied from 20 to 35/1000 live births in the different regions. Child vaccination programs cover less than 50% of the population. The burden of illness in this society was mainly characterized by diarrhoea. skin infections, respiratory infections, fevers, and, among the elderly. joint pains and cardiovascular problems. Although calculated death rates were unrealistically low, due to under-reporting, causes of death, derived from "verbal autopsies", were mainly cancer, tuberculosis, accidents, cirrhosis and heart disease in order of decreasing frequency. Overall, the sociodemographic and health characteristics of this population appear to be in transition from those typical of the least developed countries to those typical of middle income and more affluent societies.
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PMID:A social and demographic study of Tibetan refugees in India. 1182 17

Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive disorder which causes iron overload at a young age, affects both sexes equally and is characterized by a prevalence of hypogonadism and cardiopathy. Patients with haemochromatosis type 2 have been reported in different ethnic groups. Linkage to chromosome 1q has been established recently, but the gene remains unknown. We report the analysis of the phenotype of 29 patients from 20 families of different ethnic origin with a juvenile 1q-associated disease. We also compared the clinical expression of 26 juvenile haemochromatosis patients with that of 93 C282Y homozygous males and of 11 subjects with haemochromatosis type 3. Patients with haemochromatosis type 2 were statistically younger at presentation and had a more severe iron burden than C282Y homozygotes and haemochromatosis type 3 patients. They were more frequently affected by cardiopathy, hypogonadism and reduced glucose tolerance. In contrast cirrhosis was not statistically different among the three groups. These data suggest that the rapid iron accumulation in haemochromatosis type 2 causes preferential tissue damage. Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes.
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PMID:Natural history of juvenile haemochromatosis. 1206 Jan 40

Three significant recent trends in Mexican mortality are the decline in deaths due to large groups of causes, the increasing proportion of deaths due to nontransmissible causes, and the convergence of state mortality rates. The World Bank has proposed a classification of causes of death into three large groups according to the type of intervention required to reduce them: transmissible, maternal, and perinatal; nontransmissible; and accidents and injuries. The first group concentrates disorders susceptible to reduction with low cost and highly effective interventions such as vaccines and sanitary measures, generally available at the primary level of care. The nontransmissible disorders include chronic degenerative diseases requiring more expensive and prolonged treatment corresponding to the second and third levels of care and implying lifestyle changes. Injuries and accidents are potentially preventable through specific programs of the health system. The proportion of Mexican deaths due to nontransmissible causes increased from 53.4% in 1979 to 67.8% in 1992. Five of the ten main causes of death are nontransmissible: heart disease, malignant tumors, cerebrovascular diseases, cirrhosis, and diabetes mellitus. The increased proportion of deaths due to nontransmissible diseases is a consequence of the rapid decline in deaths from transmissible causes. Deaths due to transmissible causes declined by 47.5% between 1979 and 1992. Increased educational levels, potable water and sewage services, increased vaccination coverage and similar interventions contributed to mortality decline in the least developed regions. The greatest mortality gains were in the areas with the highest initial rates, which helped to homogenize state mortality rates. Among transmissible diseases, diarrhea and pneumonia and influenza dropped from first and second to tenth and eighth place, respectively. In 1992, only Chiapas and Oaxaca maintained mortality rates significantly higher than the rest of the country. The current trend in mortality rates by cause and population aging will increase future demands for health care for nontransmissible diseases. Modifications will be required in the Mexican health system.
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PMID:[Mortality by cause. The trends demand changes in the health system]. 1215 57


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