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

The longevity of people with Down syndrome being served by the California Department of Developmental Services was examined in terms of a number of variables known to be related to early mortality. The findings indicated that the predictors of survival for people with Down syndrome were not different from the variables related to mortality among people with mental retardation in general. A lack of mobility or feeding skills were better predictors of an early death than were medical problems associated with congenital heart disease. Life expectancy estimates of clients with Down syndrome who lacked mobility or eating skills were found to be poor as compared to individuals who had Down syndrome but did not have these problems regardless of the presence of heart disease.
 ...
PMID:Life expectancy of persons with Down syndrome. 182 73

The effect of recombinant human growth hormone on children with Down syndrome who had growth retardation and microcephaly was examined. Thirteen children with trisomy 21 without congenital heart disease who were short for age (-1.19 to -3.5 standard deviation score) and microcephalic (-1.58 to -6.60 standard deviation score) were given recombinant human growth hormone, 0.1 mg/kg subcutaneously, 3 days a week for 1 year. Before treatment, peak serum growth hormone concentrations were less than 10 micrograms/L after levodopa and clonidine stimulation tests in five patients, after clonidine in three patients, and after levodopa in three patients. Three patients had nocturnal integrated growth hormone concentrations of 0.5, 1.5 and 0.65 micrograms/L, respectively. The mean growth rate before treatment was 5.4 +/- 1.6 cm/yr and increased to 12.2 +/- 3.2 cm/yr (p less than 0.001) after 12 months of recombinant human growth hormone treatment. The mean head circumference standard deviation score before treatment was -3.1 +/- 1.3 and increased to -2.3 +/- 1.2 (p less than 0.001) at 12 months. Bone age before and 1 year after treatment increased in correspondence with chronologic age. Plasma hemoglobin A1c concentration was normal during treatment with recombinant human growth hormone. The mean plasma concentrations of insulin-like growth factor I at baseline and at 12 months were 0.54 +/- 0.19 U/ml and 1.25 +/- 0.97 U/ml, respectively (p less than 0.02). We conclude that recombinant human growth hormone therapy can result in a significant increase in annual growth rate and head circumference in children with Down syndrome, without significant side effects.
 ...
PMID:Treatment of children with Down syndrome and growth retardation with recombinant human growth hormone. 153 64

Archibald Garrod was apparently the first to document congenital heart disease as a component of Down syndrome. This arose from his interest in fetal endocarditis, a theoretical cause of cardiac malformations, in vogue roughly from 1840-1940, that drew its strength from analogies with rheumatic heart disease in adults. Garrod's discovery sheds light not only on nineteenth century ideas about teratology, but also on his methodology, genius, and approaches that, in many ways, foreshadowed the techniques that guided his later work on inborn errors.
 ...
PMID:Sir A. E. Garrod, congenital heart disease in Down syndrome, and the doctrine of fetal endocarditis. 183 62

The incidence of small subpleural lung cysts was analyzed for autopsies of 98 patients with Down syndrome (DS): 9 fetuses or stillborns and 89 liveborns. Such cysts were not seen in any of the fetuses or stillborn infants; they were identified in 18 (20%) liveborn DS patients but were present in only 1 of 11 DS patients who survived less than 4 weeks. Such cysts were not found in lungs of 61 non-Down patients with ostium atrioventricular commune (AVC), the most frequent congenital cardiac lesion of DS, or in those of 60 non-DS patients with bronchopulmonary dysplasia. Although subpleural lung cysts were more frequent in DS patients with than in those without congenital heart disease, the difference in incidence of such cysts between 25 liveborn DS patients with AVC and 61 non-DS patients with AVC was highly significant (chi 2 - 19.46, P less than .001). The data suggest that the lung cysts in DS are an intrinsic, albeit not invariant, feature of the disease and not necessarily secondary to congenital heart disease or sequelae thereof. We suggest that they may result from reduced postnatal production of peripheral small air passages and alveoli, which in turn may reflect the slow rate of cell proliferation that appears to be a general feature of DS.
 ...
PMID:Postnatal development of the cystic lung lesion of Down syndrome: suggestion that the cause is reduced formation of peripheral air spaces. 183 1

The clinical and pathologic features of progressive renal disease in 4 patients with Down's syndrome are described. All patients were male, between 20 and 30 years of age at the time of clinical presentation. Three out of 4 had proteinuria, and 2 had hematuria. Serologic tests for hepatitis B virus infection and antinuclear antibodies performed in 2 patients were negative. Examination of renal tissue from biopsy and/or from autopsy revealed mesangiocapillary glomerulonephritis (MCGN), type 1. While an increased incidence of congenital heart disease and acute leukemias has been documented in Down's syndrome, an association with MCGN has not been reported previously to our knowledge. This probably represents a form of idiopathic MCGN and may be related to the long survival of these individuals.
 ...
PMID:Mesangiocapillary glomerulonephritis in Down's syndrome. 183 96

This report examines the relationship between congenital heart disease (CHD) and neuropathological findings in three groups of patients: Down syndrome (45 cases), isolated CHD (296 cases), and CHD with multiple anomalies (92 cases). The increase in brain weight in Down syndrome was similar to control standards up to 1 year of age, after which it was less than normal. Among the three groups, there were differences in frequency in cyanotic CHD, history of operation, and macroscopic and microscopic brain malformations. The incidence of calcification in the brain was increased in Down syndrome. Nine children out of the total cohort had cerebrovascular abnormalities. Although CHD is frequent in Down syndrome, the cerebrovasculature is spared; only infrequent minor abnormalities of the circle of Willis were detected.
 ...
PMID:Neuropathology in patients with congenital heart disease and Down syndrome. 183 24

A ten year experience (1972-1981) of congenital malformations in Toa Payoh Hospital was presented previously. The experience of birth defects of the second decade (1982-1989) is reviewed and compared. The mortality rates of babies with malformations ranged from 1.52 to 3.55 per 1000 livebirths. There was no significant increase in congenital malformation death rates over the past eight years. There was an increasing trend of malformation deaths among the total neonatal deaths from 1972-1981 (p less than 0.05), but this was not so for the period 1982-1989. The incidence of minor congenital malformations has not changed except that more cases of undescended testes were recorded (p less than 0.05). Central Nervous System (CNS) malformations, congenital heart defects and chromosomal abnormalities still remain the leading cause of malformation deaths. Neural Tube Defects (NTD) were the commonest type of CNS defect and the death rates of NTD for these two periods remain the same (about 0.65 per 1000 births). The prevalence of anencephaly at birth in Chinese and Malay from 1982-1989 is 0.45 and 0.84 per 1000 livebirths respectively. Down syndrome was the commonest type of chromosomal abnormality (63%) and coarctation of aorta (40%) was the commonest type of congenital heart disease causing death. Many congenital malformations are genetically determined. More knowledge of the aetiological factors, antenatal diagnosis of birth defects, preventive measures and genetic counselling are, therefore, important in lowering birth defect rates.
 ...
PMID:Congenital malformations in Toa Payoh hospital--a 18 year experience (1972-1989). 188 74

The numbers of young adults with Down's syndrome is currently increasing due to improvements in survival and a period of increased incident numbers in the 1960s. Deaths from infection have shown the largest decline. Forty-one per cent of survivors suffer from one or more serious morbid conditions, principally congenital heart disease. These changes are adding to the pressures upon local authorities for day and residential care facilities.
 ...
PMID:Recent trends in incidence, morbidity and survival in Down's syndrome. 213 31

Pulmonary tissues obtained from 12 individuals suffering from congenital heart disease associated with Down syndrome were examined by light and transmission electron microscopy and compared with those of 29 cases without the syndrome. Alkaline phosphatase (ALPase) activity, which is known to play an important role in the secretion of pulmonary surfactant, was histochemically examined and compared. The major changes found in the pulmonary tissues examined from pulmonary hypertensive patients were increase in the number of type II alveolar cells and in ALPase activity. ALPase activity was positive in the plasma membrane of type II cells and in the limiting membrane of the osmiophilic bodies contained within them. These changes were more conspicuous and detected at an earlier age in the pulmonary hypertensive individuals with Down syndrome than in those without the syndrome. These observations indicate that the acinar region in pulmonary tissue is affected at an earlier stage, and that changes in the production and secretion of pulmonary surfactant occur, in patients with Down syndrome. Early surgical treatment is recommended for them.
 ...
PMID:Changes in pulmonary tissue of patients with congenital heart disease and Down syndrome: a morphological and histochemical study. 213 97

Moya-Moya disease has been associated to a number of disease entities including Down syndrome. Initial clinical manifestations in our patient were alternating lateralizing seizures with sudden onset hemiparesis. Ct scan demonstrated several infarcts in different stages of evolution, in the territory of left middle cerebral artery. Single digital subtraction angiography showed bilateral occlusion, predominantly on the left side of the supraclinoid portion of the interna carotid arteries with formation of collateral circulation in the diencephalic territory. The association of Moya-Moya disease and Down syndrome is not fortuitous and it is probably due to a congenital vascular dysplasia. It should be suspected in children with trisomy 21 (with or without congenital heart disease) who presents with alternating hemiplegia and convulsions or acute hemiplegia.
 ...
PMID:[Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Report of a case associated with Down's syndrome]. 228 71


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>