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Biomedical subjects

D Benesová

Publications and source records attributed to D Benesová.

At least 19 recordsLinked to original sources
PubMed1990

The experience with the foetal diagnosis of the cystic fibrosis in the second and first trimester.

The amniotic fluid activity of gamma glutamyl transpeptidase (GGT), leucine aminopeptidase (LAP) and alcaline phosphatase (AP) and disacharidases was examined in 66 pregnancies with the risk of cystic fibrosis (CF) in the 17th-21st weeks of gestation. So far 28 pregnancies continue. The prenatal diagnosis was confirmed in all so far delivered children or aborted foetuses if the GGT activity was higher than 400 U/1 (10th percentile) or lower than 190 U/1 (3rd percentile) in the 17th-18th weeks. The results of other microvillar and ultrasound examinations were consistent with it. From 3 pregnancies with GGT activity in the range of 3-5 percentiles and abnormal activities of other microvillar enzymes, the CF was confirmed only in one aborted foetus with meconium ileus and with abnormal ultrasound examination. In other 2 pregnancies with normal ultrasound, healthy children were delivered. In 3 pregnancies with the GGT in the range of 5-10 percentiles and abnormal other microvillar enzymes, one false negative GGT and ultrasound examination was disclosed. The other 2 aborted foetuses did not exhibit the signs of CF in necropsy examinations. The meconium ileus was found in 2/4 of aborted foetuses with GGT lower than 3 percentiles, abnormal activities of other microvillar enzymes and abnormal ultrasound examination. The ultrasound examination was correct in 2/10 of pregnancies with GGT lower than 3 percentiles or abnormal activities of other microvillar enzymes. The GGT examination in 19th-21st weeks provided similarly reliable diagnostic results. The importance of fetal karyotyping and ultrasound elimination of other severe congenital anomalies is pointed out for critical interpretation of microvillar enzyme activities testing.(ABSTRACT TRUNCATED AT 250 WORDS)

Cystic Fibrosis↗
PubMed1990

Cardiomyopathy and changes of skeletal muscles in cystic fibrosis.

Cardiomyopathy (CMP) was found in 26 children with cystic fibrosis (CF), 24 of them died, the majority of them during the first 3 years of life. Only 4 of them were older than 10 years. 2 children are living. CMP must be suspected in young children with CF and early heart failure. When CMP is the cause of sudden death, CF has to be suspected. The combination of changes in skeletal and cardiac muscles in CF is reported here for the first time.

Cardiomyopathies↗
PubMed1988

Distribution of age at death in children with congenital heart disease who died before the age of 15.

In the 27 years from 1952 to 1979 (before the introduction of advanced cardiac surgery) all children in Central Bohemia (population 1.2 million) who died before the age of 15 were examined at necropsy. Period death rates at various ages were calculated in those with congenital heart disease. Nearly all the deaths (848, 89.6%) occurred in the first year. Forty three (44% of survivors) died in the second year and 17 (31% of survivors) died between the second and fifth years. Over half (20) of the survivors died between the fifth and tenth years. Nearly half (44.2%) of those born with congenital heart disease who died before the age of 15 died in the first four weeks. About a third (29.1%) died in the first week and period death rates were 9.7%, 7.6%, and 5.7% for the second, third, and fourth weeks respectively. In neonates death rates were highest in those with hypoplastic left heart syndrome (89.2%), coarctation of the aorta (66.7%), truncus arteriosus (61.8%), double outlet right ventricle (57.1%), and pulmonary atresia (56.3%).

Adolescent↗
PubMed1986

Causes of death in neonates born with a heart malformation.

All deceased infants were autopsied in a territory with a population of 1 220 000 inhabitants and a mean of 17 410 live births a year. During a period of 25 years (which preceded the introduction of advanced neonatal cardiac surgery), 393 neonates (6% of all deceased neonates) had died in whom a congenital heart malformation was found at autopsy. 118 (30%) of deaths were due to noncardiac causes. Lethal congenital noncardiac malformations caused death in 38 (10%) neonates. A perinatal disease (including birth trauma) was the cause in 65 (16%) neonates. An association of a noncardiac congenital malformation with a perinatal disease was involved in 6 (2%) neonates and a birth weight lower than 1000 g (together with a lethal perinatal disease or alone) was considered responsible in 9 (2%) neonates. Noncardiac but not unambiguously lethal malformations (mostly multiple) could at least have contributed to the fatal outcome in a further 86 (22%) neonates. A low birth weight could have contributed to death in 102 (26%) neonates, particularly in 42 (11%) neonates with a low birth weight associated with multiple noncardiac nonlethal malformations. A most probable or possible noncardiac cause of death was found in all cases of atrial septal defect, in 93% of tetralogies of Fallot, in 84% of ventricular septal defects, in 72% of hearts with double outlet right ventricle and in 57% of those with aortic coarctation. A congenital heart malformation was considered responsible for a fatal outcome in 82% of cases with discordant ventriculoarterial connexions ("transposition of the great arteries"), 79% of hypoplastic left hearts, 68% of pulmonary atresias and 53% of tricuspid atresias. The high proportion of noncardiac death noted to occur in the first postnatal day was found rapidly to decrease in the following days.

Age Factors↗
PubMed1985

Distribution of congenital heart malformations in an autopsied child population.

All stillborn and all deceased children were autopsied during a 27-year period in a given territory with some 1,220,000 inhabitants. Of the 3969 stillborn children, 81 (2.1%) had a congenital heart malformation. Out of the 470,188 liveborn children, 13,629 died before the age of 15 years. Autopsy demonstrated a heart malformation in 1008 (0.21%) of these liveborn children. Thus, with 1089 cases found in the combined stillborn and liveborn and later deceased children, congenital heart malformation was found in 6.2% of all autopsied children. This represented 7.4% of the total mortality of liveborn children and 41.4% of all congenital malformation discovered in the deceased children. In total, 2257 congenital heart lesions were identified with a mean of 2.1 lesions per child. The lesions were classified in 37 categories of heart malformation. The most common malformation was ventricular septal defect, followed by hypoplastic left ventricle and complete transposition. The most frequent heart lesion was also ventricular septal defect followed by patency of the arterial duct. The frequency of the different heart malformations in stillborns differed from that in the liveborn children. The ratio of boys and girls in the overall series was 1.28:1, with pronounced differences in sex distribution being observed in some malformations.

Adolescent↗
PubMed1981

Congenital heart diseases at autopsy of still-born and deceased children in the Central Bohemian Region.

In 1952-1976 autopsy was performed of all 3 734 still-born and 12 809 deceased children in the Central Bohemian region. Congenital heart disease (CHD) was found in 1 067, i. e. 6.45%, of all autopsies. The death rate from CHD in live-born and in still-born infants was 2.1/1000 and 22/1000, respectively. Of all congenital malformations CHD represented 41.4% in the deceased and 21.2% in the still-born infants. The incidence of congenital malformations involving other systems in CHD was 41.4%, the highest incidence being associated with anomalous position of the heart, endocardial cushion defect and ventricular septal defect. The most common associated malformation were congenital anomalies of the gastrointestinal tract. Down's syndrome was identified in 11.5% of all CHD ending in death. Ventricular septal defect, transposition of the great arteries and hypoplastic left-heart syndrome were the most frequent CH diseases. 85.7% of children with CHD leading to death died within the first year of life; 27.3% of CHD infants had a low birth weight.

Abnormalities, Multiple↗
PubMed1979

[Larsen's syndrome].

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Abnormalities, Multiple↗
PubMed1978

Premature closure of the foramen ovale with levoatriocardinal vein.

Two cases of the hypoplastic left heart syndrome with premature closure of the foramen ovale and levoatriocardinal veins are described and the literature is reviewed. One of the patients is the only case with both mitral and aortic valve atresia. The other is associated with the asplenia syndrome, double-outlet right ventricle without ventricular septal defect, and an anomalous connection of the left atrium to the right auricle.

Angiocardiography↗