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Biomedical subjects

F Koukolík

Publications and source records attributed to F Koukolík.

At least 19 recordsLinked to original sources
PubMed2006

Argyrophilic grain disease: case report of the first two cases in the Czech Republic and review of the literature.

Argyrophilic grain disease (AgD) is a relatively newly described neurodegenerative disease with late-onset dementia. Morphologically it is characterized by the presence of abundant spindle-shaped argyrophilic grains (ArG) in neuronal processes and coiled bodies in oligodendrocytes. ArG consist of abnormally hyperphosphorylated form of tau protein. AgD is a substrate of at least 5% of all dementia cases with increasing incidence in the old age. Here we report the cases of a 91-year-old woman and an 83-year-old man clinically diagnosed with dementia. Neuropathological, histochemical and immunohistochemical examination of the brain tissue show the changes to be compatible with a definite diagnosis of AgD. This is the first description of two cases of AgD in the Czech Republic.

Aged, 80 and over↗
PubMed1999

[Molecular genetic analysis of Alzheimer's dementia in the Czech population. The APP-717 mutation in the gene for amyloid protein precursor].

BACKGROUND: Although locus mutations in the gene for the amyloid precursor protein were already described in patients with Alzheimer's disease, there still are some patients where this mutation was not found and no link was found with other possible genetic loci on chromosomes 14 and 19. Therefore a group of subjects with Alzheimer's disease was subjected to tests for the presence of a mutation in the APP gene (in position 717). METHODS AND RESULTS: In a selected group of subjects with Alzheimer's disease (AD) in the gene for amyloid precursor protein in position 717 mutations of its transmembraneous region are found. The authors analyzed the genome DNA of cerebral tissue of Czech subjects for the presence of this mutation by means of the polymerase chain reaction with subsequent verification by sequencing analysis. In every subject genetic analyses from cerebral areas of the frontal lobe, temporal lobe, parietal lobe and hippocampus were performed. The methods used were the polymerase chain reaction (PCR) and sequencing. From the total number of 18 subjects with confirmed Alzheimer's disease and six non-related subjects without histopathological signs of Alzheimer's disease after the age of 90 years, three sequencing changes were found in position 717 of exon 17 of the transmembranous region of the precursor of beta-4 amyloid glycoprotein. In the first case it was substitution of thymin for adenine in codon 717, in the second case substitution of cytosine for thymine, in the third case a sporadic mutation of guanine for thymine in codon 717 was found. CONCLUSIONS: It was revealed that codon 717 could be a so-called hot spot site preferred for the preferential development of mutations in codon 717 in the gene for the amyloid precursor protein (APP).

Aged↗
PubMed1998

[Transmissible spongiform encephalopathy].

Transmissible spongiform encephalopaties (TSE) are a group of rare fatal diseases of humans and animals. Prions, small infectious proteinaceous particles, are their supposed cause. Prusiner's theory (Nobel price 1997) proves that pathogenetically active prions are conformated physiological prions but problems of pathogenesis of TSE are still open. Most important representative of human TSE is Creutzfeldt-Jakob's disease (CJD), that of animal TES is bovine spongiform encephalopathy (BSE). It seems that a new variant of CJD found in more than 14 young people in the UK is in reality human BSE. Whether it means start of an epidemy of human BSE is not known.

Animals↗
PubMed1997

[Epidemiologic autopsy of Binswanger's disease].

BACKGROUND: Binswanger's disease is the most substantial part of the continuum of ischemic vascular dementia (IVD). IVD is the second most frequent cause of dementia in industrialised countries. The frequency of IVD generally, and of the Binswanger's disease especially, is due to the method of statistical data collection, in the Czech republic not known. METHODS AND RESULTS: The crude rate of Binswanger's disease diagnosed histologically among the autopsies of 132 men and 212 woman aged 60-99 yr. performed at Thomayer's University Hospital from 1. 7. 1995 to 1. 7. 1996 by use of by principle of "epidemiologic" autopsy was estimated at 7.9%. This is about a half of the crude rate of Alzheimer's disease found in the same cohort. By estimating of histological "ischemic score", which is independent on clinical data, it is possible to diagnose the Binswanger's disease with high probability. CONCLUSIONS: The sensitivity and specificity of clinical diagnosis IVD generally and of BN in particular is low. IVD/BN is one of the most frequent and consequential ailment in higher age groups. IVD/BN is preventable and curable at earlier stages of development. Knowledge and precise and timely diagnosis of IVD/BN is fundamentally important for patients.

Aged↗
PubMed1996

[Epidemiologic autopsy in Alzheimer's disease].

BACKGROUND: The prevalence of Alzheimer's disease (AD) in the population older than than 65 yr. has been estimated in industrialized countries at approximately 10% (8.1-12.5%). AD in the Czech republic in the year 1992 in the official statistics (Institute of Health Information and Statistics, UZIS) has been diagnosed in 22 cases of deceased and 175 sick patients. METHODS AND RESULTS: The crude rate of AD diagnosed by the Khachaturyans method among 2,197 autopsies of people aged 65-99 yr. performed at Thomayer University Hospital from 1988-1992 by use of principle of "epidemiologic" autopsy was estimated in this age group at 0.7%/100,000 thousand men/year and 1.4%/100 thousand women/year. Demographically standardized death rate in AD is 285.25/100 thousand in men and 604.24/100 thousand in women. The prevalence of AD in the whole group was 7.46%. The frequency of AD steeply rises with age with the exception of the tenth decade when the increase stops. CONCLUSIONS: AD is therefore one of most frequent diseases in this country too. AD in this republic is probably not being clinically and autoptically adequately diagnosed or its diagnoses do not become part of official statistics.

Aged↗
PubMed1995

[Morphologic verification of neoplastic portal vein obstruction].

BACKGROUND: Tumourous invasion into the portal circulation is a frequent and typical complication of primary carcinoma of the liver. No imaging method can, however, assess unequivocally the biological nature of the vascular occlusion and rule out reliably the possibility of benign thrombosis. The objective of the present work was to evaluate the yields of percutaneous thin-needle aspiration biopsy for the verification of intraluminal growth of a tumour, which influences to a considerable extent decisions and possible subsequent therapeutic provisions. METHODS AND RESULTS: Aspiration biopsy of the thrombus was performed in 33 patients with an ultrasonographically apparent occlusion of the portal circulation associated in 29 observations with primary carcinoma of the liver and in four instances with secondaries in the liver. For puncture thin needles--0.8-0.9 mm (21-20 G) were used inserted under ultrasonographic control. The presence of tumourous cells in the portal vessels was proved in 31 patients, i.e. in 94%. An oncologically negative result of biopsy was recorded in one patient with primary carcinoma of the liver and in a female patient with secondaries. Among morphologically verified tumourous occlusions complicating primary carcinoma of the liver a multinodular variant of a tumour was found in 11 observations and a solitary form (mean size of the focus 9 cm) in 10 observations. In 7 patients the vascular occlusion and positive result of biopsy revealed the existence of a diffuse infiltrating type of tumour. In the histological structure of the tumour which was assessed in 13 primary carcinomas of the liver differentiated types of neoplasms predominated unequivocally (10 cases) over non-differentiated tumours (3 cases). CONCLUSIONS: Thin-needle aspiration biopsy is a highly sensitive method for the detection of vascular expansion of liver tumours. It can be used successfully and without risk to assess staging of the disease where necessary.

Female↗
PubMed1993

[Linkage analysis in pedigrees with Alzheimer's dementia].

Linkage analysis with three specific DNA markers was carried out on the Alzheimer's dementia pedigrees. The DNA markers used in our study, D21S1/D21S11, D21S13 and D21S16 in the 21q11.2-21q21 regions are localized. The results from different brain DNA samples and from peripheral blood samples of AD families were evaluated by two-point linkage analysis. The linkage between DNA markers and one AD pedigree was observed (D21S1/S11 and D21S13).

Alleles↗
PubMed1992

[Structural changes in the brain in schizophrenia and affective psychoses].

Kraepelin (1896) and Bleuler (1916) were convinced that schizophrenia has an anatomical basis. Evidence is provided now by visualization methods made in vivo and stereometric methods used in neuropathology. Schizophrenia is associated with enlargement of the lateral and the third ventricle, widening of the sulci between gyri of the cerebral cortex, a decline of the weight of the brain, volume of the cerebral cortex and central gray matter. Histological examination reveals reduction of the parahippocampal gyrus thickness, changes in the hippocampus are controversial. Numerical atrophy of neurons was found in the mediodorsal nucleus of the thalamus, amygdaloid nucleus, prefrontal cortex, impaired pattern of neuronal modules were found in the g.cinguli. Some anatomical changes correlate with differences revealed by neuropsychiatric examination, positron emission tomography and examination of evoked potentials. Schizophrenia can be at least in some instances the consequence of developmental disorder of the brain. The problem of continuity of schizophrenia and affective psychoses is discussed.

Affective Disorders, Psychotic↗
PubMed1992

[Creutzfeldt-Jakob disease as a cause or complication of senile dementia].

Two observations of Creutzfeldt-Jakob disease, one typical, the other atypical, recorded in a brief series of consecutively examined brains of demented patients who died at psychiatric clinics suggest that this disease occurs more frequently in psychiatric departments. The authors deal with the standard clinical and neurohistological diagnosis and the differential diagnosis. As molecular biological techniques are becoming more widely available, these examinations should be made in cases of dementia with a "negative" neurohistological finding.

Aged↗
PubMed1992

[Relation of dementia, Alzheimer's disease and aging].

Relation of dementia, Alzheimer's disease and brain aging was analyzed in a group of 50 persons who decreased at the age of 90 or more. Each of them were investigated according to 87 clinical a pathological variable features. The group has remained the world biggest for the time being. Final diagnosis of Alzheimer's disease is a histological one. Author proved that it depended on criteria lacking of world wide standardization. Various criteria could show the Alzheimer's disease as a phenomenon either not increasing in the 10th decade and differing from aging, or increasing and close or equal to aging. Statistical analysis of author's data could distinguish between non-demented and seriously demented individuals according to the number of plaques. A quasi-selective amnesia of old persons which is taken for a "benign senile forgetfulness" could be a sign of evolving Alzheimer's disease. Dementia is an unevitable condition for the diagnosis of Alzheimer's disease. This is without doubt important for a clinical diagnosis and not for a morphological expression of biological event. Author presume there exists an Alzheimer's disease under clinical threshold which combined with a clinically manifest disease does increase with the age and inflicts on 9 per cent of population in the 10th decade. Alzheimer's disease seems to be a fundamental biological event at least related to brain aging. A productive research problem might be to find out why "Alzheimer" features measured by common methods avoid 10 per cent of population in the 10th decade.

Aged↗
PubMed1991

The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.

The suspicion of prenatal meconium ileus syndrome was raised in a pregnancy in a family with no history of cystic fibrosis because of significantly higher maternal serum alpha-fetoprotein in the 16th and 19th week of gestation, dispersed areas with increased echogenity in the fetal abdomen, slight fetal ascites in the 24th-25th weeks of gestation, decreased amniotic fluid gamma-glutamyltranspeptidase (GGT) activity and alpha-fetoprotein level in the 25th-26th weeks, and normal 46,XY karotype of the fetus. The detection of a homozygous deltaF508 cystic fibrosis transmembrane regulator (CFTR) gene mutation, by means of PCR from a small amount of white blood cells and urine sediment cells, substantiated the diagnosis of cystic fibrosis in a prematurely delivered boy in the 28th week of gestation. The repeated sweat test was unsuccessful. The autopsy examination confirmed the diagnosis of cystic fibrosis. Fetal meconium ileus syndrome was complicated by peritonitis and by formation of a meconium pseudocyst. Direct PCR typing improves postnatal diagnostic possibilities in the early neonatal period in prematurely delivered babies when the sweat test is difficult to perform.

Chromosome Deletion↗
PubMed1990

[Correlation of the autopsy with the clinical diagnosis].

Since Morgagni's times (1761) the purpose of autopsy is correlation of the clinical diagnosis and therapy, assessment of the cause of death, description and the diagnosis of unknown diseases, teaching and later collection of epidemiological data. The clinical and pathological correlation involves assessment of the sensitivity and specificity of the clinical diagnosis (autoptic findings are conceived as the reference value), and assessment of the frequency and seriousness of diagnostic errors. The importance of autopsies is apparent from the fact that the sensitivity and specificity of clinical diagnoses of some common diseases improved between 1930 and 1977, in others it remained the same, in others it deteriorated. Deterioration pertains in particular to the diagnosis of infectious diseases, some types of malignant tumours and diseases of the circulation, regardless of technological advances of diagnostic methods. The rate of errors in the diagnosis of basic diseases leading to death and immediate causes of death where knowledge of the autoptic diagnosis would probably changes the therapy and prognosis varies round 10%, the frequency of similar errors, where this knowledge would not alter the above procedures is twice or three times as high. If for the interpretation of autoptic results the "epidemiological" principle is used, the different incidence of common diseases in the population, as compared with official statistics becomes apparent, the official statistics being based on the collection of data from the death certificates. The latter data are biased by a high rate of diagnostic errors and selection phenomena.

Autopsy↗
PubMed1990

[Correlation of the autopsy with the clinical diagnosis in common neoplasms in a general hospital].

The author correlated in a group of 1100 autopsies made in 1987-1989 the clinical and autoptic diagnosis of malignant neoplasms of the bronchi, lungs, stomach, large intestine and rectum, liver and extrahepatic biliary pathways, pancreas and kidneys. In the case of the stomach, large bowel, liver and pancreas the diagnosis moreover with the diagnosis of non-tumourous diseases of these organs. As compared with worldwide autoptic correlations, the diagnostic standard of carcinoma of the bronchi and lungs is roughly equal, in carcinoma of the liver it is better, in carcinoma of the extrahepatic biliary pathways and stomach it is worse. The diagnostic sensitivity of malignant tumours varies from 0.6 to 0.4 and thus in 40-60% of autoptic findings of the mentioned neoplasms an accurate clinical diagnosis was not established. The rate of diagnostic errors of the first type is, however, in this group of differing clinical and autoptic diagnoses lower than in diseases caused by infectious causal agents, the rate of errors of the second type is high. Comparison of the diagnosis of tumourous and non-tumourous diseases of the stomach, large bowel, pancreas and liver revealed roughly the same diagnostic standard with the exception of cirrhosis of the liver where it is lower.

Autopsy↗
PubMed1990

[Correlation of autopsy findings with the clinical diagnosis in common diseases of the circulatory system in a general hospital].

In a group of 1100 autopsies made in 1987-1989 the author correlates the clinical and autoptic diagnosis of embolism of the pulmonary artery, acute myocardial infarction, valvular defects, chronic cor pulmonale, cardiomyopathies, cerebrovascular attacks, subarachnoid haemorrhage; the latter was compared with the diagnosis of chronic subdural haematoma. The sensitivity of the clinical diagnosis of some diseases is low, in different categories 10-80% of diseases escape the clinical diagnosis. As compared with correlations of clinical and pathological findings published abroad, the standard of diagnosis of embolism of the pulmonary artery is roughly the same (some 80% controversial clinical and autoptic diagnoses), in acute infarction it is worse (some 50% controversial diagnoses), in acute cerebrovascular attacks it is worse only when compared with some (cca 25-40% controversial diagnoses according to the categories of the international classification). Evaluation of the sensitivity and specificity of the clinical diagnosis is only orientational, more important is the frequency of diagnostic controversies with regard to severity. Errors of the first type, i.e. those where knowledge of the autoptic diagnosis before death would have most probably influenced the therapy and prognosis is in embolism of the pulmonary artery and myocardial infarction 10 and 13% resp., in the other categories errors are rare or absent, there are, however, frequent errors in the diagnosis of subdural haematoma.

Autopsy↗
PubMed1990

[Autopsy correlations in the clinical diagnosis of serious diseases caused by infections in the practice of a general hospital].

The author correlated in a group of 1100 autopsies made in 1987-1989 the clinical and autoptic diagnosis of active tuberculosis of the lungs and organs, bacterial meningitis, acute and subacute endocarditis, septicaemia, acute cholangitis, diffuse suppurative peritonitis, renal infections, and pneumonias. Class I diagnostic errors, i.e. those where knowledge of the diagnosis before autopsy would have probably changed therapy and the prognosis, were encountered in all groups of correlated diseases, however, with a high frequency in tuberculosis of the lungs and organs, septicaemia, renal infections and pneumonias. It seems that the diagnostic vigilance to some common serious diseases caused by infections declines in the practice of general hospitals. This experience was recorded also in hospitals abroad. Causes of diagnostic errors are discussed.

Autopsy↗