Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.

We describe nine patients with an apparently new genetic disorder characterized by: microcephaly with normal intelligence; "bird"-like facial appearance; cellular and humoral immune defects; and increased risk for lymphoreticular malignancies. The postmortem findings of five patients are described. Chromosome instability appears not to be a component of the disorder. The occurrence in three pairs of sibs and isonomy in another family suggests autosomal recessive inheritance.

Equipment for germ-free caesarean section and baby care.

A germ-free isolator system was designed and constructed. It permits a sterile caesarean section and rearing of an infant under germ-free conditions. The system includes a plastic surgical and rearing isolator and two supply isolators; one of the supply isolators served as a transport mobile unit of staff participating in the sterile caesarean section and in the postnatal care of the germ-free newborn underwent to a special training and all of them were able to meet the high requirements of this work. The surgery itself was without complications. The newborn was absolutely sterile up to the age of 1 month; afterwards the infant was gradually colonized with selected strains of bacteria and thus prepared for conventialization. In the course of this work further possibilities of application of gnotobiological techniques in pediatrics were proposed (e.g. care of premature, high-risk neonates).

[Statistical software--review of current products]. / Statistický software--prehled aktuálních produktu.

The paper gives an objective sight on extent variety of submitted statistical packages. It's especially evaluated range and quality of statistical methods, user environment and graphical facility of software. The paper brings information which is dispersed in many sources and therefore is hardly accessible.

[Use of multiple-choice tests in medical education]. / Vyuzití testových úloh ve výuce lékarství.

The actual state of the is connected some problems. The rules for the creation tests from the viewpoint of logics of questions and formal structure are mostly not respected. The mentioned rules are prepared in the field of theoretical pedagogics, but did not entered until now enough in the medical education. The result is the lower relevance of the tests in terms of their validity and reliability. In the paper is presented the set of principles for the correct structure of questions and in the same time the classification of the multiple-choice tests with the rules of their creation.

[The physician and the computer. 28. Expert systems]. / Lékar a pocítac. 28. Expertní systémy.

The authors review problems of expert systems and their application in medicine. They discuss their application, structure and function. Special attention is devoted to questions which concern the users, in particular the selection of the decision making method with regard to the character of the problem and then the structure of the knowledge base. The structure of the medical knowledge base has some specific features which are formulated as the classification of rules of medical knowledge.

[The physician and the computer. 27. Equipment-computer connection (signal processing)]. / Lékar a pocítac. 27. Spojení prístroj-pocítac (zpracování signálu).

The authors discuss basic problems of analogue - digital transmission focused on practical questions with regard to the application of medical technique in combination with a computer. They discuss the different parts of the digital-measurement chain, different methods of signal transmission and finally also practical applications.

[The physician and the computer. 22. Programming in the Prolog language]. / Lékar a pocítac. 22. Programování v jazyce Prolog.

A modern tool of interaction with the computer is the programming language Prolog. The authors discuss its position among other languages, emphasize its different character (declarative programming). They outline basic structures of Prolog and its type of function. They also give examples of creating data bases of patients and the possibility to use this language in the creation of expert systems in medicine.

[The physician and the computer. 29. Learning systems and neuron networks]. / Lékar a pocítac. 29. Ucící se systémy a neuronové síte.

The authors discuss basic properties of the process of learning as a form of artificial intelligence. They deal with the application of adaptive and learning systems in the area of identification, regulation, manipulation and recognition. A very important perspective trend is learning in a medium of neuron networks which are actually software or hardware simulation of the functional architecture of the CNS. The authors discuss peculiar features of representation of knowledge, structure and mode of function of this neuron network. Finally the authors give examples of the solution of optimalization and classification tasks within the framework of neurocomputers.

[The physician and the computer. 26. Commercial software]. / Lékar a pocítac. 26. Komercni software.

The authors give an account of different types of commercially supplied programmes which can be used also in the health services. They discuss the properties and types of different software - data base programmes, text processors, graphic and statistical programmes and finally so-called integrated software along with data on possible mutual combinations. At the same time also general conditions for the application of these programmes within the framework of clinical informations systems are discussed incl. their advantages and short-comings.

[The Internet and medicine. I. Historical development, current organizational structure, E-mail, the Web and discussion forums]. / Internet a medicína. I. Historický vývoj, soucasná organizacní struktura, e-mail, web, multimédia a diskusní fóra.

The authors present an account on the historical development of the most important contemporary information network INTERNET from its beginnings in the sixties to the present time. They explain the historical circumstances of its development, elucidate its character and describe the creation and fusion of all main information networks during the seventies, eighties and nineties up to their present shape. They deal with the contemporary organizational structure of INTERNET, safety and reliability of transmitted information and values of its services. They explain terms like E-mail, Web, multimedia and discussion fora and describe how to join this gigantic information network in practice.

[The Internet and medicine. II. Present status and perspectives in the use of the Internet in Medicine]. / Internet a medicína. II. Soucasnost a perspektivy vyuzití internetu v medicíne.

The authors present an account of all contemporary possibilities to use Internet in medicine. They summarize the advantages and disadvantages of electronic mail (E-mail) and give a list of services available via the World Wide WEb: the possibility to inspect more than seventy medical journals, consult books and specialized databases and acquire further medical training. They demonstrate actual possibilities how to use Internet in everyday medical practice. The authors present also data indicating the general scope of Internet and its application in medical sciences. In the conclusion the authors reflect on the future application of Internet and point out some risks which may interfere with or threaten in the near and remote future the use of Internet.

[The physician and the computer. 30. Evaluation of time, different aspects of the same problem]. / Lékar a pocítac. 30. Posuzování casu, ruzné pohledy na týz problém.

The authors mention different ways in which a give problem can be described within the framework of the theory of sets, logic, mathematical analysis, statistic and cybernetics. As an example of the confrontation of the mentioned aspects they discuss different approaches to the evaluation of time as a variable--temporal logic, Markov chains, theory of catastrophes which play a part in medicine, in particular in prognostic considerations. These different aspects make possible solutions which may differ and their application depends in particular on the purpose for which they are intended.

[Immunologic findings in children with abnormal reactions after vaccination]. / Imunologické nálezy u detí s neprimerenými reakcemi po ockování.

In a group of 89 children with abnormal reactions after administration of the mixed vaccine against diphtheria, tetanus and whooping cough, after the mixed vaccine against diphtheria and tetanus, the live measles vaccine and oral poliovaccine, a detailed analysis was made of the case-history, and basic parameters of cellular and humoral immunity were examined. In these children the intensity of post-vaccination reactions was beyond the range of accepted criteria of mild and medium reactions or complications. In 17.3% of the children with an abnormal reaction after the mixed vaccine against diphtheria, tetanus and whooping cough a reduced IgA level was proved, while in the control group a reduced level was found only in 3.3%. 50% of the children who developed an abnormal reaction after the oral poliovaccine and the mixed vaccine against diphtheria, tetanus and whooping cough and at the same time some relative suffered from clinical signs of atopia, a reduced number of E rosettes of lymphocytes was recorded. 80% of the children who developed an abnormal reaction after the measles vaccine and some relative suffered from atopic disease, had low titres of specific antibodies against tetanic toxoid. Evidence was provided that children with certain precisely defined abnormal reactions after vaccination suffered significantly more frequently from reduced immune reactivity than children examined because of a suspected immunity defect.

[The further development of bronchial asthma which began in childhood]. / Pohled na dalsí vývoj astma bronchiale, které vzniklo v detství.

The paper evaluates the contemporary health status in 115 former child asthmatics, investigated in the past at the allergological department of the First Paediatric Clinic and Faculty Policlinic in Prague-Motol. The data were obtained by processing of a questionnaire and retrospective analysis of the patients' health records. The mean age of the investigated group is 26 years (21-37) incl. 77 men and 38 women. Of these 85, i.e. 74%, still suffer from asthma in adult age, incl. almost half (55 patients) who suffer from the milder form, only one quarter suffers from the more severe form (30 patients) and in one quarter the quiescent stage has been reached. In those where asthma persists there is concurrent eczema (26%), pollinosis (44%), other forms of allergy (43%). Where asthma is in the quiescent stage, eczema is present in 10%, pollinosis in 33% and other allergies in 27% of the investigated subjects. A greater probability of favourable development is in boys as compared with girls and in those without a family-history of allergy and where the disease developed only during late childhood and the patients themselves do not suffer from any other allergosis. A positive family-history of allergy, early onset of the disease and concurrent eczema signalize a poorer prognosis.