PubMed Health⌕ Search

Biomedical subjects

M Vyhnálek

Publications and source records attributed to M Vyhnálek.

7 recordsLinked to original sources
PubMed2005

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

Mutations in the early growth response 2 gene (EGR2) cause demyelinating neuropathies differing in severity and age of onset. We tested 46 unrelated Czech patients with dominant or sporadic demyelinating CMT neuropathy for mutations in the EGR2 gene. One novel de-novo mutation (Arg359Gln, R359Q) was identified in heterozygous state in a patient with a typical CMT1 phenotype, progressive moderate thoracolumbar scoliosis and without clinical signs of cranial nerve dysfunction. This patient is presently less affected compared to previously described Dejerine-Sottas neuropathy (DSN) patients carrying another substitution at codon 359 (Arg359Trp, R359W). This report shows that EGR2 mutations are rare in Czech patients with demyelinating type of CMT and suggests that different substitutions at codon 359 of EGR2 can cause significantly different phenotypes.

Adolescent↗
PubMed1990

Care for cystic fibrosis patients in Czechoslovakia.

A long-term study was carried out in a group of 325 patients with cystic fibrosis (CF) aged 6 months to 34.5 years who lived in Czechoslovakia to December 31, 1988. Care for CF patients is concentrated in so called CF centres which are established mainly by children's clinics. The patients have been systematically examined both clinically and in the laboratory. There is a close cooperation with the department of rehabilitation. Special attention is paid to psychological and social problems of patients and their families. Care for patients older than 18 years is provided in the departments of internal medicine and respiratory diseases for adults. Due to a complex care coordinated by CF centres the mean age of surviving CF patients has kept on increasing and the quality of their life has been improving.

Adolescent↗
PubMed1990

Psychosocial typology of the CF family system.

From the psychological point of view we focused our attention to the study of chosen dimensions of the family systems in a group of 72 parents a 27 matrimonial pairs. The typology of the families was carried out, familial and matrimonial strengths the incidence of life events in the family, the way of coping with unfavourable influences inside and outside the family and the quality of life were followed up. We used the battery of tests by Olson and coworkers (1983): FACES II (Family Adaptatibility and Cohesion Evaluation Scales), Family Strengths, ENRICH, FILE (Family Inventory of Life Events), F-COPES (Family Coping Strategies), QL (Quality of Life). As for family functions in CF the risk groups are young marriages up to the 6th year of duration, age of parents up to 30 years, parents older than 41 years, families with 1 child only, the families where the disease has a severe course. Optimal situation in familial functions is observed in parents aged 31 to 40 years, and in families with 2 children. Valuable can be the finding that 3 age differentiated groups of parents (up to 30 years) show a typical adaptation behaviour to the presence of severe hereditary chronic and lethal disease of the child.

Adaptation, Psychological↗
PubMed1990

The supporting weekend's meeting of families with CF children.

Since 1977 3 day-weekend's working meetings have been repeatedly organized for the families with CF children. Several times 97 families comparising 187 parents and 182 children--(of these 101 child patients aged 4-17 years)--took part in them. For one meeting 11 complete families are invited. The working weekend's meeting of complete families (WWM) connects in itself the advantages of parental, thematically oriented discussion group and the principles of psychotherapy by means of modelling. For establishing the program of parents' groups, first of all the level of knowledge on CF was tested by the questionnaires. Other questionnaires contained both the expectation of parents and their evaluation of the psychotherapy. The aim of WWM is: 1. to improve the knowledge of parents about disease, 2. to correct wrong ideas on the disease, 3. to learn both parents the therapeutic rehabilitation, 4. to enable an open discussion between both parents and between parents and health personnel, 5. improving family functions by means of stimulations for free time of the family and 6. to catalyze the reproductive decision of the family if the parents are in fertile age--to inspire the planning of a new family on the basis of the method of prenatal diagnosis. CF is chronic, lethal, genetically conditioned disease. The complex therapy of CF patients enables to prolong their life often up to the adulthood. At the same time the possibility of prenatal diagnosis in CF decreases the risk of birth of another affected child in the family.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1990

Summer and winter recondition camps for children with cystic fibrosis.

Summer and winter recondition camps are organized for children aged 6 to 17 years. Both types of camps include sportive activity where the methods of therapeutic physical training are used with the stress on the psychosocial rehabilitation. The paper describes the camps' program: daily regimen of children, motion activity, psychology of forming children's subgroups, psychosocial attitudes. Team attitude of medical, rehabilitation and psychological care is reported. The results of a questionnaire study of 72 children show that the stay in recondition camps enables the patients to acquire more realistic view on themselves. Here take place: 1. informal testing of physical and mental abilities of the patients which enables the comparison with equally affected contemporaries, 2. testing of new skills, 3. assessment of own attitudes to the disease, 4. experience of succes or failure in competition games, 5. creation of friendly relations, 6. modeling of life situations as cooperation and competition. The acquired experience and skill from the camps enable the patients optimal adaptation to the disease and an easier assertion into the collective of healthy children at school. Since 1986, summer and winter camp have been repeatedly organized in Jabkenice and Záton-Lenora for the patients with CF. Psychosocial therapy is realized with the group of child patients (45 children in summer recondition camp Jabkenice and 25 children in winter recondition camp Záton-Lenora). Their aims was recondition, rehabilitation, recreation and socialization. The summer camp has the administration: medical staff--3 physicians, 1 physiotherapist, 5 specialists for camp programme, 4 cooks, 1 provision coordinator, 1 driver.(ABSTRACT TRUNCATED AT 250 WORDS)

Camping↗