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Biomedical subjects

G S Marincheva

Publications and source records attributed to G S Marincheva.

At least 19 recordsLinked to original sources
PubMed1992

[Clinico-electrophysiological characteristics of women--heterozygote carriers of fragile X chromosome].

Overall 21 women, heterozygous carriers of fragile X-chromosome (7 cases of obligate carriership and 14 sporadic cases) were examined by electroencephalography and cytogenetically. In none of them the clinical examination revealed a typical somatic appearance characteristic of Martin-Bell syndrome. Certain somatic disorders, psychasthenic traits, tearfulness and uncommunicativeness were recorded in single cases. The level of intellectual development corresponded to the low norm. Analysis of the EEG has demonstrated that in 76% of the women examined, the character of alpha-rhythm differed from normal. According to its intensity, three variants of the EEG were distinguished. In the majority of women, the EEG manifested the signs of the dysfunction of the diencephalic structures and not gross focal alterations. The character of the EEG does not provide any data which may be of diagnostic importance in revealing heterozygous carriership of fragile X-chromosome.

Action Potentials↗
PubMed1992

[Various familial and demographic indicators in relation to the severity of mental retardation in the probands].

A comparative analysis was made of some familial and demographic characteristics in 3 groups of mentally retarded patients with varying intensity of deficiency. The hypothesis of different etiology of mild and severe mental retardation was confirmed. Appreciable differences were found in the microsocial characteristics in the intermediate group of patients with marked debility. In certain characteristics, this group was similar to the gravest patients whereas in some others, to the group with mild grades of intellectual underdevelopment. This fact can be accounted for by the heterogeneity of the intermediate group.

Adolescent↗
PubMed1991

[Clinical and cytogenetic diagnosis of Martin-Bell syndrome].

A total of 368 patients aged 1 year 11 months to 35 years with oligophrenia were examined cytogenetically. Out of 58 boys with a typical disease picture, the fragile X chromosome (fra-X) was revealed in 57. In all the cases, the syndrome could be diagnosed clinically before chromosomal analysis was made. In a group of children with undifferentiated oligophrenia including those with the sex-linked inheritance type, fra-X was not discovered. Besides, the fragile X chromosome was revealed in 4 girls. Of these, 3 were probands' sisters and one case was sporadic. The girls manifested both symptomatology typical for Martin-Bell syndrome and nonspecific mental retardation. Another 55 probands' relatives were examined clinically and cytogenetically. The fra-X was discovered in 9 mothers of the patients. The mean IQ in the women with the revealed fragile X chromosome was much lower than the mean IQ of all the women, mothers of the sick children. It is concluded that in spite of a wide range of the variability of somatic and psychopathological disorders in patients with Martin-Bell syndrome, the possibility of the clinical diagnosis of the disease without making cytogenetic studies attains as much as almost 100%. Symptoms, specific for the clinical diagnosis of the disease were distinguished.

Adolescent↗
PubMed1990

[New hereditary syndrome with mental retardation].

The clinical picture of the unusual form of mental retardation in 3 boys from unrelated families is described. The disease is characterized by the anomalies of the bones, deficiency of the dental enamel, abnormal hair. The differentiation is made between this disease and the already depicted hereditary defects with injuries to the same structures.

Abnormalities, Multiple↗
PubMed1990

[Clinico-electrophysiological examination of children with Martin-Bell syndrome].

Based on somatic, psychopathological and electroencephalographic examination of 26 boys aged 3-11.5 years with Martin-Bell syndrome it was found that the disease is characterized by noticeable polymorphism. Three types of the encephalograms and 3 clinical types of diseased children were distinguished. The first two types of the EEG accounting for 73.1% of cases in whose clinical picture the teta-rhythm appeared dominant may be of diagnostic importance. The majority of that group of children included those with ambidexterity and left-handedness. In the control group children, the EEG materially differed in 92.3% of cases. No correlation was found between the clinical groups and the EEG patterns.

Cerebral Cortex↗
PubMed1989

[Objectives of improving the system of teaching children with various forms of intellectual impairment].

The authors point to the need of introduction of a more differentiated system of school education for children mastering school subjects with difficulty due to deficient cognitive activity. These children not rarely are considered slightly or temporarily retarded. The authors believe this grading ungrounded and suggest the children to be taught according to a special syllabus within the standards of a secondary school.

Child↗
PubMed1989

[Electrophysiological study of children with various hereditary forms of mental retardation].

Nine children with syndromes of Albright, Coffin-Loury, Ullrich-Noonan, C. De Lange and brachyphalangia with prenatal cerebral affection and severe mental retardation have been examined. They entered group I. Four children with syndromes of Möbius, Christ-Siemens and LEOPARD with secondary retardation of cognitive activity comprised group II. In a case of Coffin-Loury and Albright syndromes electroencephalographic picture was similar to that for Martin-Bell syndrome. In the majority of the patients general changes in the EEG presented with local ones. Correlations between intra- and interhemispheric EEG parameters deviated from those of healthy children matched for age. A drastic prevalence of the left-handers and ambidexters in a primary whereas right-handers in a secondary cerebral disorder has been recorded.

Adolescent↗
PubMed1988

[New hereditary syndrome with mental retardation].

The authors describe a family where the mother and daughter had a number of somatic signs (cutis gyrata on the chin, abnormal growth of hair behind the ears, peculiar dilatation of the intracutaneous vein on the upper arm, etc). The daughter has oligophrenia of the debility type; mother is intellectually normal. It appears that here the authors have encountered a new dominant hereditary syndrome with multiple congenital abnormalities.

Abnormalities, Multiple↗
PubMed1987

[Langer-Giedion syndrome and deletion in the long arm of chromosome 8].

Del(8) (q24.11-q24.13) were detected in 3 patients with typical Langer-Giedion syndrome (LGS) and studied by high-resolution methods. Analysis of the literature strongly suggests the chromosomal ethiology of the LGS, because in all patients examined in detail a deletion of the segment 8(q24.11-q24.13) was revealed, which is critical for the LGS. Interrelationships between the LGS and two monogenic conditions-tricho-rhino-phalangeal syndrome type I and multiple exostoses are discussed. The possible role of c-myc oncogene in exostoses' (including those in LGS) origin is anticipated.

Adolescent↗
PubMed1986

[Behavior disorders in children with mental retardation (data of an epidemiologic study)].

An epidemiological examination of mentally retarded children aged 8-14 years revealed behavioural deviations hindering the patients' adaptation in 31.8%. Behavioural disorders were due to the psychopathy-like syndrome of organic genesis in one group of patients and psychogenic pathological formation of the personality in another. Apart from this, hyperdynamic syndrome (other than psychopathy-like) and neurosis-like disturbances were also attended by behavioural disorders. Among children who had been left without parents from early childhood behavioural difficulties were observed two times more frequently than among children brought up in families, including the so-called difficult families. A total of 66% of mentally-retarded children were either once or repeatedly hospitalized in psychiatric institutions, mainly, in connection with an insufficient correction of behavioural deviations at auxiliary and boarding schools.

Adolescent↗
PubMed1985

[Familial craniometaphyseal dysplasia associated with mental retardation].

The authors describe two sisters with the typical characteristics of cranio-metaphyseal dysplasia and mental retardation. They also discuss a cause-and-effect nature of the pathogenetic relationship of the intellectual deficiency and the systemic bone hereditary damage as well as the difficulty of assessing the type of heredity in the given family.

Adolescent↗
PubMed1984

[Clinical features of sex-linked recessive mental retardation with fragile X-chromosome].

The clinical description of 28 boys with recessive sex-linked mental retardation with an X-chromosome fracture is presented. The peculiarities of the relevant somatic and electrophysiological disturbances have been identified which in some cases make it possible to diagnose and in the remaining patients at least to suspect this disease before application of the cytogenetic methods of investigation. The authors also describe the characteristic psychopathological symptomatology manifested in peculiar schizophreniform disorders.

Adolescent↗
PubMed1983

Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.

A patient with typical features of the Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II) is described. In the karyotype an interstitial deletion of the long arm of chromosome 8 (band 8q22) was observed as the result of a complex rearrangement of chromosomes 1 and 8: 46,XY inv(8)(q23 leads to q242), del(8)(q221 leads to q223), ins(8;1) (q221;p321 p341;q242). Previously reported cases of Langer-Giedion syndrome with deletion of 8q are compared with the present one.

Abnormalities, Multiple↗
PubMed1981

[Families with 2 oligophrenic siblings].

Under observation there were 27 families with two mentally deranged sibs in each born by intellectually normal parents. In 2 of 24 families, the clinical picture of the derangement in the sibs was different, and in the rest of 22 identical. In 3 families, a sex-linked recessive oligophrenia with a nonspecific clinical picture was diagnosed. Prevalent were clinically non-differentiated forms of the oligophrenia. In 2 families, the oligophrenia was combined with clinical signs of hereditary defects of metabolism. Parents' consanguinity was registered in 4 families.

Abnormalities, Multiple↗