[An endoapparatus for restoration of hip joint].

The possibility of prolonging the anatomic and functional longevity of joints in young patients with coxarthrosis deformans under conditions of long-term unloading using a submersible distraction device is considered. A submersible endoapparatus for restoration of hip joint is described. Its functional capabilities as an unloading device were corroborated by experimental testing. Clinical examples illustrated with X-ray photographs demonstrate the possibility of long-term unloading of the injured joint and postponement of endoprosthesis replacement in young patients by 20-25 years. It is suggested to use the developed method for organ-sparing surgery in young working-age patients.

[Rigidity of psyche processes and factors predisposing to schizophrenia]. / Rigidnost' psikhicheskikh protsessov v sisteme faktorov predraspolozhennosti k shizofrenii.

To evaluate the rigidity of psychic processes (RPP) as a factor predisposing (vulnerability) to schizophrenia and to study interactions between RPP and other susceptibility factors, psychological characteristics and magnetic resonance tomography data have been studied in 26 families with schizophrenia. Correlation, cluster and regression analyses and trait phenotypic variance decomposing into genetic and environmental components for heritability estimation were used. RPP indices in patients with schizophrenia and their relatives differed significantly from those in the control group of healthy subjects without positive family history of schizophrenia. The RPP heritability was estimated as high (58%). In RPP patients, RPP clustered with parameters of attention, memory, dynamic and intellectual activity; in the siblings--with attention, dynamic and intellectual activity and the width of anterior horns of left and right lateral ventricules next to genum, in the parents--with motivation, attention, memory, dynamic and intellectual activity. In the siblings, heritability for parameters of frontal horn lateral ventricules was estimated as high (66%) for the right ventricles and moderate (30%) for the left ones. Both morphological parameters are among morphological predictors for prognosis of negative symptoms in the patients with schizophrenia. The authors regarded RPP as a factor predisposing to schizophrenia.

5HTR2A gene polymorphism and personality traits in patients with major psychoses.

Serotonin receptor (5HTR2A) gene polymorphism has been reported to be associated with clinical phenotypes in schizophrenia. The current study attempted to investigate a relationship between 5HTR2A 102T/C polymorphism and personality traits as well as clinical symptoms in patients with ICD-10 diagnoses of schizophrenia and affective disorders. 5HTR2A genotyping, clinical and psychological assessment were administered to 375 patients, 104 first-degree healthy relatives of the patients and 157 controls. In the patients an association was observed between the 2/2 5HTR2A genotype and scores on the Hypochondriasis scale (MMPI) (ANOVA, F = 4.56; P = 0.011) and trait anxiety (F = 4.21; P = 0.002). A significant difference between 1/1 and 2/2 genotypes has been also found for Neuroticism scores (EPI) (t = 2.18; P = 0.0031). No significant differences by 5HTR2A genotype were observed in either the control or first-degree relatives group for all scales studied. Positive, negative and psychopathological symptoms emerged higher in the 2/2 genotype patients compared to other genotype carriers. Therefore, the 2/2 genotype may contribute to produce the phenotype, with specific clinical and pathological features in common, regardless of nosologic heterogeneity of psychoses.

[Personality disorders diagnosed psychometrically in relatives of patients with schizophrenia and schizoaffective disorders]. / Psikhometricheski vyiavliaemye anomalii lichnosti u rodstvennikov bol'nykh shizofreniei i shizoaffektivnymi rasstroistsvami.

By means of MMPI test 287 healthy relatives of 159 patients with schizophrenia and schizoaffective disorders were examined. Anomalies of personality were found in 44% of 287 relatives examined, that did not differ significantly from the same index (36% of 179) in the control group of healthy individuals without any family history of mental diseases. A cluster analysis has revealed that anomalies of personality in the patients relatives can be divided into the next types: schizoid (15%), sociopathic (7%), masculine, superrational (5%) and neurotic (16%). In most of schizoid relatives anomalies of personality were reflected by the 2-7-8 profile of personality that differed them from schizoid personalities in control group. On the basis of both the results obtained and literature data it was suggested that together with the schizoid relatives, the relatives with sociopathic features should be included in the schizophrenic risk group, while anomalies of personality of both neurotic and superrational types were the reactions to the stress in families of the patients with schizophrenia.

[Serotonin type 2a (5-HTR2A) receptor gene polymorphism and personality traits in patients with endogenous psychoses]. / Geneticheskii polimorfizm serotoninovogo retseptora tipa 2a (5-HTR2A) i nekotorye osobennosti lichnosti bol'nykh éndogennymi psikhozami.

Genetic polymorphism of the serotonin receptor (5-HTR2A) gene has been reported to be associated with the expression of clinical signs characteristic of major psychoses, including schizophrenia and affective disorders. In this study, personality traits of patients with these diseases and the associations of these traits with 5-HTR2A allelic polymorphisms were studied. It was demonstrated that schizophrenic and affective patients with the 2/2 genotype of serotonin receptor had lower scores on the anxiety scale and on the anxiety-related hypochondriasis and neuroticism scales than subjects with the 1/1 and 1/2 genotypes.

[Serotonin receptor gene allele polymorphism (5HTR2A) and clinical pathogenetic characteristics in patients with schizophrenia and schizophrenia spectrum disorders]. / Allel'nyi poliforfizm gena serotoninovogo retseptora (5HTR2A) i kliniko-patogeneticheskie osobennosti bol'nykh shizofreniei i rasstroistvami shizofrenicheskogo spektra.

Serotonin receptor 5HTR2A gene polymorphism was reported to be associated with psychiatric disorders, in particular schizophrenia, in numerous studies. This study aimed to analyze a possible association between 5HTR2A gene polymorphism and clinical and pathogenetic characteristics in schizophrenia and schizophrenia spectrum disorders. We studied 209 individuals with schizophrenia and related disorders (107 male and 102 female, mean age 34.7 +/- 17.2 years) and 116 healthy controls (44 males, 72 females, mean age = 33.6 +/- 14.4 years). Diagnoses were made according diagnostic criteria of ICD-10. Positive and Negative Symptoms Scale (PANSS) assessed clinical symptoms. Significant difference (p < 0.01) was found for 5HTR2A genotype distribution between affected and control groups. The frequencies of genotypes A1A1, A1A2 and A2A2 for schizophrenia were 13.3%, 44.0% and 42.7%, respectively, versus 33%, 47% and 27% in controls. These results support the evidence for association between 5HTR2A A2A2 genotype and schizophrenia. Schizophrenics with A2A2 genotype were characterized by significantly higher mean values of the PANSS negative symptoms subscale than those with A1A1 genotype (22.6 vs 17.8; p < 0.05) and, consequently, by majority of deficit patients and patients with more severe forms of schizophrenia. Patients with A1A1 genotype were younger compare to those with A2A2 genotypes and had the least familial factors (35.7% vs 46.1%). In agreement with the results obtained in the study the 5HTR2A gene polymorphism appears to be considered as additional diagnostic or prognostic trait in the medical genetic studies of schizophrenia.

[Genetic analysis of anatomical and morphologic traits of the brain, determined by magnetic resonance imaging in families of schizophrenic patients]. / Geneticheskii analiz anatomo-morfologicheskikh priznakov golovnogo mozga, vyiavliaemykh s pomoshch'iu magnito-rezonansnogo issledovaniia v se'miakh bol'nykh shizofreniei.

Genetic analysis of clinical data and data obtained by magnetic resonance imaging (MRI) on 26 families of schizophrenic patients (26 probands who were patients with schizophrenia, 47 parents, and 15 siblings) revealed an enlargement of the ventricular brain system both in probands and their affected and healthy relatives. Most MRI parameters had high coefficients of inheritance and tended to be linked with positive and negative psychopathological symptoms. Our results confirm the hypothesis of genetic predisposition to the structural changes in the brains of schizophrenic patients and suggest that such MRI characteristics as the width of the anterior horn of the left lateral ventricle in the region of the caudate nucleus, the width of the central region of the left lateral ventricle, the width of the anterior horn of the right lateral ventricle in the region of the caudate nucleus, and the width of the central region of the right lateral ventricle may serve as a marker of predisposition to schizophrenia.

[Genetic-epidemiologic study of adenoma and cancer of the large intestine]. / Genetiko-épidemiologicheskoe issledovanie adenom i raka tolstoi kishki.

A clinical/genealogical study of colorectal adenomas (CRA) and cancer (CRC), and multiple primary malignant tumors (MPMT) was performed. The CRA prevalence in the population was 4.7 +/- 1.4% (single CRA--6.3% and multiple CRA--3.0%). The frequencies of malignant adenomas, 0.7% CRC, and MPMT were 0.7, 0.17 +/- 0.07%, and 0.004 +/- 0.003%, respectively. The prevalence of cancer of the female reproductive organs was also estimated (cancer of uterine body, 0.2 +/- 0.1%; cancer of ovaries, 0.08 +/- 0.1%; cancer of uterine cervix, 0.55 +/- 0.1%; cancer of mammary gland 0.57 +/- 0.1%). The main parameters of the familial inheritance of adenomas, CRC, and MPMT were also studied in general and at various clinical variants of these pathologies. Among the first-degree relatives of patients with solitary and multiple adenomas, the adenoma frequencies were 5.9 +/- 0.6 and 3.7 +/- 0.5%, respectively. The CRC frequency among the first-degree relatives of patients with adenoma was 3.0 +/- 0.6% and the frequency of MPMT was 5.8 +/- 0.6%. On the basis of the data obtained on frequencies of malignant tumors in various groups of relatives, the following conclusions were made: (1) in families of each proband group, specific pathology was accumulated; (2) the familial frequency of malignant tumors increased with an increase in proliferative processes and the severity of a pathology in probands.

[Segregation and genetic-dispersion analysis of predisposition to adenoma and cancer of the large intestine]. / Segregatsionnyi i genetiko-dispersionnyi analiz predraspolozhennosti k adenomam i raku tolstoi kishki.

Segregation analysis of inheritance of adenomas, colorectal cancer (CRC), and multiple primary malignant tumors (MPMT) revealed their low penetrance: from 3.2 to 29% for homozygotes and from 2.0 to 14.4% for heterozygotes. This cast a doubt on the monogenic type of their inheritance, although it formally corresponded to the quasidominant type, i.e., only a fraction of heterozygotes was expressed. Therefore, the multifactorial model of inheritance was tested, which seemed more adequate because genetic heterogeneity of adenomas, CRC, and MPMT was suggested from the data on genetic correlations between various clinical forms. Predisposition to various clinical forms of adenomas, CRC, and MPMT was shown to be specific, i.e., the ratio between genetic and environmental predisposition-determining factors reflected pathogenetic differences between these diseases. However, analysis of variance which revealed genetic (pathogenetic) distinctions between adenomas, CRC, and MPMT is insufficient to confirm complete nosologic identity of each of these clinical forms.

[Association of allele polymorphism of dopamine d2 receptors with schizophrenic and affective disorders]. / Assotsiatsiia allel'nogo polimorfizma dofaminovogo retseptora DRD2 s psikhicheskimi zabolevaniiami shizofrenicheskogo spektra i affektivnymi rasstroistvami.

DRD2 Taq polymorphism has been studied in the samples from 214 patients (119 males, 95 females, mean age 37.8 +/- 13.6) and of 96 controls (50 males, 46 females, mean age 40.7 +/- 20.0). The latter group comprised 75 unrelated controls and 21 healthy first degree relatives of schizophrenic patients. All the patients were diagnosed according to ICD-10 and have been divided into 4 groups: paranoid schizophrenics (n = 102), schizotypic patients (n = 25), patients with schizoaffective psychoses (n = 40) and affective disorders (n = 47). Taq1A DRD2 polymorphism was represented by 3 genotypes: A1A1, A1A2, A2A2 (allele A2 was a result of nucleotide substitution). The frequencies of genotypes in affected group didn't significantly differ from a control one. However, a frequency of A2A2 genotype (0.45) in a group of paranoid schizophrenics was significantly higher, than in the patients with schizoaffective psychoses (0.22) or in a control group (0.26), but was similar to that of the patients with schizotypic or affective disorders (0.4). A2A2 DRD2 genotype seems to be a potential genetic factor of susceptibility to schizophrenia.

[Linkage analysis of schizophrenia with markers of chromosomes 2 and 11 in russian families]. / Analiz stsepleniia shizofrenii s markerami khromosom 2 i 11 v russkikh sem'iakh.

Two molecular-genetic markers-H-ras and YNH24 (chromosome 2)-were tested for genetic linkage with schizophrenia in eight Russian families with different forms of the disease. Thirty-nine subjects, including 13 affected ones, were examined. Five alleles represented as DNA fragments from 2.4 to 4.0 kb in size were detected in DNA samples from probands and other family members when the H-ras probe and TagI restriction endonuclease were used. Eleven alleles were identified in hybridization experiments with YNH24 as a probe. Linkage tests between marker alleles and the schizophrenia predisposition gene were performed by means of the sib-pair method. Statistically significant evidence (5% significance level) for linkage between allele 2 of H-ras and the gene controlling predisposition to schizophrenia was found.

[The characteristics of the manifestation of extraversion and neuroticism in the families of schizophrenia patients]. / Osobennosti proiavleniia ékstraversii i nevrotizma v sem'iakh bol'nykh shizofreniei.

40 schizophrenic patients, their 40 healthy relatives as well as 40 healthy control individuals without any hereditary predisposition to mental disease were examined by means of H. Eysenck questionnaire according to Extraversion, Neuroticism and Lie scale. Schizophrenic patients had higher ratings on the Neuroticism scale while their relatives were more extraverted as compared with controls. Both the patients and their relatives had higher ratings on the Lie scale. Genetic mathematical analysis revealed that the hereditary contribution to determination of these signs did not exceed 4%. It was suggested that personal peculiarities have influence on the realization of hereditary predisposition and that the very peculiarities may be transformed under the influence of either this predisposition or disease.

[Current concepts of anticipation in endogenous psychoses]. / Sovremmennye predstavleniia ob antitsipatsii pri éndogennykh psikhozakh.

It has been recently discovered that anticipation may correlate with expansion of trinucleotide repeats in human genome. Therefore some diseases that show anticipation, such as bipolar affective disorders and schizophrenia, deserve to be studied. Anticipation used to be considered as a result of the onset age hereditability that may be described as a lineal decrease of the age of manifestation in the following generation. Positive assortative matings leading to genes predisposed to schizophrenia ascertainment as well might be responsible for earlier onset and disease severity in descendants (Shakhmatova-Pavlova et al., 1979; Trubnikov et al., 1978; Gindilis, 1979). Therefore, clinical genetic data are to be used as the basis for anticipation study. To exclude statistical artifacts, it seems necessary to study three generations in families and proband parent siblings as a control group. The phenomena of anticipation can be regarded as a special case when a relationship between clinical and molecular genetic traits is found. In a common case, trinucleotide expansion study on the basis of vast experimental clinical family material suppose to be sensible to elucidate the correlations between the clinical level of disease description and molecular genetic characteristics. Another approach to the problem is to ascertain special relative groups to compare with. For example, the concordant and discordant monozygotic tween pairs study also seems to be promising because the molecular genetic characteristic of genome instability may help in the elucidation of protection mechanisms that prevent disease manifestations.

[The genetic aspects of the neuropsychology of verbal memory in schizophrenia]. / Geneticheskie aspekty neiropsikhologii verbal'noi pamiati pri shizofrenii.

Genetic study methods were used while examining the families with schizophrenic patients to study the relationships between computerized tomographic and resting ECG parameters with memory for information, which differed in degrees and ways of organization. In patients, memory performance was affected both by genotype-controlled high-frequency alpha-rhythm subranges and by integral delta-rhythm values determined by environmental factors. A significant role of the right hemisphere was found for all forms of remembering. In a group of relatives, predictors of different memory forms differed in frequency and topographic characteristics to a greater degree. These predictors mainly included neuromorphological parameters and power values of alpha-rhythm ranges. Most predictors were under considerable genetic determination.

[Clinico-genetic aspects of cutaneous melanoma. II. Interconnection and pathogenetic commonality with dysplastic nevus syndrome]. / Kliniko-geneticheskie aspekty melanomy kozhi. II. Vzaimosviaz' i patogeneticheskaia obshchnost' melanomy kozhi s displasticheskimi nevusami.

Evidence for the role of dysplastic nevi (DN) in the development of cutaneous malignant melanoma (CMM) is presented. Primary multiple foci of CMM were found considerably more frequently in individuals with DN. The frequency of primary multiple CMM was found to be 3.1% in males with DN and 0.9% in males without DN; in females, 6.8 and 0.6%, respectively. Genetic correlation analysis was performed to determine the genetic interrelation between DN and CMM. In general, the genetic correlation coefficient was 0.9; i.e., predisposition to DN and CMM is determined by common genes for 90%. The frequency and distribution of constitutive fragile sites in chromosomes of peripheral lymphocytes was studied by the method of principal components for discrete variables. The site 1p22 is responsible for variability of the traits CMM and DN for 98.5%. On the one hand, this suggests that one of the supposed genes for CMM can be located at 1p22; on the other hand, CMM and DN are likely to have a common genetic determination or to be very tightly linked. Estimates of risk for the development of CMM in patients' relatives are given with reference to the variants of CMM manifestation and presence of DN.

[Inheritability of personality traits measured by MMPI in families of schizophrenic patients]. / Nasleduemost' lichnostnykh osobennostei, izmeriaemykh MMPI, v sem'iakh bol'nykh shizofreniei.

The results of genetic and mathematical analysis of MMPI-measured personality traits performed on material obtained 37 families of schizophrenia-afflicted probands were outlined. The results obtained suggest that heritability of traits in schizophrenic families is higher than in the general population. The discriminant function significantly differentiating between schizophrenics' and healthy people's relatives and having high heritability was calculated.