Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole-exome sequencing. A heterozygous amino-acid substitution p.L519R in a PHACTR1 gene was identified.

[Human adaptive phenotypes in physiology and medicine].

The study of pathological and physiological features associated with genetic syndromes has gained increasing momentum over the past two decades. In this paper, the definition of adaptive phenotypes is presented and the complexities and obstacles to progress in this field are summarized. This is a problem of general biology and is related to genetic specificity of every organism.

[Genetic aspects of congenital pathology of the larynx and trachea].

Medical-genetic examination covered 24 families of patients with congenital defects of the larynx and trachea. These developmental defects can be attributed to multiple unestablished defects (66.7%) or can be part of some congenital-hereditary syndromes (25%) such as chromosomal, genetic, teratogenic, of unknown etiology.

EEG mapping in children with different dermatoglyphic patterns.

This study is an attempt to analyze the relationships between EEG and dermatoglyphic patterns (DP) in 6-8 years girls. EEG-mapping was carried out in 80 healthy girls with different types of DP in 6 frequency band: delta, theta, alpha-1, alpha-2, alpha-3 and beta. Certain connection of the palmar and finger patterns with the EEG characteristics was revealed.

Williams syndrome as a model of genetically determined right-hemisphere dominance.

Studies were carried out on the dermatoglyphics (skin ridge marks) on the hands of children with Williams syndrome; this is an inherited disease with cardiovascular pathology and a characteristic facial phenotype ("elf" facies), along with specific mental and cognitive disturbances. The results suggest a characteristic dermatoglyphic type with the presence of complex whorls on the fingers and a clear predominance of marks of greater complexity on the left hand; this is a very rare trait in normal people and in those with other inherited nervous system disorders. The features of the dermatoglyphic pattern serve as a characteristic marker of a genetically determined state of the human central nervous system, and suggests directions for neurophysiological studies of children with Williams syndrome as a unique model for analysis of higher nervous function in humans.

[Williams syndrome--a model of genetically determined right hemispheric dominance].

Dermatoglyphic studies showed that children with the Williams syndrome had certain peculiarities of morphological as well as behavioral character. The findings suggest that the syndrome can be regarded as a genetical model of the right brain dominance.

[The C heterochromatin of chromosomes 1, 9, 16 and Y in patients with Noonan's syndrome].

A significant reduction in the total amount of C heterochromatin of chromosomes 1, 9, 16, and Y was detected in six patients with Noonan's syndrome. The results obtained do not contradict the results of our previous investigations of the correlation between a small amount of C heterochromatin and growth retardation. The clinical resemblance of Noonan's and Turner's syndromes with respect to the functional role of facultative and constitutive heterochromatin in early embryogenesis is discussed.

[A cytogenetic study of the functions of the variable regions in human C heterochromatin. III. The relationship between the amount of C heterochromatin and the occurrence of the fetal alcohol syndrome].

It has been shown elsewhere that in children with growth retardation and gene syndromes (Russell-Silver, Dubowitz etc.), and in healthy children with inherited short stature the total amount of C heterochromatin in chromosomes 1, 9, and 16 was reduced as compared to the control. A correlation between the C heterochromatin reduction and the intrauterine growth retardation was suggested.

[A cytogenetic study of the functions of the variable regions in human C heterochromatin. II. C heterochromatin in families with hereditary short stature].

The C heterochromatin in chromosomes 1, 9, 16, and Y was studied for 12 families of patients with inherited short stature. A comparison of the results of cytogenetic and genealogical analysis has revealed a correlation between the growth retardation in children and the short stature in parents, and the accumulation of the small C segment in chromosomes 1, 9, and 16 in their karyotypes. These data are entirely consistent with our results obtained for the families having children with gene syndromes (Russell-Silver, Dubowitz etc.

[A cytogenetic study of the functions of the variable regions in human C heterochromatin. I. The effect of C heterochromatin on gene expression].

In our previous studies we have demonstrated that the degree of the growth retardation shows a positive correlation with the reduction of C heterochromatin in chromosomes 1, 9, and 16 in patients with embryopathies of unknown etiology and in children with trisomy 21. The investigation of C heterochromatin in these chromosomes in patients with obligate growth retardation and gene syndromes with a postulated Mendelian inheritance (Russell-Silver, Dubowitz etc.) has revealed a reduced C heterochromatin amount.

[Detection of chromosomal abnormalities using cordocentesis].

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum.

[Genetic aspects of man's adaptation to long-term space flight].

Human genetics may play an important role in medical support of prolonged space flights, which raise serious life sciences questions: what is a normal response or, more specifically, what is norm or pathology. This is a problem of general biology and is related to genetic specificity of every organism. The theoretical basis of pertinent researches is general genetics and cytogenetics with their concepts about the structure and function of the eukaryotic genome.

[Effect of therapy with beta-adrenoblockers and vitamin complexes on indices of oxyproline excretion in various hereditary connective tissue diseases].

Excretion of hydroxyproline with urine was studied in 16 children (5-14 years old) with Marphan-Like syndrome and Marphan, Ehlers-Dunlos and Larson syndromes after therapy involving propranolol and a complex of vitamins (ascorbic acid, riboflavin and pyridoxine) and recommended on the basis of echocardiographic analyses. The therapeutic course appears to cause quantitative and qualitative correction of collagen and apparently of elastin fibrilles development. Depending on initial patterns of hydroxyproline excretion and the syndrome form the correction could be complete or partial, while positive effect of the treatment was stable or provisional.

[Generalized tic (Gilles de la Tourette's syndrome) in twins].

Two pairs of monozygotic twins with tic hyperkinesis are described. One pair manifested a clinical picture of generalized tic (Gilles de la Tourette's disease), the other generalized and local tic. These observations may point to an involvement of hereditary factors in the genesis of generalized tic and to the similarity of the pathogenetic mechanisms of local and generalized tics.