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K D Krasnopol'skaia

Publications and source records attributed to K D Krasnopol'skaia.

At least 19 recordsLinked to original sources
PubMed2000

[Information and retrieval diagnostic system for inherited metabolic diseases].

The paper analyzes a procedure for construction and practical use of an information and retrieval diagnostic system (IRDS) for inherited metabolic diseases (IMD) in the context of an automatic working place for consulting genetics. An IRDS structure for IMD is proposed, which involves the following functional elements: 1) a genetic register; 2) an inherited metabolic disease database (IMDD); 3) a special module for searching for the probable range of diagnoses; 4) an archive; 5) a special model for statistical analysis of the clinical polymorphism of IMD. The full insight into each nosological entity (n = 316) as part of IMD IRDS is gained by using a set of catalogues, such as a catalogue IMD classes (n = 22), that of IMD clinical symptoms and signs (n = 1215); that of IMD biochemical markers (n = 934); a list of all symptoms and signs for each nosological entity; that of major diagnostic signs for each nosological entity. The clinical picture is described within the framework of the unified structure that includes the following set of items: the textual description of the clinical picture of a disease in terms of major diagnostic signs, etiology, genetics, pathogenesis, a biochemical phenotype, paraclinical studies, differential diagnosis, treatment, and prevention. The system is provided with a simple and user-friendly interface that allows a user to have a prompt look at the data pertaining to each nosological entity, to find required references by employing multiple keys of data search, sort, and printing.

Diagnosis, Computer-Assisted↗
PubMed2000

[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].

Molecular genetic analysis of the gene for arylsulfatase B (ASB) was conducted in ten Russian patients with type VI mucopolysaccharidosis (MPS VI) of different severity. Eight exons from the translated region of the ASB gene of each patient were amplified and sequenced using the nonradioactive method. Fourteen mutant alleles were identified in the sample studied by means of DNA analysis; 13 of them had not been described before. All patients except for one, who was an offspring of a consanguineous marriage, were genetic compounds with respect to the mutations found. Polymorphic sites A/G 1072 and A/G 1126, which were earlier revealed in exon 5 of the ASB gene, were found in five out of ten patients studied. The spectrum of mutant alleles of the ASB gene was highly specific and agreed with the characteristics of the population genetic load.

Base Sequence↗
PubMed1999

[Program for diagnosis and prevention of inherited metabolic diseases of cellular organelles].

A programme for diagnosis and prevention of lysosomal, peroxisomal, and mitochondrial [respiratory chain diseases (RCD)] diseases was developed on clinical, biochemical, and molecular approaches. The authors made postnatal diagnosis was made in 674 patients from 516 families and prenatal diagnosis in 124 fetuses in 94 families at risk. DNA analysis of mutant alleles in the mucopolysaccharidoses (MPS) I, II, and VI revealed 14, 13, and 4 new mutant alleles in IDS, ASB, IDUA genes, respectively. The pressure of a mutation process played a major role in the distribution of mutant alleles leading to MPS I and VI, but along with this factor genetic drift and migration undoubtedly influenced the observed spectrum of IDUA alleles in Russia. A clinical phenotype of patients with different MPS was analyzed on the basis of uniform registration of 167 symptoms and signs in 249 patients. Special statistical approaches were developed to characterize early manifestations of different MPS and "unique" signs and symptoms for many of them and "phenotypic distances" between them. The similar problems were solved for RCD through uniform registration of 110 symptoms and signs in 54 patients with different syndromes: pathognomonic symptoms for the whole RCD and "unique" symptoms for syndromes were defined.

DNA Mutational Analysis↗
PubMed1996

[Monogenic hereditary diseases in Gorno-Mariĭskiĭ district of Mariĭ El republic].

The population of Gornomariiskii raion, Marii El Republic, primarily made up of mountain Marii, was subjected to medical genetic examination. The size of the entire population is 54853. Estimates of hereditary pathology in urban and rural populations of the raion were obtained. They were 0.68 and 1.11, respectively, for autosomal dominant pathology (AD); 0.55 and 0.81 for autosomal recessive pathology (AR); and 0.45 and 0.20 for X-linked pathology. Twenty-two, 25, and six nosologic forms of autosomal dominant, autosomal recessive, and X-linked diseases were revealed, respectively. We attempted to compare the sample under consideration with previously studied Russian and Finnish populations for rare pathologic recessive genes.

Ethnicity↗
PubMed1995

[The first experience in Russia of using DNA diagnosis in Alport's syndrome in a family with a unique morphological picture of the kidney lesion].

Clinicomorphological findings are reported for two children from families with hereditary predisposition to hematuria characterized by early occurrence of chronic renal insufficiency, neurosensory hypoacusis, congenital ocular abnormalities inherited by sex-linked dominant type. Light microscopy of nephrobiopsies revealed diffuse mesangial proliferation in both children. Final diagnosis of Alport's syndrome was feasible only on molecular-genetic level after polymerase chain reactions had identified mutation in collagen type 4 alpha-5-chain gene on a long arm of X-chromosome in genotypes of both patients and their mothers. Genetical, clinical, morphological, evolutional and diagnostic aspects of Alport's syndrome are reviewed.

Adolescent↗
PubMed1994

[Use of an information-search diagnostic system for recognizing acute hereditary metabolic diseases with early lethal outcomes].

An information retrieval diagnostic system for hereditary metabolic diseases that are characterized by acute progression and early fatal outcome was developed. The system includes four databases: a list of nosological forms (n = 152), a list of clinical symptoms and characteristics (n = 1094), clinical portraits of every disease, and a list of biochemical characteristics (n = 1072). The system describes each disease as follows: clinical phenotype, etiology, genetics, pathogenesis, biochemical phenotype, paraclinical investigations, differential diagnosis, treatment, and prevention.

Acute Disease↗
PubMed1994

[Biochemical genetics of peroxisomal disorders].

This review is the first one dealing specifically with a class of peroxisomal disorders that remain virtually unfamiliar to Russian medical genetic consultants and pediatricians. Data are presented that concern classification, genetics, characterization of clinical and biochemical phenotype, prevention, and therapy of 18 nosological units included in the class of peroxisomal disorders. Problems of general biological significance are reviewed, which can be solved using peroxisomal disorders as a valuable experimental model.

Animals↗
PubMed1993

[The determination of fragments of the N-terminal propeptide of collagen type III in human blood serum by sandwich immunoenzyme solid-phase analysis].

Solid-phase sandwich enzyme immunoassay has been developed to determine Col1+Col2 fragments of a N-terminal propeptide of Type III collagen in human serum, using polyclonal antibodies. The procedure allows one to obtain a sensitivity of 0.5 ng of native antigen and a linearity in the range of 0.5 = 50 ng of native antigen per ml. The intra- and interassay variation coefficients were less than 2.5 and 22.6%, respectively, in the linear part of the curve. Measurement of Col1+Col2 fragments in the serum of 97 normal subjects of different ages has revealed significantly higher levels of antigen in the serum of children under 3 years of age than in that of adult subjects (p < 0.05).

Adolescent↗
PubMed1993

[Analysis of hydroxypyridine cross-links of collagen from human rib cartilage].

Ion-paired reversed-phase high performance liquid chromatography (HPLC) has been used for the analysis of the content of mature collagen crosslinks--hydroxylysylpyridinoline (HP) and lysylpyridinoline (LP) in biopsy specimens of human rib cartilage from healthy donors (n = 14) and patients with inherited diseases of the connective tissue complicated with funnel chest (n = 17). Analysis of normal tissues reveal the presence of LP (alongside with HP) in embryonal rib cartilage. LP has been found in the rib cartilage of 4 out of 6 patients with funnel chest (FC) associated with Ehlers-Danlos syndrome (EDS); with no signs of this pathology detected in individuals with isolated FC. In rib cartilage of 2 patients with recurrent isolated FC LP has been discovered alongside with the presence of type I collagen. A significant increase of LP content in rib cartilage in a child with clinical phenotype of EDS type VI has been discovered.

Adolescent↗
PubMed1992

[A program of prevention of hereditary lysosomal diseases in the USSR].

The organization of genetic counselling for the families of patients with lysosomal storage diseases (LSD) was based on the interaction of the genetic counselling units of this country with a laboratory of inherited metabolic diseases of the National Research Center of Medical Genetics, USSR AMS. All the patients from 705 families at risk were examined using biochemical techniques and methods of somatic cell genetics. In total the loci differentiation was performed for 309 patients with mucopolysaccharidoses, glycoproteinoses, mucolipidoses, sphingolipidoses and other LSD. 53 families at risk (of 277) were prenatally diagnosed. 66 fetuses were diagnosed for mucopolysaccharidoses, type I, II, III, A and B, VI, Tay-Sachs disease, Sandhoff's disease, GM1-gangliosidosis, metachromatic leukodystrophy, mannosidosis, and multiple sulfatidosis. In total 18 affected fetuses were diagnosed and aborted. All the prenatal diagnoses were verified. The prevalence of mucopolysaccharidoses in two Central Asian republics was evaluated as 1:15,000. An Uneven ethnic distribution of different mucopolysaccharides in the USSR has also been shown.

Female↗
PubMed1990

[Isolation and characteristics of hexosaminidase A and activator protein from human kidney].

Hexosaminidase A (HA) was isolated from human kidney and purified to an electrophoretically homogeneous state. The purification procedure included ion-exchange chromatography on DEAE-cellulose, gel filtration on Toyopearl HW-55 and chromatofocusing on PBE 94 (enzyme yield 26.6%, 1133.6-fold purification). The physico-chemical and kinetic properties of HA are as follows: Mr of the purified enzyme is approximately 100,000; Km for 4-methylumbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside is 0.6 mM; pH optimum is at pH 4.4-4.6; pI is 5.0. The amino acid composition of the purified enzyme was determined. A specific anti-HA antiserum was raised, which did not immunoprecipitate with fibroblast extracts characterized by a mutational blockade of HA synthesis. GM2 was isolated and purified from murine liver as well as from the brain of a female patient who died of Tay-Sachs disease. The label was introduced by way of treatment of GM2 with tritiated acetic anhydride. The specific radioactivity of [3H]GM2 was 521 and 2065 Ci/M, respectively. The label was introduced into the N-acetylneuraminic acid and GalNAc residues of these GM2 preparations. An activator protein capable of solubilizing the natural substrate of HA was isolated from human kidney and partially purified (with a 19.9% yield and 480-fold purification). The Mr of the purified activator protein was approximately 21,000. Purified HA hydrolyzed [3H]GM2 only in the presence of the activator protein. An addition of the activator to the incubation medium containing normal fibroblast culture extracts and [3H]GM2 caused an increase in the rate of substrate hydrolysis, tenfold, on the average.

Amino Acids↗
PubMed1989

[Study of the genetic heterogeneity of gangliosidoses in humans].

A study of genetic heterogeneity of GM1 and GM2 gangliosidoses was performed using a wide set of cultured fibroblast lines of patients with leukodystrophies. In addition to commonly used methods for enzyme diagnosis and for isozyme fractionating, following assays were developed for locus and allele differentiation: loading tests with 3H-GM1 and 3H-GM2, analytical chromatofocusing and activity determination of activator protein for GM2.

Alleles↗
PubMed1986

[Collagen proteins of human hyaline cartilage in normal states and in various bone dysplasias].

Using SDS electrophoresis and subsequent densitometry, isolated collagen proteins of infantile rib and knee joint hyaline cartilage were characterized. Both the normal samples and hyaline cartilages of children with osteochondrodysplasias were shown to contain collagens type I and II as well as collagen proteins with Mr 160 (A), 150 (B), 140 (C), 120 (D), 110 (E) and 39 kD (F), whose content in normal samples varied, depending on the donor age. An analysis of normal and pathological samples revealed the following biochemical markers of intensive chondrocyte proliferation: an increased content of collagen proteins A--F and a decreased number of intramolecular cross-links of collagen type II. Conversely, the increased number of intramolecular cross-links in collagen type II and the elevation of the relative content of collagen type I in lethal forms of osteochondrodysplasias and funnel chest may testify to chondrocyte dedifferentiation. It was assumed that collagen proteins D and E correspond to proteins 1 alpha and 2 alpha, whereas proteins A, B, C and F are the products of hydrolysis by pepsin type M of collagen detected previously only in animal cartilages. Mapping of collagen type II CNBr-peptides and electron microscopic analysis of its SLS-form were carried out. The experimental results are suggestive of the involvement of collagen proteins in the pathogenesis of human osteochondridysplasias as well as of the pronounced biochemical heterogeneity of the disease.

Cartilage↗
PubMed1986

[Medico-genetic study of the population of Uzbekistan. VII. Variability of hereditary pathology in 4 regions of Khorezm province].

Medical-genetic study was carried out in the population of Khorezm province (population size above 200 000 persons). Hereditary pathology was ascertained among families having two or more members affected with chronic non-infectious diseases. 155 families with 348 members affected with hereditary diseases were registered. The most frequent were autosomal recessive diseases (55 nosological forms in 104 families with 271 affected), then followed the autosomal dominant conditions (10 nosological forms in 21 families with 53 affected). The less frequent was X-linked recessive pathology (6 forms in 12 families with 20 affected). The main part of cases of autosomal recessive pathology were found in separate families and were not observed during previous medical-genetic studies in Uzbekistan. Three autosomal recessive conditions are probably new forms of hereditary pathology. The important role of assortative matings in manifestation of rare autosomal recessive genes in Uzbek population is discussed.

Consanguinity↗