[General principles of treatment of mine-explosive wounds of ENT-organs].

The relevance of diagnosis and treatment of mine-explosive wounds ENT high. Treatment of explosives, Russian Academy of Sciences-the challenge and consists of a series of sequential steps that need to be applied, taking into account all the particularities of each injury. Concepts of specialized surgical care of the wounded are formulated.

[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].

Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease, caused by partial deficiency of porphobilinogen deaminase (PBGD), one of the key enzymes ofheme biosynthesis. This study describes molecular genetics of AIP in Russia. Mutation analysis of PBGD gene in 70 unrelated patients revealed 47 various genetic defects, 28 of which had not been described previously.

[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries].

Aim: To analyse manifestations and experience in primary screening diagnosis of acute porphyrias which are rarely encountered and little known by general practitioners.

Material And Methods: The data on 100 patients with the diagnosis acute porphyria have been analysed. Porphyrin metabolism in differential diagnosis was estimated according to standard techniques.

[New efficient extragenic microsatellite markers for hemophilia A carrier state diagnostics].

In search of new efficient markers for genetic diagnostics of hemophilia A, two tri-nucleotide microsatellite repeats (STR) at chromosome X loci, which flank coagulation factor VIII gene (F8), namely STR HA472--CTT-repeat, which is localized adjacent to the GAB3 gene 163 bp apart from the 3' end of the F8 gene and STR HA544--repeat (CTT)x(ATT)y located at a distance of 375 bp from the 5' end of the F8 gene were discovered. Detailed analysis using PCR and sequencing has shown that STR HA472 contains two long variable CTT-blocks separated by small spacer CCTCCC. The location of recognition site of restriction endonuclease Mnl1 (CCTC) in the spacer permits to test differentially the polymorphic blocks and thus to increase the analysis informativity.

[Analysis of the AluI polymorphism in intron 1 of the human coagulation factor VIII gene: a new marker for the hemophilia A carrier detection].

Frequencies of the CIT SNP alleles at position 2403 of the human coagulation factor VIII gene intron 1, containing the AluI restriction endonuclease recognition site, were examined. Genomic DNA samples for the analysis were obtained from the consulted women and their relatives from the families with hemophilia A. A total of 221 unrelated X chromosomes were studied.

[Ileoascendoanastomosis].

A complex anatomical investigation of the extra- and intra-organic vessels of the ascending colon has shown that the formation of ileoascendoanastomosis is possible and expedient without a preliminary intraoperative assessment of the vascular bed. The indications to such operation are developed. The extirpation of the blind gut and resection of the ascending colon with applying the anastomosis in question was performed on 6 patients with carcinoma of the blind gut and ascending colon.

[Clinical manifestations of porphyrin metabolism disorders].

Aim: To characterize patients with various nosological unities [symbol: see text] of porphyria in accordance with their age, clinical symptoms, provoking factors, therapy and outcome.

Material And Methods: Patients with acute intermittent porphyria (43), hereditary coproporphyria (8), variegate porphyria (3), porphyria cutanea tarda (7), hepatoerythropoietic porphyria (1), and hereditary erythropoietic porphyria (2) were studied. One patient was suspected of porphyria caused by deficiency of delta-aminolevulenic acid dehydrogenase.

[Use of electroacupuncture in the treatment of vibration diseases].

Vibration is known to adversely affect the nervous, cardiovascular and muscular systems, which feature is most liable to lead to decrement of performance. Employed in former times in dealing with the above affections was a complex medicamentous mode of treatment involving the use of vasoactive agents, sympatho- and cholinolytics, neuroplegic agents, physiotherapeutic and sanatorium-and-health resort methods, and other therapeutic modalities. There has been studied efficiency of use of electroacupuncture versus a complex medicamentous therapy in patients presenting with vibration disease.

[Study of hybridization in four species of ground squirrels (spermophilus: Rodentia, Sciuridae) by molecular genetic methods].

Four species of ground squirrel--yellow (Spermophilus fulvus), russet (S. major), small (S. pygmaeus), and spotted (S.

[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].

Porphobilinogen deaminase (PBGD) is a key enzyme of the heme biosynthetic pathway. Defects in the PBGD gene lead to an autosomal dominant disease, acute intermittent porphyria (AIP). Almost all AIP patients with rare exceptions are heterozygous for the defective gene.

[The effect of chronic x-ray radiation at low doses on the gamma-glutamyl transpeptidase activity in rat organs and tissues].

Effect of chronic low dose X-ray irradiation (total doses of 2.58, 5.16, 6.

[Polymorphism at codon 117 of the granulocyte-macrophage colony-stimulating factor (GM-CSF) gene].

A T-to-C substitution, replacing a hydrophobic isoleucine residue with a hydrophilic threonine residue in position 100 of a mature protein molecule, was found at codon 117 of the GM-CSF gene. The mutation frequencies were estimated in 51 DNA samples from healthy adult donors and also in 20 samples from patients with different neoplastic myeloid disorders. Almost equal substitution frequencies in patients and normal individuals were observed, suggesting that the defect was not associated with leukemia.

[New polymorphic variants of the gene for human blood coagulation factor IX].

The polymorphism of Alu-repeats, which are located in the introns of the human factor IX gene (copies 1-3), was studied. To identify polymorphic variants, direct sequencing of PCR products that contained appropriate repeats was used. In each case, 20 unrelated X chromosomes were studied.

[Clinical and diagnostic problems in angiomyolipoma of the kidney].

29 cases of angiomyolipoma (AML) reported in the paper illustrate clinical pictures and difficulties in this disease diagnosis. It is shown that when AML overgrows 5 cm in size it often provokes pain (13 cases), which ranks the first among AML symptoms. Ultrasonic differential diagnosis is not easy in large bleeding AML, in extrarenal AML location, whereas well and poorly vascularized tumors, the absence in them of clear-cut spiral arteries or aneurysm-like cavities cause much trouble for AML angiographic diagnosis.

[The glutathione content and glutathione-S-transferase activity in the organs and blood of rats following chronic irradiation at low doses].

The effect of chronic low dose-rate irradiation with X-rays up to total doses of 2.58, 5.16, 6.

[A new polymorphism in the human factor IX gene, useful for determining carriers of hemophilia B].

A new Taq I polymorphism in Alu repeat 4 of the human factor IX gene is reported. This polymorphism is associated with a C-T transition at the 72-bp position of the Alu repeat consensus sequence. A simple PCR system for testing of this structural anomaly, with internal control of restriction hydrolysis, was developed.

[Spectrum of DNA haplotypes and beta-thalassemia mutations linked with them in the Azerbaijan Republic].

Haplotyping of the beta-globin gene cluster was performed on DNA samples from 110 Azerbaidzhanian beta-thalassemic patients and their families. During this study, we found 18 different haplotypes and determined the frequency of their occurrence. Nine of these haplotypes have never been observed earlier in the studied population.

[Use of the polymerase chain reaction to detect beta-thalassemia mutations in heterozygous carriers from Azerbaijan while performing prenatal DNA-diagnosis].

Prenatal DNA-diagnosis of beta-thalassemia in a family from Azerbaijan revealed two mutations new for this region--G-A transition at codon 15 and G-C transversion at position 5 of the intron 1. Prenatal diagnosis was carried out by direct sequencing of in vitro amplified (PCR) beta-globin gene fragments with a modified Sanger technique using thermostable DNA polymerase. The absence of parents mutations in the fetal DNA allowed us to conclude that the fetus is normal.

[A PCR-system of analyzing polymorphic markers in gamma-A and gamma-G globin genes and gene for human blood coagulation factor IX with an internal control of the completeness of restriction hydrolysis].

New systems are proposed for the PCR analysis of HindIII polymorphic sites in the gamma A and gamma G globin genes and of TaqI polymorphic site in the human factor IX gene of blood population. DNA fragments amplified according to the systems described contain constant restriction site of the appropriate endonuclease, in addition to the polymorphic one, which significantly improves the reliability of the RELP analysis. The systems proposed are highly specific and may be used for DNA diagnosis of beta-thalassemia and haemophilia B.

[A case of prenatal diagnosis of beta-thalassemia by polymerase chain reaction].

The prenatal diagnosis of beta-thalassemia in the Udin family, where the parents were the carriers of 2 bp deletion in the codon 8 (-AA) was undertaken using PCR. Five polymorphic restriction endonuclease sites in the beta-globin gene region were tested. They are: 2 HindIII sites in the gamma G and gamma A genes, 2 HincII sites located in the pseudogene and in its 3'-flanking region, and the AvaIII site in the second exon of the beta-globin gene.

[Molecular nature of beta-thalassemia in Tajikistan: a four base pair deletion in codons 41-42 of the beta-globin gene].

Thirty tajiks, whose relatives had beta-thalassemia traits (revealed in previous investigations by determination of the HbA-2 and HbF levels) were selected to screen beta-thalassemia mutations. DNA samples from each individual were subjected to the PCR (polymerase chain reaction) to amplify the 635 bp beta-globin gene fragment. One additional band was detected in three samples after the amplified fragment underwent electrophoresis in 2% agarose gel and the EtBr was stained, and two additional ones were revealed by 6% PAAGE and staining of the EtBr.

[DNA diagnosis of beta-thalassemia. Study of restriction fragment length polymorphisms in families with affected children].

A kit of DNA-probes directed at the cluster of human beta-globulin genes was used to study the incidence rate of 7 polymorphic restriction sites in beta-thalassemia patients and normal donors in the Azerbaijan SSR. Informative polymorphic sites Hind III were detected in GJ and AJ fetal globin genes, Hinc II in psi beta and Hinc III in 3' area of psi beta gene and Ava II in beta-globine gene differing in the incidence rate in the patients and donors. An analysis of haplotypes with respect to informative sites was made in two Azerbaijan families with an affected child.

[Laser therapy in dust bronchitis].

Laser therapies of 43 dust bronchitis patients (4 cases in 1st stage and 39 cases in 2nd stage) were performed in comparison with routine therapeutic procedures of 28 patients (6 cases in 1st stage and 22 cases in 2nd stage). 14 acupuncture points were selected. A good therapeutic effect was attained in 16.

[The role of x-ray diagnosis in preventing odontogenic mediastinitis].

A method of roentgen diagnostics for patients with phlegmons of the maxillofacial area with suspicion of spread of pyo-inflammatory processes into the fat space of the neck is proposed which consists of radiographic survey of the neck with soft rays in two (direct and lateral) projections. The timely diagnosis of spread of pyo-inflammatory processes into the fat space of the neck allows to make necessary corrections in the plan of treatment.