Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case Report.

Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder that occurs due to a deficiency of a β hexosaminidase A (HexA) enzyme, resulting in the accumulation of GM gangliosides. In this work, we analyzed the effect of umbilical cord blood cell transplantation (UCBCT) and curcumin administration on the course of the disease in a patient with adult TSD. The patient's serum cytokine profile was determined using multiplex analysis.

Primary Immunodeficiencies in Russia: Data From the National Registry.

Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID).

ACE phenotyping in Gaucher disease.

Background: Gaucher disease is characterized by the activation of splenic and hepatic macrophages, accompanied by dramatically increased levels of angiotensin-converting enzyme (ACE). To evaluate the source of the elevated blood ACE, we performed complete ACE phenotyping using blood, spleen and liver samples from patients with Gaucher disease and controls.

Methods: ACE phenotyping included 1) immunohistochemical staining for ACE; 2) measuring ACE activity with two substrates (HHL and ZPHL); 3) calculating the ratio of the rates of substrate hydrolysis (ZPHL/HHL ratio); 4) assessing the conformational fingerprint of ACE by evaluating the pattern of binding of monoclonal antibodies to 16 different ACE epitopes.

[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].

Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid beta-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report here the results of the molecular-genetic analysis in 68 Russian GD patients from 65 families with the three types of the disease.

[Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].

A biochemical study of three patients with clinical symptoms of Gaucher disease was carried out. Two of them had a significant deficiency of beta-glucocerebrosidase activity (a primary enzyme defect) in leukocytes and an enormous increasing of chitotriosidase activity in blood plasma that confirmed the diagnosis of Gaucher disease. Some differences in stability of mutant enzymes were found in these two cases.

[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.

[Laser therapy in a comprehensive treatment of patients with gastroduodenal ulcers].

Long-term scarring and frequently recurrent ulcers are often found in patients with concomitant diseases such as ischemic heart disease or diabetes mellitus. Laser therapy may be a good alternative in such patients. Gastroduodenal ulcer sites were exposed to laser radiation (He-Ne and AG lasers ATOLL, VITA-01) in 182 patients.

[The use of the orthostatic test in practical medical flight expertise in civil aviation].

Comparison of results from HDT administered with different techniques showed that 5-10 min in vertical position are enough to adequately evaluate mechanisms of circulation control. By that time hemodynamic shifts get stabilized. More precise assessment of the circulation regulation can be made when HDT is administered from initial supine rather than sitting position.

[Reorganization of skin scars on the back of rats].

The method of dosed mechanical injuries (DMI) when applied repeatedly to the mature skin scars in the rat's backs leads to their reduction and transformation into the regenerates having the structure resembling that of the normal skin. The more is the number of applications of DMI--the more is the amount of transformed scars.

[The role of occupational and social stress in the development of non-ischemic arrhythmia in pilots].

In the absence of coronary heart disease and ischemic responses to exercise, many highly skilled pilots have been shown to have arrhythmias of non-ischemic origin. The occupational stress-exercise on a flight trainer reveals such arrhythmias much more frequently than bicycle ergometric exercise. Under social stress, namely during medical- and flying examination which decides if a pilot is professionally fit, 24-hour monitoring in the out- and inpatient settings detects premature+ ventricular contractions of non-ischemic origin in high-grade pilots; the contractions regularly decreasing or ceasing during a true flight.

[Reorganization of regenerates of the dermal type in rats].

Skin regenerates being formed on the stomach of rats were exposed to dosed injuries by needles. These injuries have significantly hastened formation of definitive regenerates.

[A coagglutination method in the identification of Bordetella genus microbes].

Trials of the coagglutination test for the identification of Bordetella bacteria and for the detection of B. pertussis in the material from healthy and sick children have demonstrated the possibility of using this test for the detection of B. pertussis in mixed cultures on the third day after preliminary inoculation in the growth medium (casein-coal agar) and as a test for the differentiation between B.

[The possible effect of the mechanical factor on the completeness of the regeneration of the spinal skin in mice].

In mouse tissues, regenerates forming in the place of full-thickness skin wounds on the back, were exposed to dosed mechanical injuries. As a result the structure of final regenerates in some animals differed from the scar, that is usually formed after healing of this type of wound.

[Healing of abdominal skin wounds in rats].

The studies performed on rats have shown that healing of square full-tissue skin wounds depends on their location. Thus, the healing of wounds on the belly was faster and more complete than that of dorsally located ones. Regeneration of belly skin resulted in the formation of new tissue with a typical network of fibers and skin folds.

[Interrelations of lysosomal enzymes of leukocytes in patients with cicatricial stenosis of the larynx].

Activities of acid and alkaline phosphatases, cathepsin B, leucine aminopeptidase, N-acetyl-beta-D-hexosaminidases, beta-D-galactosidase and beta-D-glucuronidase were studied in leukocytes of two groups of patients with normal and pathological healing of wounds after surgical treatment of scar stenosis of larynx. Analysis of the enzymatic activity, calculated by means of Student's test using the data of a single estimation of the activity in leukocytes before surgical treatment, did not exhibit any distinct differences in these two groups of patients. The study of interrelationship between the activities of individual enzymes by means of principles of regression analysis enabled to show that the enzymes studied were in the positive regressive relation.