The Minor Variant of the Single-Nucleotide Polymorphism rs3753381 Affects the Activity of a SLAMF1 Enhancer.

The SLAMF1 gene encodes CD150, a transmembrane glycoprotein expressed on the surface of T and B-lymphocytes, NK-cells, dendritic cells, and subpopulations of macrophages and basophils. We investigated the functional regulatory polymorphisms of the SLAMF1 locus associated with autoimmune processes, using bioinformatics and a mutational analysis of the regulatory elements overlapping with polymorphic positions. In the reporter gene assay in MP-1 and Raji B-cell lines, the enhancer activity of the regulatory region of the locus containing the rs3753381 polymorphism demonstrated a twofold increase upon the introduction of the rs3753381 minor variant (G → A) associated with myasthenia gravis. An analysis of the nucleotide context in the vicinity of rs3753381 revealed that the minor version of this polymorphism improves several binding sites for the transcription factors of FOX and NFAT, and RXR nuclear receptors. All mutations that disrupt any of these sites lead to a decrease in the enhancer activity both in MP1 and in Raji cells, and each of the two B-cell lines expresses a specific set of these factors. Thus, the minor variant of the rs3753381 polymorphism may contribute to the development of myasthenia gravis by modulating SLAMF1 expression, presumably in pathogenic B-lymphocytes.

The effect of Russian Maternity Home routines on breastfeeding and neonatal weight loss with special reference to swaddling.

BACKGROUND: Few investigations have considered evaluating the effects of certain combinations of ward routines like swaddling of the baby and separation of mother and baby on infant variables such as neonatal weight loss. AIMS: To study the effect of different ward routines in respect to proximity to mother and type of infant apparel, on breastfeeding parameters (amount of ingested milk, volume of supplements, number of breastfeeds, total duration of breastfeeding time) day 4 after birth as well as recovery from neonatal weight loss and infant's weight on day 5. STUDY DESIGN AND SUBJECTS: In a randomized trial with factorial design four treatment groups including 176 mother-infant dyads were studied 25-120 min after birth. Randomized treatments focused on care routines administered to the infants after delivery and later in the maternity ward as well as to the type of clothing the infants received. Group 1 infants were placed skin-to-skin with their mothers after delivery, and had rooming-in while in the maternity ward. Group 2 infants were dressed and placed in their mothers' arms after delivery, and roomed-in with mothers in the maternity ward. Group 3 infants were kept in the nursery both after birth and while their mothers were in the maternity ward. Group 4 infants were kept in the nursery after birth, but roomed-in with their mothers in the maternity ward. Equal numbers of infants were either swaddled or clothed in baby attire. Breastfeeding parameters were documented during day 4 after birth. Infant's weight was measured daily. RESULTS: Babies who were kept in the nursery received significantly more formula and significantly less breast-milk, than did babies who roomed-in with their mothers. Swaddling did not influence the breastfeeding parameters measured. However, swaddled babies who had experienced a 2-h separation period after birth and then were reunited with their mothers tended to have a delayed recovery of weight loss compared to those infants who were exposed to the same treatment but dressed in clothes. Furthermore, swaddled babies who were kept in the nursery and received breast-milk supplements had a significantly delayed recovery of weight loss after birth when compared to those infants ingesting only breast-milk. On day 5, regression analyses of predicted weight gain in the exclusively breastfed infants indicated a significant increase per 100 ml breast-milk (59 g), compared to the predicted weight gain on day 5 per 100 ml supplements in the swaddled babies (14 g) (P=0.001). CONCLUSION: Supplements given to the infants in the nursery had a negative influence on the amount of milk ingested. In addition, supplement feeding or a short separation after birth when combined with swaddling was shown to have a negative consequence to infant weight gain.

[Evolution of the automated system for preventive examination of children an automated unit for mass screening examinations].

The complicated situation in pediatric healthcare and long-term negative trends observed in the health of children predetermined the necessity of introducing automated units built on the principles of preventive medicine and screening diagnostics into the practice of healthcare. AKDO units belong to such equipment designed for early diversified diagnostics of chronic diseases made within comprehensive examinations of children, i.e. a state program of regular medical check-ups of children. The paper presents objective trends taking place in the modern practical healthcare that necessitated principle changes in and promotion of functional potentialities of the existing ASPON systems developed in 1983-1988.

Skin-to-skin contact may reduce negative consequences of "the stress of being born": a study on temperature in newborn infants, subjected to different ward routines in St. Petersburg.

AIM: To evaluate how different delivery-ward routines influence temperature in newborn infants. METHODS: A total of 176 newborn mother-infant pairs were included in a randomized study. The babies were kept skin-to-skin on the mother's chest (Skin-to-skin group), held in their mother's arms, being either swaddled or clothed (Mother's arms group), or kept in a cot in the nursery, being either swaddled or clothed (Nursery group). Temperature was measured in the axilla, on the thigh, back and foot at 15-min intervals at from 30 to 120 min after birth. RESULTS: During this time period the axilla, back and thigh temperatures rose significantly in all the treatment groups. The foot temperature displayed a significant fall in the babies in the Nursery group and this decrease was greatest in the swaddled babies. In contrast, foot temperature rose in the babies in the Mother's arms group and in particular in babies in the Skin-to-skin group. Foot temperature remained high in the Skin-to-skin group, whereas the low temperature observed in the Nursery group gradually increased and two days after birth the difference was no longer significant. CONCLUSION: The results show that delivery-ward routines influence skin temperature in infants in the postnatal period. Allowing mother and baby the ward routine of skin-to-skin contact after birth may be a "natural way" of reversing stress-related effects on circulation induced during labour.

[The organizational and methodological bases of medical reconnaissance in extreme situations]. / Organizatsionno-metodicheskie osnovy meditsinskoi razvedki v chrezvychainykh situatsiiakh.

The article deals with the process of medical reconnaissance organisation in various extreme situations, including local wars and armed conflicts. The authors suggest that there is a definite need in special units and mobile sanitary-epidemiological groups, trained and equipped for the task. They also recommend that these units should be formed up in the deployable medical set-ups.

[DNA polymorphism in the region of APOB100, APOCIII, APOE, and angiotensin-converting enzyme genes and indicators of the lipid spectrum in children and adolescents in St. Petersburg]. / Polimorfizm DNK v oblasti genov APOB100, APOCIII, APOE, angiotenzin- konvertiruiushchego fermenta i pokazateli lipidnogo spektra u detei i podrostkov Sankt-Peterburga.

Polymorphisms of 3 apolipoprotein genes Xba I apoB, Sstl apoCIII, and apoE and the insertion-deletion polymorphism of the angiotensin-converting enzyme gene (I/D ACE) and lipid levels were studied in a random sample of 403 children and adolescents aged 6 to 18 years living in St. Petersburg. The children were divided in 4 age groups with consideration for the relative body weight index: group 1.6 to 9 years; II, 10-12; III, 13-15; and IV, 16-18 years. The first three groups were divided by sex, the fourth was not because it was the smallest. Relationships between lipid levels and DNA polymorphisms of the above genes were analyzed in all groups. Effects of apoB Xbal, apoCIII Sstl, apoE, and ACE genotypes on the levels of the blood basic lipids were analyzed using Statgraphics software. A marked effect of the apoE (E3/E4) genotype on the total and LDL-cholesterol variability was observed in group IV. The individuals carrying the E4 apoE allele had increased levels of total and LDL-cholesterol (p < 0.02 and p < 0.03, respectively). The level of triglycerides was higher in the subjects carrying the S2 apoCIII allele in the third group (p < 0.04). A statistically reliable difference was however observed only in girls (p < 0.01). We failed to detect reliable correlations between lipid levels and various apoB and ACE genotypes. Hence, the genetic variants of apoCIII and apoE genes affect the blood lipid levels as early as in adolescence.

Methotrexate in resistant juvenile rheumatoid arthritis. Results of the U.S.A.-U.S.S.R. double-blind, placebo-controlled trial. The Pediatric Rheumatology Collaborative Study Group and The Cooperative Children's Study Group.

BACKGROUND: The antimetabolite methotrexate has been shown in placebo-controlled trials to be effective in adults with rheumatoid arthritis. Methotrexate may also be effective in children with resistant juvenile rheumatoid arthritis, but the supporting data are from uncontrolled trials. METHODS: Centers in the United States and the Soviet Union participated in this randomized, controlled, double-blind trial designed to evaluate the effectiveness and safety of orally administered methotrexate. Patients received one of the following treatments each week for six months: 10 mg of methotrexate per square meter of body-surface area (low dose), 5 mg of methotrexate per square meter (very low dose), or placebo. The use of prednisone (less than or equal to 10 mg per day) and two nonsteroidal antiinflammatory drugs was also allowed. RESULTS: The 127 children (mean age, 10.1 years) had a mean duration of disease of 5.1 years; 114 qualified for the analysis of efficacy. According to a composite index of several response variables, 63 percent of the children who received low-dose methotrexate improved, as compared with 32 percent of those in the very-low-dose group and 36 percent of those in the placebo group (P = 0.013). As compared with the placebo group, the low-dose group also had significantly larger mean reductions from base line in the number of joints with pain on motion (-11.0 vs. -7.1), the pain-severity score (-19 vs. -11.5), the number of joints with limited motion (-5.4 vs. -0.7), and the erythrocyte sedimentation rate (-19.0 vs. -6 mm per hour). In the methotrexate groups only three children had the drug discontinued because of mild-to-moderate side effects; none had severe toxicity. CONCLUSIONS: Methotrexate given weekly in low doses is an effective treatment for children with resistant juvenile rheumatoid arthritis, and at least in the short term this regimen is safe.

[Thymus mass in infants in the first year of life, who died as a result of sudden death syndrome]. / Massa timusa u detei pervogo goda zhizni, pogibshikh vsledstvie sindroma vnezapnoi smerti.

Thymus weight was studied in 117 infants of the first year of life who died a sudden death, in 195 breast-fed infants who died of various diseases and in 27 infants aged up to one year who died a violent death without disease symptoms. There was a great variability of the thymus weight in all the groups, although its values were statistically lower in the syndrome of sudden death whatever the method of comparison. No proof of the children thymomegaly in the syndrome of sudden death is found.

Generalized view of the origins of the sudden infant death syndrome.

A hypothesis is present that explains Sudden Infant Death Syndrome (SIDS) as an outcome of biological immaturity. This hypothesis fits the known characteristics of SIDS and does not conflict with other possible explanations of its genesis.

[The evaluation of the therapeutic efficacy of auranofin in juvenile rheumatoid arthritis (the results of Soviet-American research)]. / Otsenka terapevticheskoi éffektivnosti auranofina pri iuvenil'nom revmatoidnom artrite (rezul'taty sovetsko-amerikanskogo issledovaniia).

The authors describe the results of prospective multicenter Soviet-American placebo-controlled 6-month investigations concerned with assessment of the therapeutic efficacy of auranofin in juvenile rheumatoid arthritis (JRA). 231 patients with JRA were placed under observation. Auranofin was found to be slightly superior to placebo. The drug was tolerated well. It is noted that in the treatment of JRA, of importance are long (6-month) courses of non-steroidal anti-inflammatory drugs.

[Ultrasonic examination in biliary tract diseases]. / U'ltrazvukovoe issledovanie pri zabolevaniiakh zhelchevyvodia- shchikh putei.

The authors consider that ultrasonic examination is a simple, safe and highly informative method of examination having no contraindications. Due to its high informative value the USE is of decisive significance in diagnosis of cholelithiasis. The obtaining of more exact diagnosis of "acalculous cholecystitis" requires strict interpretation of all the findings of ultrasonic examination. The ultrasonic symptomatology of noninflammatory diseases of the bile duct requires more exact details.