Опыт работы сестринских астма-школ в Архангельской области

The article summarizes a 4-year experience of nurse-guided asthma-schools at the Arkhangelsk region. This topic is of great interest in Russia as far as a doctor typically plays the main role at the education of an asthma patient. Sixteen asthma-schools have been working at the region now. The article discusses organizing problems of this activity, peculiarities due to a kind of a medical institution, a level of the nurses’ originality. The most important problem is an absence of vacancy for a training specialist on the staff of medical institutions. The results of the work show the effectiveness of nurse-guided education of asthma patients.В статье обобщен 4-летний опыт работы медсестринских астма-школ на территории Архангельской области. Тема более чем актуальна для России, где традиционно основная роль в обучении больных бронхиальной астмой принадлежала врачу-пульмонологу. В области работают 16 астма-школ. Обсуждаются вопросы их функционирования, особенности работы в зависимости от уровня медицинского учреждения, степень самостоятельности медицинских сестер. Наиболее важной проблемой является отсутствие штатных должностей специалистов по образованию в лечебных учреждениях. Результаты работы свидетельствуют об эффективности привлечения медицинских сестер к образовательному процессу у пациентов с астмой

A case of 17-beta-hydroxysteroid dehydrogenase deficiency type 3 in adult endocrinologist practice

17β-Hydroxysteroid dehydrogenase 3 deficiency (17HSD3) is a rare autosomal recessive cause of 46, XY disorders of sex development resulting from HSD17B3 gene mutations, in which conversion of androstenedione to testosterone is impared. The clinical signs of 17HSD3 deficiency depend on the residual activity of the enzyme. The diagnosis of 17HSD3 deficiency is based on reduced testosterone/androstenedione ratio (T/AD < 0.8). Patients are usually assigned at birth and raise as female. If the diagnosis is made before puberty, gonadectomy is recommended, taking into account the risk of masculinization during the puberty and estrogen therapy initiation in this period. If the diagnosis of 17HSD3 deficiency is established during puberty, when virilization manifests, the therapeutic strategy is based on the results of comprehensive psychological testing and gender identity of a patient. In patients with more pronounced masculinization or diagnosis established shortly after birth, who are assigned at birth and raise as male, testosterone therapy is used to achieve a male phenotype. The 17HSD3 deficiency and virilization often result in a change of gender identity during puberty. The article presents a clinical case of 17-βhydroxysteroid dehydrogenase type 3 deficiency with late diagnosis due to parental will. The diagnostic approaches and management of the disease are also described

Clinical, hormonal and molecular-genetic characteristics of monogenic diabetes mellitus associated with the mutations in the <i>INS</i> gene

Background: Currently more than 50 mutations of the INS gene are known to affect the various stages of insulin biosynthesis in the beta cells of the pancreas. However only individual cases of diabetes mellitus (DM) associated with heterozygous mutations in the coding region of the INS gene were reported in Russian Federation. We report a group of patients with a clinical manifestation of DM caused by mutations in both coding and non-coding regions of the INS gene. The patients with a mutation in the intron of the INS gene are reported for the first time in Russian FederationMaterials and methods: 60 patients with an isolated course of neonatal DM (NDM), 52 patients with a manifestation of DM at the age of 7–12 months and the absence of the main autoimmune markers of type 1 DM, 650 patients with the MODY phenotype were included in the study. NGS technology was used for molecular genetic research. Author’s panel of primers (Custom DNA Panel) was used for multiplex PCR and sequencing using Ion Ampliseq™ technology. The author’s panel “­Diabetes Mellitus” included 28 genes (13 candidate genes of MODY and other genes associated with DM).Results: 13 heterozygous mutations were identified in 16 probands and 9 relatives. The majority of mutations were detected in patients with PNDM (18.75%) and in patients with an onset of DM at the age of 7–12 months (9.6%). Mutations in the INS gene were detected in 2 patients (0.3%) in the group with the MODY phenotype. Mutations in the INS gene were not detected in patients with transient NDM (TNDM). Analysis of clinical data in patients with PND and onset of diabetes at the age of 7–12 months did not show significant differences in the course of the disease. The clinical characteristics of the cases of MODY10 and diabetes caused by a mutation in the intron of the INS gene are reported in details.Conclusion: The role of INS gene mutations in NDM, MODY, and DM with an onset at the age of 7–12 months was analyzed in a large group of patients. The clinical characteristics of DM due to a mutation in the intron of the INS gene are reported for the first time in the Russian Federation

MICROSTRUCTURE OF STOMATOLOGICAL MATERIAL "RESTAVRIN" BEFORE AND AFTER BACTERIAL COLONIZATION IN THE EXPERIMENT

Aim. This research was conducted to study the electron microscopic microstructure of the surface of the filling material «Restavrin» coated with the «Easy Glaze» sealant and without it before and after bacterial adhesion by scanning electron microscopy.Materials and methods. There was studied the microrelief of the plates preliminarily made from a polymeric nano-hybrid filling material («Restavrin», Technodent, Russia) with and without the sealant «Easy Glaze» and without it both in the initial state and after being placed in a medium with microorganisms. The material for microbiological examination (the contents of the gingival sulcus) was taken from 23 patients with a diagnosis of «dentine caries» by sterile turundas. The test material was directly placed near the patient's chair in a Petri dish with enriched blood agar. Nutrient media with inoculations were delivered to the laboratory for further research. After selecting the necessary area for scanning at the same magnification (×200) (the size of the scanned section is 50x68 μm2) at a certain vertical interval, 6-8 horizontal lines for scanning were selected.Results. Scanning electron microscopy at the end of the 45-day experiment showed that used S.oralis and S.mutans strains (strains isolated from dental patients’ contents of the gingival joint) have a pronounced ability to adhere what indirectly confirms the formation of glucans by them and, accordingly, their cariogenicity. The destructive effect of oral streptococci (S.mutans + S.oralis) on the surface of the filling materials «Restavrin» and «Restavrin» + sealant «Easy Glaze» was experimentally confirmed that clearly manifests itself after 45 days of joining streptococci and filling materials. It should be noted that the restorative material «Restavrin» under the sealant «Easy Glaze» remained nearly intact during the 45-day in vitro experiment.Conclusion. We consider it advisable to recommend the compulsory covering of the restoration with a sealant because it serves as a kind of barrier protecting the filling material from the effect of oral streptococci. Accordingly, this procedure extends the life of the filling and also ensures the preservation of the aesthetic and mechanical properties of the composite restorations

Genomic analyses reveal two distinct lineages of Corynebacterium ulcerans strains

Corynebacterium ulcerans is an important zoonotic pathogen which is causing diphtheria-like disease in humans globally. In this study, the genomes of three recently isolated C. ulcerans strains, 4940, 2590 and BR-AD 2649, respectively from an asymptomatic carrier, a patient with pharyngitis and a canine host, were sequenced to investigate their virulence potential. A comparative analysis was performed including the published genome sequences of 16 other C. ulcerans isolates. C. ulcerans strains belong to two lineages; 13 strains are grouped together in lineage 1, and six strains comprise lineage 2. Consistent with the zoonotic nature of C. ulcerans infections, isolates from both the human and canine hosts clustered in both the lineages. Most of the strains possessed spaDEF and spaBC gene clusters along with the virulence genes cpp, pld, cwlH, nanH, rpfI, tspA and vsp1. The gene encoding Shiga-like toxin was only present in one strain, and 11 strains carried the tox gene encoding the diphtheria-like toxin. However, none of strains 4940, 2590 and BR-AD 2649 carried any toxin genes. These strains varied in the number of prophages in their genomes, which suggests that they play an important role in introducing diversity in C. ulcerans. The pan-genomic analyses revealed a variation in the number of membrane-associated and secreted proteins that may contribute to the variation in pathogenicity among different strains. Keywords: Corynebacterium ulcerans, diphtheria, nontoxigenic, sore throat, toxigenic, vaccine, virulence, zoonoti