Репозиторий Университета

© 2017 Informa UK Limited, trading as Taylor  &  Francis Group. Sub-constructs of morning–evening preference might be differentially related to polymorphisms in circadian clock genes. We previously reported significant association between a single nucleotide polymorphism in PER3 (rs2640909) and Morning but not Evening Lateness scale of the Sleep–Wake Pattern Assessment Questionnaire. To further explore such a scale-specific relationship, seven single nucleotide polymorphisms in five circadian clock genes were studied using exploratory and confirmatory samples (in total, n = 698). The association of rs2640909 with Morning Lateness scale was not replicated in the confirmatory sample but remained significant in the merged sample. Moreover, we found and confirmed an association of this scale with rs1159814 in RORα. The results provided further evidence for differential relationship of polymorphisms in circadian clock genes with morning and evening components of morning–evening preference. We also suggested possibility to take into account the pattern of geographic variation in allele frequency for prioritization of circadian clock polymorphisms in candidate gene studies.

© 2018 The Author(s). Background: The approaches to the diagnosis and treatment of chronic spontaneous urticaria (CSU) differ in various parts of the world. We sought to determine the adherence to international and national urticaria guidelines as well as the motives to deviate from the guidelines among physicians worldwide. Methods: A web-based questionnaire was created and launched via e-mail by the World Allergy Organization (WAO) to representatives of all WAO Member Societies, the members of the American Academy of Allergy, Asthma & Immunology (AAAAI) and the members of the WAO Junior Members Group (JMG), regardless of the specialty, affiliation, or nationality in March 2017. Results: We received 1140 completed surveys from participating physicians from 99 countries. Virtually all participants (96%) were aware of at least one urticaria guideline and reported that they follow a guideline. However, one in five physicians who follow a guideline (22%) reported to deviate from it. Reliance on own clinical experience is the most frequent reason for deviation from guidelines or not following them (44%). Young (< 40 years) and less experienced physicians more often follow a guideline and less often deviate than older and experienced ones. Physicians who follow a urticaria guideline showed higher rates of routinely ordering a complete blood count, the erythrocyte sedimentation rate, C-reactive protein, anti-thyroid antibodies, and thyroid-stimulating hormone and of performing the autologous serum skin test as compared to those who do not. Physicians who follow a urticaria guideline showed higher rates of using second generation antihistamines as their first-line treatment of CSU (p = 0.001) and more frequently observed higher efficacy of these drugs (or had more confidence that it would work, p < 0.019) as compared to those who do not follow the guidelines. Conclusions: Physicians' characteristics (e.g. age, clinical experience, and specialty) and country specifics and regional features (e.g. availability of drugs for CSU treatment) importantly influence adherence to urticaria guidelines and CSU patient care and should be addressed in more detail in future research.

© 2017 Informa UK Limited, trading as Taylor  &  Francis Group. The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers–Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.

© 2018, © 2018 Taylor  &  Francis. American neurologist and epileptologist Francis M. Forster (1912–2006) was the last survivor of the “Four Horsemen,” a nickname given to the four neurologists—Forster, Abe Baker, Russell DeJong, and Adolph Sahs—who were most instrumental in founding the American Academy of Neurology under Baker’s leadership in 1948. Forster was a consulting physician for many high-profile patients, including President Dwight Eisenhower, President Quirino and Archbishop Reyes of the Philippines, Provisional President Lonardi of Argentina, and Cardinal Albert Meyer of Chicago. Forster was also an expert witness for the prosecution in the trial of Jack Ruby, who killed Lee Harvey Oswald. Forster’s greatest legacy, though, was as a teacher: During his career as chairman of two robust academic neurology departments, he trained more than 100 residents, at least 17 of whom went on to become chairmen of neurology departments in the United States, Europe, Asia, and South America.

© 2018, © 2018 Taylor  &  Francis. “The Four Horsemen” was the nickname given to the four neurologists—Abraham Baker, Francis Forster, Russell DeJong, and Adolph Sahs—who were most instrumental in founding and developing the American Academy of Neurology (AAN) beginning around 1948. Forster later humorously added “and their nags” to the epithet to reflect the cohesion of the founders and their wives. This article presents the personal recollections of these founders from correspondence and oral histories. When the AAN was founded, private-practice neurologists and residents were excluded from the academically oriented and restrictive American Neurological Association (ANA). Baker conceptualized the AAN as an inclusive professional society that would accept all neurologists of whatever age and level of training, and that would strive to strengthen their knowledge, competencies, and skills through continuing medical education and guideline development. Baker recruited supportive colleagues to help create and develop the organization. Their intention was not to compete with or subvert the ANA, but to offer an inclusive professional organization for all neurologists. Nevertheless, their efforts produced opposition among ANA members. To defuse the antagonism, neurologist Alphonse Vonderahe proposed an influential House–Senate formulation of the AAN–ANA relationship, modeled after the U.S. Congress, both as a supporting rationale for the AAN and as a conceptual model for the functional relationship between the two organizations. The inclusive approach greatly augmented the ranks of the fledgling AAN, whereas those of the ANA stayed relatively stagnant, with the AAN ultimately becoming the dominant neurological society. These neurologic pioneers laid the groundwork for an invigorated, well-trained, scientifically based specialty of neurology in the second half of the twentieth century.

© 2018, © 2018 Taylor  &  Francis. American neurologist and neuropathologist Abraham Bert (Abe) Baker (1908–1988) was instrumental in founding the American Academy of Neurology and served as a catalyst for the emergence of neurology as a strong, independent medical discipline in the United States in the second half of the twentieth century. Baker served as the first president of the Academy from 1948 to 1951. He was also instrumental in garnering support for the National Institute of Neurological Diseases and Blindness, which was founded in 1950 and later evolved into the National Institute of Neurological Disorders and Stroke. Baker’s leadership was also essential in developing continuing medical education for neurologists at a national level and in garnering federal financial support for neurology training programs.

© 2018, The Author(s). Introduction: Trimetazidine (TMZ) has been shown to reduce angina symptoms and to increase exercise capacity in randomized clinical trials, but more extensive data would be useful to assess its effects in real-world clinical practice and in patients with different durations of disease. Methods: CHOICE-2 was a Russian, multicenter, 6-month, open-label, prospective observational study that assessed the effect of adding TMZ modified release 35 mg bid to antianginal treatment in a real-world setting. The present analysis of CHOICE-2 results explored the effects of adding TMZ to background antianginal therapies with regard to the duration of stable angina. Results: A total of 741 patients with known durations of disease were divided into four groups according to stable angina pectoris (AP) duration, ranging from less than 1 year to more than 9 years. Addition of TMZ led to a significant decrease in the frequency of angina attacks and in the use of short-acting nitrates in all groups. In patients with recently diagnosed angina (AP duration < 1 year), the average number of angina attacks per week decreased significantly from 3.75 ± 4.63 to 0.67 ± 1.51 and in those with advanced disease (AP duration > 9 years) from 5.63 ± 5.24 to 1.32 ± 2.07. Angina-free walking distance also improved significantly. Addition of TMZ also improved patient well-being. Results were achieved rapidly (within 2 weeks), were maintained over 6 months, and were obtained in all patient groups regardless of angina duration. Conclusion: TMZ added to other antianginal therapies proved to be effective for reducing angina attacks and short-acting nitrate use, increasing angina-free walking distance, and improving patient well-being in a real-life setting, irrespective of angina duration, including patients with recently diagnosed angina. This provides an opportunity for intensification of treatment early on in the disease process, with the aim of decreasing angina burden and improving patient quality of life. Funding: Servier. Trial Registration: ISRCTN identifier ISRCTN65209863. Plain Language Summary: Plain language summary available for this article.

© 2018, Pediatria Ltd.. All rights reserved. The article presents data of a systematic review of observational and interventional studies on possible associations between the level of macro-and micronutrients consumption by lactating mothers and their breast milk composition. Authors present the results of a 3-week prospective medical observation in assessing the tolerability of specialized products for lactating mothers, as well as the dynamics of the physical development of their children who are exclusively breastfed.

The article presents the results of medical sociological study carried out with the purpose of analyzing concepts and motivation attitudes of students of medical universities concerning healthy life-style and its components. The results of study demonstrate that students admitting importance of preservation of one's own health, are committed to unhealthy life-style and more often renounce sport involvement and are inactive in the area of diseases prevention and health promotion. It is emphasized that healthy life-style of students of medical universities is rather exception than prevalent practice.

© 2018, Pleiades Publishing, Ltd. Phospholipase D (PLD; EC 3.1.4.4) is one of the key enzymes catalyzing hydrolysis of cell membrane phospholipids. This review considers and summaries current knowledge about six human PLD isoforms, their structure and a role in physiological and pathological processes. Comparative analysis of PLD isoforms structure is presented. The review considers the mechanism of hydrolysis and transphosphatidylation performed by PLD, the role of PLD1 and PLD2 in the pathogenesis of some types of cancer, infectious, thrombotic, and neurodegenerative diseases is analyzed. The prospects of development of PLD isoformselective inhibitors are considered in the context of their clinical use and inclusion into various therapeutic schemes; the latter is especially important in the case of already developed PLD inhibitors. Phosphatidylethanol (PEth) formed in the human body during phospholipid transphosphatidylation catalyzed by PLD is considered as an alcohol abuse biomarker.

© 2018 by Turkish Association of Urology. Objective: Surgical site infection (SSI) is defined as infection at or near surgical incisions within 30 days of an operative procedure and classified either incisional superficial and deep or organ/space. The aim of the study is to report and compare the incidence and management of SSIs after robot-assisted laparoscopic radical prostatectomy (RALP) and retropubic radical prostatectomy (RRP). Material and methods: Within the last 4 years, we identified 285 patients that underwent RRP, n=187 (66%) or RALP, n=98 (34%). We reviewed the frequency, types and way of management of SSI complications. Results: A significant difference was found between RALP and RRP (2/98, 2% vs. 27/187, 14.4%; p<0.0001) as for SSIs. The time interval between the time of surgery and diagnosis of SSIs was longer in RALP relative to RRP (median 13.5 vs. 12.9 days, p=0.761). Conclusion: All types of SSIs could be developed after RP, however RALP patients only experienced organ or space SSIs and have a lower rate of SSIs and shorter treatment time.

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. An express technique for isolation and quantitative determination of water-soluble polysaccharides from roots of Taraxacum officinaleWigg. was developed and allowed the assay time to be shortened to 3.5 h. The developed technique was validated for precision, accuracy, robustness, and linearity and was demonstrated to be precise under repeatable conditions, accurate, and robust. The precipitate mass was strictly linearly dependent on the analyzed raw-material mass for gravimetric determination of water-soluble polysaccharides from roots of T. officinale. The technique could be used for express quality control of T. officinale roots and for commercial production of inulin from this raw material.

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. We carried out a comparative study of the features of osteogenesis from the progenitor osteogenic periosteal cells in rabbit and human. At the initial stages, high osteogenic potential of both human and rabbit periosteal cells was observed. However, at the later stages, the cell response favors resorption of the new bone tissue formed from periosteal cells in rabbits, but does not affect the bone tissue formed from human progenitor osteogenic periosteal cells. These functional characteristics of rabbit periosteal cells should be considered when planning the experiment.

The prevalence of habitual miscarriage varies depending on territories of the Russian Federation and other countries. The rate of premature delivery in the Moscow Zelenograd administrative okrug in 2013-2015 in average made up to 4.5%-4.7%. The percentage of habitual miscarriage made up to 3.6% that is a rather low indicator as compared with other Moscow okrugs and national average indices. The article considers three-level model of evaluation of medical, economic and social efficiency of obstetric gynecologic care support of population at the out-patient stage.

© 2018 Author(s). Bottom pressure of confined granular assemblies saturates at a certain value even this packing bed is being continuously charged. Corresponding formulation has been established to describe this interesting phenomenon. In this work, the influences of particle size and friction on the bottom stresses of granular matter were numerically investigated by discrete element method (DEM). It is found that the Janssen model can well predict the stress profile only when the size ratio of the container versus the particle is larger than 16. Moreover, a hydrostatic linear relation between apparent mass and filling mass can be obtained when the friction coefficient becomes insignificant (μ ≤ 0.01). To further interpret the Janssen effects, the granular assemblies are characterized and evaluated from the overall interactions with sidewalls, angular distribution function, void size distribution, coordination number, contact networks, contact orientation and distributions of contact forces within the packing structure. It is believed that these results will be helpful to comprehend the granular behaviors and may offer instructive reference to industrial processes in related fields.

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Research results supporting the manufacturing technology for floating prolonged-release oral tablets based on a hydrophilic matrix with the nonselective α-adrenoblocker proroxan are presented.Wet granulation of the effervescent ingredients with the matrix produced tablets with the required buoyancy lag-time, float time, and proroxan release kinetics.

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Technology development for solid dosage forms with a solid dispersion of diclofenac is a crucial problem in pharmaceutical science and practice. The goal of the work was science-based and experimental technology development for tablets containing a solid dispersion of diclofenac with improved biopharmaceutical indicators as an equivalent to the substance. The obtained granulates and tablets had indicators that met the corresponding standards of the Russian SP XIIIth Ed. Almost 100% of the diclofenac was released from the developed tablets. This was 1.3 times greater than from commercial tablets. The recommended shelf life under these conditions is two years. The proposed technology could not only increase the bioavailability of the slightly soluble non-salt form of diclofenac but also facilitate further development of new medicinal preparations with improved bioavailability.

© 2018, The Author(s) under exclusive licence to The Japan Society of Human Genetics. Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf–Hirschhorn syndrome. Deletions involving WHSC1 (Wolf–Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf–Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported. Using whole exome sequencing, we found a de novo nonsense mutation in WHSC1 (c.3412C>T, p.Arg1138Ter, NM_001042424.2) in patient with syndromic intellectual disability. This finding is challenging regarding a possible causative role of WHSC1 in intellectual disability syndromes, specifically Wolf–Hirschhorn syndrome. From the clinical standpoint, our finding suggests that next-generation sequencing along with chromosome microarray analysis (CMA) might be useful in genetic testing for patients with intellectual disability and dysmorphic features.