Rare case of type II glycogen storage disease

The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle perceived as posthypoxic. After delivery, the newborn underwent the ultrasound examination and molecular genetic studies. Firstly, the hepatomegaly and cardiomegaly were diagnosed. Then an infantile form of Pompe disease was found. The patient got enzyme replacement therapy without positive result. The death occurred at the age of 2 years and 5 months as a result of cardiovascular disease failure. Macroscopically, the sizes of the internal organs were increased. The microscopic examination demonstrated glycogen deposition in the myocardium, skeletal muscles, mucous membranes of the organs of the gastrointestinal tract, liver, kidney, spleen and adrenal gland

Numerical Investigation into the Effect of Splats and Pores on the Thermal Fracture of Air Plasma-Sprayed Thermal Barrier Coatings

The effect of splat interfaces on the fracture behavior of air plasma-sprayed thermal barrier coatings (APS-TBC) is analyzed using finite element modeling involving cohesive elements. A multiscale approach is adopted in which the explicitly resolved top coat microstructural features are embedded in a larger domain. Within the computational cell, splat interfaces are modeled as being located on a sinusoidal interface in combination with a random distribution of pores. Parametric studies are conducted for different splat interface waviness, spacing, pore volume fraction and fracture properties of the splat interface. The results are quantified in terms of crack nucleation temperature and total microcrack length. It is found that the amount of cracking in TBCs actually decreases with increased porosity up to a critical volume fraction. In contrast, the presence of splats is always detrimental to the TBC performance. This detrimental effect is reduced for the splat interfaces with high waviness and spacing compared to those with low waviness and spacing. The crack initiation temperature was found to be linearly dependent on the normal fracture properties of the splat interface. Insights derived from the numerical results aid in engineering the microstructure of practical TBC systems for improved resistance against thermal fracture

Medroxyprogesterone Acetate Alters Mycobacterium Bovis BCG-Induced Cytokine Production in Peripheral Blood Mononuclear Cells of Contraceptive Users

Most individuals latently infected with Mycobacterium tuberculosis (M.tb) contain the infection by a balance of effector and regulatory immune responses. This balance can be influenced by steroid hormones such as glucocorticoids. The widely used contraceptive medroxyprogesterone acetate (MPA) possesses glucocorticoid activity. We investigated the effect of this hormone on immune responses to BCG in household contacts of active TB patients. Multiplex bead array analysis revealed that MPA demonstrated both glucocorticoid and progestogenic properties at saturating and pharmacological concentrations in peripheral blood mononuclear cells (PBMCs) and suppressed antigen specific cytokine production. Furthermore we showed that PBMCs from women using MPA produced significantly lower levels of IL-1α, IL-12p40, IL-10, IL-13 and G-CSF in response to BCG which corresponded with lower numbers of circulating monocytes observed in these women. Our research study is the first to show that MPA impacts on infections outside the genital tract due to a systemic effect on immune function. Therefore MPA use could alter susceptibility to TB, TB disease severity as well as change the efficacy of new BCG-based vaccines, especially prime-boost vaccine strategies which may be administered to adult or adolescent women in the future

Transcriptional responses of winter barley to cold indicate nucleosome remodelling as a specific feature of crown tissues

We report a series of microarray-based comparisons of gene expression in the leaf and crown of the winter barley cultivar Luxor, following the exposure of young plants to various periods of low (above and below zero) temperatures. A transcriptomic analysis identified genes which were either expressed in both the leaf and crown, or specifically in one or the other. Among the former were genes responsible for calcium and abscisic acid signalling, polyamine synthesis, late embryogenesis abundant proteins and dehydrins. In the crown, the key organ for cereal overwintering, cold treatment induced transient changes in the transcription of nucleosome assembly genes, and especially H2A and HTA11, which have been implicated in cold sensing in Arabidopsis thaliana. In the leaf, various heat-shock proteins were induced. Differences in expression pattern between the crown and leaf were frequent for genes involved in certain pathways responsible for osmolyte production (sucrose and starch, raffinose, γ-aminobutyric acid metabolism), sugar signalling (trehalose metabolism) and secondary metabolism (lignin synthesis). The action of proteins with antifreeze activity, which were markedly induced during hardening, was demonstrated by a depression in the ice nucleation temperature

Innovative direction of educational trajectory of pediatrics under continuous medical education successes, problems and prospects

The main problems and perspectives of the development of continuous medical education (NMI) and the work of the Department of Polyclinic Pediatrics and Pediatrics of the FPK and PP FGBOU in the UGMU of the Ministry of Health of Russia on the introduction of the NMA system are presented. An analysis of the results of the questionnaire survey of 45 pediatricians participating in the implementation of the pilot project for the implementation of the additional educational program “Palliative care in pediatrics.” As a result of the study, 80% of the practitioners indicated that the information on the palliative care system for children is known to them for the first time, and the cycle is timely and in demand by the pediatric community.Представлены основные проблемы и перспективы развития непрерывного медицинского образования (НМО) и работа кафедры поликлинической педиатрии и педиатрии ФПК и ПП ФГБОУ ВО УГМУ Минздрава России по внедрению системы НМО. Проведен анализ результатов анкетирования 45 врачей-педиатров, участвующих в реализации пилотного проекта по реализации дополнительной образовательной программы «Паллиативная помощь в педиатрии». В результате проведенного исследования 80% врачей практического звена указали на то, что полученная информация по системе оказания паллиативной помощи детям познается ими впервые, а проведение цикла своевременно и востребовано педиатрическим сообществом

Fructan and its relationship to abiotic stress tolerance in plants

Numerous studies have been published that attempted to correlate fructan concentrations with freezing and drought tolerance. Studies investigating the effect of fructan on liposomes indicated that a direct interaction between membranes and fructan was possible. This new area of research began to move fructan and its association with stress beyond mere correlation by confirming that fructan has the capacity to stabilize membranes during drying by inserting at least part of the polysaccharide into the lipid headgroup region of the membrane. This helps prevent leakage when water is removed from the system either during freezing or drought. When plants were transformed with the ability to synthesize fructan, a concomitant increase in drought and/or freezing tolerance was confirmed. These experiments indicate that besides an indirect effect of supplying tissues with hexose sugars, fructan has a direct protective effect that can be demonstrated by both model systems and genetic transformation

Lower concentrations of chemotactic cytokines and soluble innate factors in the lower female genital tract associated with the use of injectable hormonal contraceptive.

CAPRISA, 2015.Abstract available in pdf

Session 17 Ecophysiology

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Комплаентность и персистентность у пациентов с первичной открытоугольной глаукомой с позиции офтальмолога

PURPOSE: Determination of key factors of non-compliance for treatment and duration of recommendations accomplishment in accordance with doctor’s instructions and associated with time from therapy start to its discontinuation (persistence) in patients with glaucoma by assessment of personal opinion of ophthalmologists with different amount of experience.METHODS: 509 queries of medical professionals (631 doctors) from Russia and other 6 countries were included into the study. All doctors’ queries were grouped according to the duration of their work experience, place of work — depending on medical care type (ambulatory or inpatient) and by hospital propriety type (state or private). Data collection method: online survey. The significance of the 32 selected compliance factors was assessed by the ball system from 10 (maximum significant factor) to 1 (minimally significant factor). Analysis program Statistica 8.0 (StatSoft Inc., USA).RESULTS: Data analysis allowed determining medium terms for continued application of recommended therapy depending on patients group. Persistency of low-compliant patients was considered a period of continued following of recommendations from 15 up to 27.5 days per year, high-compliant — 180-300 days per year. Doctors’ opinion depended on time in professional and place of work. Study results allowed recognizing percent’s of “low-compliant”, “mediumcompliant” and “high-compliant” patients. Following patients compliance factors were assessed as well: factors directly associated with treatment, factors, associated with patient’s condition, factors of behavioral compliance and social compliance. Moreover, trial results displayed difference in opinion of medical specialists depending on the duration of their work experience, place of work and clinic type.CONCLUSION: Study groups divided by the amount of healthcare experience showed no difference in patients compliance apprehension. Percentage of low-compliant patients was 20 [10; 30] %; medium-compliant — 30 [20; 45] and high-compliant — 50 [30; 60]% in all groups. A longer duration of healthcare experience corresponded with higher persistence requirements. Low-compliant patients followed recommendations for up to 20 days per year [7; 60]; medium-compliant — for 90 [20; 200] and lowcompliant — 200 [40; 350]. Primary factors for non-compliancy in all groups were defined as follows: absence of motivation; complicated instillation regimen influencing daily activities; absence of contact with attending physician; low information level concerning condition; age; side effects; medication price; laziness; family history of glaucoma. Factors of behavioral compliance were considered the most important in all groups — 75%.ЦЕЛЬ. Определение ключевых факторов нарушения приверженности к лечению (комплаентности) и продолжительности в выполнении назначений по времени от начала терапии до ее прекращения (персистентности) у пациентов с глаукомой при изучении субъективного мнения врачей-офтальмологов с разным стажем и местом работы.МЕТОДЫ. В исследование были включены 509 анкет от 631 врача из России и 6 стран СНГ. Все анкеты врачей были разделены на группы в зависимости от их стажа и места работы, вида собственности лечебно-профилактического учреждения (государственной или частной) и формы оказания медицинской помощи (амбулаторной или стационарной). Метод сбора данных: онлайн-анкетирование. Значимость 32 отобранных факторов комплаентности оценивалась по балльной системе от 10 (максимально значимого фактора) до 1 (минимально значимого фактора). Программа анализа: Statistica 8.0 (StatSoft Inc., США).РЕЗУЛЬТАТЫ. Анализ данных позволил получить средние сроки непрерывного соблюдения назначенной терапии в зависимости от принадлежности участников анкетирования к той или иной группе. Персистентность (период непрерывного соблюдения рекомендаций) низкокомплаентных пациентов составила от 15 до 27,5 дней в году, высококомплаентных — от 180 до 300 дней в году. Мнение врачей зависело от стажа и места их работы. Выявлены доли «низкокомплаентных», «среднекомплаентных» и «высококомплаентных» пациентов. Проанализированы конкретные факторы приверженности пациентов к соблюдению рекомендаций, связанные непосредственно с лечением, состоянием пациента, особенности поведенческой и социальной комплаентности. Результаты исследования показали различия мнений практикующих врачей в зависимости от стажа, места работы и вида лечебного учреждения.ЗАКЛЮЧЕНИЕ. В анализируемых группах врачей, разделенных по стажу работы, разница в представлениях о комплаентности пациентов не выявлена. Доля «низкокомплаентных» пациентов составляет в среднем 20% [10; 30], «среднекомплаентных» — 30% [20; 45] и «высококомплаентных» — 50% [30; 60]. Чем больше стаж, тем более высокие требования предъявляются врачами к соблюдению рекомендаций. Предполагается, что «низкокомплаентные» пациенты соблюдают рекомендации в течение 20 [7; 60] дней в году, «среднекомплаентные» — 90 [20; 200], «высококомплаентные» — 200 [40; 350]. Ведущими факторами нарушения комплаентности во всех группах являются: отсутствие мотивации, сложный режим инстилляций, отсутствие контакта с врачом, низкая степень информированности о заболевании, возраст, забывчивость, наличие побочных эффектов, стоимость, лень, семейный анамнез глаукомы. На первом месте во всех группах отмечают факторы поведенческой комплаентности — до 75%