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

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

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

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%

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

Integrated approach for the development of advanced, coated gas turbine blades

This paper describes a through-process modelling on a microstructural level of the production of a coated turbine blade, including its in-service properties and degradation, accompanied by the actual production and testing of a CMSX-4 single crystal turbine blade dummy. The following steps are dealt with by modelling and experiment: solidification of the blade alloy during casting, microstructural changes during homogenization and aging heat treatments, chemical vapour deposition of an Al2O3 diffusion barrier coating, physical vapour deposition (sputtering) of a (Ni,Co)CrAlY bond coat, atmospheric plasma spraying of an Y2O3 stabilized ZrO2 thermal barrier coating and microstructural changes and development of critical stresses at in-service conditions. This work forms a part of the Collaborative Research Centre 370 (SFB370) "Integrative materials modelling"