GPR surveys and RPA aerial photography using in conducting geocryological studies on the Oka plateau in the Eastern Sayan ridge

The results of ground-penetrating radar (GPR) studies of permafrost and aerial photography, carried out at key sites in the Sentsa River valley (Oka Plateau, Eastern Sayan Ridge), are presented.For geophysical studies, an OKO-2 GPR completed with an AB-90 shielded antenna unit was used with a maximum sounding depth of up to 20 m and a resolution of 0.5 m. To account for the landscape elevation, the Trimble TS635 tacheometer and the Leiсa DISTO D 510 rangefinder performed hypsometric measurements with a step of 1.0 m. Aerial photography was carried out by a remotely piloted aircraft (RPA) DJI Inspire 1 Pro, equipped with a Zenmuse 3X camera (a resolution of 3840×2160 pixels) with a spatial resolution of 5.7–7.8 cm/pixel (in different years).In the structure of frozen lacustrine-alluvial sediments, three GPR complexes are distinguished, corresponding to the active layer and frozen rocks with different amounts of schlieren, lenses and layers of texture-forming ice. The orthophoto map and tacheometric survey analysis showed that the destruction of frost mounds occurs from the second half of April to the first half of October. The most significant relief change is due to the thawing of icy pulverescent clayey silts. It leads to subsidence blocks in the ledge of the Sentsa River terrace. Lateral river thermoerosion also contributes to the frost mounds destruction

ГЕОРАДИОЛОКАЦИЯ И ДПЛА АЭРОФОТОСЪЕМКА ПРИ ГЕОКРИОЛОГИЧЕСКИХ ИССЛЕДОВАНИЯХ НА ОКИНСКОМ ПЛОСКОГОРЬЕ В ВОСТОЧНЫХ САЯНАХ

The results of ground-penetrating radar (GPR) studies of permafrost and aerial photography, carried out at key sites in the Sentsa River valley (Oka Plateau, Eastern Sayan Ridge), are presented.For geophysical studies, an OKO-2 GPR completed with an AB-90 shielded antenna unit was used with a maximum sounding depth of up to 20 m and a resolution of 0.5 m. To account for the landscape elevation, the Trimble TS635 tacheometer and the Leiсa DISTO D 510 rangefinder performed hypsometric measurements with a step of 1.0 m. Aerial photography was carried out by a remotely piloted aircraft (RPA) DJI Inspire 1 Pro, equipped with a Zenmuse 3X camera (a resolution of 3840×2160 pixels) with a spatial resolution of 5.7–7.8 cm/pixel (in different years).In the structure of frozen lacustrine-alluvial sediments, three GPR complexes are distinguished, corresponding to the active layer and frozen rocks with different amounts of schlieren, lenses and layers of texture-forming ice. The orthophoto map and tacheometric survey analysis showed that the destruction of frost mounds occurs from the second half of April to the first half of October. The most significant relief change is due to the thawing of icy pulverescent clayey silts. It leads to subsidence blocks in the ledge of the Sentsa River terrace. Lateral river thermoerosion also contributes to the frost mounds destruction.В работе представлены результаты георадиолокационных исследований многолетнемерзлых пород и аэрофотосъемки, выполненных на ключевых участках в долине р. Сенца (Окинское плоскогорье, Восточные Саяны).При геофизических исследованиях использовался георадар ОКО-2 в комплекте с экранированным антенным блоком АБ-90, максимальной глубиной зондирования до 20 м и разрешающей способностью 0.5 м. Для учета высотных отметок местности тахеометром Trimble TS635 и дальномером Leiсa DISTO D 510 выполнены гипсометрические измерения с шагом 1.0 м. Аэрофотосъемка проведена дистанционным пилотируемым летательным аппаратом DJI Inspire 1 pro, оснащенным фотокамерой Zenmuse 3X (разрешение 3840×2160 пикселей) с пространственным разрешением 5.7–7.8 см/пиксель (в разные годы).В строении мерзлых озерно-аллювиальных отложений выделены три георадарных комплекса, соответствующих слою сезонного оттаивания и мерзлым породам с различным количеством шлиров, линз и прослоев текстурообразующих льдов. Анализ ортофотоплана местности и результатов тахеометрической съемки показал, что разрушение бугров пучения происходит со второй половины апреля до первой половины октября. Наибольшее изменение морфологии рельефа обусловлено оттаиванием льдистых пылеватых суглинков, что приводит к формированию блоков отседания в уступе террасы р. Сенца. Боковая термоэрозия р. Сенца также способствует разрушению бугров пучения

Болезнь Помпе с поздним началом: предварительные результаты ферментозаместительной терапии

Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results.Болезнь Помпе – орфанная наследственная болезнь накопления, связанная с дефицитом лизосомного фермента алглюкозидазы альфа. Проявления заболевания связаны с патологическим отложением гликогена в тканях организма в результате мутации гена GAA и последующего снижения активности фермента алглюкозидазы альфа или кислой мальтазы. Разнообразие фенотипических форм и разная степень поражения скелетных и дыхательных мышц, кардиомиоцитов и внутренних органов в значительной степени затрудняет постановку диагноза и начало лечения пациентов с болезнью Помпе. Представлен доказанный клинический случай болезни Помпе с поздним началом с оценкой состояния до лечения и предварительные результаты после 4 курсов ферментозаместительной терапии

Late-onset Pompe disease: preliminary results of enzyme replacement therapy

Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results

Oxygen and Hydrogen Isotope Compositions of Lithalsa Frozen Core: A Case Study from the Sentsa River Valley, East Sayan

Mineral permafrost mounds (lithalsas) have been studied in the Sentsa River valley (East Sayan Mountains, western Buryatia). This is the first detailed study of permafrost in the area based on analysis of cryostructures and distribution of stable isotopes in lithalsa intrusive-segregation ice. The lithalsas predominantly have reticulate or lenticular cryostructures and ice contents over 50-60 %. The lateral and vertical δ¹⁸O and δ²H patterns suggest cascade growth with the large lithalsa formed before the small one. Lithalsas can nucleate and grow during progressive lake shallowing. They feed mainly from ground water during freezing of wet frost-susceptible finegrained soil, or less often, from meteoric or lake water. Lithalsas grow quite rapidly, at tens of centimeters per year, and can reach more than 5 meters high in 50-100 years