Nonketotic hyperglycinemia: case report

Nonketotic hyperglycinemia is а гаге autosomal recessive metabolic encephalopathy usually presenting in the neonatal period. It is an inborn error of glycine metabolism caused by deficiency in the glycine cleavage system and characterized by the accumulation of glycine in all body tissues. We introduced a newborn presented on the third day of life with hypotonia, poor feeding, apnea and coma. We performed extensive investigations before reaching the diagnosis including metabolic screen, electroencephalography, and magnetic resonance imaging. We discuss the importance of early recognition of symptoms, using selective metabolic screen to have a clear prognosis. It also helps in genetic counseling and prenatal diagnosis can be offered at the subsequent pregnancy.Некетотическая гиперглицинемия (НКГ) - редкая форма аутосомно-рецессивной метаболической энцефалопатии, вызванная дефектом глицин-расщепляющей ферментной системы, приводящим к накоплению глицина во всех тканях организма. Мы приводим клиническое наблюдение младенца, который на третьи сутки жизни развил мышечную гипотонию, апноэ и кому. Для подтверждения диагноза мы использовали селективный биохимический скрининг, а также данные нейровизуализации и электроэнцефалографии. В статье обсуждается важность ранней диагностики для определения прогноза заболевания, а так же для получения возможности пренатальной диагностики последующих беременностей в семье

Simulink models of technological systems with perfect mixing and plug-flow hydrodynamics

The dynamic models of elements of technological systems with perfect mixing and plug-flow hydrodynamics are based on the systems of algebraic and differential equations that describe a change in the basic technological parameters. The main difficulty in using such models in MathWorks Simulink™ computer simulation systems is the representation of ordinary differential equations (ODE) and partial differential equations (PDE) that describe the dynamics of a process as a MathWorks Simulink™ block set. The study was aimed at developing an approach to the synthesis of matrix dynamic models of elements of technological systems with perfect mixing and plug-flow hydrodynamics that allows for transition from PDE to an ODE system on the basis of matrix representation of discretization of coordinate derivatives. The process of synthesis of the dynamic matrix mathematical model was considered by the example of a sugar syrup cooler, the quality indicator of the finished product are selected as sucrose crystals and their portion in the total volume of caramel mass. Taking into account the dependence of syrup viscosity on temperature, thermal effects as a result of the process of crystallization of sucrose from syrup, design features of a typical caramel machine made it possible to clarify the dynamics of the process of syrup cooling. The model developed with this approach allows to obtain real-time estimates of temperatures at the outlet of the cooler, which makes it possible to study the dynamics of the technological process and synthesize the control system. The presented approach allows to implement mathematical models of ideal reactors in Simulink system and to move to matrix ordinary differential equations, which makes it possible to convert them into Simulink blocks. The approach is also applicable to other models of ideal reactors, which allows to form libraries of typical ideal reactors of Simulink system for synthesis of heat and mass exchange equipment. The proposed approach significantly simplifies the study and modernization of the current and the development of new technological equipment, as well as the synthesis of algorithms for controlling the processes therein