Pompe disease clinical and laboratory diagnostic features

Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its main clinical and laboratory characteristics based on the results of laboratory and instrumental studies that allow to select such patients into the screening group for enzymatic diagnosis in dried blood spots was the objective of this study. Materials and methods. In a period from 2002 to 2016, 522 children with PD suspicion were examined in the Center of Orphan Diseases of National Children’s Specialized Hospital “Ohmatdyt”. There were 282 boys and 240 girls aged from 4 months to 13 years. Results. According to electroneuromyography results and mutations in SMN gene revealing, spinal muscular atrophy was diagnosed in 98 (19 %) patients, Duchenne primary muscular dystrophy — in 70 (13 %). 71 (13.6 %) patients had different forms of hereditary neuropathy. In 38 (7.2 %) cases, the dominant type of disease inheritance was revealed, later we did not provide laboratory tests in those patients in order to confirm the PD diagnosis. Thus, 245 (47 %) patients were included into the selective (screening) group for enzymatic diagnosis using dried blood spot. In these patients, a heterogeneous clinical picture of the disease was noted: muscle weakness due to myopathic syndrome in combination with cardiomyopathy, delay in physical development, hyperCKemia. Twenty five patients aged 2 to 8 months besides myopathic syndrome had elevated levels of alanine aminotransferase and aspartate aminotransferase, creatine phosphokinase (more than 220 U/l), lactate dehydrogenase (more than 250 U/l), left ventricular hypertrophic cardiomyopathy; also in 10 patients, hepatomegaly and cardiopulmonary failure were revealed. Based on enzymatic tests, PD diagnosis (infantile form) was established in 5 patients (in 3 cases — classical form, in 2 cases — atypical). The clinical picture was heterogeneous, however, in all cases, slow increase in body weight, delay of static and kinetic skills forming were noted. Three patients receive enzyme replacement therapy. This allowed to prevent early death, and in one case, it was almost possible to restore independent walking. Conclusions. PD in children is characterized by different system failure and various clinical forms, in specific treatment absence, PD leads to patients’ early death. The PD main manifestations in children are hypertrophic cardiomyopathy, myopathic syndrome in combination with a specific biochemical phenotype. Enzymatic diagnosis in dried blood spots in the group of selective screening will increase the effectiveness of PD early diagnosis and treatment in children

Нові матеріали на основі тіофену для випромiнювальних шарів органічних світлодіодів

Optoelectronic display devices have gained an important role in the modern world. Digital displays based on organic light-emitting diodes are taking one of the leading places among other displays due to high contrast and highquality color gamut. The relative novelty of the technology is the reason for the insufficient number of researched materials for use in layers of organic light-emitting diodes. This paper analyzes the properties of molecular structures based on thiophene heterocycles, as well as the feasibility of their use for displays on exclusively organic light-emitting diodes and in complex technologies, such quantum dots color converter. Three thiophene structures of type T (thiophene), TB (thiophene-benzene), TPy (thiophene-pyrrole) were chosen for the study. Modeling and computing of characteristics of molecular structures was performed with the software for quantum chemical calculations Gaussian 09 due to the wide range of quantum chemical methods implemented in it, as well as high efficiency and convenient user interface. With the help of the selected software, modeling of molecules, optimization by B3LYP methods, and the values of HOMO and LUMO energy levels were calculated. Emission and absorption spectra of T, TB and TPy type structures were obtained. Based on the obtained results, the possible application of structures in the emitting layers of organic LEDs was determined. T-type molecules can be used as a material for creating a self-emitting layer for organic lightemitting diodes in the visible wavelength range. Molecules of the TB-type are suitable for creating devices with radiation in the ultraviolet range. Molecules of the TPy-type have no prospects for use in direct OLED radiation, but their characteristics allow us to propose these structures as sources of exciting radiation for the creation of devices with light color conversion technologies.Оптоелектронні пристрої відображення інформації відіграють важливу роль у сучасному світі. Цифрові дисплеї на органічних світлодіодах посідають одне з провідних місць серед інших дисплеїв завдяки високій контрастності та якісний кольоропередачi. Відносна новизна технології є причиною недостатньої кількості досліджених матеріалів для використання в шарах органічних світлодіодів. У цій роботі проаналізовано властивості молекулярних структур на основі тiофенових гетероциклiв, а також доцільність їхнього використання для дисплеїв на виключно органічних світлодіодах i в комплексних технологіях, таких як конвертер кольору на квантових точках. Для дослідження було обрано три тіофенові структури типу Т (тiофен), TB (тiофен-бензол), TPy (тіофен-пірол). Моделювання i дослідження молекулярних структур виконано за допомогою програмного пакету для квантовохімічних розрахунків Gaussiаn 09 через широкий спектр реалізованих в ньому квантово-хімічних методів, високу ефективність та зручний інтерфейс користувача. В обраному програмному забезпеченні проведено моделювання молекул, оптимізація методами B3LYP та обраховано значення енергій HOMO та LUMO рівнів. Отримано спектри випромінювання та поглинання структур типу Т, ТВ та ТРу. На основі отриманих результатів визначено можливе застосування структур у випромінювальних шарах органічних світлодіодів. Молекули типу Т можуть використовуватись як матеріал для створення самостійного випромінювального шару для органічних світлодіодів у видимому діапазоні довжин хвиль. Молекули типу ТВ придатні для створення пристроїв з випромінюванням в ультрафіолетовому діапазоні. Молекули типу ТРу не мають перспектив використання у безпосередньому випромінюванні OLED, проте їхні характеристики дозволяють пропонувати ці структури за джерела збуджуючого випромінювання для створення пристроїв з технологіями перетворення кольору світла

The structure of interstitial lung diseases in children of the first two years of life

For the first time in Russia, the article provides data on interstitial lung diseases structure in children of the first two years of life, based on a series of observations of 68 patients with these rare diseases, as a part of multi-center ambispective study. Interstitial lung diseases in observed children included: Wilson-Mikity syndrome (23,4%), neuroendocrine hyperplasia of infancy (22%), bronchiolitis obliterans with organizing pneumonia (7,4%), primary pulmonary hypoplasia (1,5%), secondary pulmonary hypoplasia with Jeune syndrome (10,3%), secondary pulmonary hypoplasia with Edwards syndrome (2,9%), secondary pulmonary hypoplasia with other associated pathology (omphalocele - 1,5%, non-immune fetal hydrops - 1,5%), subpleural cysts in patients with Down syndrome (5,9%), congenital deficiency of surfactant protein B (1,5%), brain-lung- thyroid syndrome (2,9%), congenital alveolar-capillary dysplasia (1,5%), interstitial lung diseases with systemic diseases (Langerhans cell histiocytosis - 16,2%, Niemann-Pick disease - 1,5%). The article summarizes clinical features, the results of image diagnosis and disease outcomes. © 2015, Pediatria Ltd. All rights reserved

The structure of interstitial lung diseases in children of the first two years of life

For the first time in Russia, the article provides data on interstitial lung diseases structure in children of the first two years of life, based on a series of observations of 68 patients with these rare diseases, as a part of multi-center ambispective study. Interstitial lung diseases in observed children included: Wilson-Mikity syndrome (23,4%), neuroendocrine hyperplasia of infancy (22%), bronchiolitis obliterans with organizing pneumonia (7,4%), primary pulmonary hypoplasia (1,5%), secondary pulmonary hypoplasia with Jeune syndrome (10,3%), secondary pulmonary hypoplasia with Edwards syndrome (2,9%), secondary pulmonary hypoplasia with other associated pathology (omphalocele - 1,5%, non-immune fetal hydrops - 1,5%), subpleural cysts in patients with Down syndrome (5,9%), congenital deficiency of surfactant protein B (1,5%), brain-lung- thyroid syndrome (2,9%), congenital alveolar-capillary dysplasia (1,5%), interstitial lung diseases with systemic diseases (Langerhans cell histiocytosis - 16,2%, Niemann-Pick disease - 1,5%). The article summarizes clinical features, the results of image diagnosis and disease outcomes. © 2015, Pediatria Ltd. All rights reserved