First experimental results obtained using the highpower free electron laser at the siberian center for photochemical research

The first lasing near the wavelength of 140 µm was achieved in April 2003 using a high-power free electron laser (FEL) constructed at the Siberian Center for Photochemical Research. In this paper we briefly describe the design of the FEL driven by an accelerator–recuperator. Characteristics of the electron beam and terahertz laser radiation, obtained in the first experiments, are also presented in the paper.У Сибірському центрі фотохімічних досліджень навесні 2003 року отримана генерація випромінювання з довжиною хвилі 140 мкм на потужному лазері на вільних електронах (ЛВЕ). У роботі коротко описана конструкція ЛВЕ на базі прискорювача рекуператора і представлені результати вимірювання деяких параметрів електронного пучка і терагерцового випромінювання.В Сибирском центре фотохимических исследований весной 2003 года получена генерация излучения с длиной волны 140 мкм на мощном лазере на свободных электронах (ЛСЭ). В работе кратко описана конструкция ЛСЭ на базе ускорителя рекуператора и представлены результаты измерения некоторых параметров электронного пучка и терагерцового излучения

CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

The data of different firms of hereditary galactosemia was analyzed in this article. Clinical and biochemical characteristics and molecular and genetic features of diagnostics of this disease were described. The information about differential diagnosis and problems, related with hereditary galactozemia screening in Russia was given.Key words: children, galactosemia, treatment, screening

A CASE OF PERSISTANT INTRACRANIAL HYPERTENSION IN A 7 YEARS OLD GIRL WITH MULTIPLE HEREDITARY EXOSTOSIS AND CRANIOSTENOSIS

The article demonstrates a case of rare hereditary syndrome observation — with the multiple hereditary exostosis (MHE) syndrome in a 7 years old girl. The article covers hereditary and clinical features and life prognosis of the syndrome.Key words: intracranial hypertension, multiple hereditary exostosis (MHE) syndrome, craniostenosis, children.</strong

A CLINICAL CASE: DIAGNOSTICS OF SHERESHEVSKY TERNER SYNDROME WITH MULTIPLE CONGENITAL ANOMALIES IN MAIN ARTERIES OF A 4 YEAR OLD CHILD, SUFFERING FROM ARTERIAL HYPERTENSION

The article provides a substantiation for the differential diagnostics of the symptomatic arterial hypertension of a 4 year old child, suffering from the arterial hypertension of the presumably renoparenchymal origin. In the course of the clinical examination, the researchers found out coarctation of aorta and hypoplasia of the right renal artery as a part of Shereshevsky-Terner syndrome.Key words: arterial hypertension, Shereshevsky-Terner syndrome, coarctation of aorta, renovascular hypertension

GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT

The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N or O glycosylation. Manifestations of the disease are protein losing enteropathy and severe developmental delay, hypoglycemia, co agulopathy (thrombosis), liver injury. glycosylation disorder syndrome type 1b differs from other types of this group absence of the neurologic semiology and efficiency of therapy by mannose.Key words: glycoproteins, glycosylation disorders, manifestations, mannose, children

GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT

The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N or O glycosylation. Manifestations of the disease are protein losing enteropathy and severe developmental delay, hypoglycemia, co agulopathy (thrombosis), liver injury. glycosylation disorder syndrome type 1b differs from other types of this group absence of the neurologic semiology and efficiency of therapy by mannose.Key words: glycoproteins, glycosylation disorders, manifestations, mannose, children

СИНДРОМ НАРУШЕНИЯ ГЛИКОЗИЛИРОВАНИЯ 1b ТИПА: ДИАГНОСТИКА И ЛЕЧЕНИЕ

The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N or O glycosylation. Manifestations of the disease are protein losing enteropathy and severe developmental delay, hypoglycemia, co agulopathy (thrombosis), liver injury. glycosylation disorder syndrome type 1b differs from other types of this group absence of the neurologic semiology and efficiency of therapy by mannose.Key words: glycoproteins, glycosylation disorders, manifestations, mannose, children.Представлен клинический случай редкой наследственной болезни — синдрома нарушения гликозилирования 1b типа, не описанного еще в отечественной литературе и впервые диагностированного в нашей стране. Синдром нарушения гликозилирования 1b типа относится к гетерогенной группе наследственных болезней, характеризующейся нарушением биосинтеза гликопротеинов в связи с дефектом процессов их N- и О-гликозилирования. Клинически болезнь проявляется экссудативной энтеропатией с потерей белка и отставанием физического развития, гипогликемией, коагулопатией с развитием тромбозов, поражением печени. Синдром нарушения гликозилирования 1b типа отличается от других типов этой группы отсутствием неврологической симптоматики и эффективностью терапии маннозой. Ключевые слова: гликопротеины, карбогидратная недостаточность, фосфоманнозоизомераза, энтеропатия, тромбоз, манноза, гипогликемия, гиперинсулинизм, фиброз печени, дети.(Педиатрическая фармакология. – 2008;5(5):31-33