Младенческая форма болезни Помпе: клиника, диагностика и лечение

Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.Болезнь Помпе является редким (орфанным) наследственным заболеванием, которое относится к лизосомным болезням накопления и может рассматриваться как сердечный гликогеноз II типа, а также как тяжелое нервно-мышечное заболевание или метаболическая миопатия. Выявляемость данной патологии среди врачей различного профиля крайне низкая, что обусловлено как редкостью патологии, так и клинико-генетическим полиморфизмом заболевания. Наиболее тяжелая форма болезни Помпе – младенческая (инфантильная). Она характеризуется прогредиентностью течения и летальным исходом в течение первого года жизни. Возможность проведения фермент-заместительной терапии при данном заболевании, позволяющая улучшить прогноз и качество жизни пациентов, определяет актуальность ранней диагностики болезни Помпе. В статье описываются клиника, современные методы диагностики и лечения инфантильной формы болезни Помпе. Представлен собственный опыт диагностики и лечения младенческой формы болезни Помпе на основании демонстрации 3 клинических случаев заболевания. Обсуждаются особенности каждого ребенка, подтверждающие клинико-генетическое разнообразие данной патологии

TRANSPUPILLARY THERMOTHERAPY OF THE OPTIC NERVE DISK IN THE TREATMENT OF CENTRAL RETINAL VEIN OCCLUSION

Purpose: to make a pathogenetic basis and assessment of the clinical efficacy of transpupillary thermotherapy (TTT) of the optic nerve disc in central retinal vein occlusion (CRVO). Materials and methods: ophthalmological examination with in-depth study of regional hemodynamics, layered structure of the retina, its electrical sensitivity and neural conductivity in 15 patients with CRVO before and after TTT of the optic nerve disc. Results. After TTT of the optic nerve in patients with CRVO, immediately after treatment visual acuity increased twofold, the thickness of the retina significantly decreased in central and peripapillary regions and indices of high-speed blood flow of central retinal vein improved. In 3-6 months, retinal thickness, ERG indices and visual evoked potentials recovered practically to the level of the fellow eye. It was established that after the TTT of the optic nerve the perfusion in the blood vessels of the retina and optic nerve has improved, which was accompanied by a decrease in the height and the area of ischemic edema in the peripapillary area, improved conduction of impulses along nerve fibers. In contrast to conservative therapy and laser coagulation, after a single session of TTT of the optic nerve, visual function improvement occurred in 89 % of cases. Conclusions. TTT of the optic disc is a highly effective, pathogenetically proved and safe method of treatment purposefully influencing the regional hemodynamics, making possible to achieve positive structural and functional changes of the visual system in CRVO

TACTICS OF TREATMENT FOR PATIENTS WITH RETINAL ARTERIAL MACRO-ANEURYSM

Purpose. To present clinical cases of retinal arterial macroaneurysms with definition of features of clinical course and tactics of its treatment.Material and methods. The medical records of 12 patients which were observed and operated on retinal arterial macroaneurysms at our clinic between 2012 and 2013 were analyzed. All patients underwent a complete ophthalmic examination, including optical coherence tomography of retina and fluorescein angiography. According to clinical course, patients were divided into four groups: asymptomatic form – 3, hemorrhagic form – 2 and exudative form of macro-aneurysm – 6, as well as 1 ruptured macro-aneurysm was defined as a separate group. Patients were examined in dynamic follow-up every second day and 3, 6, 9 months after the surgery.Results. Negative dynamics was not observed in 2 patients in the Group 1, one patient required laser coagulation of macroaneurysm, due to an increased edema of the macular area. In the second group the patients underwent a combined surgery of macro-aneurysm laser coagulation and hyaloid puncture. Postoperative complications were not found, visual acuity was high. The combined laser coagulation was performed in patients with the exudative form of macro-aneurysm course and, if necessary, macular barrage. The positive dynamics was noted in 5 cases. Intravitreal Lucentis was injected to the patient of the group 4 as a first step, and barrage of macular area was made as the second step. In the postoperative period a complete resorption of hard exudates and an improvement in visual acuity were noted.Conclusion. The choice of treatment method of retinal arterial macro-aneurysm depends on the form of the course, localization of macro-aneurysms, complications and their duration

TRANSPUPILLARY THERMOTHERAPY OF THE OPTIC NERVE AS A METHOD OF CHOICE IN THE TREATMENT OF THE CENTRAL RETINAL VEIN OCCLUSION

Purpose. To give the pathogenetic rationale and an evaluation of clinical efficacy of transpupillary thermotherapy of the optic disk in the central retinal vein occlusion.Material and methods. The ophthalmological examination was performed with a profound study of regional hemodynamics, layer-by-layer structure of the retina, their electrical sensitivity and neuroconductivity of 15 patients with central retinal vein occlusion before and after transpupillary thermotherapy of the optic disk.Results. As a result of transpupillary thermotherapy of the optic nerve in patients with central retinal vein occlusion, immediately after treatment twice increase occurs in visual acuity, retinal thickness significantly reduced in the central and peripapillary area and speed index of blood flow improved in the central retinal vein system. After one month there are positive changes in the arterial bed – the speed of blood flow improves in the ophthalmic artery and short posterior ciliary arteries. By 3-6 months this leads to the decrease of retinal thickness and improving оf electroretinogram and visual evoked potentials to the level of the fellow eye. It was revealed that after thermotherapy of optic disc the perfusion in the vessels of the retina and optic nerve has improved, which was accompanied by a decrease in height and area of ischemic edema in the peripapillary area, an improvement of impulses conductivity along nerve fibers. In contrast to conservative therapy and laser coagulation visual function improvement occurred in 89% of cases, after a single session of transpupillary thermotherapy of optic nerve, the negative dynamics in the early and late postoperative period wasn’t identified.Conclusions. Transpupillary thermotherapy of the optic disk is a highly effective and pathogenetically proved and safe method of treatment, which directionally impacts on the regional hemodynamics, enables to achieve positive structural and functional changes in the visual system of the central retinal vein occlusion

THE PROCALCITONIN TEST AS A NEARLY CRITERION TO DIAGNOSE SEVERE FORMS OF INTRAUTERINE INFECTIONS AND TO MONITOR ANTIBACTERIAL TREATMENT IN EARLY NEONATAL PERIOD

Background: Research in the field of reliable and available tests to diagnose infectious and inflammatory disorders in newborns in their first two days of life, as well as for determination of indications to antibacterial treatment and its monitoring in the early neonatal period are of utmost importance. Aim: To improve quality of diagnostics of intrauterine infections and to optimize management strategies for newborns with a high risk of infections by means of the procalcitonin test in the early neonatal period.Materials and methods: We assessed 40 normal (on-term) and 10 pre-term newborns born to mothers with infectious and inflammatory urogenital disease. Group 1 (n = 21) included patients with intrauterine pneumonia, group 2 (n = 6), those with intrauterine infection without a clearly defined primary locus, group 3 (n = 13), those with non-infectious disorders and group 4 (n = 10) comprised clinically normal (healthy) newborns. All infants underwent standard clinical and laboratory assessments, including an assessment of procalcitonin level by means of a semi-quantitative procalcitonin express-test (BRAHMS) at days 1, 2 and 3 of life. Results: At day 1, during primary assessment of newborns from group 1, procalcitonin values above 2 ng/mL were measured in 67% (10 of 15) cases; at days 2 and 3 also in 67% (4 of 6). Two patients with low procalcitonin values (below 0.5 ng/mL) had a disease of viral etiology (in 1, enteroviral and in 1, cytomegaloviral). In group 2, procalcitonin values exceeded 2 ng/mL in 3 of 5 newborns. In none of the infants from groups 3 and 4 procalcitonin values exceeded 2 ng/mL during their first 3 days of life. For assessment of efficacy of antibacterial treatment based on procalcitonin levels, all newborns with intrauterine infections were divided into group А (n = 11), where an antibacterial regimen was changed, and group B (n = 16), with no change in antibacterial treatment. During the treatment, 5 newborns from group A (45.5%) had their procalcitonin levels unchanged, whereas in 6 (54.5%) patients it decreased. In group B, 12 (75%) of newborns had their procalcitonin levels unchanged, in 2 (12.5%) it went down and in 2 (12.5%) of patients it went up. Conclusion: A semi-quantitative procalcitonin expresstest is characterized by its high informativity and availability when used in newborns of various gestation ages in the early neonatal period. An increase of procalcitonin level above 2 ng/mL, starting from the first day of life, can be used as an early diagnostic criterion of severe forms of intrauterine infections associated with systemic inflammatory response and symptoms of organ insufficiency. The results of procalcitonin test can be used for monitoring of antibacterial treatment in newborns

Interaction between nitrogen plasma and tungsten

The set of experiments using a glow discharge of direct current in the mixture of working gases (nitrogen-hydrogen) was carried out in order to choose optimal method of tungsten nitriding. In the result of experiments it was chosen nitriding mode which leads to formation of tungsten nitrides on the surface of irradiated sample. Analysis methods SEM, EDS, X-ray diffraction were used to determine parameters such as the structure, microhardness, phase and element composition of the irradiated tungsten surface, and also the depth of nitrogen penetration into tungsten. The mode of tungsten nitriding, which can be used for studying the effect of plasma and thermal influence on nitrided surface of tungsten (forming of tungsten “fuzz” at nitrided tungsten, sputtering of nitrided tungsten) was determined

Glycogen storage disease type II (Pompe disease) in children

The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan) inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease). Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h), described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease