Storage diseases (thesaurismosis, storage reticuloses) are the complex and extensive group of diseases in which differential diagnosis of pathological changes from the internal organs is difficult. For diagnosis and dynamic observation of liver and spleen lesions, ultrasound and X-ray computed tomography are used among imaging techniques. Among the imaging techniques for diffuse liver diseases, ultrasonography and X-ray computed tomography are most commonly used for their diagnosis and follow-up. Magnetic resonance imaging (MRI) has the highest sensitivity and specificity in diagnosing liver diseases.The article considers the current MRI procedures that are used to diagnose storage diseases and to quantify found changes. For Gaucher disease, the potentials of such novel technique as magnetic resonance spectroscopy are described. Incorporation of MRI into the examination algorithm for patients with storage diseases will be able to improve the detection of these rare diseases and to monitor the efficiency of performed therapy.

Introduction. Gaucher disease (GD) belongs to the group of lysosomal storage diseases. Enzyme replacement therapy (ERT) is considered to be the current standard in GD treatment. No reduced ERT regimen has thus far been developed. Aim. To develop an optimal reduced ERT regimen for adult patients with type I GD, which is scientifically and economically viable.Materials and methods. The study included 100 adult patients with type I GD who achieved treatment goals following at least two years of the standard ERT regimen. Patients were prescribed a reduced ERT regimen, which consisted in increasing the interval between the infusions of the recombinant enzyme up to 4 weeks, at a dose of 15–20 units/kg of body weight. The efficacy of the reduced ERT regimen was assessed once every 12 months according to main GD parameters. The follow-up period in the study ranged from 12 to 36 months.Results. The patients with type I GD who achieved treatment goals following the standard ERT regimen and were then prescribed a reduced ERT regimen retained a stable therapeutic effect of the initial treatment according to all parameters: no clinically significant differences found in haemoglobin and platelet levels, spleen size and specific infiltration of femur bone marrow.Conclusion. An increase in the intervals between infusions of the recombinant glucocerebrosidase up to 4 weeks for 12, 24 and 36 months did not lead to worsening of the laboratory and instrumental parameters associated with GD.

Background . The study of influence of residual tumor mass, determined by magnetic resonance imaging (MRI), on the progression-free survival (PFS) remains an actual problem. Since the visual assessment of tumor bone marrow lesion can be one of the criteria for the subsequent personalized treatment choice in multiple myeloma patients.The objective of study was to determine the effect of bone marrow lesions detected by MRI after autologous hematopoietic stem cells transplantation (auto-HSCT) on PFS in multiple myeloma patients.Materials and methods . The prospective study included 60 patients who underwent spine and pelvic bones MRI on the 100 th day after autoHSCT.Results . Focal bone marrow changes were found in 47 of them – from 1 to 56 lesions (mean 6 ± 9). Significant (p = 0.01) differences of PFS in multiple myeloma patients depending on the presence or absence of tumor mass on 100 th day after auto-HSCT were revealed: with MRI negative status, 2-year PFS was 89 % versus 50 % in a group of patients with residual tumor mass.Conclusion . MRI-negative status after auto-HSCT is a favorable prognostic factor contributing to prolonged disease-free survival.

РезюмеБолезнь Гоше (БГ) -это аутосомно-рецессивная лизосомная болезнь накопления, вызванная дефицитом фермента глюкоцереброзидазы, который участвует в деградации гликосфинголипидов. Поражение костно-суставной системы является одним из основных проявлений заболевания и встречается у 70-100% пациентов. Однако редкость БГ, неспецифические и гетерогенные клинические проявления, сходная с рядом других заболеваний лучевая семиотика могут затруднять дифференциальную диагностику. Цель исследования: представить лучевую семиотику поражений костно-суставной системы при БГ I типа. Определить роль МРТ в диагностике и оценке степени тяжести поражения костно-суставной системы у пациентов с БГ I типа. Материал и методы. Ретроспективно проанализированы данные рентгенограмм и МР-томограмм бедренных костей с захватом тазобедренных и коленных суставов 86 пациентов с диагнозом БГ I типа. Исследования были выполнены до начала специфической терапии. Оценивалось специфическое вовлечение костного мозга в патологический процесс. Определялись изменения костей и суставов, параартикулярных структур и мягких тканей. Результаты. Показан спектр изменений костно-суставной системы у пациентов с БГ I типа. Выявлено, что при БГ поражение костей может носить обратимый и необратимый характер. МРТ является чувствительным методом диагностики обратимых изменений костной системы при БГ. Заключение. Лучевая семиотика поражений костно-суставной системы у пациентов с БГ I типа достаточно типичная и вместе с тем крайне вариабельная. МРТ является «золотым стандартом» современной диагностики поражения костей при БГ. Ключевые слова: болезнь Гоше; поражение костно-суставной системы; лучевая семиотика; МРТ Конфликт интересов: авторы заявляют об отсутствии конфликтов интересов. Финансирование: исследование не имело спонсорской поддержки.

Introduction. Induction chemotherapy (CT) for primary diffuse large B-cell lymphoma (DLBCL) of the central nervous system (CNS) is based on the use of methotrexate in high doses. An optimal consolidation strategy involves high-dose chemotherapy followed by autologous haematopoietic stem cell transplantation (auto-HSCT). The most effective conditioning regimen comprises a combination of chemotherapy agents including thiotepa.Aim. To present the authors’ experience of applying auto-HSCT/TBC in patients with primary DLBCL of the CNS.Methods. The prospective study CNS-2015 was carried out among 20 patients aged 20–52 years (median 42 years old) from 2015 to 2019. The male/female ratio came to 13/7. The somatic status of 17 (85 %) patients was 0–1 on the ECOG scale. Only 3 (15 %) patients showed the somatic status of 4 points. According to the criteria of the MSKCC prognostic system, 18 (90 %) and 2 (10 %) patients were assigned to the low-risk and medium-risk groups, respectively.Results. All patients included in the study received 3–5 cycles of chemotherapy with high doses of methotrexate, vincristine, procarbazine and rituximab (R-MPV), as well as underwent auto-HSCT following TBC-based conditioning regimen (thiotepa, busulfan, cyclophosphamide). Prior to auto-HSCT, 15 and 5 out of 20 patients having completed induction chemotherapy achieved complete remission and partial remission, respectively. Following auto-HSCT, complete remission was achieved in 5 patients with an initial partial response to treatment. All patients underwent temozolomide maintenance therapy for 2 years. With a median follow-up of 17 (1–46) months, 18 patients are alive and in remission. Two patients, who relapsed 4 and 5 months after auto-HSCT and achieved no response to the second line of chemotherapy and radiation therapy, died 24 and 26 months after auto-HSCT.Conclusion. R-MPV is an effective treatment for patients with primary DLBCL of CNS, which is not accompanied by severe toxicity. The use of high-dose chemotherapy with TBC allows a high remission rate to be achieved. The mortality associated with treatment in the group of patients included in the study came to 0 %.