Наследственные спастические параплегии

Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinical signs hereditary spastic paraplegias are divided into uncomplicated (classic) and complicated forms, according to the nature of inheritance – into autosomal dominant, autosomal recessive and X-linked. Mechanisms of the development of hereditary spastic paraplegias depend on the form and could be associated with misfolding of the proteins in endoplasmatic reticulum, mitochondrial dysfunction, changes in the cholesterol metabolism etc. Diagnosis is made after exclusion of other disorders of the central nervous system and could be confirmed by molecular genetic methods. Treatment of hereditary spastic paraplegias is symptomatic.Наследственные спастические параплегии – группа нейродегенеративных заболеваний с преимущественным поражением кортикоспинального тракта, которые проявляются выраженной спастичностью и снижением силы в мышцах нижних конечностей. По клиническим проявлениям выделяют неосложненные (классические) и осложненные формы, по типу наследования – аутосомно-доминантные, аутосомно-рецессивные и Х-сцепленные. Механизмы развития наследственных спастических параплегий зависят от формы заболевания и связаны с мисфолдингом белков в эндоплазматическом ретикулуме, митохондриальной дисфункцией, нарушением метаболизма холестерина и проч. Диагноз наследственных спастических параплегий устанавливается при наличии характерных клинико-анамнестических данных, при исключении других заболеваний центральной нервной системы и подтверждается молекулярно-генетическими методами. Лечение наследственных спастических параплегий симптоматическое

Опыт применения нусинерсена в качестве патогенетической терапии у взрослых пациентов со спинальной мышечной атрофией 5q в Республике Башкортостан

Background. Spinal muscular atrophy (SMA) affects 1 in 11,000 people. Until 2016, this was considered an incurable disease, but after the approval of nusinersen, the situation has changed. The efficacy of nusinersen therapy is also known in adult patients, although research is limited due to the majority of studies in infants and children. Nusinersen has been included in the list of “Vital and Essential Medicines” since 2021.Aim. To analyze the experience of using nusinersen as a pathogenetic therapy for patients over 18 years of age with SMA 5q in the Republic of Bashkortostan.Materials and methods. We examined eight patients receiving pathogenetic therapy with nusinersen (SMA type 2 – 34.5 %, SMA type 3 – 65.5 %). The Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM) were used for evaluating the effectiveness of therapy.Results. The median increase on the HFMSE scale was +2 points (7.5, with the initial 5.5) and on the RULM scale – +4.5 points (17 points, with the initial 12.5). Clinically, this was expressed in an increase in muscle strength, an increase in daily activity; a decrease in bulbar, respiratory and vegetative disorders can also be noted. Subjectively, positive dynamics was noted in the increase in working capacity, improvement of the emotional background.Conclusion. The use of the drug nusinersen in adult patients with SMA 5q in some cases provides clinical improvement. The presence of an “overall response” is defined as clinically significant change in one assessed measure of motor function. Введение. Спинальной мышечной атрофией (СМА) болеет 1 из 13 тыс. человек. До 2016 г. она считалась неизлечимым заболеванием, но после одобрения препарата нусинерсен ситуация изменилась. Эффективность терапии нусинерсеном известна как у взрослых пациентов, так и у детей. С 2021 г. нусинерсен включен в Перечень жизненно необходимых и важнейших лекарственных препаратов для медицинского применения.Цель исследования – проанализировать опыт применения препарата нусинерсен в качестве патогенетической терапии у пациентов старше 18 лет со СМА 5q в Республике Башкортостан.Материалы и методы. Нами были обследованы 8 пациентов, получающих патогенетическую терапию нусинерсеном (СМА 2-го типа – 34,5 %, СМА 3-го типа – 65,5 %). Для оценки эффективности терапии использовались Расширенная шкала оценки моторных функций больницы Хаммерсмит (Hammersmith Functional Motor Scale Expanded, HFMSE) и Пересмотренный модуль оценки моторной функции верхних конечностей (Revised Upper Limb Module, RULM).Результаты. Среднее количество инъекций – 7,25. Возрастание медианы по шкале HFMSE составило +2 балла (7,5; при исходной 5,5 балла), а по шкале RULM – +4,5 балла (17; при исходной 12,5 балла). Клинически это выражалось в увеличении мышечной силы, повышении повседневной активности пациентов; также можно отметить уменьшение бульбарных, дыхательных и вегетативных нарушений. Субъективно положительная динамика выражалась в увеличении работоспособности, улучшении эмоционального фона.Выводы. Применение препарата нусинерсен у взрослых пациентов со СМА 5q в ряде случаев обеспечивает клиническое улучшение. Наличие «ответа в целом» определяется как клинически значимое изменение 1 оцениваемого показателя двигательных функций.

Current status of nuclear cardiology in the Russian Federation

The article is devoted to the analysis of the current status of nuclear cardiology in the Russian Federation. The data on the number of facilities performing radionuclide investigations for the diagnosis and monitoring of the treatment of cardiovascular diseases, their staffing and equipment are given. The statistics of the conducted nuclear cardiology tests for 2018-2020 are given, as well as their methods, features and diagnostic significance are described

Analysis of the restoration of cardiology diagnostics scope in the Russian Federation during the COVID-19 pandemic: results of the Russian segment of the INCAPS COVID 2 study under the auspices of the International Atomic Energy Agency

Aim. To assess the changes in cardiology diagnostics scope in the Russian Federation during the coronavirus disease 2019 (COVID-19) pandemic.Material and methods. In an online survey organized by the Division of Human Health of the International Atomic Energy Agency (IAEA), including questions about changes in the workflow of diagnostic laboratories and the scope of cardiac diagnostics from March 2019 (pre-pandemic) to April 2020 (first wave of the pandemic) and April 2021 (recovery stage), 15 Russian medical centers from 5 cities took part.Results. The decrease in the diagnostics scope by April 2020 by 59,3% compared to March 2019, by April 2021, stopped and was replaced by growth (+7,1%, the recovery rate, 112,1%). The greatest increase was in routine examinations, such as echocardiography (+11,6%), stress echocardiography (+18,7%), stress single photon emission computed tomography (+9,7%), and to a lesser extent resting computed tomography angiography (+7,0%) and magnetic resonance imaging (+6,6%). The performance of stress electrocardiography, stress magnetic resonance imaging and positron emission tomography for the diagnosis of endocarditis in April 2021 compared to March 2019 decreased by 10,3%, 63,2% and 62,5%, respectively.Conclusion. Due to the resumption of patient admissions for cardiac examinations during the ongoing COVID-19 pandemic, with the anti-epidemic measures taken and certain changes in the workflow, there has been a recovery in the diagnostics scope in most of the included centers

Gaucher disease type 2 (case report)

The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit

Impact of the first wave of coronavirus disease 2019 (COVID-19) pandemic on the diagnosis of heart disease in the Russian Federation: results from the Russian segment of the IAEA INCAPS COVID study

Aim. To assess the impact of the first wave of coronavirus disease 2019 (COVID-19) pandemic on the diagnosis of heart disease in the Russian Federation.Material and methods. Fifteen Russian medical centers from 5 cities took part in an online survey organized by the Division of Human Health of the International Atomic Energy Agency (IAEA), containing questions regarding alterations in cardiovascular procedure volumes resulting from COVID-19 in March-April 2020.Results. A number of outpatients undergoing cardiac diagnostic procedures was noted in 80% of clinics. Cardiovascular procedure volumes in the period from March 2019 to March 2020 in general decreased by 9,5%, and from March 2019 to April 2020, by 56,5%. Stress electrocardiography decreased by 38,4%, stress echocardiography by 72,5%, stress single-photon emission computed tomography by 66,9%, computed tomography angiography by 49,7%, magnetic resonance imaging by 42,7%, invasive coronary angiography by 40,7%. The decrease in diagnostic procedure volumes in selected regions (Tomsk Oblast, Kemerovo Oblast, Tatarstan) was not so pronounced compared to Moscow and St. Petersburg (-20,7%, -75,2%, -93,8% in April 2020, respectively, p<0,001).Conclusion. The first wave of the COVID-19 pandemic caused a sharp decrease in the number of diagnostic cardiac procedures in Russia. This has potential longterm implications for patients with cardiovascular disease. Understanding these implications can help guide diagnostic strategies during the ongoing COVID-19 pandemic and minimize the future losses

Impact of the first wave of coronavirus disease 2019 (COVID-19) pandemic on the diagnosis of heart disease in the Russian Federation: results from the Russian segment of the IAEA INCAPS COVID study

Aim. To assess the impact of the first wave of coronavirus disease 2019 (COVID-19) pandemic on the diagnosis of heart disease in the Russian Federation. Material and methods. Fifteen Russian medical centers from 5 cities took part in an online survey organized by the Division of Human Health of the International Atomic Energy Agency (IAEA), containing questions regarding alterations in cardiovascular procedure volumes resulting from COVID-19 in March-April 2020. Results. A number of outpatients undergoing cardiac diagnostic procedures was noted in 80% of clinics. Cardiovascular procedure volumes in the period from March 2019 to March 2020 in general decreased by 9,5%, and from March 2019 to April 2020, by 56,5%. Stress electrocardiography decreased by 38,4%, stress echocardiography by 72,5%, stress single-photon emission computed tomography by 66,9%, computed tomography angiography by 49,7%, magnetic resonance imaging by 42,7%, invasive coronary angiography by 40,7%. The decrease in diagnostic procedure volumes in selected regions (Tomsk Oblast, Kemerovo Oblast, Tatarstan) was not so pronounced compared to Moscow and St. Petersburg (-20,7%,-75,2%,-93,8% in April 2020, respectively, p<0,001). Conclusion. The first wave of the COVID-19 pandemic caused a sharp decrease in the number of diagnostic cardiac procedures in Russia. This has potential long-term implications for patients with cardiovascular disease. Understanding these implications can help guide diagnostic strategies during the ongoing COVID-19 pandemic and minimize the future losses