Epidemiological dynamics of nephropathia epidemica in the Republic of Tatarstan, Russia, during the period of 1997-2013

Copyright © Cambridge University Press 2015.This report summarizes epidemiological data on nephropathia epidemica (NE) in the Republic of Tatarstan, Russia. NE cases identified in the period 1997-2013 were investigated in parallel with the hantavirus antigen prevalence in small rodents in the study area. A total of 13 930 NE cases were documented in all but one district of Tatarstan, with most cases located in the central and southeastern districts. The NE annual incidence rate exhibited a cyclical pattern, with the highest numbers of cases being registered once in every 3-5 years. The numbers of NE cases rose gradually from July to November, with the highest morbidity in adult males. The highest annual disease incidence rate, 64·4 cases/100 000 population, was observed in 1997, with a total of 2431 NE cases registered. NE cases were mostly associated with visiting forests and agricultural activities. The analysis revealed that the bank vole Myodes glareolus not only comprises the majority of the small rodent communities in the region, but also consistently displays the highest hantavirus prevalence compared to other small rodent species

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

Implementation of the Project on the Prevention of Primary Smoking Among Children and Adolescents “I Breathe Freely!”

Annually, tobacco causes almost 6 million deaths, of which more than 5 million cases occur among consumers and former tobacco users, and more than 600,000 are among non-smokers exposed to second-hand smoke. According to the Research Institute of Hygiene and Health Protection of Children and Adolescents, 36,6 % of boys are trying to smoke at 11 years old and earlier (9 years — 18,1 %, 13–14 years — 22,2 %). Among girls, the highest percentage of testers was observed at 13 and 14 years (18,3 % and 16,7 %, respectively). The reasons for the first test are misunderstanding of others, the desire to become an adult, imitation of a bad example, problems in the family, school.Ежегодно табак приводит почти к шести миллионам случаев смерти, из которых более пяти миллионов случаев происходит среди потребителей и бывших потребителей табака и более шестисот тысяч — среди некурящих людей, подвергающихся воздействию вторичного табачного дыма. По данным НИИ гигиены и охраны здоровья детей и подростков ГУ НЦЗД РАМН, 36,6 % мальчиков пробуют курить в 11 лет и раньше (9 лет — 18,1 %, 13–14 лет — 22,2; %). Среди девочек наибольший процент пробующих курение отмечается в 13 и 14 лет (18,3 % и 16,7 % соответственно). Причинами первой пробы становится непонимание окружающих, стремление стать взрослым, подражание плохому примеру, проблемы в семье, школе

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

Клинический случай трансплантации сердца пациенту с саркомой сердца

Primary cardiac sarcoma is a rapidly progressive, aggressive cardiac tumor that is very rare in the general population. Conservative treatment for this tumor is not very effective. The only effective treatment is radical surgical removal of the malignancy. However, if sarcoma removal cannot be performed, heart transplantation (HT) becomes the only treatment option. The median survival of heart recipients with preoperative cardiac sarcoma is 8.5 months. Globally, such operations are performed in a small number of cases. This paper presents the first experience of HT for a patient with primary cardiac sarcoma in the Russian Federation.Первичная саркома сердца – быстропрогрессирующая агрессивная опухоль сердца, встречающаяся весьма редко в общей популяции. Консервативное лечение данной опухоли не имеет высокой эффективности. Единственным эффективным методом лечения является радикальное хирургическое удаление злокачественного новообразования, однако при невозможности выполнения удаления саркомы единственным возможным методом лечения является трансплантация сердца. Медиана выживаемости реципиентов сердца с предоперационным диагнозом «саркома сердца» после выполнения трансплантации сердца составляет 8,5 месяца. Во всем мире такие операции выполняются в небольшом количестве. В статье представлен первый опыт трансплантации сердца пациенту с первичной саркомой сердца на территории Российской Федерации

Pyruvate dehydrogenase complex deficiency – a rare mitochondrial disease in a 4-year-old boy

Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of neurometabolic manifestations. The disease is caused by insuffici ency of this multienzyme complex, which ensures the integration of pyruvate (the carbohydrate metabolism product) into the cellular energy metabolism. This complex deficiency is mostly caused by the mutations in the E1 alpha subunit-encoding PDHA1 (Xp22.1) gene. The article presents a clinical case of a boy with pyruvate dehydrogenase deficiency. The patient was diagnosed on the basis of a combination of clinical, laboratory and instrumental data: retardation in physical and psychomotor development, diffuse muscle hypotension, lactic acidosis, neurological manifestations, thalamus signal changes (according to magnetic resonance imaging of the brain), hemizygous mutations of the 12th exon of the PDHA1 gene during exomic DNA sequencing. We observed positive dynamics against metabolic therapy. The authors emphasize the importance of the timely diagnostics and initiation of metabolic therapy. Late diagnostics causes irreversible complications and significantly worsens the quality of patient’s lif

Epidemiological dynamics of nephropathia epidemica in the Republic of Tatarstan, Russia, during the period of 1997-2013

Copyright © Cambridge University Press 2015.This report summarizes epidemiological data on nephropathia epidemica (NE) in the Republic of Tatarstan, Russia. NE cases identified in the period 1997-2013 were investigated in parallel with the hantavirus antigen prevalence in small rodents in the study area. A total of 13 930 NE cases were documented in all but one district of Tatarstan, with most cases located in the central and southeastern districts. The NE annual incidence rate exhibited a cyclical pattern, with the highest numbers of cases being registered once in every 3-5 years. The numbers of NE cases rose gradually from July to November, with the highest morbidity in adult males. The highest annual disease incidence rate, 64·4 cases/100 000 population, was observed in 1997, with a total of 2431 NE cases registered. NE cases were mostly associated with visiting forests and agricultural activities. The analysis revealed that the bank vole Myodes glareolus not only comprises the majority of the small rodent communities in the region, but also consistently displays the highest hantavirus prevalence compared to other small rodent species