Influence of critical hypotension on the development of postoperative hepatic failure

The article is devoted to the study of influence of critical hypotension on the development of postoperative hepatic failure. The results of treatment of 54 patients who had. anatomical and advanced anatomical resections of a liver were analyzed. Also the causes that lead to the postoperative hepatic failure such as volume of intraoperative blood loss, duration of intraoperative hypotension were analyzed. As the result of the analysis of obtained data on the influence of studied parameters (volume of blood loss, duration. of vascular isolation and presence of intraoperative hypotension) on the development of hepatic failure in postoperative period we supposed that the most unfavorable prognostic sign of its appearance is an episode of critical decrease of arterial pressure during the operation. Thus even at massive blood loss hepatic failure doesn't always appear, whereas critical intraoperative hypotension causes its development. Taking into consideration data on the state of central hemodynamics at the performing of anatomic resections of liver we determined main approaches to the infusion-transfusion therapy during excluding of liver from blood circulation for the prophylactics of its reperfusion injuries. It was established that prophylactics and timely correction of critical intraoperative hypotenstion that is the main factor of development of postoperative hepatic failure should be considered as the key moments of intraoperative protection of hepatocytes

Болезнь Помпе, инфантильная форма (первый случай диагностики в Воронеже)

Pompe disease (PD), or glycogen storage disease type II, is a rare autosomal recessive lysosomal disease caused by glycogen storage in the myocardium, skeletal muscles, and liver. PD, as an orphan disease with a very low prevalence rate, shows a marked clinical polymorphism, making its early diagnosis difficult. Yet, the efficiency of pathogenetic treatment for the disease is closely related to the time of its diagnosis, what is particularly relevant for infantile-onset PD. We present our clinical case of a sick baby with this condition diagnosed during life. The clinical diagnostic criteria were the neonatal form of rapidly progressive hypertrophic cardiomyopathy, macroglossia, floppy baby syndrome. Enzymatic diagnosis in the dried blood spots revealed the low activity of the enzyme α-glucosidase. Direct GAA gene sequencing identified heterozygous mutations in the infant’s parents: с.1799 G>A (p.Arg600His) in his father and c.1951_1952 delGGinsT in his mother, which allows its early prenatal diagnosis at 9-11 weeks of gestation.Болезнь Помпе (БП), или гликогеноз II типа, – редкое аутосомно-рецессивное лизосомное заболевание накопления гликогена в миокарде, скелетных мышцах, печени. БП, являясь орфанным заболеванием с очень низкой частотой распространенности, в то же время отличается выраженным клиническим полиморфизмом, что затрудняют ее раннюю диагностику. Эффективность же патогенетического лечения тесно связана со временем постановки диагноза, что особенно актуально для инфантильной формы БП. Приводим свое клиническое наблюдение больного ребенка с прижизненно диагностированной инфантильной формой БП. Клиническими критериями диагностики явились: неонатальная форма быстро прогрессирующей гипертрофической кардиомиопатии, макроглоссия, синдром «вялого ребенка». При энзимодиагностике в пятнах высушенной крови выявлена низкая активность фермента альфа-глюкозидазы. Методом прямого секвенирования гена GAA у родителей ребенка обнаружены мутации: у отца с.1799 G>A (p.Arg600His) и у матери c.1951_1952 delGGinsT в гетерозиготном состоянии, что делает возможной раннюю, в сроке 9–11 нед беременности пренатальную диагностик

Performance of the NA62 trigger system

The NA62 experiment at CERN targets the measurement of the ultra-rare K+ ->pi+ nu nu decay, and carries out a broad physics programme that includes probes for symmetry violations and searches for exotic particles. Data were collected in 2016–2018 using a multi-level trigger system, which is described highlighting performance studies based on 2018 data

Миотония и миотонические разряды при дистрофической миотонии 1-го типа с ранним дебютом: обзор литературы и описание серии случаев

Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation of muscle” is the leading symptom in DM1 and can occur at any time after onset disease. Myotonia symptoms and electrical myotonia registration are delayed after onset in patients with congenital and infantile forms of DM1. This makes it difficult to diagnose and prevent fatal complications in these patients in a timely manner. Objective: presentation of the clinical data and results of needle electromyography in patients with DM1 onset in the first decade of the life; determination of the first symptoms of the disease, to estimate the age of myotonia and electrical myotonia manifestation for the optimization of the timely diagnostics of the disease.Materials and methods. 13 patients with DM1 aged from 2 months to 34 years were described. 10 patients underwent needle electromyography with analysis of spontaneous activity and needle EMG pattern. The diagnosis was made on the basis of clinical and paraclinical manifestations of the disease and identification of an increase in CTG repeats (>50) in the DMPK gene.Results. The onset with extramuscular signs of respiratory and/or feeding disturbances, dysarthria, school learning disorders, autism spectrum disturbance and “floppy infant syndrome” was noted as the first symptoms of the disease. Clinical myotonia symptoms and electrical manifestations of myotonia were absent in all patients for a long time after the disease onset. DM1 was confirmed in all mothers, however in 5 cases the onset of the disease was later than the first symptoms in patients with congenital and childhood onset forms of DM1.Conclusion. The first symptoms of the congenital and infantile forms of DM1 are not specific and occur in a wide range of diseases. Such discriminating signs of DM1 as clinical myotonia, distal muscle atrophy and electrical myotonia appear much later than the onset disease. In the group of patients before and after the formation of phrasal speech, the presented combinations of symptoms allow diagnostics of the congenital and infantile forms of DM1 at the onset of the disease. In its turn, it allows genetic counseling in burdened families and timely prevention of fatal complications.Введение. Дистрофическая миотония 1‑го типа (ДМ1) – самая частая по распространенности среди мышечных дистрофий любого возраста. Миотония в виде задержки расслабления скелетной мускулатуры при произвольных движениях является ведущим симптомом при ДМ1. Симптомы миотонии и регистрация электрической миотонии отсрочены после дебюта у пациентов с врожденной/детской формой ДМ1, что затрудняет использование их в своевременной диагностике и проведение профилактики летальных осложнений у пациентов с ранним дебютом.Цель исследования – представить клинические данные и результаты игольчатой электромиографии больных с дебютом ДМ1 на 1‑м десятилетии жизни, определить первые симптомы заболевания и возраст появления миотонии и электрической миотонии для оптимизации своевременной диагностики заболевания.Материалы и методы. Приведено описание 13 больных с ДМ1 в возрасте от 2 мес до 34 лет. 10 больным проведена игольчатая электромиография с анализом спонтанной активности и паттерна поражения скелетных мышц. Диагноз подтверждался на основании клинико‑параклинических проявлений заболевания и увеличения CTG‑повторов >50 в гене DMPK.Результаты. Дебют с внемышечной симптоматики в виде нарушения дыхания и/или кормления, дизартрии, нарушения обучения в школе, признаков расстройства аутистического спектра и нозологически неспецифического симптомокомплекса «вялого ребенка» отмечен как первые симптомы заболевания. У всех больных клинические симптомы миотонии и электрические проявления миотонии при игольчатой электромиографии появлялись значительно позже после дебюта. У всех матерей подтверждена классическая форма ДМ1, у одной – ювенильная, однако у 5 женщин заболевание дебютировало позже, чем появились первые симптомы при врожденной или детской форме ДМ1 у их детей.Выводы. Первые симптомы при врожденной и детской форме ДМ1 неспецифичны и встречаются при широком спектре заболеваний, а дискриминирующие признаки ДМ1 в виде клинической миотонии, атрофии дистальных мышц и электрической миотонии появляются много позже дебюта. В группе больных до и после формирования фразовой речи представленные комбинации симптомов позволяют диагностировать врожденную и детскую форму ДМ1 в дебюте заболевания и проводить медико‑генетическое консультирование в семьях с отягощенным анамнезом и своевременную профилактику летальных осложнений

Search for π⁰ decays to invisible particles

The NA62 experiment at the CERN SPS reports a study of a sample of 4 × 109 tagged π0 mesons from K+ → π+π0(γ), searching for the decay of the π0 to invisible particles. No signal is observed in excess of the expected background fluctuations. An upper limit of 4.4 × 10−9 is set on the branching ratio at 90% confidence level, improving on previous results by a factor of 60. This result can also be interpreted as a model- independent upper limit on the branching ratio for the decay K+ → π+X, where X is a particle escaping detection with mass in the range 0.110–0.155 GeV/c2 and rest lifetime greater than 100 ps. Model-dependent upper limits are obtained assuming X to be an axion-like particle with dominant fermion couplings or a dark scalar mixing with the Standard Model Higgs boson

Measurement of the very rare K + → π+νν¯ decay

The NA62 experiment reports the branching ratio measurement BR(K+→π+νν¯)=(10.6−3.4+4.0|stat±0.9syst)×10−11 at 68% CL, based on the observation of 20 signal candidates with an expected background of 7.0 events from the total data sample collected at the CERN SPS during 2016–2018. This provides evidence for the very rare K+→π+νν¯ decay, observed with a significance of 3.4σ. The experiment achieves a single event sensitivity of (0.839 ± 0.054) × 10−11, corresponding to 10.0 events assuming the Standard Model branching ratio of (8.4 ± 1.0) × 10−11. This measurement is also used to set limits on BR(K+→ π+X), where X is a scalar or pseudo-scalar particle. Details are given of the analysis of the 2018 data sample, which corresponds to about 80% of the total data sample