The objective — To assess the effectiveness of including NIPT in the structure of prenatal diagnostics in Moscow. Material and Methods — Totally 5,181 pregnancies undergoing screening for fetal trisomy using NIPT during the period from 01.04.2020 to 30.09.2020 in Russia. According to the results of biochemical blood test, the patients were divided into two groups: group of high risk (cut-off ≥1:100) (n=208) and group of intermediate risk (cut-off 1:101 – 1:2500) (n=4,973). Patients at high-risk cell-free DNA (cfDNA) were offered an invasive procedure, followed by genetic analysis (cytogenetic or molecular karyotyping). Results — Among the analysed samples, 117 (2.3%) had a high risk of the following common fetal chromosome abnormalities by NIPT: trisomy 21 in 50 cases, trisomy 18 in 17 cases, trisomy 13 in 5 cases, and sex chromosome aneuploidy (SCA) in 22 cases. Additionally, rare autosomal trisomies and/or subchromosomal arrangements were revealed in 23 cases. We found associations between cfDNA concentration and high risk of aneuploidies (particularly trisomy 21) and fetal sex and between low fetal fraction (FF) and body mass index (BMI) as well as maternal weight. Additionally, a high risk of trisomy 21 was associated with the term gestation. Conclusion — The effectiveness of technological resources that are based on cfDNA testing for detecting abnormal fetal chromosome numbers and other chromosomal anomalies is high and reduce rates of false positive results. Therefore, NIPT should be more widely used as a first-line screening method.
Введение и цель. Семейная гиперхолестеринемия (СГХС) распространенное наследственное заболевание, характеризующееся повышенным уровнем холестерина (ХС) липопротеидов низкой плотности (ЛНП) и преждевременным возникновением ишемической болезни сердца. Целью исследования была оценка частоты СГХС у пациентов с диагнозом острого коронарного синдрома (ОКС), поступивших в 2015 г. в клиники, участвующие в федеральном регистре ОКС. Материал и методы В анализ включены данные 924 лиц, из них 554 (60 ) мужчины, средний возраст 6512 лет, госпитализированных по поводу ОКС в 2015 г. При поступлении был выполнен сбор анамнеза для уточнения профиля риска и анализ крови с определением липидного профиля. Результаты Среди 924 пациентов, госпитализированных с диагнозом ОКС, частота возможной СГХС с уровнем общего ХС (ОХС) 7,5 ммоль/л и/или ХС ЛНП 5,0 ммоль/л составила 10 (n95), из них 35 (n33) лица моложе 60 лет артериальная гипертония диагностирована в 85 случаев, сахарный диабет 2-го типа у 15 участников, курение в настоящее время 20. Атеросклеротические сердечно-сосудистые заболевания (ССЗ) имели 65 (n62) человек, из них 24 (n23) лиц ранее перенесли инфаркт миокарда. Средний уровень ОХС составил 7,71,0 ммоль/л, ХС ЛНП 5,80,8 ммоль/л, триглицеридов 1,70,9 ммоль/л, ХС липопротеидов высокой плотности 1,10,2 ммоль/л. При поступлении только 4 (n4) принимали статины. При пересчете исходного уровня ХС ЛНП среди больных, получавших статины в общей группе, доля больных с потенциальной СГХС возросла до 15 (n140). Заключение. Частота возможной СГХС среди больных, госпитализированных по поводу ОКС в 2015 г. достигла 10, из них 2/3 уже имели атеросклеротические ССЗ. Таким образом, полученные результаты могут свидетельствовать о более высокой частоте СГХС среди пациентов, перенесших ОКС. Ключевые слова: регистр, острый коронарный синдром, гиперхолестеринемия, семейная гиперхолестеринемия , статины, холестерин липопротеидов низкой плотности.Aims. Familial Hypercholesterolemia (FH) is a hereditary common disorder that is characterized by elevated level of low-density lipoproteins cholesterol ((LDL-C) and premature coronary heart disease (CHD). The aim of the study was to estimate the frequency of FH among patients with acute coronary syndrome (ACS), admitted in 2015 to clinics participating in the federal ACS registry. Materials and methods: The database included 924 persons (554 (60) men, mean age 65 12 years), hospitalized with ACS in 2015. At the time of hospitalization for ACS were available medical history and lipid profile. Results: Among 924 patients hospitalized for ACS, the frequency of possible FH (total cholesterol level 7.5 mmol/l and/or LDL-C 5.0 mmol/l) was 10 (n95), of which 35 (n33) persons younger than 60 years hypertension is diagnosed in 85 of cases, diabetes mellitus in 15 of participants, smoking - 20. Atherosclerotic cardiovascular diseases (CVD) had 65 (n62) people, of whom 24 (n 23) had previously suffered myocardial infarction. The mean level of total cholesterol was 7.7 1.0 mmol/l, LDL-C was 5.8 0.8 mmol/l, triglycerides was 1.7 0.9 mmol/l, high-density lipoprotein cholesterol was 1,1 0.2 mmol/l. At the time of hospitalization only 4 (n4) used statins. When recalculating the baseline level of LDL cholesterol in patients who used statins in the general group, the part of patients with potential FH increased to 15 (n 140). Conclusion. The frequency of possible FH among patients hospitalized for ACS in 2015 reached 10, of which 2/3 already had atherosclerotic CVD. Therefore, the data may show a higher prevalence of FH in patients presenting with ACS.
Background A fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study—to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow. Methods Based on the first trimester combined prenatal screening results 12,700 pregnant women were classified as a high-risk (cut-off ≥ 1:100) and an intermediate-risk (cut-off 1:101 – 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results from intermediate-risk group were considered for invasive prenatal diagnostic. Results 258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations (p < 0.05) were revealed for fetal fraction (FF) and both for some patient’s (body mass index and weight) and fetus’s (sex and high risk of aneuploidies) characteristics. NIPT showed as a high sensitivity as specificity for common trisomies and SCAs with an overall false positive rate 0.3%. Conclusions NIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown a high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women.
Objective. To study the efficacy and safety of radiofrequency renal denervation with mono-electrode and multi-electrode devices in patients with uncontrolled arterial hypertension during follow-up period. Materials and methods. The study included 42 patients with uncontrolled arterial hypertension (mean age 51±12 years), while receiving multicomponent antihypertensive therapy, including diuretic. All patients underwent radiofrequency denervation of the renal arteries with a mono-electrode (n=27; group A) and multi-electrode devices (n=15; group B). The safety of the procedure was assessed using creatinine and glomerular filtration rate (MDRD equation), as well as according to ultrasound of the kidneys and renal arteries. The effectiveness of the procedure was study according to office blood pressure (BP) and ambulatory BP monitoring (ABPM). Results. In the general group, according to office BP after 6 months, there decreased in systolic (SBP)/diastolic BP (DBP) by 28/13 mm Hg (p=0.000001). According to ABPM, there was a decrease in the average daily SBP by 9 mm Hg (p=0.007) and DBP by 6 mm Hg (p=0.03). No significant changes in creatinine and glomerular filtration rate were detected in the general group. According to ABPM, after 6 months in group B, there was a decrease in the average daily SBP/DBP by 13 and 6 mm Hg (p=0.1). In group A, according to the ABPM, after 6 months, there was a decrease in the average daily SBP and DBP by 7 mm Hg (p=0.001) and 4 mm Hg (p=0.03). After 1 year, according to the office BP, there was a decrease in SBP/DBP by 14/11 mm Hg (p=0.002), and after 3 years at 15/17 mm Hg (p=0.3). Conclusion. The results confirm the safety and efficacy of radiofrequency renal denervation. Renal denervation in combination with drug therapy leads to decreasing of BP after 6 months and in the long-term
The frequency of cardiovascular diseases is increasing progressively with age, and the global aging of the population poses the problem of treatment of patients of older age groups in a row with other relevant medical and socio-economic problems. Aim. In the present study was to investigate the quality of medical care for patients with acute coronary syndrome (ACS) old age and compliance of the treatment current guidelines. The data is exported from the system of the Federal register OKS. Materials and methods. Analyzed medical history 33 893 patients with ACS entered in the system registry of ACS for the period from 01.01.2016 to 31.12.2016. a comparison was made of the quality of care in patients with ACS elderly (75 years and older, n=8773) and in younger patients. Results. The results of the study showed that in patients of senile age, when compared with younger patients, comorbid conditions are significantly more often observed, as well as a significantly higher risk of hospital and 6-month death, calculated on the GRACE scale. Conclusion. Patients of senile age with ACS are almost twice less likely to undergo percutaneous coronary interventions than younger ones, which worsens the prognosis in these patients and increases mortality.
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