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Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
Objective
One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management.
Methods
This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort.
Results
Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p < 0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p < 0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P < 0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p = 0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P < 0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p = 0.008).
Conclusions
High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals
Communications Biophysics
Contains research objectives, summary of research and reports on four research projects.National Institutes of Health (Grant 5 P01 GM14940-05)National Institutes of Health (Grant 5 TOl GM01555-05)National Aeronautics and Space Administration (Grant NGL 22-009-304)B-D ElectrodyneBoston City Hospital Purchase Order 1065
Performance of prenatal cfDNA screening for sex chromosomes.
PURPOSE: The aim of this study was to assess the performance of cell-free DNA (cfDNA) screening to detect sex chromosome aneuploidies (SCAs) in an unselected obstetrical population with genetic confirmation. METHODS: This was a planned secondary analysis of the multicenter, prospective SNP-based Microdeletion and Aneuploidy RegisTry (SMART) study. Patients receiving cfDNA results for autosomal aneuploidies and who had confirmatory genetic results for the relevant sex chromosomal aneuploidies were included. Screening performance for SCAs, including monosomy X (MX) and the sex chromosome trisomies (SCT: 47,XXX; 47,XXY; 47,XYY) was determined. Fetal sex concordance between cfDNA and genetic screening was also evaluated in euploid pregnancies. RESULTS: A total of 17,538 cases met inclusion criteria. Performance of cfDNA for MX, SCTs, and fetal sex was determined in 17,297, 10,333, and 14,486 pregnancies, respectively. Sensitivity, specificity, and positive predictive value (PPV) of cfDNA were 83.3%, 99.9%, and 22.7% for MX and 70.4%, 99.9%, and 82.6%, respectively, for the combined SCTs. The accuracy of fetal sex prediction by cfDNA was 100%. CONCLUSION: Screening performance of cfDNA for SCAs is comparable to that reported in other studies. The PPV for the SCTs was similar to the autosomal trisomies, whereas the PPV for MX was substantially lower. No discordance in fetal sex was observed between cfDNA and postnatal genetic screening in euploid pregnancies. These data will assist interpretation and counseling for cfDNA results for sex chromosomes
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
BACKGROUND: Historically, prenatal screening has focused primarily on the detection of fetal aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy number variants, including 22q11.2 deletion syndrome (or DiGeorge syndrome), which is the most common microdeletion and a leading cause of congenital heart defects and neurodevelopmental delay. Although smaller studies have demonstrated the feasibility of screening for 22q11.2 deletion syndrome, large cohort studies with confirmatory postnatal testing to assess test performance have not been reported. OBJECTIVE: This study aimed to assess the performance of single-nucleotide polymorphism-based, prenatal cell-free DNA screening for detection of 22q11.2 deletion syndrome. STUDY DESIGN: Patients who underwent single-nucleotide polymorphism-based prenatal cell-free DNA screening for 22q11.2 deletion syndrome were prospectively enrolled at 21 centers in 6 countries. Prenatal or newborn DNA samples were requested in all cases for genetic confirmation using chromosomal microarrays. The primary outcome was sensitivity, specificity, positive predictive value, and negative predictive value of cell-free DNA screening for the detection of all deletions, including the classical deletion and nested deletions that are β₯500 kb, in the 22q11.2 low-copy repeat A-D region. Secondary outcomes included the prevalence of 22q11.2 deletion syndrome and performance of an updated cell-free DNA algorithm that was evaluated with blinding to the pregnancy outcome. RESULTS: Of the 20,887 women enrolled, a genetic outcome was available for 18,289 (87.6%). A total of 12 22q11.2 deletion syndrome cases were confirmed in the cohort, including 5 (41.7%) nested deletions, yielding a prevalence of 1 in 1524. In the total cohort, cell-free DNA screening identified 17,976 (98.3%) cases as low risk for 22q11.2 deletion syndrome and 38 (0.2%) cases as high risk; 275 (1.5%) cases were nonreportable. Overall, 9 of 12 cases of 22q11.2 were detected, yielding a sensitivity of 75.0% (95% confidence interval, 42.8-94.5); specificity of 99.84% (95% confidence interval, 99.77-99.89); positive predictive value of 23.7% (95% confidence interval, 11.44-40.24), and negative predictive value of 99.98% (95% confidence interval, 99.95-100). None of the cases with a nonreportable result was diagnosed with 22q11.2 deletion syndrome. The updated algorithm detected 10 of 12 cases (83.3%; 95% confidence interval, 51.6-97.9) with a lower false positive rate (0.05% vs 0.16%; P<.001) and a positive predictive value of 52.6% (10/19; 95% confidence interval, 28.9-75.6). CONCLUSION: Noninvasive cell-free DNA prenatal screening for 22q11.2 deletion syndrome can detect most affected cases, including smaller nested deletions, with a low false positive rate
Cell-free DNA screening for trisomies 21, 18 and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.
BACKGROUND: Cell-free DNA (cfDNA) non-invasive prenatal screening for trisomy (T) 21, 18, and 13 has been rapidly adopted into clinical practice. However, prior studies are limited by lack of follow up genetic testing to confirm outcomes and accurately assess test performance, particularly in women at low-risk for aneuploidy. OBJECTIVE: To compare the performance of cfDNA screening for T21, T18 and T13 between women at low and high-risk for aneuploidy in a large, prospective cohort with genetic confirmation of results. STUDY DESIGN: A multicenter prospective observational study at 21 centers in 6 countries. Women who had SNP-based cfDNA screening for T21, T18 and T13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. Test performance and test failure (no-call) rates were assessed for the cohort and women with low and high prior risk for aneuploidy were compared. An updated cfDNA algorithm, blinded to pregnancy outcome, was also assessed. RESULTS: 20,194 were enrolled at median gestational age of 12.6 weeks (IQR:11.6, 13.9). Genetic outcomes were confirmed in 17,851 (88.4%): 13,043 (73.1%) low-risk and 4,808 (26.9%) high-risk for aneuploidy. Overall, 133 trisomies were diagnosed (100 T21; 18 T18; 15 T13). cfDNA screen positive rate was lower in low- vs. high-risk (0.27% vs. 2.2%, p<0.0001). Sensitivity and specificity were similar between groups. The positive predictive value (PPV) for the low and high-risk groups was 85.7% vs. 97.5%, p=0.058 for T21; 50.0% vs. 81.3%, p=0.283 for T18; and 62.5% vs. 83.3, p=0.58 for T13, respectively. Overall, 602 (3.4%) patients had no-call result after the first draw and 287 (1.61%) after including cases with a second draw. Trisomy rate was higher in the 287 with no-call results than patients with a result on a first draw (2.8% vs. 0.7%, p=0.001). The updated algorithm showed similar sensitivity and specificity to the study algorhitm with a lower no-call rate. CONCLUSIONS: In women at low-risk for aneuploidy, SNP-based cfDNA has high sensitivity and specificity, PPV of 85.7% for T21 and 74.3% for the three common trisomies. Patients who receive a no-call result are at increased risk of aneuploidy and require additional investigation
Direct and Inverse Computation of Jacobi Matrices of Infinite Homogeneous Affine I.F.S
We introduce a new set of algorithms to compute Jacobi matrices associated
with measures generated by infinite systems of iterated functions. We
demonstrate their relevance in the study of theoretical problems, such as the
continuity of these measures and the logarithmic capacity of their support.
Since our approach is based on a reversible transformation between pairs of
Jacobi matrices, we also discuss its application to an inverse / approximation
problem. Numerical experiments show that the proposed algorithms are stable and
can reliably compute Jacobi matrices of large order.Comment: 20 pages 6 figure
ΠΠ°Π·Π½Π°ΡΠ΅Π½ΠΈΠ΅ / ΠΎΡΠΌΠ΅Π½Π° ΠΈΠ½Π³Π°Π»ΡΡΠΈΠΎΠ½Π½ΡΡ Π³Π»ΡΠΊΠΎΠΊΠΎΡΡΠΈΠΊΠΎΡΡΠ΅ΡΠΎΠΈΠ΄ΠΎΠ² Ρ Π±ΠΎΠ»ΡΠ½ΡΡ Ρ ΡΠΎΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΎΠ±ΡΡΡΡΠΊΡΠΈΠ²Π½ΠΎΠΉ Π±ΠΎΠ»Π΅Π·Π½ΡΡ Π»Π΅Π³ΠΊΠΈΡ ΠΊΠ°ΠΊ ΡΠ΅ΡΠ°ΠΏΠ΅Π²ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ ΠΊΠΎΠ½ΡΠΈΠ½ΡΡΠΌ Π² ΡΠ΅Π°Π»ΡΠ½ΠΎΠΉ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΏΡΠ°ΠΊΡΠΈΠΊΠ΅
Chronic obstructive pulmonary disease (COPD) is a progressing disease. Each exacerbation impairs the patientβs prognosis and increases burden for the healthcare system. The most common maintenance treatment options for COPD include long-acting bronchodilators β Ξ²2-agonists (LABA) and long-acting antimuscarinic agents (LAMA), and inhaled glucocorticosteroids (ICS), in fixed/opened double and triple combinations. Triple therapy in subjects with exacerbation history is the most effective way to prevent negative outcomes of the disease. It can reduce the frequency of exacerbations, slow down the disease progression, improve quality of life, and reduce mortality in the long run. On the other hand, the response to triple therapy may change over the time depending on airways inflammation level, infection activity, and exacerbation frequency. Current COPD guidelines propose different indications for therapy escalation and de-escalation (ICS addition/withdrawal) for more personalized and safe treatment. At the same time, many practical issues of this process are still unclear, e.g. how often treatment regimens should be reviewed and what escalation/de-escalation criteria should be prioritized. The authors strongly believe that COPD therapy should adapt a holistic treatment approach (continuum) with quick responses to any changes in the patientβs condition.The aim of our work was to create an algorithm for ICS administration/ withdrawal for COPD patients on long-acting dual bronchodilators maintenance therapy and to establish a therapeutic continuum that takes into account exacerbation history, symptoms severity, blood eosinophilia level, and concomitant asthma.Conclusion. This instrument can be a useful and convenient tool for long-term patient management when access to specialized medical care might be restricted. It takes into account the main current recommendations for COPD management and is easy to apply in real clinical practice.Π₯ΡΠΎΠ½ΠΈΡΠ΅ΡΠΊΠ°Ρ ΠΎΠ±ΡΡΡΡΠΊΡΠΈΠ²Π½Π°Ρ Π±ΠΎΠ»Π΅Π·Π½Ρ Π»Π΅Π³ΠΊΠΈΡ
(Π₯ΠΠΠ) ΡΠ²Π»ΡΠ΅ΡΡΡ ΠΏΡΠΎΠ³ΡΠ΅ΡΡΠΈΡΡΡΡΠΈΠΌ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠ΅ΠΌ. ΠΡΠΈ ΠΊΠ°ΠΆΠ΄ΠΎΠΌ ΠΎΠ±ΠΎΡΡΡΠ΅Π½ΠΈΠΈ ΡΡ
ΡΠ΄ΡΠ°Π΅ΡΡΡ ΠΏΡΠΎΠ³Π½ΠΎΠ·, ΡΠ½ΠΈΠΆΠ°Π΅ΡΡΡ ΠΊΠ°ΡΠ΅ΡΡΠ²ΠΎ ΠΆΠΈΠ·Π½ΠΈ (ΠΠ) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ°, ΡΠ²Π΅Π»ΠΈΡΠΈΠ²Π°Π΅ΡΡΡ Π½Π°Π³ΡΡΠ·ΠΊΠ° Π½Π° ΡΠΈΡΡΠ΅ΠΌΡ Π·Π΄ΡΠ°Π²ΠΎΠΎΡ
ΡΠ°Π½Π΅Π½ΠΈΡ. ΠΠ°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΠ°ΡΡΠΎ Π΄Π»Ρ ΠΏΠΎΠ΄Π΄Π΅ΡΠΆΠΈΠ²Π°ΡΡΠ΅ΠΉ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ Π₯ΠΠΠ ΠΈΡΠΏΠΎΠ»ΡΠ·ΡΡΡΡΡ Π΄Π»ΠΈΡΠ΅Π»ΡΠ½ΠΎ Π΄Π΅ΠΉΡΡΠ²ΡΡΡΠΈΠ΅ (ΠΠ) Π±ΡΠΎΠ½Ρ
ΠΎΠ»ΠΈΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΏΡΠ΅ΠΏΠ°ΡΠ°ΡΡ β Ξ²2-Π°Π³ΠΎΠ½ΠΈΡΡΡ Π°Π΄ΡΠ΅Π½ΠΎΡΠ΅ΡΠ΅ΠΏΡΠΎΡΠΎΠ² (ΠΠΠΠ) ΠΈ ΠΠ Π°Π½ΡΠΈΡ
ΠΎΠ»ΠΈΠ½Π΅ΡΠ³ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΏΡΠ΅ΠΏΠ°ΡΠ°ΡΡ, Π° ΡΠ°ΠΊΠΆΠ΅ ΠΈΠ½Π³Π°Π»ΡΡΠΈΠΎΠ½Π½ΡΠ΅ Π³Π»ΡΠΊΠΎΠΊΠΎΡΡΠΈΠΊΠΎΡΡΠ΅ΡΠΎΠΈΠ΄Ρ (ΠΈΠΠΠ‘) Π² Π²ΠΈΠ΄Π΅ Π΄Π²ΠΎΠΉΠ½ΡΡ
ΠΈ ΡΡΠΎΠΉΠ½ΡΡ
ΠΊΠΎΠΌΠ±ΠΈΠ½Π°ΡΠΈΠΉ. Π’ΡΠΎΠΉΠ½Π°Ρ ΡΠ΅ΡΠ°ΠΏΠΈΡ Ρ Π»ΠΈΡ Ρ Π°Π½Π°ΠΌΠ½Π΅Π·ΠΎΠΌ ΠΎΠ±ΠΎΡΡΡΠ΅Π½ΠΈΠΉ ΡΠ²Π»ΡΠ΅ΡΡΡ Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΡΠΌ ΠΌΠ΅ΡΠΎΠ΄ΠΎΠΌ ΠΏΡΠ΅Π΄ΠΎΡΠ²ΡΠ°ΡΠ΅Π½ΠΈΡ Π½Π΅Π±Π»Π°Π³ΠΎΠΏΡΠΈΡΡΠ½ΡΡ
ΠΈΡΡ
ΠΎΠ΄ΠΎΠ². ΠΡΠΈ ΡΡΠΎΠΌ ΡΠ½ΠΈΠΆΠ°Π΅ΡΡΡ ΡΠΈΡΠ»ΠΎ ΠΎΠ±ΠΎΡΡΡΠ΅Π½ΠΈΠΉ, ΠΏΠΎΠ²ΡΡΠ°Π΅ΡΡΡ ΠΠ, Π·Π°ΠΌΠ΅Π΄Π»ΡΠ΅ΡΡΡ ΠΏΡΠΎΠ³ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ ΠΈ ΡΠ½ΠΈΠΆΠ°Π΅ΡΡΡ ΡΠΈΡΠΊ Π»Π΅ΡΠ°Π»ΡΠ½ΡΡ
ΠΈΡΡ
ΠΎΠ΄ΠΎΠ². Π‘ Π΄ΡΡΠ³ΠΎΠΉ ΡΡΠΎΡΠΎΠ½Ρ, ΠΎΡΠ²Π΅Ρ Π½Π° ΡΡΠΎΠΉΠ½ΡΡ ΡΠ΅ΡΠ°ΠΏΠΈΡ ΠΌΠΎΠΆΠ΅Ρ ΠΈΠ·ΠΌΠ΅Π½ΡΡΡΡΡ Ρ ΡΠ΅ΡΠ΅Π½ΠΈΠ΅ΠΌ Π²ΡΠ΅ΠΌΠ΅Π½ΠΈ Π² Π·Π°Π²ΠΈΡΠΈΠΌΠΎΡΡΠΈ ΠΎΡ Π²ΡΡΠ°ΠΆΠ΅Π½Π½ΠΎΡΡΠΈ Π²ΠΎΡΠΏΠ°Π»Π΅Π½ΠΈΡ Π² Π΄ΡΡ
Π°ΡΠ΅Π»ΡΠ½ΡΡ
ΠΏΡΡΡΡ
, Π°ΠΊΡΠΈΠ²Π½ΠΎΡΡΠΈ ΠΈΠ½ΡΠ΅ΠΊΡΠΈΠΈ ΠΈ ΡΠΈΡΠ»Π° ΠΎΠ±ΠΎΡΡΡΠ΅Π½ΠΈΠΉ. ΠΠ»Ρ ΡΠΎΠ³ΠΎ ΡΡΠΎΠ±Ρ ΡΠ΄Π΅Π»Π°ΡΡ ΡΠ΅ΡΠ°ΠΏΠΈΡ ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ½ΠΎΠ³ΠΎ Π±ΠΎΠ»ΡΠ½ΠΎΠ³ΠΎ ΠΏΠ΅ΡΡΠΎΠ½Π°Π»ΠΈΠ·ΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠΉ ΠΈ Π±ΠΎΠ»Π΅Π΅ Π±Π΅Π·ΠΎΠΏΠ°ΡΠ½ΠΎΠΉ, ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΠΌΠΈ ΡΡΠΊΠΎΠ²ΠΎΠ΄ΡΡΠ²Π°ΠΌΠΈ ΠΏΠΎ Π»Π΅ΡΠ΅Π½ΠΈΡ Π₯ΠΠΠ ΠΏΡΠ΅Π΄Π»Π°Π³Π°ΡΡΡΡ ΡΠ°Π·Π»ΠΈΡΠ½ΡΠ΅ ΠΏΠΎΠΊΠ°Π·Π°Π½ΠΈΡ Π΄Π»Ρ ΡΡΠΊΠ°Π»Π°ΡΠΈΠΈ (Π΄ΠΎΠ±Π°Π²Π»Π΅Π½ΠΈΠ΅ ΠΈΠΠΠ‘) ΠΈ Π΄Π΅ΡΡΠΊΠ°Π»Π°ΡΠΈΠΈ (ΠΎΡΠΌΠ΅Π½Π° ΠΈΠΠΠ‘) ΡΠ΅ΡΠ°ΠΏΠΈΠΈ. ΠΡΠΈ ΡΡΠΎΠΌ ΠΌΠ½ΠΎΠ³ΠΈΠ΅ ΠΏΡΠ°ΠΊΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ Π²ΠΎΠΏΡΠΎΡΡ, Π² ΡΠ°ΡΡΠ½ΠΎΡΡΠΈ, ΠΊΠ°ΠΊ ΡΠ°ΡΡΠΎ ΡΠ»Π΅Π΄ΡΠ΅Ρ ΠΏΠ΅ΡΠ΅ΡΠΌΠ°ΡΡΠΈΠ²Π°ΡΡ ΡΡ
Π΅ΠΌΡ Π»Π΅ΡΠ΅Π½ΠΈΡ ΠΈ Π½Π° ΠΊΠ°ΠΊΠΈΠ΅ ΠΏΠΎΠΊΠ°Π·Π°Π½ΠΈΡ Π΄Π»Ρ ΡΡΠΊΠ°Π»Π°ΡΠΈΠΈ / Π΄Π΅ΡΡΠΊΠ°Π»Π°ΡΠΈΠΈ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ ΡΠ»Π΅Π΄ΡΠ΅Ρ ΠΎΠ±ΡΠ°ΡΠ°ΡΡ Π²Π½ΠΈΠΌΠ°Π½ΠΈΠ΅ Π² ΠΏΠ΅ΡΠ²ΡΡ ΠΎΡΠ΅ΡΠ΅Π΄Ρ, β ΠΎΡΡΠ°ΡΡΡΡ Π½Π΅Π΄ΠΎΡΡΠ°ΡΠΎΡΠ½ΠΎ ΡΠ°Π·ΡΠ°Π±ΠΎΡΠ°Π½Π½ΡΠΌΠΈ. Π‘ΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½Π°Ρ ΡΠ΅ΡΠ°ΠΏΠΈΡ Π₯ΠΠΠ Π΄ΠΎΠ»ΠΆΠ½Π° ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»ΡΡΡ ΡΠΎΠ±ΠΎΠΉ ΡΠ΅Π»ΠΎΡΡΠ½ΡΡ ΠΏΠΎΡΠ»Π΅Π΄ΠΎΠ²Π°ΡΠ΅Π»ΡΠ½ΠΎΡΡΡ Π΄Π΅ΠΉΡΡΠ²ΠΈΠΉ Π²ΡΠ°ΡΠ° (ΠΊΠΎΠ½ΡΠΈΠ½ΡΡΠΌ), ΠΊΠΎΡΠΎΡΠ°Ρ ΡΠ΅Π°Π³ΠΈΡΡΠ΅Ρ Π½Π° ΠΈΠ·ΠΌΠ΅Π½Π΅Π½ΠΈΡ Π² ΡΠΎΡΡΠΎΡΠ½ΠΈΠΈ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° ΡΠ²ΠΎΠ΅Π²ΡΠ΅ΠΌΠ΅Π½Π½ΠΎΠΉ ΡΡΠΊΠ°Π»Π°ΡΠΈΠ΅ΠΉ ΠΈ Π΄Π΅ΡΡΠΊΠ°Π»Π°ΡΠΈΠ΅ΠΉ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ (Π² ΠΏΠ΅ΡΠ²ΡΡ ΠΎΡΠ΅ΡΠ΅Π΄Ρ, ΡΠ΅ΡΡ ΠΈΠ΄Π΅Ρ ΠΎ Π΄ΠΎΠ±Π°Π²Π»Π΅Π½ΠΈΠΈ ΠΈ ΠΎΡΠΌΠ΅Π½Π΅ ΠΠΠ‘).Π¦Π΅Π»ΡΡ ΡΠ°Π±ΠΎΡΡ ΡΠ²ΠΈΠ»ΠΎΡΡ ΡΠΎΠ·Π΄Π°Π½ΠΈΠ΅ Π°Π»Π³ΠΎΡΠΈΡΠΌΠ° Π½Π°Π·Π½Π°ΡΠ΅Π½ΠΈΡ / ΠΎΡΠΌΠ΅Π½Ρ ΠΈΠΠΠ‘ Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π₯ΠΠΠ, ΠΏΠΎΠ»ΡΡΠ°ΡΡΠΈΡ
ΠΏΠΎΠ΄Π΄Π΅ΡΠΆΠΈΠ²Π°ΡΡΡΡ ΡΠ΅ΡΠ°ΠΏΠΈΡ ΠΠ Π΄Π²ΠΎΠΉΠ½ΡΠΌΠΈ Π±ΡΠΎΠ½Ρ
ΠΎΠ΄ΠΈΠ»Π°ΡΠ°ΡΠΎΡΠ°ΠΌΠΈ, Π° ΡΠ°ΠΊΠΆΠ΅ ΡΠ°Π·ΡΠ°Π±ΠΎΡΠΊΠ° ΡΠ΅ΡΠ°ΠΏΠ΅Π²ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΊΠΎΠ½ΡΠΈΠ½ΡΡΠΌΠ°, ΠΏΡΠΈ ΠΊΠΎΡΠΎΡΠΎΠΌ ΡΡΠΈΡΡΠ²Π°ΡΡΡΡ Π°Π½Π°ΠΌΠ½Π΅Π· ΠΎΠ±ΠΎΡΡΡΠ΅Π½ΠΈΠΉ, Π²ΡΡΠ°ΠΆΠ΅Π½Π½ΠΎΡΡΡ ΡΠΈΠΌΠΏΡΠΎΠΌΠΎΠ², ΡΡΠΎΠ²Π΅Π½Ρ ΡΠΎΠ·ΠΈΠ½ΠΎΡΠΈΠ»ΠΈΠΈ ΠΏΠ΅ΡΠΈΡΠ΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΊΡΠΎΠ²ΠΈ, Π° ΡΠ°ΠΊΠΆΠ΅ Π½Π°Π»ΠΈΡΠΈΠ΅ ΡΠΎΠΏΡΡΡΡΠ²ΡΡΡΠ΅ΠΉ Π±ΡΠΎΠ½Ρ
ΠΈΠ°Π»ΡΠ½ΠΎΠΉ Π°ΡΡΠΌΡ.ΠΠ°ΠΊΠ»ΡΡΠ΅Π½ΠΈΠ΅. ΠΡΠ° ΡΡ
Π΅ΠΌΠ° ΠΌΠΎΠΆΠ΅Ρ Π±ΡΡΡ ΠΏΠΎΠ»Π΅Π·Π½Π° ΠΊΠ°ΠΊ ΠΈΠ½ΡΡΡΡΠΌΠ΅Π½Ρ Π΄Π»ΠΈΡΠ΅Π»ΡΠ½ΠΎΠ³ΠΎ Π²Π΅Π΄Π΅Π½ΠΈΡ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Π² ΡΡΠ»ΠΎΠ²ΠΈΡΡ
ΠΎΠ³ΡΠ°Π½ΠΈΡΠ΅Π½ΠΈΡ Π΄ΠΎΡΡΡΠΏΠ½ΠΎΡΡΠΈ ΡΠΏΠ΅ΡΠΈΠ°Π»ΠΈΠ·ΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠΉ ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠΎΠΉ ΠΏΠΎΠΌΠΎΡΠΈ. ΠΡΠΈ ΠΏΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΠΈ ΡΠΊΠ°Π·Π°Π½Π½ΠΎΠΉ ΡΡ
Π΅ΠΌΡ, Π»Π΅Π³ΠΊΠΎ ΠΏΡΠΈΠΌΠ΅Π½ΠΈΠΌΠΎΠΉ Π² ΡΠ΅Π°Π»ΡΠ½ΠΎΠΉ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΏΡΠ°ΠΊΡΠΈΠΊΠ΅, ΡΡΠΈΡΡΠ²Π°ΡΡΡΡ ΠΎΡΠ½ΠΎΠ²Π½ΡΠ΅ ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΠ΅ ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΈ ΠΏΠΎ Π²Π΅Π΄Π΅Π½ΠΈΡ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π₯ΠΠΠ
ΠΡΠΎΠ½Ρ ΠΈΠ°Π»ΡΠ½Π°Ρ Π°ΡΡΠΌΠ°: ΡΠ΅Π΄Π΅ΡΠ°Π»ΡΠ½ΡΠ΅ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΈ ΠΏΠΎ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅ ΠΈ Π»Π΅ΡΠ΅Π½ΠΈΡ
Bronchial asthma is a heterogeneous disease that requires identification of its phenotype and a personalized approach to therapy. At the same time, despite a wide range of therapeutic options, many patients with asthma cannot achieve control over the disease.Methodology. The target audience of these clinical recommendations are general practitioners, therapists, pediatricians, allergologists-immunologists, pulmonologists, and functional diagnostics doctors. Each thesis-recommendation about diagnostic and therapeutic procedures has been scored according to the scales of classes of recommendations from 1 to 5 and A, B, C scale of the levels of evidence. The clinical recommendations also contain comments and explanations to the theses, algorithms for the diagnosis and treatment of bronchial asthma, and reference materials.Conclusion. The presented clinical guidelines cover current information about the etiology and pathogenesis, classification, clinical manifestations, diagnosis, treatment, and prevention of bronchial asthma. These guidelines were approved by the Scientific and Practical Council of the Ministry of Health of the Russian Federation in 2021.Β ΠΡΠΎΠ½Ρ
ΠΈΠ°Π»ΡΠ½Π°Ρ Π°ΡΡΠΌΠ° (ΠΠ) ΡΠ²Π»ΡΠ΅ΡΡΡ Π³Π΅ΡΠ΅ΡΠΎΠ³Π΅Π½Π½ΡΠΌ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠ΅ΠΌ, ΠΏΡΠΈ ΠΊΠΎΡΠΎΡΠΎΠΌ ΡΡΠ΅Π±ΡΠ΅ΡΡΡ Π²ΡΠ΄Π΅Π»Π΅Π½ΠΈΠ΅ ΡΠ°Π·Π»ΠΈΡΠ½ΡΡ
ΡΠ΅Π½ΠΎΡΠΈΠΏΠΎΠ² ΠΈ ΠΏΠ΅ΡΡΠΎΠ½ΠΈΡΠΈΡΠΈΡΠΎΠ²Π°Π½Π½ΡΠΉ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄ ΠΊ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ. ΠΡΠΈ ΡΡΠΎΠΌ Π½Π΅ΡΠΌΠΎΡΡΡ Π½Π° ΡΠΈΡΠΎΠΊΠΈΠΉ Π²ΡΠ±ΠΎΡ ΡΠ΅ΡΠ°ΠΏΠ΅Π²ΡΠΈΡΠ΅ΡΠΊΠΈΡ
Π²ΠΎΠ·ΠΌΠΎΠΆΠ½ΠΎΡΡΠ΅ΠΉ, Ρ ΠΌΠ½ΠΎΠ³ΠΈΡ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ ΠΠ Π½Π΅ ΡΠ΄Π°Π΅ΡΡΡ Π΄ΠΎΡΡΠΈΡΡ ΠΊΠΎΠ½ΡΡΠΎΠ»Ρ Π½Π°Π΄ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠ΅ΠΌ.ΠΠ΅ΡΠΎΠ΄Ρ. Π¦Π΅Π»Π΅Π²ΠΎΠΉ Π°ΡΠ΄ΠΈΡΠΎΡΠΈΠ΅ΠΉ Π΄Π°Π½Π½ΡΡ
ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΉ ΡΠ²Π»ΡΡΡΡΡ Π²ΡΠ°ΡΠΈ ΠΎΠ±ΡΠ΅ΠΉ ΠΏΡΠ°ΠΊΡΠΈΠΊΠΈ, ΡΠ΅ΡΠ°ΠΏΠ΅Π²ΡΡ, ΠΏΠ΅Π΄ΠΈΠ°ΡΡΡ, Π°Π»Π»Π΅ΡΠ³ΠΎΠ»ΠΎΠ³ΠΈ-ΠΈΠΌΠΌΡΠ½ΠΎΠ»ΠΎΠ³ΠΈ, ΠΏΡΠ»ΡΠΌΠΎΠ½ΠΎΠ»ΠΎΠ³ΠΈ ΠΈ Π²ΡΠ°ΡΠΈ ΡΡΠ½ΠΊΡΠΈΠΎΠ½Π°Π»ΡΠ½ΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ. ΠΠ°ΠΆΠ΄ΡΠΉ ΡΠ΅Π·ΠΈΡ-ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΡ ΠΏΠΎ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΈΡ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΈ Π»Π΅ΡΠ΅Π±Π½ΡΡ
ΠΌΠ΅ΡΠΎΠΏΡΠΈΡΡΠΈΠΉ ΠΎΡΠ΅Π½ΠΈΠ²Π°Π΅ΡΡΡ ΠΏΠΎ ΡΠΊΠ°Π»Π°ΠΌ ΡΡΠΎΠ²Π½Π΅ΠΉ Π΄ΠΎΡΡΠΎΠ²Π΅ΡΠ½ΠΎΡΡΠΈ Π΄ΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΡΡΡΠ² ΠΎΡ 1 Π΄ΠΎ 5 ΠΈ ΡΠΊΠ°Π»Π΅ ΠΎΡΠ΅Π½ΠΊΠΈ ΡΡΠΎΠ²Π½Π΅ΠΉ ΡΠ±Π΅Π΄ΠΈΡΠ΅Π»ΡΠ½ΠΎΡΡΠΈ ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΉ ΠΏΠΎ ΠΊΠ°ΡΠ΅Π³ΠΎΡΠΈΡΠΌ Π, Π, Π‘. ΠΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΈ ΡΠΎΠ΄Π΅ΡΠΆΠ°Ρ ΡΠ°ΠΊΠΆΠ΅ ΠΊΠΎΠΌΠΌΠ΅Π½ΡΠ°ΡΠΈΠΈ ΠΈ ΡΠ°Π·ΡΡΡΠ½Π΅Π½ΠΈΡ ΠΊ ΡΠΊΠ°Π·Π°Π½Π½ΡΠΌ ΡΠ΅Π·ΠΈΡΠ°ΠΌ-ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΡΠΌ, Π°Π»Π³ΠΎΡΠΈΡΠΌΡ ΠΏΠΎ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅ ΠΈ Π»Π΅ΡΠ΅Π½ΠΈΡ ΠΠ, ΡΠΏΡΠ°Π²ΠΎΡΠ½ΡΠ΅ ΠΌΠ°ΡΠ΅ΡΠΈΠ°Π»Ρ.ΠΠ°ΠΊΠ»ΡΡΠ΅Π½ΠΈΠ΅. ΠΠΎ Π΄Π°Π½Π½ΡΠΌ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Π½ΡΡ
ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΉ ΠΎΡΠ²Π΅ΡΠ°ΡΡΡΡ ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΠ΅ ΡΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΎΠ± ΡΡΠΈΠΎΠ»ΠΎΠ³ΠΈΠΈ ΠΈ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π΅, ΠΊΠ»Π°ΡΡΠΈΡΠΈΠΊΠ°ΡΠΈΠΈ, ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΡΡ
, Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅, Π»Π΅ΡΠ΅Π½ΠΈΠΈ ΠΈ ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠ΅ ΠΠ. ΠΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΡΠ΅ΠΊΠΎΠΌΠ΅Π½Π΄Π°ΡΠΈΠΈ ΠΎΠ΄ΠΎΠ±ΡΠ΅Π½Ρ ΠΠ°ΡΡΠ½ΠΎ-ΠΏΡΠ°ΠΊΡΠΈΡΠ΅ΡΠΊΠΈΠΌ Π‘ΠΎΠ²Π΅ΡΠΎΠΌ ΠΠΈΠ½ΠΈΡΡΠ΅ΡΡΡΠ²Π° Π·Π΄ΡΠ°Π²ΠΎΠΎΡ
ΡΠ°Π½Π΅Π½ΠΈΡ Π ΠΎΡΡΠΈΠΉΡΠΊΠΎΠΉ Π€Π΅Π΄Π΅ΡΠ°ΡΠΈΠΈ (2021).
Clinical features of post-COVID-19 period. Results of the international register βDynamic analysis of comorbidities in SARS-CoV-2 survivors (AKTIV SARS-CoV-2)β. Data from 6-month follow-up
Aim. To study the clinical course specifics of coronavirus disease 2019 (COVID-19) and comorbid conditions in COVID-19 survivors 3, 6, 12 months after recovery in the Eurasian region according to the AKTIV register. Material and methods.The AKTIV register was created at the initiative of the Eurasian Association of Therapists. The AKTIV register is divided into 2 parts: AKTIV 1 and AKTIV 2. The AKTIV 1 register currently includes 6300 patients, while in AKTIV 2 β 2770. Patients diagnosed with COVID-19 receiving in- and outpatient treatment have been anonymously included on the registry. The following 7 countries participated in the register: Russian Federation, Republic of Armenia, Republic of Belarus, Republic of Kazakhstan, Kyrgyz Republic, Republic of Moldova, Republic of Uzbekistan. This closed multicenter register with two nonoverlapping branches (in- and outpatient branch) provides 6 visits: 3 in-person visits during the acute period and 3 telephone calls after 3, 6, 12 months. Subject recruitment lasted from June 29, 2020 to October 29, 2020. Register will end on October 29, 2022. A total of 9 fragmentary analyzes of the registry data are planned. This fragment of the study presents the results of the post-hospitalization period in COVID-19 survivors after 3 and 6 months. Results. According to the AKTIV register, patients after COVID-19 are characterized by long-term persistent symptoms and frequent seeking for unscheduled medical care, including rehospitalizations. The most common causes of unplanned medical care are uncontrolled hypertension (HTN) and chronic coronary artery disease (CAD) and/or decompensated type 2 diabetes (T2D). During 3- and 6-month follow-up after hospitalization, 5,6% and 6,4% of patients were diagnosed with other diseases, which were more often presented by HTN, T2D, and CAD. The mortality rate of patients in the post-hospitalization period was 1,9% in the first 3 months and 0,2% for 4-6 months. The highest mortality rate was observed in the first 3 months in the group of patients with class II-IV heart failure, as well as in patients with cardiovascular diseases and cancer. In the pattern of death causes in the post-hospitalization period, following cardiovascular causes prevailed (31,8%): acute coronary syndrome, stroke, acute heart failure. Conclusion. According to the AKTIV register, the health status of patients after COVID-19 in a serious challenge for healthcare system, which requires planning adequate health system capacity to provide care to patients with COVID-19 in both acute and post-hospitalization period
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