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1.
Zh Nevrol Psikhiatr Im S S Korsakova ; 123(10): 129-135, 2023.
Article in Russian | MEDLINE | ID: mdl-37966452

ABSTRACT

POLG-associated diseases are rare causes of pharmacoresistant epilepsy and status epilepticus, especially in adult patients. Phenotypic and genotypic variability in these conditions causes the complexity of their diagnosis. In the study, we report a case of a 33-year-old female patient who developed recurrent convulsive status epilepticus with focal clonic onset at the week 22/23 of pregnancy. Intensive anti-seizure therapy was administered, including the use of valproic acid, as well as the treatment of somatic complications. Given the acute onset, the semiology of seizures, the presence of psychopathological symptoms, autoimmune etiology of the disease was initially suspected. A month after the withdrawal of valproic acid, the patient began to show signs of toxic hepatitis, which eventually led to death. According to the results of whole-exome sequencing obtained later, the patient was a carrier of a pathogenic homozygous variant c.2243G>C (p.W748S) in the POLG gene. The presented case highlights the importance of molecular genetic testing and the risk associated with valproic acid hepatotoxicity in patients with cryptogenic epileptic status.


Subject(s)
Status Epilepticus , Valproic Acid , Adult , Female , Pregnancy , Humans , Valproic Acid/therapeutic use , Status Epilepticus/diagnosis , Status Epilepticus/drug therapy , Status Epilepticus/etiology , Genotype , Antisocial Personality Disorder , Homozygote , DNA Polymerase gamma/genetics
2.
Kardiologiia ; 59(9): 91-96, 2019 Sep 17.
Article in Russian | MEDLINE | ID: mdl-31540580

ABSTRACT

Fulminant myocarditis (FM) is a severe form of inflammatory myocardial injury rapidly developing as acute heart failure, cardiogenic shock, or life-threatening disturbances of cardiac rhythm. FM requires intensive treatment including drug therapy, mechanical circulatory support, and in some cases - heart transplantation. Echocardiography can be used as a screening method of diagnostics. Magnetic resonance imaging of the heart often cannot be performed because of hemodynamic instability of a patient, therefore endomyocardial biopsy with histological and immunohistochemical studies as well as molecular-genetic analysis of obtained samples is required for final diagnosis. Prognosis of the disease is determined by histological picture. In most cases, after cessation of acute stage of the inflammatory process, FM has a favorable long-term prognosis. In this article we present a clinical case of FM and review of current literature on diagnosis and treatment of this disease.


Subject(s)
Heart Transplantation , Myocarditis , Echocardiography , Heart , Humans , Shock, Cardiogenic
3.
Anesteziol Reanimatol ; 60(2): 4-7, 2015.
Article in Russian | MEDLINE | ID: mdl-26148353

ABSTRACT

PURPOSE: To determine the specifics of inhaled iloprost effect on pulmonary and systemic hemodynamics in patients with pulmonary hypertension (PH) associated with left ventricular systolic dysfunction. MATERIALS AND METHODS: 47 vasore- activity tests (VRT) with 20 micrograms inhaled iloprost (Ventavis, Bayer) were performed in 39 candidates on heart transplantation. All patients had heart failure III-IV NYHA and PH with pulmonary vascular resistance (PVR) more than 2.5 Wood units. Hemodynamic parameters were evaluated at baseline and 15 minutes after inhalation of iloprost. RESULTS: Iloprost significant decreased PAPmean: from 36.8 ± 8.5 mm Hg to 29.9 ± 9.4 mm Hg (p < 0.001). There was a significant decrease in PVR:from 4.5 1.6 Wood units to 3 ± 1 Wood units (p < 0.001). PVR dropped more than 20% in 34 cases (72.3%). Iloprost inhalation caused significant changes in systemic hemodynamic. There were decrease in sys- temic vascular resistance (SVR)from 1820 ± 527 dynes·sec·cm(-5) to 1423 ± 427 dynes·sec·cm(-5) (p < 0.001), increase in stroke volume index (SVI) from 26.1 ± 8.7 ml/m2 to 30.5 ± 9.5 ml/m2 (p < 0.001) and decrease in PCWP from 20.6 ± 5.9 mm Hg to 18.4 ± 6.6 mm Hg. (p = 0.016). We found significant negative correlation between systemic effects of iloprost and initial cardiac index (r = -0.63). CONCLUSIONS: Inhaled iloprost caused significant changes in systemic hemodynamic when was used in patients with severe LV systolic dysfunction. Favorable changes in the left ventricle preload and after- load naturally increased its performance and decreased PCWP.


Subject(s)
Hemodynamics/drug effects , Hypertension, Pulmonary/physiopathology , Iloprost/pharmacology , Vasodilator Agents/pharmacology , Ventricular Dysfunction, Left/physiopathology , Administration, Inhalation , Blood Pressure/drug effects , Female , Heart Transplantation , Humans , Hypertension, Pulmonary/complications , Hypertension, Pulmonary/drug therapy , Iloprost/administration & dosage , Male , Middle Aged , Pulmonary Circulation/drug effects , Pulmonary Wedge Pressure/drug effects , Severity of Illness Index , Treatment Outcome , Vascular Resistance/drug effects , Vasodilator Agents/administration & dosage , Ventricular Dysfunction, Left/complications , Ventricular Dysfunction, Left/drug therapy
4.
Anesteziol Reanimatol ; 60(6): 4-8, 2015.
Article in Russian | MEDLINE | ID: mdl-27025124

ABSTRACT

OBJECTIVE: To evaluate cardioprotective effects of remote ischemic preconditioning (RIPC) in cardiac surgery patients undergoing aortic valve replacement depending on the type of anesthesia and investigate the level of myocardial protein kinase C epsilon (PKC-ε) expression after RIPC. METHODS: In prospective randomized trial, forty eight patients aging from 50 to 75 years old (64 (56 ;69)) were included All patients were scheduled for aortic valve replacement using cardiopulmonary bypass (CPB). The patients were randomized into 4 groups: 1) RIPC applied during propofol anesthesia (RIPC prop, n = 12), 2) RIPC applied during sevoflurane anesthesia (RIPC sev, n = 12), 3) propofol anesthesia without RIPC (CONTROL prop, n = 12), 4) sevoflurane anesthesia without RIPC (CONTROL sev, n = 12). There was no difference found between the groups as to the baseline patient's data. RIPC protocol consisted of 3 simultaneous ischemic episodes of both lower limbs (5 minutes) with 5-min reperfusion intervals. PKC-ε expression in right atrial myocardium was assessed using Western blotting. Troponin I (cTnI) was estimated before anesthesia induction, after 30 min, 6, 12, 24, 48 hours after CPB completion. Also we calculated area under curve of cTnI (cTnI AUC). According to nonparametric distribution, data were assessed by the Mann-Whitney U-test and Newman-Keuls methodfor multigroup comparison. p < 0.05 was considered signifcant. The data are presented as median (25th; 75th percentile). RESULTS: Cardioprotective effects of RIPC were observed only after sevoflurane anesthesia: cTnI AUC was 134,8 (122,3; 232.4) ng/ml/48 h in CONTROL sev group and only 74.3 (64.7; 85.0) ng/ml/48 h in RIPC sev group (p < 0.05). RIPC applied during propofol anesthesia was not associated with cTnIAUC decrease: 93.8 (74.1; 246.8) ng/ml/48 h in CONTROL prop group and 122.5 (74.1; 185.0) ng/ml/48 h in RIPC prop group (p = 0.37). RIPC applied during sevoflurane anesthesia significantly increased PKC-ε expression: 1221 (921; 1438) U in CONTROL sev group vs 1882 (1564; 2131) U in RIPC sev group 6 (p < 0.05). RIPC implication during propofol anesthesia was not associated with any significant difference in PKC-ε expression in comparison with control group: 620 (436; 782) U in CONTROL prop group versus 788 (574;1063) U in RIPC prop group. In control groups, PKC-ε expression was significantly higher in sevoflurane anesthesia in comparison with propofol anesthesia. CONCLUSION: RIPC was only effective when it was applied during sevofiurane anesthesia. This was confirmed by PKC-ε expression increase and lower value of cTnI. There were no evidence of preconditioning and cardioprotection when MPG was initiated during propofol anesthesia.


Subject(s)
Anesthesia, General/methods , Aortic Valve/surgery , Heart Valve Prosthesis Implantation/methods , Ischemic Preconditioning/methods , Myocardial Reperfusion Injury/prevention & control , Protein Kinase C-epsilon/biosynthesis , Aged , Heart Valve Prosthesis Implantation/adverse effects , Humans , Immunoblotting , Methyl Ethers/administration & dosage , Middle Aged , Myocardial Reperfusion Injury/etiology , Myocardial Reperfusion Injury/metabolism , Myocytes, Cardiac/enzymology , Propofol/administration & dosage , Prospective Studies , Protein Kinase C-epsilon/metabolism , Sevoflurane , Troponin I/blood
5.
Anesteziol Reanimatol ; (3): 11-7, 2014.
Article in Russian | MEDLINE | ID: mdl-25306677

ABSTRACT

PURPOSE OF THE STUDY: To evaluate the effects of remote ischemic preconditioning (RIPC) on the perioperative period in elective aortic valve replacement (AVR) along different anaesthesia techniques. MATERIALS AND METHODS: 48 patients aged 50 to 75 years (64 (56;69)) which were scheduled for AVR due to aortic valve stenosis were included into the prospective, randomized study. Four groups were formed after randomization: 1) RIPC applied during propofol anesthesia (RIPCprop, n = 12), 2) RIPC applied during sevoflurane anesthesia (RIPCsevo, n = 12), 3) propofol anesthesia without RIPC (CONTROLprop, n = 12), 4) sevoflurane anesthesia without RIPC (CONTROLsevo, n = 12). Groups were similar in baseline data of patients. RIPC protocol: three five-minutes episodes of simultaneous both lower limbs ischemia with five-minutes reperfusion intervals. Troponin I (cTrI), interleukin-6 (IL-6), Interleukin-8 (IL-8) and C-reactive protein (CRP) levels were assessed prior to induction of anesthesia, at 30 min, 6, 12, 24 and 48 hours after the cessation of CPB. Significant differences were assessed by the nonparametric Mann-Whitney and Fisher's exact tests. Data are presented as: median (25th percentile, 75th percentile). RESULTS: . Significant differences in cTnI were found between RIPCsevo and CONTROLsevo groups at 6, 12 and 24 hours: 1.68 (1.28, 2.09) ng/ml vs 3.66 (2.07, 4.49) ng/ml, respectively at 6 hours (p = 0.04); 1.89 (1.59, 2.36) ng/ml vs 3.66 (2.91, 5.64) ng/ml, respectively at 12 hours (p = 0.001); 1.68 (1.55; 2.23) ng/ml vs 3.32 (2.10; 5.46) ng/ml, respectively at 24 hours (p = 0.01). There were no differences found in cTnI between RIPCprop and CONTROLprop groups during the whole study. There were no significant differences found in the levels of IL-6 and CRP between RIPC and control groups during the whole study Unexpectedly significant excess concentrations of IL-8 at 24 h were found when RIPC applied during sevoflurane anesthesia: 12.3 (10.6, 14.4) pg/mL in RIPCsevo group vs 6.2 (4.8, 11.1) pg/ml in CONTROLsevo group (p = 0.02). There was no paroxysmal atrial fibrillation (AF) after RIPC, and 5 cases were registered in the control groups (p = 0.02). No other significant differences in the clinical course of the postoperative period were found. CONCLUSIONS: Cardioprotective effect of RIPC and its effect on systemic inflammatory response should be assessed in the selected anesthesia groups. RIPC on the background of sevoflurane anesthesia reduces myocardial injury during AVR. RIPC does not reduce the severity of the systemic inflammatory response after AVR. RIPC reduces the risk of AF after AVR.


Subject(s)
Aortic Valve/surgery , Heart Valve Prosthesis Implantation/methods , Ischemic Preconditioning/methods , Myocardial Reperfusion Injury/prevention & control , Aged , Anesthesia, General , C-Reactive Protein/analysis , Cytokines/blood , Extracorporeal Circulation , Heart Valve Prosthesis Implantation/adverse effects , Humans , Middle Aged , Myocardial Reperfusion Injury/etiology , Myocardial Reperfusion Injury/pathology , Perioperative Period , Prospective Studies , Treatment Outcome , Troponin I/blood
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