The aim is to demonstrate the successful use of veno-arterial extracorporeal membrane oxygenation (VA-ECMO) in a patient developing acute myocardial infarction (AMI) and cardiogenic shock due to spontaneous coronary artery dissection in the third trimester of pregnancy. Patient and investigative techniques. We analyzed laboratory and hemodynamic parameters, mechanical ventilation settings and ECMO circuit parameters in a 32-week pregnant woman with acute myocardial infarction and cardiogenic shock caused by spontaneous coronary artery dissection. We reviewed all stages of patient’s management from hospital admission, including initiation of ECMO, performing of cesarean section under extracorporeal support, and patient's transportation to tertiary center for heart transplantation. Results. The use of VA-ECMO in a patient with AMI at 32 weeks of gestation provided biventricular circulatory support, which allowed to stabilize severe cardiogenic shock and safely place coronary stents, providing sufficient placental blood flow to preserve the life of the fetus. A cesarean section (CS) was performed under VA-ECMO support resulting in delivery of a live baby-girl weighing 1.8 kg with an Apgar score of 5/6. The mother was transported after CS to the V. I. Shumakov National Medical Research Center for Transplantation and Artificial Organs, Ministry of Health of the Russian Federation, where emergency orthotopic heart transplantation (OHT) was performed. Conclusion. We present a case report of spontaneous coronary artery dissection leading to AMI and cardiogenic shock and requiring life-saving circulatory support with VA-ECMO. The case demonstrates the urgent need of both treatment arms including established protocol of coronary angiography with percutaneous coronary intervention, and timely employed individual approach, that include VA-ECMO, intra-aortic balloon pump, and left ventricular decompression. The use of high-tech methods and a professionally employed multidisciplinary approach saved the lives of both the mother and the child.
BACKGROUND: Pseudarthrosis of long bones following fractures represents a significant challenge in modern traumatology and orthopedics due to pronounced functional impairment of the affected limb and prolonged treatment duration. Novel approaches in regenerative medicine and orthobiologics provide promising opportunities to correct osteogenic insufficiency in the nonunion site, particularly after repeated surgical interventions. AIM: The work aimed to evaluate the prospects for clinical application of bone grafts containing genes encoding vascular endothelial growth factor (VEGF) and bone morphogenetic protein-2 (BMP-2) delivered via a plasmid construct for the treatment of patients with pseudarthrosis. METHODS: The plasmid construct pBudKan-coVEGF165A-coBMP2 was generated using standard molecular genetic techniques. Gene-activated demineralized bone allografts were produced by combining demineralized bone allografts with the plasmid construct. A single-center, prospective, uncontrolled cohort study included evaluation of experimental surgical treatment in 47 patients with long-bone pseudarthrosis who underwent bone grafting with the prepared grafts using either plate osteosynthesis or an external fixation device. Radiographic methods and the Non-Union Scoring System (NUSS) score were used to determine treatment strategy. Postoperative outcomes were evaluated by clinical examination, radiographic methods, and the Regenerating Bone defects using New biomedical Engineering (REBORNE) score. RESULTS: Treatment outcomes were monitored for 12 months in 46 patients. Positive treatment results were achieved in 95.7% of cases: 41 patients (89.1%) demonstrated complete bone union (REBORNE score = 4) after 6 months, and 3 patients (6.5%) after 12 months. CONCLUSION: The use of gene-activated demineralized bone allografts containing a plasmid construct simultaneously encoding VEGF and BMP-2 for bone grafting in patients with long-standing ununited fractures and prior unsuccessful treatment attempts resulted in a high rate of successful bone union (95.7%).
Duchenne muscular dystrophy is the most severe form of hereditary myopathies in boys, caused by mutations in the DMD gene, located on the X chromosome at the Xp21.2–p21.1 locus and encoding the dystrophin protein. The most common mutations are deletions of one or more exons (about 70 % of cases), which disrupt the reading frame and lead to the synthesis of a shortened and non-functional dystrophin protein, which causes the breakdown of skeletal muscle fibers (rhabdomyolysis) and progressive muscle weakness. The disease clinically manifests at the age of 2–5 years and rapidly progresses to the loss of the ability to walk independently by 8–12 years and death in the second or third decade of life due to respiratory and cardiac failure. The authors present Russian experience in the use of a gene therapy drug for the treatment of Duchenne muscular dystrophy using the exon skipping method, exemplified by the only registered drug of this class in Russia for Duchenne muscular dystrophy therapy – viltolarsen (Viltepso®).
Background. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening disease characterized by intravascular hemolysis, thrombosis, and bone marrow failure. The introduction of anti-C5 therapy (eculizumab, ravulizumab) has significantly improved patient outcomes; however, suboptimal hematological response, breakthrough hemolysis, and inadequate disease monitoring persist in real-world clinical practice. Data on the real-world management of PNH patients in the Russian Federation are limited, justifying the need for the present study. Aim. To evaluate the clinical and demographic characteristics, the rate and quality of hematological response, the frequency of laboratory monitoring, and the disease course features in PNH patients receiving or not receiving complement C5 inhibitors (anti-C5 therapy) in real-world clinical practice in the Russian Federation. Materials and methods. A retrospective, non-interventional study (RADAR-PNH) was conducted and included 145 adult patients with a confirmed diagnosis of PNH. The primary analysis assessed hematological response and the frequency of key disease parameters monitoring during the 12 months following anti-C5 therapy initiation (n = 128). Results. An optimal hematological response to anti-C5 therapy was achieved in 75 (58.6 %) of patients, including a complete response in 31 (24.2 %) and a good response in 44 (34.4 %). A suboptimal response persisted in 53 (41.4 %) of patients, including a minor response in 21 (16.4 %). Only 32 (25 %) of patients on anti-C5 therapy underwent complete regular laboratory monitoring. During the entire observation period, 43 (33.9 %) patients required red blood cell transfusions. Breakthrough intravascular hemolysis was reported in 30 (23.4 %) of patients. Five (3.9 %) patients developed thrombosis while receiving C5 inhibitor therapy. Conclusion. The obtained data indicate a substantial proportion of patients with an incomplete hematological response, inadequate laboratory monitoring, and a persistent risk of breakthrough hemolysis and thrombosis even during targeted therapy. This study may provide a basis for systemic improvements in the diagnosis, follow-up, and treatment of PNH aimed at enhancing the quality of life and prognosis in this patient population.
The aim of this study. To compare different methods of adipose tissue assessment (body mass index (BMI), bioelectrical impedance analysis (BIA), ultrasound (US)) in patients with inflammatory bowel disease (IBD). Materials and methods. The study included 136 patients with IBD (62 with ulcerative colitis, 74 with Crohn's disease) and 30 control subjects. All participants underwent anthropometry (BMI, circumferences), handgrip strength measurement, BIA, and adipose tissue ultrasound according to a standardized protocol. Results. According to BMI, overweight and obesity were found in 28.7 % of IBD patients. BIA revealed excess fat mass in 31.9 % of patients; notably, 30.2 % of these individuals had a normal BMI. Ultrasound detected increased adipose tissue in 47.3 % of patients, allowing for differentiation of obesity types. Excess fat was found by ultrasound in 44 % of patients with normal BMI. A negative correlation was found between fat mass percentage and handgrip strength (r= –0.363; p<0.001). Conclusions. There is a need to include instrumental methods for assessing body composition in the examination algorithms for patients with IBD for timely correction of nutritional status and prevention of complications. The high prevalence of excess fat mass and its association with decreased muscle strength (dynapenia) justify the need for screening for sarcopenic obesity in patients with IBD.
