Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg.

Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage.

Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.

Lopes−Maciel−Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations.

Mitral valve replacement and implantation of an extracardial mesh frame in patients with severe heart failure: results of a clinical study and a description of a clinical case 18 years after surgery.

Aim    Dilated cardiomyopathy (DCMP) is a major cause for severe heart failure. Development of a combination (drug and surgery) treatment of this disease is relevant. This prospective observational study was aimed at evaluating short- and long-term results of extracardiac mesh implantation in DCMP patients with heart failure resistant to the optimum drug therapy.

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.

Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-based non-invasive prenatal testing (NIPT) contain fully sequenced mitochondrial DNA (mtDNA). This mtDNA can be used for variant calling, ancestry analysis, population studies and other approaches that extend NIPT functionality.

Properties of Dicationic Disiloxane Ionic Liquids.

A number of dicationic ionic liquids with a disiloxane linker between imidazolium cations and bis(trifluoromethylsulfonyl)imide anion were synthesized and characterized. Melting points, viscosity, and volatility in a vacuum were measured; the thermal and hydrolytic stability of ionic liquids were also studied. The dependence of the properties on the structure of substituents in the cation of the ionic liquid was demonstrated.

[Antiproliferative and antioxidant activity of new dihydroquercetin derivatives].

Effect of nine new derivatives of dihydroquercetin (taxifolin) on the viability of cultivated normal and tumor cells, their antioxidant activity, and interconnection of the antioxidant activity with the chemical structure have been studied. Among these dihydroquercetin derivatives, the maximum antiproliferative activity on the model of rat fibroblast culture exhibited KN-2, KN-4, KN-7, and KN-8 compounds, while KN-7 and KN-8 compounds also showed maximum activity on the model of MCF-7 tumor cell culture (human breast cancer). The maximum general antioxidant activity was observed for the native dihydroquercetin and KN-8 compound.

[Nutritional support in surgically treated patients with dilated cardiomyopathy].

The efficiency of nutritional support was studied in patients operated on for dilated cardiomyopathy (DCM). In 36 patients with DCM and signs of circulatory decompensation, preoperative nutritional support with a MD mil Clinipit mixture was carried out in addition to medical treatment. The trophological, laboratory, and functional parameters of the operated patients were assessed on admission to hospital, 14 days after treatment and in the late postoperative period (up to 3 years).

[Changes in hemodynamics and volemic status during intraoperative blood exfusion in patients with chronic heart failure].

Forty-five patients with dilated cardiomyopathy, NYHA Functional Classes III-IV chronic heart failure with left ventricular ejection fraction 26.98+/-7%, who had undergone surgical left ventricular remodeling using an extracardiac conduit in combination with mitral or tricuspid valve correction and blood exfusion, were examined. Central hemodynamic monitoring was performed, by using a Swan-Ganz catheter in all the patients at surgery.

Transplantation of allogenic cells in the therapy of patients with dilated cardiomyopathy.

We carried out a pilot study on intracoronary transplantation of prenatal allogenic skeletal myoblasts and multipotent bone marrow stromal cells to patients with dilated cardiomyopathy. Intracoronary transplantation of allogenic cells is a feasible and safe procedure: there were no life-threatening rhythm and conduction disturbances, symptoms of hemodynamic instability, and thromboembolic complications. Positive clinical effect of cell transplantation persisted for 6 months and consisted in decreased content of brain natriuretic peptide and improved tolerance to physical exercises.

[Anesthesiological provision of surgical correction of dilated cardiomyopathy in patients with chronic heart failure].

When dilated cardiomyopathy (DCM) is surgically corrected, intraoperative intracardiac hemodynamic changes and additional ischemia of the disabling myocardium make special demands for anesthesia, prevention of cardiovascular insufficiency, and maintenance of circulatory oxygen-transporting function (COTF). For the development and evaluation of an anesthetic support protocol for patients with DCM, clinical parameters, hemodynamics and oxygen transport was comprehensively analyzed in 50 DCM patients aged 16-68 years in the intraoperative period of surgical correction of myocardial pathology. All the patients underwent implantation of an extracardiac mesh framework in combination, if required, with correction of mitral insufficiency under extracorporeal circulation (EC), drug-induced cold cardioplegia.

[Features of topographic anatomy of internal thoracic and right gastro-omental arteries as applied to coronary shunting].

The aim of the study was to specify topographoanatomic features of internal thoracic artery (ITA) and right gastroepiploic artery (RGEA) for optimization of surgical and endoscopic methods of their mobilization. The study was carried out on 50 cadavers (27 men, 23 women) aged from 29 to 82 years (mean age 59 years). The following topographic parameters of the conduits were evaluated: disposition of the artery ostium; presence and disposition of parietal branches; presence and disposition of visceral branches; type of a terminal part of the artery; interdisposition with surrounding anatomic structures.

[Heart transplantation conducted at the All-Union Research Center of Surgery (the first clinical experience)].

The authors analyse experience in the first eight operations for orthotopic transplantation of the heart. Six patients were discharged from the clinic with good immediate results. Comparison of their own data with summarized results gained in other countries allowed the authors to define some specific problems which are of practical interest for clinics embarking on the clinical realization of the problem of heart transplantation.

[Ampicillin concentration in the blood when administered by jet injection and needle-syringe methods].

The studies were carried out on 50 persons. Ampicillin was administered with the help of a jet injector B1-2 and needle syringe in doses of 250 or 500 and 500 mg respectively. When the drug was administered by infusion, its maximum blood levels were achieved earlier than after needle-syringe administration of the drug and were higher (22.