Predictive potential of ACE phenotyping in extrapulmonary sarcoidosis.

Elevated ACE expression in tissues (reflected by blood ACE levels) is associated with increased risk of cardiovascular diseases and is also a marker for granulomatous diseases. We developed a new approach for characterization of ACE status in the blood-ACE phenotyping and established normal values of ACE levels 50-150% of control pooled plasma. ACE phenotyping was performed in citrated plasma of 120 patients with known interstitial lung diseases.

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow. Approximately 11% of 11,876 detected variants were not found in the Single Nucleotide Polymorphism Database (dbSNP) or reported earlier in the Russian population. Most novel variants were singletons and doubletons in our sample, and virtually no novel alleles presumably specific for the Russian population were able to reach the frequencies above 0.

Phenotyping Angiotensin-Converting Enzyme in Blood: A Necessary Approach for Precision Medicine.

Background: Angiotensin-converting enzyme (ACE) metabolizes a number of important peptides participating in blood pressure regulation and vascular remodeling. Elevated ACE expression in tissues (which is generally reflected by ACE in blood) is associated with increased risk of cardiovascular diseases. Elevated ACE in blood is also a marker for granulomatous diseases.

Cystic Fibrosis Polymorphic Variants in a Russian Population.

Purpose: Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of polymorphic variants in the gene and to establish their allelic frequencies (AF) in one of the Russian regions where ethnic Russians predominate.

The , , and Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of , , and genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood.

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the , , and genes.

Tissue ACE phenotyping in prostate cancer.

Epithelial cells of prostate express significant level of ACE and, as a result, seminal fluid has 50-fold more ACE than plasma. The substitution of highly specialized prostate epithelial cells by tumor cells results in dramatic decrease in ACE production in prostate tissues. We performed detailed characterization of ACE status in prostate tissues from patients with benign prostate hyperplasia (BPH) and prostate cancer (PC) using new approach- ACE phenotyping, that includes evaluation of: 1) ACE activity with two substrates (HHL and ZPHL); 2) the ratio of the rates of their hydrolysis (ZPHL/HHL ratio); 3) the ratio of immunoreactive ACE protein to ACE activity; 4) the pattern of mAbs binding to different epitopes on ACE - ACE conformational fingerprint - to reveal conformational changes in prostate ACE due to prostate pathology.

[Respiratory support in anaesthetic management for thoracic surgery and their comparative characteristics: over 2000 anaesthesia experience].

The article deals with the first comparative study of haemodynamics, gas exchange, and metabolic lung finction in patients with underlying respiratory and cardiovascular diseases. Different anaesthesia and ventilation (conventional AVL, OLV differentiated ALV) techniques were used. Respiratory support methodology with the use of HFV or CPAP during the main phase of thoracic surgery in patients with severe associated cardio-respiratory diseases was developed.

[Ketamine versus propofol during one-lung ventilation in thoracic surgery].

A comparative analysis of gas, the metabolic rate, pressor, resistive and volumetric characteristics of pulmonary blood flow, central and intracardiac hemodynamics in patients undergoing thoracic surgery was conducted. 2 methods of anesthesia maintenance: on the basis of ketamine - fentanyl - pipecuronium and propofol - fentanyl - pipecuronim were compared. Invasive monitoring system PiCCOplus for the behaviour of the transpulmonary thermodilution (TT) in combination with VoLEF for the pulmonary thermodilution (PT) the change of ventilation mode ALV - OLV - ALV was used.

[Etiology, prophylaxis and treatment of extensive, multifocal cicatricial tracheal stenosis at the junction of sciences--surgery and anesthesia].

759 patients with cucatritial stenosis of trachea were treated in the Russian Scientific Center of Surgery in the period from 1963 to 2009. Extensive or multifocal stenosis was diagnosed in 172 patients. 157 patients were previously operated in other hospitals.

[High level thoracic epidural analgesia as a special component of anesthesia during thoracic surgeries].

This article is devoted to assessing the adequacy and safety of total intravenous anesthesia based on constant dosed infusion of propofol and high thoracic epidural analgesia in thoracic surgical procedures requiring an artificial one-lung ventilation in patients with concomitant chronic cardiorespiratory disorders compared to TIVA without a high thoracic epidural analgesia. Comparative analysis of gas exchange, metabolic rate, pressor, resistance and volumetric characteristics of pulmonary blood flow, central and intracardiac hemodynamics was conducted. We used high technology invasive monitoring system PICCOplus for transpulmonary thermodilution in combination with VoLEF for pulmonary thermodilution in changing modes of ventilation MV-MSL V-MV.

[Effect of propofol-based combined anesthesia on the development of adaptive mechanisms to the prolonged one-lung artificial ventilation].

The paper deals with the assessment of the adequacy and safety of multicomponent anesthesia based on propofol at lung surgery requiring one-lung ventilation (OLV) in patients with chronic respiratory diseases and with the evaluation of the effect of propofol on the development of adaptive mechanisms in various ventilation modalities in thoracic surgery. The pressor, resistive, and volume characteristics of pulmonary blood flow, systemic and intracardiac hemodynamics under artificial ventilation (AV) and OLV of a duration of up to 1.5 hours by a combination of pulmonal and transpulmonal thermodilution on a PiCCO plus device with a VOLEF attachment were compared.

[Respiratory provision of reconstructive operations for extended and multifocal tracheal stenosis].

The paper describes new approaches to anesthetic maintenance of reconstructive operations for multifocal and extended tracheal stenoses. The authors state a pathophysiological concept of and guidelines for respiratory approaches ensuring effective gas exchange and adequate hemodynamics at stages of various plastic repairs. Specifically, they describe the specific features of respiratory provision of rare surgical interventions: two-level tracheal resection and reconstruction and thyrotracheal complex transplantation in subtotal tracheal lesion.