Rare Variants of the Gene Detected during Neonatal Screening.

During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular atrophy (5q SMA). Within the 253-sample risk group formed based on the results of the first screening stage, 5 samples showed a discrepancy between the examination results obtained via various screening methods and quantitative MLPA (used as reference). The discrepancy between the results was caused by the presence of either a c.

Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.

Background: This study presents the findings of a newborn screening (NBS) pilot project for 5q-spinal muscular atrophy (5q-SMA) in multiple regions across Russia for during the year 2022. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of 5q-SMA in Russia as well as the distribution of patients with different number of SMN2 copies.

Methods: The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns.

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period.

Thoracoscopic Radiofrequency Fragmentation of the Left Atrium as a Bridge to Decision Before Heart Transplant.

Objectives: Atrial fibrillation and congestive heart failure can provoke and aggravate each other. Often the boundaries between those diseases are ambiguous, and successful diagnosis is initially elusive. However, the last stage of congestive heart failure can lead the patient to heart transplant.

The Technology of Homogeneous Scar Tissue Creating as a Result of Ablation of the Atrial Wall with a Radiofrequency Bipolar Clamp: an Experimental and Clinical Study.

Introduction: The objective of this study was to develop a radiofrequency ablation technique to create a homogeneous scar tissue in the atrial myocardium.

Methods: In the double-blinded morphological stage of the study, the left atrial appendage was used as an anatomical model to investigate the efficacy of one experimental and two conventional techniques to create ablation lines. Then, these lines were studied by morphologists.

Acute Effect of Selective Chemical Inactivation of Sympathetic or Parasympathetic Atrial Ganglionated Plexus Structures on Atrial Fibrillation Inducibility in Pigs.

We studied the role of both parts of the autonomic intracardiac nervous system in the pathogenesis of atrial fibrillation (AF). In 12 pigs weighing 39±3 kg, AF was induced by burst stimulation. Chemical inactivation of intrinsic cardiac neurons within the right atria was performed by transendocardial injections of liposomal neuromodulators into the dorsal part of the right atrial wall.

Modeling of Acute Pulmonary Arterial Hypertension in Pigs Using a Stable Thromboxane A Analogue (U46619): Dose Adjustment and Assessment of Hemodynamic Reactions.

U46619, a synthetic analogue of thromboxane A2 was used for modeling acute stable and reversible pulmonary arterial hypertension. Administration of U46619 in high doses led to vascular collapse and inhibition of cardiac function. The doses of U46619 were empirically selected that allow attaining the target level of pulmonary hypertension without systemic hemodynamic disturbances.

Surgical treatment of atrial fibrillation: technique of thoracoscopic radiofrequency fragmentation of the left atrium.

Presented in the article is a detailed description of a modified technique of minimally invasive surgical treatment of patients with atrial fibrillation - thoracoscopic radiofrequency fragmentation of the left atrium. This modification differs from the prototype GALAXY procedure by a significant increase of the 'quantitative' rather than 'qualitative' parameter of surgical aggression in relation to the left atrium. This technique results in creation of multiple transmural continuous closed lines of lesion to the left atrium and, consequently, a reduced risk of inadequate surgical treatment for atrial fibrillation.

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us.

Organisational basics of medical rehabilitation improvment in the health resort organisatons of the Armed Forces.

The article provides description of modern status of the system of medical rehabilitation for servicemen of the Armed Forces on the level of health resort treatment. Authors give results of work analysis of military health resort institutions, concerning medical rehabilitation for military servicemen. Studied problem issues, defined main ways of medical rehabilitation organization improvement in health resort treatment institutions.

[The modified method registration of kinesthetic evoked potentials and its application for research of proprioceptive sensitivity disorders at spondylogenic cervical myelopathy].

Objective: To analyze the efficacy of modified (passive radiocarpal articulation flexion/extension) and «standard» (passive radiocarpal articulation flexion) methods of kinesthetic evoked potentials for proprioceptive sensitivity assessment in healthy subjects and patients with spondylotic cervical myelopathy.

Material And Methods: The study included 14 healthy subjects (4 women and 10 men, mean age 54.1±10.

Congenital anomalies in Primorsky region.

Background: According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1].

[Effect of auto-road complex in the city of Surgut on air pollution and population health].

Currently, due to the increase in motorization, the problem of environmental pollution by emissions of objects of auto-road complex is becoming more and more important not only for cities, butfor dynamically developing regional cities. The negative impact is characterized by the increase of the morbidity rate of environmentally-dependent diseases, primarily respiratory diseases, neoplasms. This exposure is most pronounced near the motorways, at the gas station, and also spreads to residential areas, which requires the optimization of protective and preventive measures.

A new method for registration of kinesthetic evoked potentials for studies of proprioceptive sensitivity in normal subjects and patients with organic lesions in the brain.

The proprioceptive sensitivity of healthy volunteers and convalescents after acute cerebrovascular episodes was studied by a new neurophysiological method for registration of kinesthetic evoked potentials emerging in response to passive 50(o) bending of the hand in the wrist joint with the angular acceleration of 350 rad/sec(2). Kinesthetic evoked potentials were recorded above the somatosensory cortex projection areas in the hemispheres contra- and ipsilateral to the stimulated limb. The patients exhibited significantly longer latencies and lesser amplitudes of the early components of response in the involved hemisphere in comparison with normal subjects.

[Environmental and hygienic aspects of the prevalence of congenital anomalies in Primorskiĭ territory].

The authors have conducted an environmental and hygienic evaluation of the prevalence of congenital anomalies in the Primorye Territory. It has been found that there is a considerable rise in congenital anomalies in children and adolescents, which is predicted for the coming 5 years. The prevalence of congenital anomalies in the region depends on the bioclimatic zone and environmental situation.

[Sanitary-epidemiological situation in town Verkhnyaya Pyshma in 2006].

Information on medical and demographic as well as sanitary-epidemiologic situation in town Verkhnyaya Pyshma is presented. The town belongs to group of territories with unfavourable ecologic situation. It was shown that social, economical, and sanitary-hygienic factors influence on public health.

Temporal evolution of an electron-free afterglow in the pulsed plasma polymerisation of acrylic acid.

By use of time and energy-resolved mass spectrometry, negative ions with masses ranging from m/z = 1-287 amu have been observed in the afterglow of a low-pressure (10 mTorr) pulsed acrylic acid polymerizing plasma. The most intense peaks, seen at m/z = 71, 143, 215, and 287, are assigned to the dehydrogenated oligomer of the form [nM-H](-) for n = 1, 2, 3, and 4, respectively. The results strongly suggest that both m/z = 71 and 143 ions are produced in the on period of the pulse cycle (0.

[Organization of fractional monitoring of ambient air pollution by suspended matter in Russia].

The authors consider the organization of a system for monitoring of ambient air pollution by suspended matter (by fractions of less than 10 microm and less than 2.5 microm) as one of the most urgent tasks in the harmonization of the Russian and western methods for assessing the quality of the environment. The frame plan for organization of ambient air suspended matter monitoring in the countries of Eastern Europe, Caucasia, and Central Asia, proposed by the WHO European Regional Office provides basic guidelines for this system and may be adapted to Russian conditions, as evidenced by the author's experience.

Detection of negative molecular ions in acrylic acid plasma: some implications for polymerization mechanisms.

There is much scientific and commercial interest in plasma polymers to modify surface chemistry. To date, only neutral and positively charged species have been detected in the commonly applied acrylic acid plasma. Using time-averaged negative ion mass spectrometry, we demonstrate that large, negatively charged species exist in the plasma, contrary to previous studies that detected only neutral and positive species.

[Comparative study of the antiarrhythmic activity of L-, D-and DL-stereoisomers of potassium magnesium aspartate].

Injection forms of potassium (K) and magnesium (Mg) aspartate (Asp) were compared in preventing cardiac disorders caused by electrolytic disturbances, primarily low K and Mg levels (e.g. caused by the treatment with cardiac glycosides and diuretic drugs).

Pulsed and continuous wave acrylic acid radio frequency plasma deposits: plasma and surface chemistry.

Plasma polymers have been formed from acrylic acid using a pulsed power source. An on-pulse duration of 100 micros was used with a range of discharge off-times between 0 (continuous wave) and 20,000 micros. X-ray photoelectron spectroscopy (XPS) has been used in combination with trifluoroethanol (TFE) derivatization to quantify the surface concentration of the carboxylic acid functionality in the deposit.

[Central hemodynamics, gas exchange, and gas oxygen-transporting function in combined anesthesia using xenon during operations under extracorporeal circulation].

The advantages of xenon include its good hemodynamic profile and possible cardioprotective properties. The investigation was undertaken to study central hemodynamics, lung gas exchange, and blood oxygen-transporting function in xenon anesthesia in patients operated on under extracorporeal circulation (EC). Fifteen patients aged 41-69 years operated on for coronary heart disease were examined.

[Prevention of iron deficiencies in high-qualification athletes].

The studies of 39 high-grade unarmed self-defense sportsmen established that enrichment of diets with a complex of vitamins and trace elements in combination with adaptogens in the summer period of training was followed by an increase in the concentration of iron in the plasma and blood corpuscles and in the count of red blood cells, the supply of vitamin C, and the level of efficiency. With a significantly improved iron metabolism, the parameters of immunological responsiveness substantially increased. At the same time the greatest increase in the proportion of performance and natural, cellular, and humoral immunity was observed in the sportsmen taking micronutrients with eleutherococcus, and ginseng in particular, as compared with those using a vitamin-micronutrient complex with dibasol.