Towards the matter of genetic consulting in various forms of congenital and hereditary eye diseases

Purpose. To evaluate the results in genetic consulting of patients with various forms of congenital and hereditary eyes pathology.Material and methods. The study is based on an analysis of results in genetic consulting and molecular genetic investigations of DNA samples of 18 patients: congenital corneal dystrophy (n=3); congenital cataract (n=11); Norrie disease (n = 4). All patients had a comprehensive ophthalmologic clinical and functional examination according to the forms of pathology. Geneticist physician conducted a genealogical analysis. A study of exons and flanking intronic regions was performed using methods of analysis of amplified fragment length polymorphism, restriction fragments and direct sequencing.Results. The clinical diagnosis of endothelial corneal dystrophy with autosomal recessive mode of inheritance using molecular genetic methods in 2 of the 3 cases was confirmed, and a de novo mutation in the gene SLC4A11 non-described previously was found. In the group with hereditary diseases the lens pathogenic mutations were detected in the GJA3 andGJA8 genes in 2 of 11 cases (18%). Pathogenic mutations in NDP gene were detected only in 2 of 4 family members studied, and its sibling proband, directed to the genetic analysis of patients with a clinical diagnosis Norrie disease. In another of the studied probands the diseasecausing mutation was not reveled, and thus, the molecular genetic diagnosis of Norrie disease was not confirmed.Conclusion. For the first time in the Russian Federation pathogenic mutations in the gene SLC4A11 collagen, previously did not described in the literature, were revealed in patients with congenital endothelial corneal dystrophy, in a patient with congenital cataract in the gene GJA8. The success of genetic consulting depends on the complete genealogical analysis, and the correct determination of the clinical and genetic form of pathology

Magnetic-field-dependent zero-bias diffusive anomaly in Pb oxide-n-InAs structures: Coexistence of two- and three-dimensional states

The results of experimental and theoretical studies of zero-bias anomaly (ZBA) in the Pb-oxide-n-InAs tunnel structures in magnetic field up to 6T are presented. A specific feature of the structures is a coexistence of the 2D and 3D states at the Fermi energy near the semiconductor surface. The dependence of the measured ZBA amplitude on the strength and orientation of the applied magnetic field is in agreement with the proposed theoretical model. According to this model, electrons tunnel into 2D states, and move diffusively in the 2D layer, whereas the main contribution to the screening comes from 3D electrons.Comment: 8 double-column pages, REVTeX, 9 eps figures embedded with epsf, published versio

Results of thrombectomy in lower-extremity ischemia in patients with COVID-19 and respiratory failure of different severity

Aim. To analyze the results of thrombectomy in lower-extremity ischemia in patients with coronavirus disease 2019 (COVID-19) and respiratory failure of different severity.Material and methods. This retrospective, cohort, comparative study for the period from May 1, 2020 to March 1, 2022 included 305 patients with acute lower-extremity ischemia and COVID-19. Depending on the type of oxygen support, three groups of patients were formed: group 1 (n=168) — nasal oxygen insufflation; group 2 (n=92) — non-invasive ventilation (NIV); group 3 (n=45) — artificial ventilation (AV). Thrombectomy was carried out according to the standard technique using Fogarty catheters (3F-6F — depending on the vessel size). After the diagnosis was established before and after the start of surgical treatment, all patients received the following therapy: Unfractionated IV heparin infusion at an initial rate of 1000 U/r, adjusted to maintain the activated partial thromboplastin time at 2-3 times the normal value; 2. Oral acetylsalicylic acid 125 mg; 3. Analgesics.Results. Myocardial infarction and ischemic stroke were not detected in the total sample. The highest number of deaths (group 1: 5,3%, n=9; group 2: 72,8%, n=67; group 3: 100%, n=45; p<0,0001), retrombosis (group 1 : 18,4%, n=31; group 2: 69,5%, n=64; group 3: 91,1%, n=41; p<0,0001) and limb amputations (group 1: 9,5%, n=16; group 2: 56,5%, n=52; group 3: 91,1%, n=41; p<0,0001) was recorded in group 3 patients.Conclusion. In patients receiving mechanical ventilation, COVID-19 have more aggressive course, which is expressed in an increase in laboratory para- meters (C-reactive protein, ferritin, interleukin-6, D-dimer), the severity of pneumonia and location of thrombosis in the tibial arteries. Among patients with COVID-19 receiving mechanical ventilation, the greatest number of rethromboses (91,1%), limb amputations (91,1%), and deaths (100%) are noted, which suggests the expediency of abandoning open thrombectomy in favor of anticoagulant/antiplatelet therapy in this cohort of patients. The development of arterial thrombosis in patients with COVID-19 receiving mechanical ventilation is an indicator of a high risk of death. Open thrombectomy in combination with anticoagulant/antiplatelet therapy is most effective in patients on nasal oxygen insufflation or NIV

Thyroid cancer risk in Belarus among children and adolescents exposed to radioiodine after the Chornobyl accident

BACKGROUND: Previous studies showed an increased risk of thyroid cancer among children and adolescents exposed to radioactive iodines released after the Chornobyl (Chernobyl) accident, but the effects of screening, iodine deficiency, age at exposure and other factors on the dose-response are poorly understood. METHODS: We screened 11 970 individuals in Belarus aged 18 years or younger at the time of the accident who had estimated (131)I thyroid doses based on individual thyroid activity measurements and dosimetric data from questionnaires. The excess odds ratio per gray (EOR/Gy) was modelled using linear and linear-exponential functions. RESULTS: For thyroid doses \u3c5 \u3eGy, the dose-response was linear (n=85; EOR/Gy=2.15, 95% confidence interval: 0.81-5.47), but at higher doses the excess risk fell. The EOR/Gy was significantly increased among those with prior or screening-detected diffuse goiter, and larger for men than women, and for persons exposed before age 5 than those exposed between 5 and 18 years, although not statistically significant. A somewhat higher EOR/Gy was estimated for validated pre-screening cases. CONCLUSION: 10-15 years after the Chornobyl accident, thyroid cancer risk was significantly increased among individuals exposed to fallout as children or adolescents, but the risk appeared to be lower than in other Chornobyl studies and studies of childhood external irradiation

To the question of improving the outcomes of surgical treatment of genital prolapse in postmenopausal women

Currently, the frequency of genital prolapse in the structure of common gynecological diseases has no tendency to decrease and may take up to 15% of large gynecological operations. With the aim of improving outcomes of surgical treatment of this category of patients, at the stage of preoperative preparation and the postoperative period used vaginal capsules containing Lactobacillus + progesterone 2 mg + estriol 0.2 mg (Triozhinal). The study included 239 patients in postmenopausal women with genital prolapse and phenomena cystourethroscopy and vaginal atrophy. Of these, the main group consisted of 122 women who underwent the proposed scheme of preoperative preparation and postoperative period. Group comparisons were presented 117 patients admitted to the gynecological Department for surgical treatment of prolapse with traditional preoperative and postoperative management. The results of the study showed that in the group of patients receiving local therapy estriola in combination with progesterone and lactobacilli, was observed a significant improvement of the clinical picture of urinary disorders, quality of life, symptoms of urogenital atrophy during surgical correction of urinary incontinence or genital prolapse, and this tactic can be recommended as in the pre-and postoperative periods.В настоящее время частота пролапса гениталий в структуре гинекологических заболеваний не имеет тенденции к снижению и занимает до 15% гинекологических операций. С целью улучшения исходов хирургического лечения данной категории пациенток, на этапе предоперационной подготовки и в период послеоперационной реабилитации использованы вагинальные капсулы, содержащие лактобактерии + прогестерон 2мг + эстриол 0,2 мг (триожиналь). Под наблюдением находились 239 пациенток в постменопаузе с пролапсом гениталий и явлениями вагинальной и цистоуретральной атрофии. Из них основную группу составили 122 женщины, которым проводилась предложенная нами схема ведения предоперационной подготовки и послеоперационного периода. Группа сравнения была представлена 117 пациентками, поступившим в гинекологическое отделение с традиционной предоперационной подготовкой и послеоперационным ведением. Результаты исследования показали, что в группе пациенток, получающей локальную терапию эстриолом в сочетании с прогестероном и лактобактериями, наблюдалось значимое улучшение клинической картины расстройств мочеиспускания, показателей качества жизни, симптомов урогенитальной атрофии при хирургической коррекции недержания мочи или пролапса гениталий, и такая тактика может быть рекомендована как в пред-, так и в послеоперационном периодах

Combination use of anti-inflammatory drugs and myorelaxants in the treatment of patients with ankylosing spondylitis in outpatient settings

Objective: to assess different treatment regimens for ankylosing spondylitis (AS). The specific features of using topical and oral nonsteroidal anti-inflammatory drugs (NSAIDs) and myorelaxants in outpatient settings were retrospectively analyzed.Subjects and methods. The investigation enrolled 96 AS patients admitted to the Department of Rheumatology, Saratov Regional Clinical Hospital, in 2010 to 2012, who took nimesulide during the last year (at least three 14-day cycles). The patients' mean age was 42.6±10.9 years; disease duration was 11.9±8.2 years; 83.33% were male. The diagnosis of AS was based on the 1984 modified New York criteria. Physical examination (clinical blood analysis, clinical urinalysis, C-reactive protein, total protein, albumins, urea, creatinine, glucose, bilirubin, serum aspartate aminotransferase and alanine aminotransferase) was made. AS activity was determined using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). Axial skeleton mobility and cervical spine rotation were evaluated. Therapy received by the patients at the moment of hospitalization and the attending physicians' recommendations for discharging patients from the hospital were analyzed. Saratov outpatient physicians were interviewed using a questionnaire to specify the aims and procedures of using anti-inflammatory drugs.Results. The outpatient physicians (n=100) were shown to use three-, two-, and one-component therapy in 53.12, 45, and 2% of the AS patients, respectively. Higher lumbar spine mobility and comparably reduced pain were established in the patients receiving threecomponent therapy (a combination of nimesulide 200 mg/day, tizanidine 4–8 mg/day, and topical NSAIDs) than those who had NSAIDs only

VASCULAR WALL STIFFNESS IN PATIENTS WITH ANKYLOSING SPONDYLITIS: RESULTS OF A MULTICENTER STUDY

Objective: to study some vascular wall stiffness parameters in patients with ankylosing spondylitis (AS) without clinically manifest cardio­ vascular diseases. Subjects and methods. One hundred and six patients with AS and 21 healthy volunteers without cardiovascular diseases who were matched for age, gender, and cardiovascular risk were examined at two centers. Cardiovascular risk and vascular wall stiffness (augmentation index and pulse wave propagation velocity (PWPV)) were assessed by oscillography. Results. Vascular wall stiffness was comparable in the patients with AS (at both centers) and in the healthy individuals. PWPV was 7.45 (5.4–8.71) m/sec in the AS patients (n = 106) and 8.53 (6.28–9.5) m/sec in the healthy individuals (n = 21); the aortic augmentation in­ dex was 15.6 (7.9–31.1) and 21.1 (10.2–24) %, respectively; p > 0.05 for all. Correlation analysis revealed associations between aug­ mentation index, age, blood pressure, disease activity (BASDAI) and spine mobility (BASMI) scores. Conclusion. The vascular wall stiffness did not differ between AS patients without cardiovascular diseases and cardiovascular risk­matched healthy individuals. Its parameters were related to age, blood pressure, and disease activity (BASDAI) and axial skeleton immobility (BASMI) indices