Vol. 1 No. 1 (2019)

Introduction. Currently breast cancer is considered a heterogeneous disease and spectrum of several biological subtypes. Ovarian cancer is also characterized by a variety of molecular genetic alterations. Both diseases remain the leading specific causes of death in age group 40-49 and 50-59 for females. Objective: to evaluate the frequency of mutations in the genes BRCA1/2 and CHEK2 in patients with breast cancer and patients with ovarian cancer, as well as in women with benign neoplasms of the mammary glands, and to analyze their clinical and morphological correlations with the disease characteristics in the routine clinical practice of an outpatient oncologist. Patients and Methods: Seventy-six women were included in the present analysis. All of them were observed by the oncologist in Consultative and diagnostic center of Burdenko Main Military Clinical Hospital (Moscow) between January 2016 and May 2019, and were divided in three groups: patients with breast cancer (n=20), patients with ovarian cancer (n=17) and control group of women with benign neoplasms of the mammary glands (fibrocystic mastopathy in 29, breast fibroadenoma in 11), with no history of any oncological disease. One patient has metachronous malignant neoplasms of independent (primary) multiple sites: breast and ovarian cancer. All women were genotyped for pathogenic germline mutations 185delAG, 300T>C (Cyse61Gly), 2080delA, 3819delGTAAA, 3875delGTCT, 4153delA, 5382InsC in the gene BRCA1, mutation 6174delT in the gene BRCA2 and mutations IVS2+1G>A, I157T and IVS2+1G>A in the gene CHEK2 by polymerase chain reaction real-time using a set “OncoGenetics” (LLC «Research and Production Company DNA-Technology», Russia, registration certificate № 2010/08415). Results: Pathogenic germline BRCA1 mutations were identified in 4 (20%) patients with breast cancer, 3 (17,6%) patients with ovarian cancer and 1 (2,5%) women with breast fibroadenoma. Pathogenic germline CHEK2 mutations were identified in 3 (15%) patients with breast cancer, all cases were represented by the I157T mutation. In the control group carriers of BRCA1 or BRCA2 mutations (n=2) were associated with early onset development of breast fibroadenoma in the age before 30 years. The risk of BRCA or CHEK2 mutated genes was significant higher in patients with breast cancer (45%, HR 9.0, 95% CI: 2.14 - 37.8) compared with the control group of women with benign breast tumors (5%, p <0.001). The risk of BRCA or CHEK2 mutations was also higher in patients with ovarian cancer (17.6%, HR 3.53, 95% CI: 0.65 – 19.26) compared with the control group (5%), but the difference did not reach significance (p=0.151). Genotyping BRCA and CHEK2 results were correlated (r = 0.423) with a family history: mutations were more often detected in women with a family history of cancer (42.9% versus 7.3%, p = 0.001). Women with identified mutations showed an increased risk of early onset cancer development before the age of 50 years (69.2%, HR 4.33, 95% CI: 1.64 - 11.36, p = 0.003) compared with wild-type carriers BRCA and CHEK2 genes (16%). The only case of primary multiple metachronous malignant tumors of the breast and ovaries, as well as cases of bilateral breast cancer lesions were detected only among carriers of BRCA1/2 mutations. The prevalence of aggressive high grade cancer was higher in patients with BRCA and CHEK2 mutations (63.6%, HR 2.45, 95% CI: 0.87 - 6.90) than in patients with wild type genes (47.1 %), however, the difference did not reach significance (p = 0.141). Conclusions: Our results have shown the relevance and value of identifying for BRCA- and CHEK2-related breast cancer and ovarian cancer in women in everyday clinical practice. The vast majority of cases of breast and ovarian cancer among carriers of BRCA1/2 and CHEK2 mutations are found in the working and reproductive age of women and are associated with unfavorable disease characteristics - high grade and lower survival.

Introduction. The course of lymphoproliferative diseases accompanied by the secretion of paraproteins is complicated by damage to the kidneys and the development of renal failure. There is a pathogenetic relationship between the physicochemical properties of monoclonal proteins and renal pathology. Objective: to find out the relationship between the type of monoclonal paraprotein, the level of its secretion and the degree of renal failure in lymphoproliferative diseases. Patients and methods. We analyzed 108 patients with lymphoproliferative diseases in whom secretion of paraprotein was detected. Age from 31 to 86 years (median 62.5 years). Chronic kidney disease (CKD) was diagnosed in 78 out of 108 patients. Results. CKD was diagnosed in patients with multiple myeloma. Stage III CKD was diagnosed in 28 (35.9%) patients, stage IV - in 14 (17.9%), stage V - in 19 (24.4%). 91 patients were diagnosed with concomitant diseases predisposing to the development of renal pathology. In the blood serum of patients with paraproteinemic hemoblastosis in combination with CKD, the vast majority were patients with the secretion of Gκ and Gλ paraproteins, free light chains (FLC). In a significant number of patients, Bens-Jones protein (BJ) in urine was determined. Less commonly, the secretion of paraproteins Dλ, Aλ, Aκ and Mκ was determined. The highest level of pathological proteins of all classes and their structural components and fragments was observed in patients with stage III CKD. A negative correlation of glomerular filtration rate (GFR) with FLCκ in the blood (r = –0.21), GFR with BJκ (r = –0.35), GFR with FLCλ in the blood (r = –0.13), GFR c BJλ, which indicates a tendency to damage the kidneys of FLC and protein BJ. Conclusion. In patients with lymphoproliferative diseases accompanied by monoclonal secretion of paraprotein and kidney damage with the development of CKD, in most cases the blood paraproteins Gκ, Gλ, FLCκ and FLCλ as well as protein BJ in urine, were determined. Paraproteins Aκ, Aλ, Mκ, Mλ, Dλ were determined much less frequently in serum. The highest level of pathological Ig and their structural components was observed in patients with stage III CKD. No association with quantitative level, type of paraprotein, and kidney damage was found. The role of FLC and BJ protein in the development of nephropathy has been confirmed.

Introduction.Aortic valve stenosis is the most common valvular pathology in cardiac surgery patients: aortic valve stenosis correction surgery accounts for 10 to 22% of open-heart surgery. 30% of senile patients with severe aortic stenosis due to severe comorbidity and high operational mortality are denied prosthetics of the aortic valve under cardiopulmonary bypass. With the appearance of endovascular correction - minimally invasive surgical treatment methodsthe problem of choosing a method of correction of severe aortic stenosis in these patients arose. Objectives. To select a method for surgical correction of severe aortic valve stenosis in senile patients, determine the place of intra-aortic valvuloplasty in treatment, and create an algorithm for treatment of senilepatients. Patients and methods. The study included 122 patients >75 years old with severe aortic stenosis, confirmed by echocardiography (aortic valve area 40 mm Hg, peak velocity (aortic valve) >4.0 m/s), undergoing treatment at Cardiovascular Surgery Dept of the BurdenkoMain Military Clinical Hospital in 2010 – 2017. Due to the high surgical risk, patients of the first group (n = 89) underwent only conservative drug therapy, patients of the second group (n = 12) underwent prosthetic aortic valve replacement under cardiopulmonary bypass, and patients of the third group (n = 8) underwent balloon aortic valvuloplasty valve, after which 7 of them entered the fourth group, patients of the fourth group (n = 20) performed Transcatheter Aortic Valve Implantation . Results. In the maximum follow-up three-year period, the mortality rate in patients of the first group was 49.5%, the severity of heart failure in most of the surviving patients was at III-IV Class(NYHA); mortality in the second group of observation was 16.6%, there was a decrease in the severity of heart failure - the transition of most patients from III - IV to II Class (NYHA); in 7 out of 8 patients of the third group, after performing aortic valve valvuloplasty, hemodynamic stabilization was noted - in 5 patients there was a decrease in the manifestations of heart failure to III Class and in 2 patients - to II Class (NYHA), all of them entered the fourth group, in which, after performing TIAK the mortality was not notedduring the three-year observation of. Conclusions. In senile patients, surgical treatment of severe aortic stenosis is the method of choice and can significantly increase the one-year and three-year survival. In the group of senile patients with high surgical risk, endovascular correction of aortic stenosis is preferred. Balloon valvuloplasty of the aortic valve can be considered as a stage in the surgical treatment of severe aortic stenosis in patients with extremely high surgical risk. The next step in this group of patients should be performed transcatheter implantation of the aortic valve. The developed algorithm of a differentiated approach to the choice of a treatment method for severe aortic stenosis in senile patients allows a 32% increase (p <0.05) in the number of cases of radical surgical care for senile patients previously considered unpromising due to the impossibility of surgical treatment.

Introduction:According to the information of Ministry of Health of the Russian Federation 12532 people died of prostate cancer in 2016.Detectability of the prostate cancer is increased over the past few years. It is discovered at earlier stages.Today the best practice of treatment a localized prostate cancer is the radical retropubic prostatectomy. The main method for prevention of postsurgical vesicourethral anastomosis stricture is the formation of sealed anastomosis with a exact comparison of mucous membranes without tissue tension. Purpose of the study: to investigate the early and long-term outcomes of the use of new technology on the number of postoperative strictures of the proximal urethra. Objective: to conduct a comparative study of the effect of intraluminal and non-intraluminal sutures in the vesicourethral anastomosis on the risk of postoperative vesicourethral strictures. Patients and Methods:We have performed 126 radical retropubic prostatectomies from January 2016 to December 2016.Patients are splitted in two groups. In the first group (87 patients) intraoperative vesicourethral anastomosis was performed according to classical scheme with intraluminal sutures.In the second group (39 patients) anastomosis was formed without mucous.When you put a cystourethral anastomosis operating a prostate cancer during a radical retropubic prostatectomy, it is appropriate to use suture without mucous. In our medical center formation of vesicourethral anastomosis is performed with Bicril 3/0 thread.For all patiens 5 ligatures were applied on anstomosis.Anasomosis leakage was checked by filling urinary bladder with 100 ml.All patients were examinated in 3, 6 and 9 months after the operation.The examination included computer tomography of the chest, abdomen and pelvis with contrast, transrectal ultrasonography, ultrasonography of the urinary bladder (to measure residual urine) and uroflowmetry. If the urination rate was below 15 ml/s, retrograde urethrography was performed. Main outcomesUrethral drainage was performed during 10.3 ± 3 days in the first group and during 9.9 ± 3 days in the second group.Vesicourethral anastomosis stricture was observed in 22 (25.2¬%) cases in the first group and in 6 (15.3%) cases in the second group. Сonclusions: This method allows one to avoid the eversion of the urinary bladder which decreases the operation time and probability of the bladder neck injury.

Mutual complications of impaired lung and kidney function in severe pneumonia (SP) complicated by acute kidney damage (AKP) are considered. The lungs and kidneys perform some similar functions, such as detoxification and regulation of acid-base balance. Lung damage is complicated by dysfunction or impaired renal function, and vice versa, AKI depressively affects lung function. Initially, all organs and tissues, including the kidneys, suffer from hypoxemic respiratory failure. SP is characterized by increased production of inflammatory mediators, decay products of microorganisms and their toxins and ejection them into the bloodstream. Endothelial vascular insufficiency, disseminated microvascular thrombosis, central hemodynamic disorders develop, and as a result, multiple organ failure develops. With the development of AKI, the elimination of uremic toxins and water is disrupted, hyperhydration is formed with an increase in the volume of extravascular water in the lungs on the background of the already existing broken airborne barrier. Uremic toxins depressively affect the heart muscle on the background of an acute pulmonary heart. There is evidence of a negative effect of mechanical ventilation on kidney function, and, conversely, of an adverse effect of AKI on the need and duration of ventilation. The progression of TP and AKP disrupts the acid - base balance due to excess CO2, impaired H+ ion release, and impaired synthesis of HCO3. The pathophysiological mechanisms underlying these relationships are complex, and their effect on the course of the disease is significant.

Extraosseous manifestations are found in less than 5% of patients with multiple myeloma. Involvement of the gastrointestinal system in the course of multiple myeloma (MM) is extremely rare. Imaging is required for correct staging, in the followup after treatment and is predictor of prognosis. Several imaging technologies are used for the diagnosis and management of patients with MM. Conventional radiography, computed tomography (CT), magnetic resonance imaging (MRI) and nuclear medicine imaging - positron emission tomography (PET) combined with CT (PET/CT) and PET combined with MRI (PET/MRI) are all used in clarifying the extent of bone and soft tissue lesions in MM. The brief literature review on extramedullary lesions in MM and their imaging with recommendations is given. We describe the imaging in diagnostics and management of an rare case of secondary extramedullary plasmacytoma (EMP) in relapse involving the pancreas and duodenum with the bleeding in a patient with MM, IgA lambda, stage II, after 6-years treatment with chemotherapy, autologous peripheral blood stem cell transplantation and radiotherapy. EMP was detected by PET/CT before the appearance of obvious clinical signs, and then EMP was monitoring by PET/CT, X-ray and ultrasound.

The biography of Fyodor Petrovich (Ivanovich) Haaz (Friedrich Joseph Laurentius Haass) (1780 - 1853) - Moscow doctor (1806 - 1853), a German origin, scientist, public health administrator, an outstanding humanist doctor of the first half of the 19th century, a philanthropist, known as the "Holy doctor", is showed in the article. Court Advisor (1811), College Counselor (1826), Knight of the Order of St. Vladimir of the fourth degree (1811), Order of St. Anna of the 2nd degree (181?) of The Russian Impire. A doctor in the army during the Patriotic War of 1812 (from January 1814), head physician of the Moscow Pavlovsk Hospital (1807-1812, 1814-1825), Head of the Moscow Medical Office (1825-1826), one of the founders of the Moscow Eye Hospital (1826), a member of the Moscow Prison Committee and the head doctor of Moscow prisons (1826-1853), the head doctor of the Moscow Catherine Hospital (1840-1844), the founder and head doctor of the Moscow Police (later - Alexander) hospital, popularly called the "Haaz" (1844- 1853). One of the founders of Russian balneology and balneology, who made a great contribution to the development of climatology and meteorology, pioneer in the resorts in the North Caucasus (1809-1810). The creator of lightweight individual shackles, he achieved their introduction at the exile stages to replace the riveting to a common rod for 6-12 convicted. The development of deontology in the 19th century, a science that studies the ethical standards and principles of a doctor’s behavior, as well as certain responsibilities towards the patient, is inextricably linked to the name of Dr. F.P. Haaz [F. Haass]. The life and work of this outstanding humanist physician is a wonderful example of high morality in the fulfillment of his professional duties and genuine nobility in serving the sick and suffering people. The motto of Dr. Haass’ life and professional work was borrowed from the Apostle Paul: “Hurry to do good” (in Galatians (6: 9-10) and in the second letter to The Thessalonians (3:13)). At present, the process of beatification has begun - the canonical process of classifying F. Haass as a blessed Catholic church.