1Moscow Clinical Research and Practical Center, Moscow Healthcare Department, Moscow; 2A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow; 3Kazan State Medical University, Kazan; 4Kazan (Volga) Federal University, Kazan; 5Far Eastern State Medical University, Ministry of Health of Russia, Khabarovsk; 6Morozov City Children’s Clinical Hospital, Moscow Healthcare Department, Moscow; 7I.I. Mechnikov North-Western State Medical University, Ministry of Health of Russia, Saint Petersburg; 8Siberian State Medical University, Ministry of Health of Russia, Tomsk; 9M.F. Vladimirsky Moscow Regional Research Clinical Institute, Moscow; 10Maimonides State Classical Academy, Moscow; 11V.I. Razumovsky Saratov State Medical University, Saratov; 12I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow; 13S.M. Kirov Military Medical Academy, Ministry of Defense of the Russian Federation, Saint Petersburg; 14Surgut State Medical University, Ministry of Health of Russia, Surgut; 15City Clinical Hospital Five, Moscow Healthcare Department, Moscow; 16Nizhny Novgorod Medical Academy, Ministry of Health of Russia, Nizhny Novgorod; 17Territorial Clinical Hospital Two, Ministry of Health of the Krasnodar Territory, Krasnodar; 18Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia, Saint Petersburg; 19Rostov State Medical University, Ministry of Health of Russia, Rostov-on-Don; 20Omsk Medical University, Ministry of Health of Russia, Omsk; 21Russian Medical Academy of Postgraduate Education, Ministry of Health of Russia, Moscow; 22Novosibirsk State Medical University, Novosibirsk; 23Stavropol State Medical University, Ministry of Health of Russia, Stavropol; 24Kemerovo State Medical University, Ministry of Health of Russia, Kemerovo; 25N.I. Pirogov Russian Research Medical University, Ministry of Health of Russia, Moscow; 26A.M. Nikiforov All-Russian Center of Emergency and Radiation Medicine, Ministry of Emergency Situations of Russia, Saint Petersburg; 27Federal Research Center, Krasnoyarsk Research Center, Siberian Branch, Russian Academy of Sciences, Research Institute of Medical Problems of the North, Krasnoyarsk; 28S.P. Botkin City Clinical Hospital, Moscow Healthcare Department, Moscow; 29Tver State Medical University, Ministry of Health of Russia, Tver The Russian consensus (a consensus document) on the diagnosis and treatment of chronic pancreatitis has been prepared on the initiative of the Russian «Pancreatic Club» under the Delphi system. Its aim was to identify and consolidate the opinions of Russian experts on the most topical issues of the diagnosis and treatment of chronic pancreatitis. The interdisciplinary approach involved the participation of leading gastroenterologists, surgeons, and pediatricians.

The availability of modern high-precision diagnostic methods increased the detection rate of pancreatic neuroendocrine neoplasia (pNEN). There is no doubt concerning the necessity of surgical treatment for localized functioning tumors, whilecurrently there is no objective way to choose the tactic for non-functioning asymptomatic neuroendocrine tumors of the pancreas (pNET) with the exception of the tumor size.Treatment tactics for non-functioning asymptomatic T1 neuroendocrine tumors (less 2 cm in size) are debatable. According to literature surgical treatment for lesions less than 2 cm does not always increase survival. In the same time even in high-volume centers pancreatic surgery shows high morbidity and mortality rate. Prospective randomized trials comparing surveillance and operative treatment are not published yet, as far as authors concerned. International guidelines answer the question of treatment such neoplasms ambiguously, while national Russian recommendations do not cover the topic. Guidelines are based on heterogeneous retrospective studies; therefore, the aim of scientific research is to determine reliable criteria for patient selection for dynamic observation or surgical treatment.This article provides an overview of 60 scientific publications covering the problem.

Introduction. Prostate cancer is the second most commonly diagnosed malignant neoplasm in men. The development of technologies requires the study of advanced research methods, an extraordinary, new limited-invasive method for diagnosing cancer - histoscanning of the prostate. Histoscan is an innovative imaging technique that is potent of differentiating between benign and malignant areas within the examined prostate tissue. With the new “True Targeting” software, it is possible to perform a “targeted” biopsy in real time. Purpose. To determine the efficacy and safety of performing histoscan-guided targeted biopsy of the prostate. Materials and methods. The prospective study with the inclusion of data from 2501 patients examined at the Clinic of urology of the Moscow State Medical University named after A.I. Evdokimov at the Municipal Clinical Hospital named after S.I. Spasokukotsky. Results. The average age of the patients was 66 years, the level of prostate specific antigen was about 14,39 ng/ml, the volume of the prostate was 54,43 cm3. The overall incidence of prostate cancer was 53,38%, with a biopsy of 12 points - 52,1%, while with a targeted biopsy- 37,58%. Among the biopsy complications, hemospermia (Clavien-Dindo - I) was most often (33% of cases), hematuria (Clavien-Dindo - I-II) in 15% of cases. No serious complications were identified. Limitations. As restrictions, the following were identified: prostate biopsy-subject, 2501 patients - a quantitative parameter, patients with suspected prostate cancer - a qualitative indicator. Conclusion. The published results of the study showed that histoscan-guided biopsy ofthe prostate is safe, effective, and therefore has alarge potential in cancer diagnosis, as it helps both in choosing a treatment method and in planning the course of further surgery.

More than 275 million people in the world are carriers of a heterozygous mutation of the CFTR gene, associated with cystic fibrosis, the most common autosomal recessive disease among Caucasians. Some recent studies assessed the association between carriers of CFTR variants and some pathologies, including cancer risk. The aim of this study is to analyze the landscape of germline pathogenic heterozygous CFTR variants in patients with diagnosed malignant neoplasms. For the first time in Russia, we evaluated the frequency of CFTR pathogenic variants by whole-genome sequencing in 1800 patients with cancer and compared this with frequencies of CFTR variants in the control group (1825 people) adjusted for age and 10,000 healthy individuals. In the issue, 47 out of 1800 patients (2.6%) were carriers of CFTR pathogenic genetic variants: 0.028 (42/1525) (2.8%) among breast cancer patients, 0.017 (3/181) (1.7%) among colorectal cancer patients and 0.021 (2/94) (2.1%) among ovarian cancer patients. Pathogenic CFTR variants were found in 52/1825 cases (2.85%) in the control group and 221 (2.21%) in 10,000 healthy individuals. Based on the results of the comparison, there was no significant difference in the frequency and distribution of pathogenic variants of the CFTR gene, which is probably due to the study limitations. Obviously, additional studies are needed to assess the clinical significance of the heterozygous carriage of CFTR pathogenic variants in the development of various pathologies in the future, particularly cancer.

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature. Materials and Methods: We describe a 23-year-old male patient with autism spectrum disorder (ASD) who was admitted to the gastroenterological hospital with signs of pseudomembranous colitis. ASD was first noted in the patient at the age of 2.5 years. Later, he developed epileptic seizures and important growth retardation. Prior to the hospitalization, chromosomal aberrations, Fragile X syndrome, and aminoacidopathies/aminoacidurias associated with ASD were excluded. Whole-genome sequencing (WGS) was prescribed to the patient at 23 years old. Results: The patient had a heterozygous carrier of “de novo” variant c.662C > T (p.S221L) in exon 4 of the DEAF1 gene. c.662C > T had not been previously described in genomic databases. According to the ACMG criteria, this missense variant was considered to be pathogenic. VSVS was diagnosed in the patient. Conclusions: The phenotype of the patient is very similar to the data presented in the world literature. However, growth retardation and cachexia, which have not been described previously in the articles, are of interest.