Papers by Natalia Bodunova
Surgical Endoscopy, 2015
Background Utilization of bariatric surgery has changed dramatically over the past two decades. T... more Background Utilization of bariatric surgery has changed dramatically over the past two decades. The aim of this study was to update the trends in volume and procedural type of bariatric surgery in the USA. Data were derived from the National Inpatient Sample from 2009 through 2012. Methods We used ICD-9 diagnosis and procedural codes to identify all hospitalizations during which a bariatric procedure was performed for the treatment of severe obesity. The data were reviewed for patient demographics and characteristics, annual number of bariatric operations, and specific procedural types and proportion of laparoscopic cases. The US Census data were used to calculate the population-based annual rate of bariatric surgery per 100,000 adults. Results Between 2009 and 2012, the number of inpatient bariatric operations ranged between 81,005 and 114,780 cases annually. During this time period, the annual rate of bariatric procedures was highest for 2012 at 47.3 procedures per 100,000 adults. The bariatric surgery approach most commonly performed continues to be laparoscopic, ranging between 93.1 and 97.1 %. In 2012, there was a precipitous reduction in the number of gastric bypass and gastric banding operations and replaced by an increase in the number of sleeve gastrectomy operation. The in-hospital mortality rate remains low, ranging from 0.07 to 0.10 %. Conclusions In the USA, the annual volume of inpatient bariatric surgery continues to be stable. Utilization of the laparoscopic approach to bariatric surgery remains high, while the in-hospital mortality continues to be low at B0.10 % throughout the 4-year period.
Myelodysplastic Syndrome: Clinical Characteristics and Significance of Preclinically Detecting Biallelic Mutations in the TET2 Gene
Life, May 16, 2024
Extreme Tolerance of Extraocular Muscles to Diseases and Aging: Why and How?
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis
Cancers, Dec 22, 2023
Terapevticheskii arkhiv
Background. Inflammatory bowel diseases (IBD) are characterized by chronic immune inflammation of... more Background. Inflammatory bowel diseases (IBD) are characterized by chronic immune inflammation of the mucous membrane and/or the thickness of the intestinal wall, and are also accompanied by disorders of the blood clotting system and the development of a hypercoagulation state. Aim. To identify the frequency of thromboembolic complications (TEC) in IBD patients and to determine the influence of acquired and inherited hypercoagulation factors that contribute to the development of TEС. Materials and methods. The clinical status of 1,238 IBD patients who were treated in 2019 was evaluated. Of these, 748 patients with ulcerative colitis (UC) and 490 patients with Crohn's disease (CD). Among UC patients, there were 369 (49.3%) men and 379 (50.7%) women. In 10.1% of patients with UC, there were clinically significant feasibility studies. There were 227 (46.3%) men and 263 (53.7%) women among patients with CD; 7.3% of patients with CD had clinically significant feasibility studies. Res...
Ličnostʹ v menâûŝemsâ mire: zdorovʹe, adaptaciâ, razvitie, Jun 30, 2023
Том 11, № 2 (41), 2023 165 165 ВОСПРИЯТИЕ БОЛЕЗНИ ПАЦИЕНТАМИ С ВОСПАЛИТЕЛЬНЫМИ ЗАБОЛЕВАНИЯМИ КИШЕ... more Том 11, № 2 (41), 2023 165 165 ВОСПРИЯТИЕ БОЛЕЗНИ ПАЦИЕНТАМИ С ВОСПАЛИТЕЛЬНЫМИ ЗАБОЛЕВАНИЯМИ КИШЕЧНИКА THE ILLNESS PERCEPTION IN PATIENTS WITH INFLAMMATORY INTESTINAL DISEASES Аннотация: На течение и лечение различных заболеваний оказывают влияние такие психологические факторы как восприятие болезни и самоэффективность в преодолении болезни. В настоящее время у лиц молодого трудоспособного возраста отмечается увеличение распространенности воспалительных заболеваний кишечника (ВЗК). Наряду с этим, отмечается недостаточная осведомленность о восприятии пациентами с ВЗК своей болезни, что в свою очередь может снижать эффективность оказываемого лечения. В Клинических рекомендациях 2021 года, разработанных Российской гастроэнтерологической ассоциацией, упоминается не только м е д и к а м е н т о з н о е л е ч е н и е , н о и п с и х отерапевтическое воздействие. В связи с чем объясняется потребность в усовершенствовании ² Московский государственный медикостоматологический университет имени
Diagnostics, Aug 4, 2022
Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disea... more 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.
Personalized Medicine for IBD Patients
BioNanoScience, Jan 25, 2023
Current Issues in Molecular Biology
Gastric cancer is a major challenge in modern oncology due to its high detection rate and prevale... more Gastric cancer is a major challenge in modern oncology due to its high detection rate and prevalence. While sporadic cases make up the majority of gastric cancer, hereditary gastric cancer is caused by germline mutations in several genes linked to different syndromes. Thus, identifying hereditary forms of gastric cancer is considered crucial globally. A survey study using NGS-based analysis was conducted to determine the frequency of different types of hereditary gastric cancer in the yet-unstudied Kyrgyz population. The study cohort included 113 patients with diagnosed gastric cancer from Kyrgyzstan. The age of patients was 57.6 ± 8.9. Next-generation sequencing analysis of genomic DNA was performed using a custom Roche NimbleGen enrichment panel. The results showed that 6.2% (7/113) of the patients had pathogenic or likely pathogenic genetic variants. Additionally, 3.5% (4/113) of the patients carried heterozygous pathogenic/likely pathogenic variants in high penetrance genes, suc...
City Healthcare
Russia and other countries report an increase in the incidence of malignant neoplasms, and approx... more Russia and other countries report an increase in the incidence of malignant neoplasms, and approximately 10 % of all oncological cases have hereditary background. Molecular genetic testing in patients with diagnosed malignant neoplasms and a suspected hereditary factor will help to select effective modern methods of treatment and prevention of the development of neoplasms of other localizations. According to the study, 12,6 % of patients had hereditary cancer syndrome, which allowed to administer molecular genetic tests to patients’ relatives. Consequently, it becomes possible to detect hereditary cancer risk factors, improve the efficiency of clinical examination, elaborate and implement programs for prevention and early detection of the disease.
International Journal of Molecular Sciences
Helicobacter pylori is one of the most common cause of human infections. Infected patients develo... more Helicobacter pylori is one of the most common cause of human infections. Infected patients develop chronic active gastritis in all cases, which can lead to peptic ulcer, atrophic gastritis, gastric cancer and gastric MALT-lymphoma. The prevalence of H. pylori infection in the population has regional characteristics and can reach 80%. Constantly increasing antibiotic resistance of H. pylori is a major cause of treatment failure and a major problem. According to the VI Maastricht Consensus, two main strategies for choosing eradication therapy are recommended: individualized based on evaluating sensitivity to antibacterial drugs (phenotypic or molecular genetic method) prior to their appointment, and empirical, which takes into account data on local H. pylori resistance to clarithromycin and monitoring effectiveness schemes in the region. Therefore, the determination of H. pylori resistance to antibiotics, especially clarithromycin, prior to choosing therapeutic strategy is extremely i...
Psychological support for carriers of mutations in genes associated with hereditary breast cancer
Kačestvennaâ kliničeskaâ praktika, Apr 19, 2023
International Journal of Molecular Sciences
More than 275 million people in the world are carriers of a heterozygous mutation of the CFTR gen... more 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 patie...
Genetic Determinants of Autoimmune Gastritis
BioNanoScience
Personalized Medicine for IBD Patients
BioNanoScience
Medical news of the North Caucasus
Клинический научно-практический центр им. А. С. Логинова, москва, Российская Федерация 2 первый м... more Клинический научно-практический центр им. А. С. Логинова, москва, Российская Федерация 2 первый московский государственный медицинский университет им. И. м. Сеченова (Сеченовский Университет), Российская Федерация 3 Национальный медицинский исследовательский центр эндокринологии, москва, Российская Федерация 4 Центр стратегического планирования и управления медико-биологическими рисками здоровью, москва, Российская Федерация personaliZeD managemenT of paTienTs WiTh BRca1/2-associaTeD BreasT cancer: from Diagnosis To TreaTmenT Danishevich a. m. 1 , Zhukova l. g. 1 , Vorontsova m. V. 3 , lisitsa T. s. 4 , litvinova m. m. 1, 2 , Bodunova n. a. 1 , Khatkov i. e. 1 1 a. s. loginov clinical scientific practical center, moscow, russian federation 2 i. m. sechenov first moscow state medical university (sechenov university), russian federation 3 national medical research center for endocrinology, moscow, russian federation 4 center for strategic planning and management of Biomedical health risks, moscow, russian federation Рак молочной железы является одной из самых актуальных проблем мирового здравоохранения. Как известно, успех лечения опухолей молочной железы напрямую зависит от стадии, в которой новообразование было диагностировано. Учитывая быстрые темпы роста и агрессивный характер наследственных форм рака молочной железы, внедрение методов прецизионной медицины на базе онкологической клиники, а именно медикогенетического консультирования и ДНК-диагностики, становится все более востребованным. В представленном обзоре подробно описаны клинические особенности наследственного BRCA-ассоциированного рака молочной железы, основные этапы медикогенетического консультирования и возможности молекулярно-генетической диагностики, а также рассмотрены наиболее актуальные международные и российские клинические рекомендации по диагностике, лечению и профилактике развития злокачественных новообразований у данной группы пациентов. Breast cancer is one of the most pressing problems in healthcare worldwide. It is widely known that the success of breast tumors treatment directly depends on the stage at which the neoplasm was diagnosed. Given the rapid growth rates and aggressive nature of inherited breast cancer forms, the introduction of precision medicine methods on the basis of cancer clinics, namely medical genetic counseling and DNA diagnostics, is becoming more and more popular. This review describes in detail the clinical features of hereditary BRCA-associated breast cancer, the main stages of medical and genetic counseling and the possibilities of molecular genetic diagnosis, as well as the most relevant international and Russian national clinical recommendations for diagnosis, treatment and prevention of malignant neoplasms in this group of patients.
Biology
Background: Approximately 5–10% of all cancers are associated with hereditary cancer predispositi... more Background: Approximately 5–10% of all cancers are associated with hereditary cancer predisposition syndromes (HCPS). Early identification of HCPS is facilitated by widespread use of next-generation sequencing (NGS) and brings significant benefits to both the patient and their relatives. This study aims to evaluate the landscape of genetic variants in patients with personal and/or family history of cancer using NGS-based multigene panel testing. Materials and Methods: The study cohort included 1117 probands from Russia: 1060 (94.9%) patients with clinical signs of HCPS and 57 (5.1%) healthy individuals with family history of cancer. NGS analysis of 76 HCPS genes was performed using a custom Roche NimbleGen enrichment panel. Results: Pathogenic/likely pathogenic variants were identified in 378 of 1117 individuals (33.8%). The predominant number (59.8%) of genetic variants was identified in BRCA1/BRCA2 genes. CHEK2 was the second most commonly altered gene with a total of 28 (7.4%) va...
Malignant tumours
Cowden syndrome is a rare disease characterized by multiple hamartomas and increased breast, thyr... more Cowden syndrome is a rare disease characterized by multiple hamartomas and increased breast, thyroid, kidney and uterine neoplasm risk. The lifetime breast cancer risk for patients with Cowden syndrome is 85 %, with an average age of diagnosis between 38 and 46 years. The diagnostic criteria for Cowden syndrome have been established by the International Cowden Consortium (ICC) and the National Comprehensive Cancer Network (NCCN), and are regularly revised, but the diagnosis of Cowden syndrome remains difficult due to the variety of phenotypic and clinical features of the disease. At the same time, the genetic variants associated with Cowden syndrome analysis is not a standard for patients with breast cancer.Objective: To demonstrate the non‑BRCA hereditary breast cancer detection using whole genome sequencing on the Cowden syndrome clinical case example.Materials and methods: The article describes a clinical case of a 37‑year‑old female patient with breast cancer, normal intelligenc...
Terapevticheskii Arkhiv, Jan 19, 2022
Общая вариабельная иммунная недостаточность (ОВИН) -один из видов первичных иммунодефицитов. ОВИН... more Общая вариабельная иммунная недостаточность (ОВИН) -один из видов первичных иммунодефицитов. ОВИН характеризуется широкой гетерогенностью клинических проявлений. Часто в основе возникновения ОВИН лежит генная альтерация. В статье представлен клинический случай пациента N 45 лет, на протяжении жизни страдающего от частых инфекционных заболеваний и в связи с чем обратившегося к иммунологу и врачу-генетику. Выявлено снижение иммуноглобулинов (Ig) классов A, M и G. При медико-генетическом консультировании у больного заподозрили первичный иммунодефицит. Дальнейшее генетическое обследование пациента методом массового параллельного секвенирования выявило вероятно-патогенный вариант chr17:16948978G>GT (c.204dupA, p.Leu69ThrfsX12, rs72553875) в гене TNFRSF13B в гомозиготном состоянии. По данным мировой литературы, мутации гена TNFRSF13B приводят к развитию ОВИН и характеризуются у одних больных изолированным снижением IgA, у других -дефицитом IgA, IgM и IgG. Семейный анамнез пациента отягощен онкологическими заболеваниями и иммуновоспалительным заболеванием кишечника (эрозивно-язвенный колит). Известно, что один из братьев пациента умер в возрасте 3 нед от токсоплазмоза, а другой так же, как и пробанд, страдает частыми инфекционными заболеваниями. Таким образом, выявили генетическую причину возникновения ОВИН. Показано, что гомозиготное носительство варианта c.204dupA гена TNFRSF13B характеризуется снижением всех 3 классов Ig. Проведение медико-генетического консультирования и применение современных молекулярно-генетических методов диагностики являются важным компонентом ведения пациентов с проявлениями иммунодефицита и позволяют уточнить диагноз, установить молекулярную причину заболевания и провести профилактику в семье обратившегося.
Terapevticheskii arkhiv, 2021
Aim. Evaluation of the clinical characteristics in patients with COVID-19. Materials and methods.... more Aim. Evaluation of the clinical characteristics in patients with COVID-19. Materials and methods. The article presents clinical and instrumental data of 1169 patients included in a single-center mixed study. Patients were tested for COVID-19 using polymerase chain reaction, computed tomography (CT), and antibody screening. Clinical history data were collected. Results. In patients with confirmed COVID-19, lung damage and a positive test for antibodies were observed in 75.5 and 45.2% of cases, respectively. The most common symptoms of COVID-19 were: fever (73.2%), weakness, (72.7%) dry cough (62.8%) and shortness of breath (55.4%). Patients with CT-visualized lung lesions were more likely to have clinical symptoms and elevated levels of antibodies. Patients with chronic diseases of the endocrine system, circulatory system, and respiratory system had a more severe course of the disease (CT-14: 91.296.3%) than patients without chronic diseases (CT-14: 85,1%). Conclusion. We have compil...
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Papers by Natalia Bodunova