A new method of an organ-preserving operation for the management of the initial forms of rectal carcinoma and benign tumors of the distal parts of the rectum has been elaborated and successfully used ...at the Scientific Research Institute of Proctology. It consists in transanal resection of the rectum with creation of a recto-anal anastomosis. Transanal resection of the rectum was performed on 34 patients. Sixteen patients had giant or recurrent villous tumours of the distal part of the rectum 6 of which had undergone malignant degeneration. In a group of 34 patients 14 had the initial forms of carcinoma of the inferoampular part of the rectum, 2 had a deep cystic colitis, and the other 2 patients were operated on for neurilemoma and teratoma. Recurrences were not revealed in patients with benign diseases in follow-up periods of 2 to 8 years. Recurrent carcinoma of the rectum in the region of the anastomosis was found in 2 patients in follow-up periods of 25 to 37 months. They underwent extirpation of the rectum. The new method enables stable recovery to be achieved and saves the patients from crippling abdomino-anal resections and extirpation of the rectum in the management of benign new growths and initial forms of carcinoma of the distal parts of this organ.
From analysis of the surgical treatment of 36 patients with rectal leiomyoma the authors suggest and substantiate the indications for various types of operative interventions according to the size ...and location of the tumor. The late-term results of the treatment were studied in all patients who underwent surgery and a brief review of literature on the methods of diagnosis and surgical management of benign smooth-muscle tumors of the rectum is given.
We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: ...Diamond-Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the
gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15's locus with the capture of 82,662,932-84,816,747 bp interval, including the complete sequence of the
gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond-Blackfan anemia and Lynch syndrome in the world is one per 480 million people.
Retroelements (REs) occupy a significant part of all eukaryotic genomes including humans. The majority of retroelements in the human genome are inactive and unable to retrotranspose. Dozens of active ...copies are repressed in most normal tissues by various cellular mechanisms. These copies can become active in normal germline and brain tissues or in cancer, leading to new retroposition events. The consequences of such events and their role in normal cell functioning and carcinogenesis are not yet fully understood. If new insertions occur in a small portion of cells they can be found only with the use of specific methods based on RE enrichment and high-throughput sequencing. The downside of the high sensitivity of such methods is the presence of various artifacts imitating real insertions, which in many cases cannot be validated due to lack of the initial template DNA. For this reason, adequate assessment of rare (< 1%) subclonal cancer specific RE insertions is complicated.
Here we describe a new copy-capture technique which we implemented in a method called SeqURE for Sequencing Unknown of Retroposition Events that allows for efficient and reliable identification of new genomic RE insertions. The method is based on the capture of copies of target molecules (copy-capture), selective amplification and sequencing of genomic regions adjacent to active RE insertions from both sides. Importantly, the template genomic DNA remains intact and can be used for validation experiments. In addition, we applied a novel system for testing method sensitivity and precisely showed the ability of the developed method to reliably detect insertions present in 1 out of 100 cells and a substantial portion of insertions present in 1 out of 1000 cells. Using advantages of the method we showed the absence of somatic Alu insertions in colorectal cancer samples bearing tumor-specific L1HS insertions.
This study presents the first description and implementation of the copy-capture technique and provides the first methodological basis for the quantitative assessment of RE insertions present in a small portion of cells.
This manuscript summarizes consensus reached by the International Anorectal Physiology Working Group (IAPWG) for the performance, terminology used, and interpretation of anorectal function testing ...including anorectal manometry (focused on high-resolution manometry), the rectal sensory test, and the balloon expulsion test. Based on these measurements, a classification system for disorders of anorectal function is proposed. Aim to provide information about methods of diagnosis and new classification of functional anorectal disorders to a wide range of specialists general practitioners, therapists, gastroenterologists, coloproctologists all who face the manifestations of these diseases in everyday practice and determine the diagnostic and therapeutic algorithm. Current paper provides agreed statements of IAPWG Consensus and comments (in italics) of Russian experts on real-world practice, mainly on methodology of examination. These comments in no way intended to detract from the provisions agreed by the international group of experts. We hope that these comments will help to improve the quality of examination based on the systematization of local experience with the use of the methods discussed and the results obtained. Key recommendations: the International Anorectal Physiology Working Group protocol for the performance of anorectal function testing recommends a standardized sequence of maneuvers to test rectoanal reflexes, anal tone and contractility, rectoanal coordination, and rectal sensation. Major findings not seen in healthy controls defined by the classification are as follows: rectoanal areflexia, anal hypotension and hypocontractility, rectal hyposensitivity, and hypersensitivity. Minor and inconclusive findings that can be present in health and require additional information prior to diagnosis include anal hypertension and dyssynergia.
Introduction. More than 1 million new cases of rectal cancer (RC) are annually detected worldwide, and together with colon cancer this tumor is the 4th most frequent cause of cancer death.Objective: ...To analyze short-term prognosis of RC incidence for certain population subgroups in the Arkhangelsk region, Russia.Material and methods. The data on all primary RC cases in the Arkhangelsk region in the time period from 2000 to 2015 were selected. Crude (whole population) and age-standardized incidence rates were calculated depending on gender and place of residence (urban or rural). The ARIMA model (autoregressive integrated moving average) was chosen to analyze the variations of the time series and to estimate prognosis. To transform the series to a stationary form and to reduce dispersion, the first or second differences of their values and the natural logarithms were taken. The incidence values for the period 2016–2018 were predicted on stationary series of RC incidence from 2000 to 2015.Results. Crude and age-standardized RC incidence rates in Arkhangelsk region increased from 14.4 and 11.4 in 2000 to 23.5 and 15.1 per 100,000 in 2015. Age-standardized RC incidence rates for males, females, urban and rural populations increased from 14.8, 10.1, 9.3 and 15.1 to 20.3, 12.6, 12.3 and 20.4 per 100, 000, respectively. Actual values of incidence rates among all population, male/female and rural/urban population in 2015 were within the confidence interval of the prognosis. The constructed prognosis model assumes an increase in the RC incidence among all population groups, which may cause the detection of 279 new cases by 2018; i.e. 16 cases (6%) more than in 2015.Conclusion. The incidence rates of RC have been steadily increasing in all population groups, and the rate of growth depends only partly on the population ageing. The number of new patients is expected to increase by 6 % in 2018.
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