Georgiy V. Chitorelidze, Margarita V. Chashchina, Mamad-Bagir A. Bagirov, Svetlana S. Sadovnikova, Yuriy S. Berezovskiy, Aleksandr V. Papkov
{"title":"Effectiveness of Surgical Treatment of Patients with Respiratory Tuberculosis Complicated with Chronic Pleural Empyema Depending on Spread of Intrapleural Pathological Alterations","authors":"Georgiy V. Chitorelidze, Margarita V. Chashchina, Mamad-Bagir A. Bagirov, Svetlana S. Sadovnikova, Yuriy S. Berezovskiy, Aleksandr V. Papkov","doi":"10.17816/pavlovj109880","DOIUrl":"https://doi.org/10.17816/pavlovj109880","url":null,"abstract":"INTRODUCTION: Chronic tuberculous pleural empyema (CTPE) is a severe form of tuberculous lesion characterized by a purulent-destructive process in the residual pleural cavity, gross irreversible morphofunctional specific alterations in the pleura forming within three-five months after appearance of clinical signs of pleurisy. Patients with respiratory tuberculosis (RT) complicated with pleural empyema, are the most severe contingent of patients in tuberculosis (TB) hospitals.
 AIM: To study effectiveness of surgical treatment of patients with RT complicated with CTPE depending on spread of pathological alterations in the parietal pleura.
 MATERIALS AND METHODS: The study included 65 patients (43 men, 66.2%, aged 2361 years; 22 women, 33.8%, aged 2665 years) with RT complicated with CTPE, who underwent surgical treatment in the volume of pleurectomy with decortication of lung. Patients were divided to 3 groups depending on spread of pathological alterations in the parietal pleura: group 1 (n = 40, 61.5%) with spread of CTPE not exceeding the surface area of one anatomical wall of the pleural cavity; group 2 (n = 15, 23.1%) with CTPE involving 23 anatomical walls of the pleural cavity; group 3 (n = 10, 15.4%) with CTPE involving all anatomical walls of the pleural cavity.
 RESULTS: The effectiveness of complex treatment of patients with RT complicated with CTPE was 92.3% (n = 60). In the period from 2014 to 2021, the rate of postoperative complications after pleurectomy with decortication of lung including simultaneous resection, was 12.3%, mortality rate 0% and postoperative recurrences of empyema 7.7%. Despite adequate postoperative conservative treatment, the achievement of clinical effect and the absence of postoperative recurrences were directly proportional to the spread of intrapleural alterations. The destructive widespread forms of PT with multiple and wide-range drug resistance of mycobacterium tuberculosis are more common among the patients with subtotal and total forms of CTPE.
 CONCLUSION: The obtained results evidence a high effectiveness of surgical treatment of the given category of patients irrespective of spread of pathological alterations in the pleura and lung.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136013123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Viktor V. Fomin, Valeriy V. Royuk, Vladimir A. Reshetnikov, Ol’ga S. Volkova, Natan G. Korshever, Vasiliy V. Kozlov
{"title":"Analysis of In-Hospital Mortality of Patients with New Coronavirus Infection (COVID-19) of Clinical Centre of Sechenov University","authors":"Viktor V. Fomin, Valeriy V. Royuk, Vladimir A. Reshetnikov, Ol’ga S. Volkova, Natan G. Korshever, Vasiliy V. Kozlov","doi":"10.17816/pavlovj569334","DOIUrl":"https://doi.org/10.17816/pavlovj569334","url":null,"abstract":"INTRODUCTION: The epidemic of a new coronavirus infection (COVID-19) required a restructure of the entire healthcare system of the Russian Federation within a limited period of time. Here, the mortality of patients is the most important effective parameter that reflects successfulness of organization measures for improvement of the activity of medical institutions. The initial preparedness of the infrastructure permitted to rapidly deploy a hospital on the base of the Clinical Centre of Sechenov University for providing medical assistance to patients with COVID-19.
 AIM: To analyze the in-hospital mortality of patients with COVID-19 at the Clinical Center of Sechenov University.
 MATERIALS AND METHODS: The COVID-19 database (n = 19 230) of the Clinical Centre of Sechenov University for 20202022 was analyzed.
 RESULTS: The overall in-hospital mortality in COVID-19 hospitals of the Clinical Centre of Sechenov University was 8.5%, which is the lower level compared to the data of foreign studies (Italy, Spain, Great Britain, USA, Iran). The main predictors of mortality are: basic male gender, age (mainly 75 years); existence of malignant neoplasms, diseases of the nervous system, diseases of the cardiovascular system, diseases of the endocrine system in patients; diseases occurring in the course of hospital treatment artificial lung ventilation, past surgical interventions.
 CONCLUSION: The working experience of the Clinical Center of Sechenov University shows a possibility for quick salvation of organizational tasks facing the healthcare system in the period of COVID-19 pandemic, with the results characterized by low lethality of hospitalized patients.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136012969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vasiliy P. Gavrilyuk, Dmitriy A. Severinov, Anatoliy M. Ovcharenko
{"title":"Surgical Tactics in Perforations of Stomach and Small Intestine in Children (Literature Review)","authors":"Vasiliy P. Gavrilyuk, Dmitriy A. Severinov, Anatoliy M. Ovcharenko","doi":"10.17816/pavlovj111829","DOIUrl":"https://doi.org/10.17816/pavlovj111829","url":null,"abstract":"INTRODUCTION: Currently, the number of pediatric patients urgently hospitalized with different variants of gastrointestinal perforations complicated with peritonitis, remains high. In the given work, the variants of the surgical treatment depending on the location of the perforation defect (stomach, duodenum, small intestine) are presented, and the most common causes of such conditions encountered in clinical practice, are described (perforation of Meckels diverticulum, spontaneous perforation of small intestine and stomach in children with extremely low body mass, patients with EhlersDanlos syndrome).
 AIM: To determine the most relevant variants of surgical tactics in children with perforations of different parts of the gastrointestinal tract (in particular, stomach, small intestine) in conditions of peritonitis.
 MATERIALS AND METHODS: In the process of studying the literature, 142 scientific publications were analyzed on Google Academy, PubMed, eLIBRARY information resources, published from 2002 to 2022. With this, works describing intestinal perforation with the underlying necrotic enterocolitis, were excluded from the study, since this category of patients requires a separate discussion and description of approaches to treatment.
 CONCLUSION: According to the results of the analysis of scientific literature, variants of surgical tactics used in perforations of the gastric wall include (in the order from the most commonly used to the least common): laparotomy and suturing with excision of the edges of the defect; suturing in conditions of laparoscopy; atypical resection with the formation of a gastric tube on the probe; resection of stomach. In duodenal perforations, the following methods are used: rhomboid duodeno-duodenoanastomosis according to Kimura, intracorporeal suture with endovideosurgical access; laparotomy and suturing of the defect in extensive necrosis. In spontaneous perforation in the small intestine, resection of the part of the intestine is advisable anastomosis according to Santulli in combination with terminal ileostomy, simultaneous end-to-end anastomosis or application of intestinal stomas.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136013136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Egan L. Kalmykov, Igor’ A. Suchkov, Roman E. Kalinin, Rolf Dammrau
{"title":"Experience in Treatment of Patients with First Type Secondary Endoleaks","authors":"Egan L. Kalmykov, Igor’ A. Suchkov, Roman E. Kalinin, Rolf Dammrau","doi":"10.17816/pavlovj569332","DOIUrl":"https://doi.org/10.17816/pavlovj569332","url":null,"abstract":"INTRODUCTION: First type secondary endoleaks (EL) require quickest elimination, primarily using the endovascular methods. Despite the existence of a sufficiently large number of methods of their elimination, the results of treatment remain ambiguous.
 AIM: Analysis of our own experience of elimination of the first type ELs in patients after endoprosthetics of infrarenal abdominal aortic aneurysm.
 MATERIALS AND METHODS: The study is retrospective with prospective observation. All patients underwent computed tomography (CT) for identification of the type of EL and choosing a method of its elimination. The term first type secondary EL was understood as EL which developed in the long-term period after the primarily negative CT-angiography after endoprosthetic repair of the aorta.
 RESULTS: ELs of Ia type were diagnosed in 14 cases, in one case EL of Ib type was identified. On average, first type secondary ELs were identified in 34 months after the primary operation for endograft implantation. In 2 of 15 patients, EL were symptomatic. The elimination of the first type EL required an individualized approach in all cases. The main methods of elimination of the first type EL were: elongation using Jotec E-iliac (n = 1); coiling with implantation of Gore cuff and Chimney-stenting of the left renal artery (LRA; n = 2); implantation of Gore cuff (n = 4); reinforcement with Aptus EndoAnchors (n = 2); Cuff Gore implantation and LRA stenting by Chimney-technique (n = 1); implantation of Cuff Jotec and reinforcement with Aptus EndoAnchors (n = 1); aneurysmal sac coiling (n = 2); Gore cuff implantation with fixation with EndoAnchors and LRA stenting using Chimney-technique (n = 1). The technical success of EL elimination was 100% (in all cases, the success was confirmed by intraoperative angiography, as well as by CT angiography or ultrasound duplex scanning with contrast enhancement after surgery), there were no deaths. In the long-term period (from 6 to 60 months), re-interventions were performed in two cases, fatal outcome happened in one case, after a late open conversion for elimination of EL.
 CONCLUSION: In 13% of cases, first type ELs were symptomatic, and their elimination required individual approach with taking into account anatomical factors and the implanted graft. The medium-term results of the elimination of the first type EL are good, no fatal cases have been reported, and the number of reinterventions has reached 20%, which requires monitoring in the postoperative period.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136013434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anastasiya A. Korshikova, Kristina G. Pereverzeva, Sergey S. Yakushin
{"title":"Dynamics of Prescribing Antithrombotic Therapy to Patients with Atrial Fibrillation Hospitalized for Myocardial Infarction in 2016–2021","authors":"Anastasiya A. Korshikova, Kristina G. Pereverzeva, Sergey S. Yakushin","doi":"10.17816/pavlovj109417","DOIUrl":"https://doi.org/10.17816/pavlovj109417","url":null,"abstract":"INTRODUCTION: At present, the issue of optimal antithrombotic therapy (ATT) in patients with myocardial infarction (MI) and atrial fibrillation (AF) has not been finally resolved, it requires an individual approach and is of interest for study.
 AIM: To study the dynamics of prescribing ATT to patients with AF of non-valvular etiology hospitalized in cardiology hospital in 20162021 for MI.
 MATERIALS AND METHODS: The study included 599 patients with MI and AF: in 20162017 104 patients, in 20182019 256 patients, in 20202021 239 patients. The median and interquartile range of age of patients hospitalized in 20162017 were 70 (61.0; 78.0) years, in 20182019 71 (65.0; 79.3) years, in 20202021 72 (65.0; 80.0) years, p = 0.09.
 RESULTS: In 20162017, 76.9% of patients with MI and AF were prescribed double antiplatelet therapy (DAPT) from the first day of hospitalization; 16.3% of patients were prescribed therapy with oral anticoagulants (OACs), here, in 6.7% as part of triple ATT, in 8.7% as part of double ATT (OACs + antiplatelet agent), in 1.0% as monotherapy with OACs; in 3.8% monotherapy with an antiplatelet agent was prescribed; in 2.9% of cases ATT was not prescribed. In 20182019, DAPT was used in 37.9% of cases; therapy with OACs in 54.7% of cases: in 44.9% cases as part of triple ATT, in 9.8% as part of double therapy; in 7.4% of cases monotherapy with antiplatelet agent was prescribed. In 20202021, DAPT was prescribed in 15.9% of cases; therapy with OACs in 74.5%, of them in 59.8% triple АТТ, in 14.2% double АТТ; monotherapy with an antiplatelet agent - in 7.5%; in 1.7% АТТ was not prescribed.
 CONCLUSION: In the study, the frequency of prescription of triple ATT to patients with AF and MI in 20202021 increased 1.3 times as compared to 20182019, and 8.9 times as compared to 20162017 and made 59.8% (p 0.001 for all periods). The frequency of OAC also increased 1.3 times as compared to 20182019 and 4.6 times as compared to 20162017 and made 74.5% (p 0.001 for all periods). This dynamics of increase in the frequency of prescription of oral anticoagulants to patients with a combination of AF and MI should be considered a positive result of introduction of the Clinical recommendations in the treatment of cardiologic patients.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"76 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136012721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hypoxia-Like Effect of L-Arginine in Seminal Vesicle and Epididymis of Rats","authors":"Yuliya A. Marsyanova, Valentina I. Zvyagina","doi":"10.17816/pavlovj108589","DOIUrl":"https://doi.org/10.17816/pavlovj108589","url":null,"abstract":"INTRODUCTION: The effect of L-arginine on metabolic processes is mediated by nitric oxide (II), whose pool is regulated by several enzymes. In the literature, the mutual influence of oxygen deficit and NO production is described. Besides, both processes can be regulated by exogenous L-arginine.
 AIM: To evaluate participation of L-arginine in the development of adaptive response to chronic normobaric hypoxia of tissues of reproductive system of male rats and to study its influence on metabolic changes in normoxia.
 MATERIALS AND METHODS: The experiment was conducted on Wistar stock rats (males, n = 8) which were divided to the following groups: (1) animals receiving L-arginine injections of 500 mg/kg of body weight for 10 days; (2) animals of control group receiving 0.9% NaCl solution; (3) animals subjected to chronic normobaric hypoxia in a hermetic chamber, observed once a day for 14 days until the oxygen concentration in the air decreased by 10%; (4) animals of the control group observed in a ventilated chamber; (5) animals subjected to hypoxia and injections of L-arginine. The material for analysis was the mitochondria and mitochondria-free fraction of the cytoplasm of the seminal vesicles, of the head and tail of the epididymis. The parameters were evaluated photometrically using diagnostic and enzyme immunoassay kits.
 RESULTS: The animals receiving L-arginine showed increase in the amount of -subunit of hypoxia-induced factor in the cytoplasm of seminal vesicles by 132% (p = 0.01), in the tail of epididymis by 32% (p = 0.02) and reduction in mitochondria by 45% (p = 0.01) and 60% (p = 0,002), respectively, a decrease in succinate levels by 40% (p = 0.005) and 51% (p = 0.0009), an increase in the concentration of lactic acid in the cytoplasm by 194% (p = 0.03) and 253% (p = 0.018), a decrease in cytochrome oxidase activity from 0.96 [0.66; 1.69] RU/mg of protein to 0.27 [0.23; 0.32] (p = 0.0009) and from 1.04 [0.84; 1.33] to 0.26 [0.14; 0.37] (p = 0.003), relative to the control group. The observed changes are characteristic of the state of hypoxia and are explained by the cell switching over to glycolytic pathway of energy production, in contrast to mitochondrial pathway in normoxia. The combined effect of hypoxia and arginine partially enhanced each other's effects.
 CONCLUSION: L-arginine causes hypoxia-like state in cells through activating -subunit by hypoxia-induced factor, reducing cytochrome oxidase activity, increasing glycolysis, and also partially enhances the effects of chronic normobaric hypoxia.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136012722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Julia I. Medvedeva, R. Zorin, V. A. Zhadnov, Michael M. Lapkin
{"title":"Parameters of autonomic regulation in patients with focal frontal and temporal epilepsy","authors":"Julia I. Medvedeva, R. Zorin, V. A. Zhadnov, Michael M. Lapkin","doi":"10.23888/PAVLOVJ202129145-53","DOIUrl":"https://doi.org/10.23888/PAVLOVJ202129145-53","url":null,"abstract":"Aim. This study aimed to investigate the mechanisms of autonomic regulation and autonomic support in focal frontal and temporal lobe epilepsy. Materials and Methods . Thirty-six individuals were examined (19 men and 17 women; mean age 33.7±1.4 years) in the control group (without history of epileptic seizures) and 68 patients (32 men and 36 women, 34.1±1.5 years) with focal epilepsy (36 patients with frontal lobe epilepsy, of which 32 had temporal lobe epilepsy). Physiological parameters of heart rate variability and of skin sympathetic evoked potentials were evaluated. Results. Predomination of sympathetic influences in both groups of patients was found. According to the analysis of skin sympathetic evoked potentials, a high activity of the suprasegmental autonomic centers was determined in patients with epilepsy. Based on the results of the correlation analysis, the initial state in patients with temporal lobe epilepsy was characterized by greater intrasystemic tension that reflects the high level of physiological costs. The logit regression analysis model makes it possible to distribute patients with focal epilepsy into groups with different disease courses on the basis of the parameters of the autonomic support of the activity. Conclusion. In patients with focal epilepsy, predomination of sympathetic influences was observed, as well as greater activity of the suprasegmental centers of the autonomic regulation. Intrasystemic ratios of autonomic regulation parameters demonstrate an increase in the intrasystemic tension and a limitation of functional reserves in patients with temporal lobe epilepsy. A complex of parameters of autonomic support allows, based on the logit regression analysis, to distribute patients into groups with different courses of focal epilepsy.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"54 1","pages":"45-53"},"PeriodicalIF":0.0,"publicationDate":"2021-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91331603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Death from amniotic fluid embolism in early postpartum period: a case report","authors":"E. Protsenko, L. V. Kulida","doi":"10.23888/PAVLOVJ2021291125-129","DOIUrl":"https://doi.org/10.23888/PAVLOVJ2021291125-129","url":null,"abstract":"This paper presents the case of a 40-year-old woman who died from amniotic fluid embolism on the third day after operative delivery (IV) at 38 weeks of gestation. Histological examination was conducted using staining with hematoxylin and eosin and Schiff reagent. The basis for the postmortem diagnosis was the presence of solid and liquid components of amniotic fluid in the uterine and pulmonary vessels with the absence of morphological substrate of other critical obstetric states.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"10 1","pages":"125-129"},"PeriodicalIF":0.0,"publicationDate":"2021-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82626798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Grigorii I. Yakubovskii, Olga B. Serebriakova, A. G. Yakubovskaya, Nadezhda V. Ruban, A. A. Lyakhovets
{"title":"Clinical and Genetic Characteristics of Phenylketonuria in Ryazan Region","authors":"Grigorii I. Yakubovskii, Olga B. Serebriakova, A. G. Yakubovskaya, Nadezhda V. Ruban, A. A. Lyakhovets","doi":"10.23888/PAVLOVJ20212915-12","DOIUrl":"https://doi.org/10.23888/PAVLOVJ20212915-12","url":null,"abstract":"Aim. This investigation seeks to determine the incidence of phenylketonuria in the Ryazan region, assess the spectrum of mutations in the PAH gene (phenylalanine hydroxylase), investigate the interrelationship between the disease’s clinical course, the phenylalanine blood level, and the patient’s genotype. Materials and Methods. The incidence of phenylketonuria was studied based on the data of massive neonatal screening for the period from 2000 to 2019. Molecular genetic examination of mutations was conducted in 39 patients using the allele-specific multiplex ligation method. The interrelationship between the phenylalanine blood level on the fifth day of life and retest, the disease’s clinical course, and the patient’s genotype was assessed according to the medical record data of 33 patients under dispensary observation in a medico-genetic clinic. The patients were divided into two groups. The first group (n=21) had two «severe» mutations (residual activity of phenylalanine hydroxylase 10%). Results. The incidence of phenylketonuria in the Ryazan region was one in 5054 newborns, exceeding the Russian Federation’s average parameters. Eighteen mutations were discovered in the PAH gene. The most frequent was the R408W mutation (56.4% alleles). The second most frequent mutations were the IVS10-11G>A (6.4%) and P281L (5.1%). The R158Q and Y418C mutations occurred with a frequency of 4.1% and Е280К mutation of 2.7%. All the rest of the mutations occurred as single cases. Investigation of the interrelationship between the phenylalanine blood level, the disease’s clinical course, and the patient’s genotype revealed a reliably higher content of amino acid in the first group on retest (32.1±1.7 mg/% vs. 17.7±1.5 mg/% in the second group, р <0.001) and predomination of more severe forms of phenylketonuria (90.5% vs. 41.7%, respectively, р <0.001). Disorders in neuropsychic and speech development were present in 28.6% of patients in the first group but were absent in the second group. Conclusion. By conducting the study, the incidence of phenylketonuria was determined in the Ryazan region. The spectrum of mutations in the PAH gene was defined. The interrelationship between the disease’s clinical portrait, the phenylalanine blood level, and the patient’s PAH genotype was revealed.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"160 1","pages":"5-12"},"PeriodicalIF":0.0,"publicationDate":"2021-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83189015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marta Sofia Fernandes, Joana Martins, M. A. Campos, Cacilda Magalhães, Yuliana O. Eremina
{"title":"Acute myeloid leukemia in a chronic lymphocytic leukemia patient: diagnostic challenge (clinical case).","authors":"Marta Sofia Fernandes, Joana Martins, M. A. Campos, Cacilda Magalhães, Yuliana O. Eremina","doi":"10.23888/PAVLOVJ2021291130-133","DOIUrl":"https://doi.org/10.23888/PAVLOVJ2021291130-133","url":null,"abstract":"Chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML) coexistence in the same patient has been rarely reported, more frequently due to treatment with chemotherapeutic agents. Blood parameter changes in cancer patients may be interpreted as disease progression or iatrogenic effects related to aggressive treatment, leading to delayed diagnosis. In our article, we call attention to the possibility of AML development in CLL patients and its diagnostic challenge.","PeriodicalId":13184,"journal":{"name":"I.P.Pavlov Russian Medical Biological Herald","volume":"1 1","pages":"130-133"},"PeriodicalIF":0.0,"publicationDate":"2021-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89877398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}