{"title":"MATHEMATICAL MODEL FOR PREDICTING THE SEVERITY OF THE COURSE OF ACUTE PANCREATITIS","authors":"I. Kolosovych, M. Bystrytska, I. Hanol","doi":"10.32345/2664-4738.2.2023.05","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.05","url":null,"abstract":"Background. A feature of acute pancreatitis is the high risk of developing complications (occurring in 50% of patients), the mortality rate of which reaches 15%, and with a severe course varies within 40-70%. It has been proven that timely determination of the severity of the disease, selection of appropriate treatment tactics, early diagnosis of complications and their prevention significantly improve treatment results. \u0000Aim: to develop a modern mathematical model for predicting the severity of the course of acute pancreatitis, taking into account indicators of calcium-phosphorus metabolism, hemocoagulation factors and serological examination data for Helicobacter pylori. \u0000Materials and methods. The study was based on the results of an examination of 280 patients with acute pancreatitis, who were divided into two groups: the main group (n=187) – patients with a severe course and a comparison group (n=93) – patients with a mild and moderate course of the disease. To develop a mathematical model, the following indicators were analyzed and compared: duration of the disease before hospitalization, body mass index, number of leukocytes, C-reactive protein, blood glucose, procalcitonin, interleukin-6, immunoglobulin M to Helicobacter pylori, thrombin-antithrombin III complex, activity of tissue plasminogen activator, serum calcium, albumin corrected calcium, vitamin D. \u0000Results. Based on the obtained results, we developed a mathematical model for predicting the severity of the course of acute pancreatitis and revealed a correlation between the calculated scores (according to the mathematical model) and the APACHE II scale (severe course of 8 points and more). The step-by-step creation of a model by the method of multiple regression analysis with a gradual decrease in the number of indicators from 12 to 8 and to 6 allowed us to propose a mathematical model that has high accuracy for predicting the severe course of acute pancreatitis (R=0.82; R2=0.66; p< 0.0001). The obtained data demonstrate the dependence of the \"severe course\" factor on the content of vitamin D, immunoglobulin M to Helicobacter pylori and the activity of tissue plasminogen activator and substantiate the need for their early determination in patients with acute pancreatitis. Therefore, the developed mathematical model is highly informative and can be used in medical practice for early prediction of the severe course of acute pancreatitis. \u0000Conclusions. The dependence of the «severe course» factor in patients with acute pancreatitis on the content of vitamin D, immunoglobulin M to Helicobacter pylori and the activity of tissue plasminogen activator has been proven, and the need for their determination in the early period of the disease is substantiated. Using the method of multiple regression analysis, a mathematical model was developed that has high accuracy for predicting the severe course of acute pancreatitis (R=0.82; R2=0.66; p<0.0001).","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46926672","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":"SOME ASPECTS OF THE ETIOLOGY, PREVALENCE AND DIAGNOSIS OF THE TEMPOROMANDIBULAR JOINT DYSFUNCTION (A REVIEW)","authors":"L. Bezkorovaina, Z. Zhehulovych","doi":"10.32345/2664-4738.2.2023.15","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.15","url":null,"abstract":"Background.Temporomandibular joint diseases (TMJ) occupy a special place among dental diseases due to the complexity of the clinical picture which often depends on within the professional competence of doctors of various specialties - otolaryngologists, neurologists, psychiatrists, rheumatologists, diseases whose complicate diagnosis and treatment. Painful TMJ dysfunction is a common disease that leads the patient to the dentist. \u0000Aim: to analyze modern publications devoted to the problem of pain dysfunction of the temporomandibular joint in terms of causes and diagnostic methods related to practical dentistry. \u0000Materials and methods. An analysis of data obtained during an information search in the online databases \"PubMed\", \"SciELO\", \"Medcape\" and \"Science of Ukraine: access to knowledge\" and official web-sites of Ukrainian education and scientific institutions was carried out using the keywords \"pain dysfunction\", \"Costen's syndrome\", \"musculofascial syndrome\", \"temporomandibular joint\". \u0000Results. Today, TMJ dysfunction is an unsolved problem of practical dentistry which has a significant number of points of contact with other specialties. The pain and psycho-emotional component of this disease can be a significant problem for the patient and negatively affect his quality of life. The complex etio-pathogenesis of TMJ dysfunction and confusing classification of conditions leads to frequent assumptions of diagnostic and treatment mistakes of dentists and other specialists. Today, further development and improvement of diagnosis and treatment methods of patients with TMJ dysfunction, including the development and modification of diagnostic protocols and expanding indications for the use of modern highly informative diagnostic methods. Quite often the rehabilitation of such a patient requires a team approach and may last for years. \u0000Conclusion. The organization of diagnosis, treatment and follow-up of patients with painful TMJ dysfunction needs further improvement and research.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43119477","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}
N. Semenko, M. Frank, I. Kuchyn, K. Bielka, V. Spitsyn, Vasyl Parii, V. Lykhodii
{"title":"SAFETY OF REGIONAL ANESTHESIA IN UKRAINE SURVEY: ARE HOSPITALS READY FOR THE LOCAL ANESTHETIC SYSTEMIC TOXICITY (LAST)?","authors":"N. Semenko, M. Frank, I. Kuchyn, K. Bielka, V. Spitsyn, Vasyl Parii, V. Lykhodii","doi":"10.32345/2664-4738.2.2023.01","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.01","url":null,"abstract":"Background. A survey was conducted among anesthesiologists in 38 Ukrainian hospitals to evaluate the current incidence and treatment quality of the local anesthetic systemic toxicity (LAST). With the growing preference for regional anesthetic techniques, implementation of measures for timely detection and treatment of LAST is becoming a priority for many surgical hospitals. This study aims to provide primary country-wide epidemiological data to guide further safety improvement in Ukraine. \u0000It should be noted, that the survey was performed before the beginning of the full-scale Russian invasion of Ukraine. The resulting surge in the incidence of limb injury has resulted in an unprecedented scale of application of regional anesthesia, including out-of-hospital cases with very limited monitoring, which will no doubt generate great amount of new data on the subject. We hope that our current analysis may be used as a reference point for the future research on this subject. \u0000Material and methods. A link to the survey was distributed via e-mail to the members of the Association of Anesthesiologists of Ukraine. Data submission was anonymous. Statistical analysis was performed using Microsoft Excel. Descriptive statistics are provided. \u0000Results. Responses were submitted by 186 anesthesiologists from 38 Ukrainian cities. Among them, 65.9% practice in public hospitals, 25.4% - in private hospitals, 8.7% - in university hospitals. Majority of respondents (60.3%) reported performing over 100 regional anesthetic procedures per year. Peripheral nerve blocks were routinely performed in the hospitals of 76.9% of respondents. 42.4% are using peripheral nerve blocks or more times per week, 24.4% perform this amount monthly, 21.7% - yearly, with 11.5% not utilizing peripheral nerve blocks at all. \u0000Ultrasound guidance was commonly used by 64.1% of anesthesiologists, 60.3% reported relying on landmark techniques often and 38.5% are routinely using a neuromuscular electrical stimulator. \u0000LAST cases were previously encountered by 37.2% of respondents. However, only 37% have reported having a LAST protocol in their hospital and 42.3% did not have a lipid emulsion available. Regarding patient education, in 62.8% of cases the patients were specifically warned about the possible complications of regional anesthesia prior to procedures, where it was performed. When the local anesthetic related adverse events did occur, they were recorded in the patient’s card in 27.2% of cases; the chief of anesthesiology department was informed in 36.9%, while in 35.9% the event was not reported in any way. \u0000Conclusions. The practice of regional anesthesia is becoming more widespread in Ukraine, but the minimal measures required to provide patient safety during such procedures are still not being employed in many hospitals.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45844191","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":"LIPID PEROXIDATION AND ANTIOXIDANT PROTECTION SYSTEM IN RATS UNDER CONDITIONS OF ISCHEMIC STROKE ON THE BACKGROUND OF ANXIETY-DEPRESSIVE DISORDERS","authors":"Zh.H. Slobodyan, I. V. Savуtskyi","doi":"10.32345/2664-4738.2.2023.09","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.09","url":null,"abstract":"Background. Acute disorders of cerebral blood circulation are one of the most important medical and social problems, due to their high share in the structure of morbidity and mortality of the population, significant indicators of temporary loss of working capacity and primary disability. At the same time, the World Health Organization estimates that by 2021, 615 million people (about 10% of the world's population) will have symptoms of depressive or anxiety disorders. Therefore, the study of the pathogenetic links of comorbidity of anxiety-depressive disorders against the background of ischemic stroke is relevant. \u0000Aim: to study changes in antioxidant protection and lipid peroxidation under conditions of experimental ischemic stroke comorbid with anxiety-depressive disorders. \u0000Materials and methods. Experimental studies were conducted on 30 non-linear laboratory rats, which were divided into 3 groups: 1 group – intact control, 2 group – animals of the group with simulated ischemic stroke; Group 3 – rats with simulated ischemic stroke and anxiety-depressive disorders. Reproduction of ischemic stroke in rats was carried out using the model of endovascular occlusion of the middle cerebral artery (focal ischemia) according to E. Z. Longa. A model of reserpine-induced depression in rats was chosen for an in-depth study of the pathophysiological links of anxiety-depressive disorders. \u0000To assess the state of lipid peroxidation and the antioxidant defense system, the level of malondialdehyde, catalase, superoxide dismutase, and reduced glutathione in brain tissue homogenate and circulating blood was studied. \u0000Results. A sharp depletion of the body's protective reactions was established in rats with both ischemic stroke and under conditions of comorbid pathology, which was confirmed by a probable decrease in the level of catalase, superoxide dismutase and an increased level of malondialdehyde. In particular, the level of catalase and superoxide dismutase decreased in the brain tissue homogenate of rats with comorbid pathology; the level of malondialdehyde increased. At the circulating level, there was a 40-fold increase in the level of catalase (p<0.05) compared to intact animals, which indicated a compensatory reaction of the body to the activation of free-radical oxidation, since this enzyme neutralizes hydrogen peroxide. \u0000Conclusions. The obtained data indicate a more severe course of ischemic stroke against the background of anxiety-depressive disorders and the involvement of both pro- and anti-inflammatory cytokines in the development mechanism, as well as a violation of the balance between the processes of lipid peroxidation and antioxidant protection.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46242177","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":"THE WORK’S FEATURES OF MAXILLO-FACIAL SURGEONS OF KYIV AND REGION DURING THE MARTIAL LAW","authors":"R. Palyvoda, O. Kaniura, A. Kopchak","doi":"10.32345/2664-4738.2.2023.11","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.11","url":null,"abstract":"Background. Maxillofacial surgery, which took place in Ukraine as a separate legally recognized specialty, daily acquires its relevance. Treatment of inflammatory, oncological diseases, congenital malformations, defects and deformities of the face touches the person's face, which has not only medical and aesthetic, but also social significance in society. The question arises of the readiness of the personnel reserve for such a load and modern challenges. \u0000Aim: to analyze the peculiarities of the work of maxillofacial surgeons in Kyiv and the Kyiv region during wartime, and to identify the main problems they face in their work in connection with the existing realities and to determine ways to overcome them based on the data of an anonymous questionnaire.We have developed a questionnaire on the GoogleForm platform, concerning training and advanced training of specialists, theoretical and practical aspects of the treatment of gunshot and mine-explosive trauma, as well as receiving volunteer assistance to clinical hospitals. The study involved 39 doctors of the maxillofacial profile У дослідженні прийняли участь 39 maxillo-facial surgeons and trainee from Kyiv city and Kyiv region. \u0000Materials and methods. It was determined that doctors watched webinars (69,2%) or read specialized literature on the treatment of gunshot trauma (56,4%). for up-to-date professional information. Most (23.1%) of respondents experience a lack of qualifications when performing secondary reconstructive interventions and rehabilitation of patients with mine-explosive/gunshot. At the same time, 61.5% of doctors conducted online consultations with foreign colleagues, 48.7% - ensured the visit of foreign colleagues to their department. \u0000Conclusion. Definitely important point is the preparation of qualified human resources in the field of maxillo-facial surgery, a special condition for development is the communication of domestic specialists with international professional community.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47803529","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":"HEALTH TECHNOLOGY ASSESSMENT AS A TOOL FOR HEALTHCARE POLICY MAKING","authors":"Бабенко М.М. https","doi":"10.32345/2664-4738.2.2023.14","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.14","url":null,"abstract":"Background. The article briefly describes the genesis of the concept of health technology assessment, which emerged in the 60s of the XX century. This was due to the emergence of technologies that gave rise to social, ethical, legal and political problems. \u0000Aim:To highlight the role of health technology assessment (HTA) in providing evidence-based information for health policy making. \u0000Materials and methods. The object of the study was the information obtained from the relevant regulations and foreign and domestic literature sources describing the HTA process in terms of its impact on policy making. \u0000The basics of the HTA process and its purpose, which is to help develop safe and effective health care policies that focus on the needs of the patient and seek to achieve the best value for money, are established. \u0000Results. The list of factors that contribute to the use of HTA in health policy development, as well as the variety of models of real-world policy processes, is briefly reviewed. \u0000It is emphasized that the interaction between policy makers and researchers, as well as the role of each party in the HTA process, especially the application of the results, depends on the social model of society. The introduction of a scientific approach inevitably leads to increased openness and accountability of government decisions and actions. In such a society, social and economic reforms become more successful. \u0000Conclusion. It has been determined that the introduction of the HTA institute in Ukraine provides healthcare policy makers with a reliable resource for implementing healthcare reform.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45540389","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":"HYPERTROPHY OF THE LOWER CORNEA OF THE NOSE: COMPARISON OF SURGICAL TECHNIQUES BY ASSESSMENT OF POSTOPERATIVE COMPLICATIONS","authors":"Клініча Медицина, Удк, Гіпертрофія Нижньої, Рогівки Носа, Порівняння Хірургічних, Технік Шляху Оцінки, Післяопераційних Ускладнень","doi":"10.32345/2664-4738.2.2023.04","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.04","url":null,"abstract":"Background. Nasal congestion is one of the most commonly reported symptoms in clinical practice. The second most common cause of nasal congestion is hypertrophy of the lower concha, a pathology of the nose that often requires surgical treatment. The purpose of this study is to determine the most effective surgical method in patients with hypertrophy of the inferior turbinate. \u0000Materials and methods. The study was conducted from November 2019 to January 2023 at the Pediatric Otolaryngology Department of the Emilian Cotaga Republican Children's Clinical Hospital in Chisinau, Republic of Moldova. The study population included 205 patients who underwent surgery and were under observation in the hospital. Radiofrequency ablation was the method used in 73 patients, 68 patients were treated with microdebrider turbinoplasty, and the remaining 64 patients were treated with electrocautery. After surgery, postoperative complications were assessed and quantified. \u0000Results. A total of 205 patients were operated on. The first group (n=73) underwent radiofrequency ablation and had a complication rate of 30.1%. Out of 73 patients, 51 recovered without complications. The remaining 22 had complications, including 16 patients with bleeding and 6 with postnasal drip. The second group (n=68) was treated by the microdebrider method. The complication rate was 26.5%, with 50 patients having no postoperative symptoms and 18 having symptoms. In particular, postnasal drip was more common with this method, as all 18 patients experienced postnasal drip as a complication. The third group (n=64) received electrocautery. Patients in this group had the most complications (n=24), with 16 associated with postnasal drip and eight with infections that were treated promptly with oral antibiotics. The frequency of complications with this method was 37.5%. \u0000Conclusion. In our study, microdebrider turbinoplasty provided the lowest complication rate, followed by radiofrequency ablation and electrocautery. However, all three methods were successful in relieving nasal congestion and treating inferior turbinate hypertrophy. More research is needed, as there is still no consensus on the optimal surgical technique for inferior turbinate hypertrophy.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69516808","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":"RETROSPECTIVE ANALYSIS OF MEDICAL CHARTS OF PATIENTS WITH ANTIPHOSPHOLIPID SYNDROME","authors":"Савицький В.І. https","doi":"10.32345/2664-4738.2.2023.13","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.13","url":null,"abstract":"Background. Antiphospholipid attracts the attention of clinicians in various fields of medicine. This pathology is characterized by a triad of clinical and laboratory signs: recurrent venous or arterial thrombosis with localization in any part of the bloodstream, obstetric pathology in the form of primary premature pregnancy and intrauterine death of the fetus with hematological disorders (thrombocytopenia, hemolytic anemia). \u0000Aim: to conduct a retrospective analysis of medical records of patients with antiphospholipid syndrome. \u0000Materials and methods. A retrospective analysis of outpatient/inpatient medical records of 54 patients with the main diagnosis: antiphospholipid syndrome between 2016 and 2021, who were examined and treated in the rheumatology department of the Multidisciplinary Medical Center of Odesa National Medical University, was conducted. The diagnosis of antiphospholipid syndrome was established according to the recommendations of EULAR (2019), Order of the Ministry of Health of Ukraine dated October 8, 2007 No. 626 \"Clinical protocol for providing medical care to patients with Antiphospholipid Syndrome\" and Order of the Ministry of Health of Ukraine No. 22 dated January 20, 2015. \"Clinical protocol for providing medical care to patients with immune diseases.\" \u0000Results. In the general group of patients, the duration of this pathology at the time of the study ranged from 1 to 10 years. It was established that the number of appeals in connection with exacerbation of antiphospholipid syndrome depended on age and had probable differences. It was also noted that the total number of concomitant pathologies was correlated with the number of appeals regarding exacerbation of antiphospholipid syndrome. It was revealed that arthralgia and polyarthritis were most often detected in male patients aged 20-44 against the background of antiphospholipid syndrome, and skin manifestations in men aged 45-59. In women of the age group of 20-44 years, on the background of the diagnosed antiphospholipid syndrome, skin manifestations in the form of reticular liver, arthralgia and polyarthritis, as well as cardiovascular disorders, were most often noted. In women aged 45-59, arthralgia and polyarthritis and disorders of the cardiovascular system. \u0000 Using the method of collecting anamnestic data and the results of clinical laboratory examination, in accordance with current medical care protocols and diagnostic criteria for antiphospholipid syndrome, a retrospective analysis confirms the fact that antiphospholipid syndrome occurs 5 times more often in women than in men.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45315908","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}
S. H. Levandivska, M. Dushar, O. Tyshchenko, N. Huleyuk, E. Y. Patskun, H. Makukh
{"title":"INHERITED 15Q DUPLICATION IN THREE NOT RELATED UKRAINIAN FAMILIES","authors":"S. H. Levandivska, M. Dushar, O. Tyshchenko, N. Huleyuk, E. Y. Patskun, H. Makukh","doi":"10.32345/2664-4738.2.2023.08","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.08","url":null,"abstract":"Background. 15q duplication syndrome (Dup15q) is caused by the presence of an extra maternally derived copy of the Prader-Willi/Angelman critical region (PWACR) within chromosome 15q11.2-q13.1. The syndrome is clinically identifiable and characterized by intellectual disability, hypotonia, motor delays, autism spectrum disorder, epilepsy, and behavioral difficulties [1, 12]. The prevalence of Dup15q in the general population is unknown but may be as high as 1:5000 [10]. The syndrome most commonly occurs in one of two forms: an extra isodicentric 15 chromosome or an interstitial duplication [4]. Most reported cases concern de novo mutation. \u0000Aim. To highlight the importance of genetic testing in patients with neurodevelopmental disorders and emphasizes the need for further research to understand the underlying genetic mechanisms of Dup15q depending on the origin of the inherited duplication. \u0000Materials and methods. The study used next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and karyotype analysis to confirm the interstitial duplication. \u0000Results. We present the phenotype description and diagnostic prospects of three patients from different families who inherited interstitial 15q duplication from a phenotypically healthy mother. The patients exhibited symptoms consistent with Dup15q, including intellectual disability, delayed speech, difficulty understanding spoken language, hyperactivity, epilepsy and sleep disorders. \u0000Conclusion. The inherited interstitial duplication 15q is phenotypical presented only in case of maternal origin and vary in clinical presentation. We suggest as the first choice MLPA method as most cost and time effective in cases of Dup15q suspicion.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42876679","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":"ANALYSIS OF PROVIDED MEDICAL SERVICES IN THE MEDICAL GUARANTEES PROGRAM PACKAGE «CHEMOTHERAPY TREATMENT AND MAINTENANCE OF ADULTS AND CHILDREN WITH ONCOLOGICAL DISEASES IN OUTPATIENT AND INPATIENT SETTINGS»","authors":"Удк, Аналіз Наданих, Медичних Послуг, ЗА Пакетом","doi":"10.32345/2664-4738.2.2023.12","DOIUrl":"https://doi.org/10.32345/2664-4738.2.2023.12","url":null,"abstract":"Background. The approaches to the criteria for assigning a treated case/interaction to the \"Oncology\" package and the principles of their payment introduced in the National Health Service of Ukraine need to be optimized in order to prevent the risks of introducing inadequate rates, namely: not providing services for the amount specified in the rate and double/triple funding. \u0000Aim: to investigate and identify the main defects and gaps in the existing U-Grouper rules regarding the assignment of a treated case/interaction to a package in the field of \"Oncology\" and to develop recommendations for improving the existing U-Grouper rules in this field based on the findings. \u0000Materials and methods. A single descriptive-analytical study of the analysis of medical services provided in the oncology package 17 \"Chemotherapy treatment and maintenance of adults and children with oncological diseases in outpatient and inpatient settings\" for the first 8 months of 2022 in Ukraine was performed. Statistical methods, structural-logical analysis and systematic approach were used. \u0000Results. The study found certain gaps in the coding of diagnoses under the diagnostically related group \"R63 Chemotherapy\", one of which is the incorrect coding of the main diagnosis during chemotherapy treatment, as only 20% of all Electronic Medical Records (EMRs) had the main diagnosis coded according to the Australian coding system (code Z51.1). Incorrect coding of oncological diseases was also detected, which may contribute to an increase in the payment of the case. Thus, in just 8 months of 2022, 19,368 interactions were registered, of which 35.7% (6,923) were without additional diagnoses, i.e., payment was made for such EMRs without clear criteria for the presence of a malignant neoplasm, which contradicts the requirements of the 17th package. \u0000Conclusions. Based on the findings, it is proposed to make changes to the Medical Guarantees Program in the field of \"Oncology\" and to introduce automatic medical monitoring of EMRs, in which the main diagnosis of certain categories of classes C and D is coded, which will allow to bring the medical services provided to patients with oncohematological diseases into compliance with the rate.","PeriodicalId":52737,"journal":{"name":"Medichna nauka Ukrayini","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48401127","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}