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{"title":"Pontocerebellar Hypoplasia Type 2A","authors":"N. V. Chebanenko, V. Zykov, M. Mironov, L.Yu. Denisova, P. L. Sokolov, P. Romanov","doi":"10.31550/1727-2378-2022-21-7-68-74","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-7-68-74","url":null,"abstract":"Objective of the Paper: Show the importance of genetic diagnosis in children with movement disorders. Key points. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of autosomal recessive neurodegenerative diseases. They are characterized by a beginning in the prenatal period, a slowdown in the growth of the cerebellum, frontal and occipital cortex of the cerebral hemispheres, and microcephaly. The disease manifests itself from birth and is steadily progressing. PCH2A is the most part of the described variant of the disease. It is characterized by moderate respiratory disorders, swallowing disorders, dyskinesia at rest, choreic hyperkinesias, muscle spasticity, pharmacoresistant epilepsy and progressive microcephaly. To date, about 80–100 cases have been described. An own observation of a patient with pontocerebellar hypoplasia of type 2A is presented. The girl noted a slowly progressive violation of motor, speech and mental development of a severe degree of severity, epileptic seizures and extrapyramidal paroxysms. Conclusion. Timely genetic diagnosis in children with the phenotype of microcephaly and cerebral palsy allows reaching an etiological diagnosis, determining treatment tactics, rehabilitation prognosis and helps in the future to plan the birth of healthy children in the family. Keywords: pontocerebellar hypoplasia type 2A, TSEN54 gene, secondary paroxysmal dyskinesia, cerebral palsy, epilepsy, prognosis.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74590171","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":"Acute Gynaecological Conditions in Adolescents. Challenges with Differential Diagnosis (Case Reports)","authors":"V. Krutova, I. Aslanyan, A. Tulendinova, N. Naumova","doi":"10.31550/1727-2378-2022-21-1-46-53","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-1-46-53","url":null,"abstract":"Objective of the Paper: To demonstrate possible challenges with differential diagnosis of adenomyosis and abnormal uterus development in practical paediatric gynaecology. Key Points. We presented two cases of teenage girls with similar clinical symptoms in various diseases: nodular adenomyosis, which is rare for adolescents, and abnormal uterus development. Despite a full range of clinical and instrumental examinations (MRI, ultrasound examinations), it is only laparoscopy that allowed identifying the cause of pain. Conclusion. It is advisable to active use minimally invasive surgical procedures in paediatric inpatient units. Clinical recommendations and medical aid procedures for this urgent pathology are required to facilitate decision-making by medical professionals to apply endosurgical methods of therapy. Keywords: paediatric gynaecology, pain syndrome, differential diagnosis, adenomyosis, abnormal uterus development.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84459694","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":"Management of Patients with Musculoskeletal Pain Syndrome during COVID-19 Pandemic","authors":"P. Kamchatnov, A. V. Chugunov","doi":"10.31550/1727-2378-2022-21-4-36-42","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-4-36-42","url":null,"abstract":"Objective of the Review: To discuss the efficiency and safety of the use of nonsteroidal anti-inflammatory drugs (NSAIDs) in patients with low back pain (LBP), also during COVID-19 pandemic. Key Points. Musculoskeletal pain syndromes, including LBP, are common; they affect the quality of patients’ life and result in huge medical bills. In a lot of post-COVID-19 patients, LBP appears for the first time or gets worse. Challenges in the management of such patients are caused by involvement of multiple organs and body systems, the need in taking numerous medications at once, which increases the risk of drug interaction. This overview describes the efficiency and safety of nimesulide in patients with low back pain. The use of NSAIDs in patients with COVID-19 is discussed. Beneficial effects and possible risks of nimesulide are analysed. Conclusion. Management of patients with LBP during the COVID-19 pandemic requires thorough selection of an optimal therapy taking into account comorbidities and a high risk of drug-drug interactions. Nimesulide is a potent medication with a favourable safety and tolerability profile. It is advisable to use nimesulide in the management of patients with low back pain, including COVID-19 survivors. Safety of the therapy can be ensured by thorough drug selection taking into account comorbidities and risks of complications. Keywords: musculoskeletal pain syndromes, low back pain, COVID-19, post-COVID syndrome, nonsteroidal anti-inflammatory drugs, nimesulide, management, side effects.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78288857","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 the Results of Diagnosis and Treatment of Congenital Diaphragmatic Hernia of the Fetus According to the Perinatal Consultation","authors":"Y. Naberezhnev, N. Tetruashvili, A. Gus, A. Burov, M. G. Shneiderman, V. A. Klimov, R. Shmakov","doi":"10.31550/1727-2378-2022-21-5-31-37","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-5-31-37","url":null,"abstract":"Study Objective: Analysis of the detection of congenital diaphragmatic hernia (CDH) in the fetus at the antenatal stage and perinatal outcomes of newborns with CDH in the Russian Federation in a sample of women who applied to the perinatal consultation of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov. Study Design: Retrospective study. Materials and Methods. The study included 235 cases of CDH in fetuses and newborns were selected by the federal perinatal consultation of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov. The following were retrospectively analyzed: medical and social characteristics of pregnant women, results of ultrasound and MRI examination of fetuses, delivery features and perinatal outcomes. Study Results. The number of women with fetal CDH in the perinatal consultation of the Center continues to grow every year. In 3/4 of the treated patients, fetal CDH was detected in the 2nd trimester of pregnancy, which exceeds the European level of detection. But against this background, an extremely low level of invasive prenatal diagnosis was noted. Detection using ultrasound and MRI of liver infection in the chest, including a group with a prognosis of high neonatal survival of 2.2–4 times. The perinatal mortality rate with CDH in the Centers detection is 43.4%. The most common method of delivery is the natural birth. The optimal term of delivery with the least increase in postnatal loss should be considered the period of 38–39 weeks of pregnancy. Forecast of survival of newborns. At the same time, the Apgar score does not have statistical indicators of differences in surviving and deceased newborns, regardless of the method of delivery, which is associated with a violation of child development. Conclusion. The level of detection of CDH and perinatal mortality of newborns is similar to the data of foreign perinatal centers that provide assistance to mothers and their newborns. Increasing the survival rate of newborns with CDH is possible with the development and implementation of an integrated system for diagnosing the severity of CDH, as this will open up the possibility of a personalized approach to the treatment of CDH. Keywords: congenital diaphragmatic hernia, perinatal mortality, perinatal consultation, pulmonary hypoplasia, cardiac compression.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82345371","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":"Psychological and Behavioral Characteristics of Patients with Medication-Overuse Headache","authors":"A. E. Shagbazyan, E.A. Guziy, G. Tabeeva","doi":"10.31550/1727-2378-2022-21-4-6-12","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-4-6-12","url":null,"abstract":"Study Objective: To evaluate the characteristics of patients with medication-overuse headache (MOH) for their further treatment. Study Design: Prospective study. Materials and Methods. Within 12 months, 120 patients (12 men and 108 women, mean age of men — 46.3 ± 3.54 years, of women — 41.3 ± 9.5 years) with primary headache and MOH were followed up. Participants were divided into two groups depending on the diagnosis: group I (n = 44) — patients with chronic forms of primary headache without MOH, group II (n = 76) — patients with chronic forms of primary headache and MOH. The patients filled out special questionnaires for their characterization. Study Results. The study compared groups according to the frequency of taking various types of analgesic drugs. Patients with MOH took pain medications: non-steroidal anti-inflammatory drugs — 15 (19.7%), triptans — 38 (50%), combined drugs — 23 (30.3%); 46 patients chose analgesic drug/s based on the speed of effect, and the preferred characteristics of the drugs were the availability (n = 25) and complete relieve pain (n = 19). The most of participants chose pain medications based on a doctor's recommendation; 44 (57.9%) of MOH patients tried to cancel them on their own, but failed. In people with MOH, the most common behavioral strategies were: taking painkillers to prevent headaches due to fear of pain (34.2%); refusal to discontinue the drug due to fear of increased pain even in the presence of side effects (22.4%); frequent practice of escalating the amount and dose of symptomatic agents in conditions of catastrophic pain (21.1%). The characteristics of our patients and their emotional and behavioral features showed that a more detailed study of these characteristics and features is necessary to develop a further treatment plan. Conclusion. When treating patients with MOH show that a complex approach to a comprehensive analysis of the state of physical and emotional health is needed. The characteristics of our patients once again prove the importance of a dialogue between a doctor and a patient to improve the effectiveness of treatment. A significant role in preventive methods implemented through educational programs are important for improving the quality of their lives. Keywords: medication-overuse headache, chronic primary headache, migraine, tension type headache, behavioral characteristics of patients with chronic headache, educational programs in management of patients with headache.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88969958","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":"Differences in Modulation of Brain Responses to Emotional Stimuli in Men and Women with Bipolar Depression","authors":"E. Mnatsakanian, V. Kryukov, A.S. Zharkova, V. Krasnov","doi":"10.31550/1727-2378-2022-21-8-72-77","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-8-72-77","url":null,"abstract":"Study Objective: To investigate the prognostic and therapeutically significant characteristics in neurophysiological reactivity of male and female patients with bipolar depression. Study Design: comparative controlled non-randomized clinical experimental study. Materials and Methods. 53 patients (26 men and 27 women) with bipolar depression were examined before the start of their psychopharmacotherapy. They were aged from 21 to 59 years. There were no significant differences between men and women on the Hamilton Depression and Anxiety Scale. The groups of healthy volunteers included 23 men and 29 women of the corresponding age. The participants sorted the photos, 80 of which were images of angry/aggressive people or animals, and 80 had neutral expressions. Simple figures (keys) were displayed 2 seconds before the pictures, their connection with the photographs was not explained. A 128-channel electroencephalogram was recorded and the brain responses elicited by the keys were analyzed. Differences (p < 0.05) between neutral and emotional conditions were defined as emotional modulation (EM). Study Results. EM differences in male and female patients were more pronounced than in the control groups. In women with bipolar depression, EM was consistently located in the posterior areas of the cortex from 100 ms to the end of the analysis period. The EM for the P100 component was missing, and the EM topography for P200 was closer to normal than in men. The EM of components N170 and P380 in patients differed depending on their sex and differed from EM of healthy controls of the same sex. Conclusions. The EM of the brain activity in patients with bipolar depression differs from the EM of healthy people. The differences depend on the gender of the patient and affect several components of the evoked brain activity. This suggests that it is important to take into account the gender of the subjects when studying affective disorders in patients. Keywords: emotional modulation, high-density EEG, bipolar depression, implicit learning, facial expression, anger.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79100442","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":"Bacterial Vaginosis and Vulvovaginitis in Pregnant Women with Insuficiencia Istmicocervical. A Differentiated Approach to Drug Therapy","authors":"N. V. Spiridonova, M. A. Kaganova, O. Devyatova, A. A. Bezrukova","doi":"10.31550/1727-2378-2022-21-5-81-86","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-5-81-86","url":null,"abstract":"Objectivе of the Review: To study the modern methods of diagnosis and management of bacterial vaginosis (BV) and vulvovaginitis in pregnant women complicated with insuficiencia istmicocervical (IIC). Key points. BV in pregnant women is a topical issue for obstetrician professionals since it can cause a number of unfavourable outcomes (miscarriage, premature delivery, antenatal infections). In case of impaired vaginal microbiocenosis in pregnant women complicated with IIC, it is preferable to use clinical scales, in particular Amsel’s criteria, with the vaginal pH being the main indicator. However, for a more complete diagnosis of vaginal dysbiosis, modern PCR-based methods are recommended. The review describes modern classification of vaginal biocenosis disorders. We discuss characteristics of differential therapy of BV and anaerobic vulvovaginitis with pН 4.5+, and the possibility of using metronidazoles and clotrimazoles in pregnant women for vagina sanitation before IIC correction. Conclusion. One method for BV therapy in pregnant women is the use of a combined intravaginal product containing Metronidazole 50 mg, which is recommended both by international and Russian clinical protocols as a first line therapy, and Clotrimazole 100 mg, since BV in pregnant women is frequently associated with fungi, or they start proliferating very fast because of reduced vaginal pH during therapy, thus causing vulvovaginal candidiasis. This product can be recommended for the therapy of a mixed infection and in presence of pathological discharges in pregnant women in the second and third trimesters. Keywords: insuficiencia istmicocervical, bacterial vaginosis, vulvovaginitis, metronidazole, clotrimazole","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83398723","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 Characteristics of the Psychoemotional Aspect in Children and Adolescents (5–18 years old) with Migraine","authors":"P.V. Zhmyleva, N. Kovalchuk, G. Tabeeva","doi":"10.31550/1727-2378-2022-21-7-28-33","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-7-28-33","url":null,"abstract":"Study Objective: To identify the features of psychoemotional characteristics of children and adolescents with migraine. Study Design: Comparative study. Materials and methods. We have examined 160 patients: preschool children (5–6 years old), primary school-aged children (7–10 years old), secondary school-aged children (11–14 years old), and high school-aged children (15–18 years old). Patients with verified migraine (G43.0, 43.1, 43.3, 43.8 as per ICD-10) were included into study group (I , n = 80), patients without migraine comprised group (controls) II, n = 80). Questionnaires were used to find out complaints, collect medical and family history, history of early development of the child; children underwent standard neurological and somatic tests and a comprehensive clinical and laboratory examination Study Results. 80.0% of subjects who complained of headache said their headache was severe and either markedly (1/3 of cases), or significantly (2/3 of cases) affecting their daily life. Patients in group I more frequently had mild situational or neurotic depression vs. group II (18.7% vs. 13.5%) and situational or personal anxiety (28.8% vs. 11.4% and 33.8% vs. 11.4%, respectively). Conclusion. The specific features of the psychoemotional state of children and adults with migraine require psychological support, especially in depression and anxiety. Keywords: migraine, headache, psychoemotional state.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90091827","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":"Psychosomatic Status of Children and Adolescents During a Pandemic COVID-19","authors":"T. Potupchik, L. Evert, Y. Kostyuchenko, E. Vlasova, T. Fotekova","doi":"10.31550/1727-2378-2022-21-7-34-40","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-7-34-40","url":null,"abstract":"Objective of the Review: To provide information on the prevalence of COVID-19 coronavirus infection in children and young people, on the negative impact of the epidemic on children and adolescents, the long-term consequences of COVID-19, and the psychosomatic status of people who have had a coronavirus infection. Key points. The COVID-19 pandemic has caused an unprecedented multi-modal (medical, professional, economic and social) crisis affecting most countries of the world, has become a factor of psychosocial disadvantage. The conducted studies give an idea of the prevalence, structure and clinical manifestations of mental disorders, disorders of the somatic and emotional status in children and young people during the epidemic, and in those who have recovered from this infection — about the features of the course of the post-COVID period. Conclusion. It is necessary to conduct longitudinal studies of the psychosomatic status of COVID-19 convalescents in the child and youth population in order to develop methods for correcting and preventing mental health disorders in this contingent. Keywords: children, students, coronavirus infection, psychosomatic status, mental health.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75438044","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 Role of Platelets in the Formation of Immunological Tolerance in Recurrent Miscarriage","authors":"A. Zhukova, L. Vanko, L. Krechetova, O. V. Khoroshkeeva, N. Tetruashvili","doi":"10.31550/1727-2378-2022-21-5-47-52","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-5-47-52","url":null,"abstract":"Objective of the Review: Аnalysis of literature and summarizing of data on the participation of platelets in the formation of immunological tolerance during the physiological pregnancy and recurrent miscarriage. Key points. Platelet-derived soluble factors determine their involvement in the endocrine regulation of the placenta, initiate and maintain trophoblast invasion. Platelets are able to influence the balance of M1 and M2 macrophages, inhibit the cytotoxic potential of NK cells and the antigen-presenting ability of dendritic cells. The interaction of platelets with regulatory T cells initiates the recruitment of lymphocyte cells to the site of inflammation and their activation. It has been shown that the differentiation of immune cells and changes in their functional activity, aimed at creating conditions favorable for prolonging pregnancy, are largely determined by both platelet-derived soluble factors and the formation of platelet-leukocyte complexes. Conclusion. Platelets and products of their activation play an important role in creating the conditions necessary for the onset of pregnancy and its prolongation to full term. The functional state of platelets determines the success of placentation both directly (through the control of hemodynamic parameters in the placental vessels, increased invasiveness of the extracellular trophoblast, the effect on the endocrine background) and indirectly by modulating the functions of decidual immune cells, which determines their contribution in the implementation of idiopathic pregnancy loss. Keywords: platelets, platelet-leukocyte interaction, immunoregulation, recurrent abortion, pregnancy loss.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74970015","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}