METHODS AND TECHNOLOGY FOR ASSESSMENT OF HUMAN CAPITAL OF A UNIVERSITY GRADUATE

Purpose: The article presents the author's approach to assessing the human capital of a graduate of a regional university. Emphasis is placed on the fact that the problem of assessing of human capital is especially acute for pedagogy, since the contribution of education to the formation of human capital is one of the determining factors, and the contribution of pedagogy to the study of the pedagogical aspects of this phenomenon is extremely small. Methodology: The authors propose a methodology and technology for assessing human capital. In particular, it was proposed to use an integrated approach to the assessment of human capital of a graduate of a regional university, the essence of which is to add the absolute values of indicators of individual components of capital, and then based on the data calculate the relative indicator of the quality of human capital. Result: The result of training and the main goal of improving the quality of training of specialists at a regional university will be to ensure the minimum deviation of the level of the human capital of the graduate achieved during the period of study at the university, from the level of human capital established by regulatory requirements

Цервикалгия: ревматологические аспекты

The paper presents the rheumatological aspects of the neck pain syndrome and the current view of the management and treatment of patients with cervicalgias.Представлены ревматологические аспекты синдрома боли в шее, а также современный взгляд на ведение и лечение пациентов с цервикалгиями

Efficiency of treatment of laryngopharyngeal reflux with proton pump inhibitors depending on the <i>CYP2C19</i> polymorphism

Introduction. A treatment for LFR for many years, the superiority of PPIs over placebos is still controversial. Of particular clinical importance is the metabolic rate of PPIs in hepatocytes using the cytochrome P450 system with the participation of the isoenzyme CYP2C19 and partially CYP3A4Аim. We set a goal to study the efficacy of omeprazole 20 mg in the treatment of LFR symptoms without esophageal syndrome in patients with gastroesophageal reflux (GERD), depending on the polymorphism of the CYP2C19 genotype.Мaterials and мethods. After the exclusion criteria, 100 people took part in the study, 94 people completed the study.Results. According to the results, 26.6% of patients in the study group (residents of the Moscow region) with LFR symptoms without esophageal syndrome belong to fast metabolizers of CYP2C19, 4.2% to ultrafast metabolizers, 52.1% to normal metabolizers, 16% to intermediate metabolizers and 1.1% to slow CYP2C19.Conclusions. In patients with a rapid metabolism, within 1 month after discontinuation of omeprazole, it is necessary to increase the amount of omeprazole 20 mg intake up to 2 times a day in the morning and in the evening and reduce the duration of treatment to 6 weeks

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage

Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G&gt;T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20—21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q

A Novel 3-Hydroxysteroid Dehydrogenase That Regulates Reproductive Development and Longevity

A multidisciplinary approach identifies novel biochemical activities involved in the synthesisof C. elegans bile acid-like steroids, which act as hormones that regulate sterol metabolism and longevity

Клинический случай поясно-конечностной мышечной дистрофии 2Q, ассоциированной с миастеническим синдромом и поражением легких

Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G&gt;T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20—21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q.Поясно-конечностная мышечная дистрофия 2Q является одной из наиболее редких форм плектинопатий и проявляется изолированным мышечным дистрофическим синдромом согласно двум ранее представленным в литературе описаниям. Пять существующих форм плектинопатий, в том числе поясно-конечностная мышечная дистрофия 2Q, обусловлены мутациями в гене PLEC, альтернативный сплайсинг которого определяет синтез 9 изоформ белка плектина (1, 1а, 1b, 1c, 1d, 1е, 1f,1g, 3), выполняющих цитолинкерную функцию в нейрональной, эпителиальной и мышечной тканях.В статье представлено описание семейного наблюдения 3 больных сибсов с поясно-конечностной мышечной дистрофией 2Q, обусловленного наличием новой гомозиготной мутации (NM_201378.3:c.58G&gt;T, NP_958780.1:p.Glu20Ter) в изоформе 1f гена PLEC, выявленной с помощью полноэкзомного секвенирования. Детально проанализированы клинические, электронейромиографические, визуализационные и патогистологические особенности поясно-конечностной мышечной дистрофии 2Q. Дебют клинических проявлений у всех описанных членов семьи наблюдался в раннем детском возрасте в виде умеренной слабости преимущественно мышц тазового пояса и проксимальных отделов ног с минимальным вовлечением мышц плечевого пояса. Отличительным аспектом является стагнация миодистрофического процесса до 20—21 года с последующим прогрессированием и развитием эпизодов дыхательной недостаточности, а также формированием ригидности шейного, грудного отдела позвоночника и умеренной контрактуры ахилловых сухожилий. Характерными являются выраженная атрофия mm. paravertebralis с формированием крыловидных лопаток и наличие гипертрофии m. gastrocnemius, m. quadriceps femoris, m. deltoideus и m. triceps brachii. Патогистологическое исследование m. vastus lateralis отражает наличие миодистрофического процесса без воспалительной инфильтрации, дезорганизацию цитоскелета мышечных волокон и утрату плектина. Описаны электрокардиографические признаки синдрома ранней реполяризации, очагового кардиосклероза и синусовой тахикардии. Впервые в литературе представлено сочетание пояс-но-конечностной мышечной дистрофии 2Q с поражением легких в виде неинфекционного бронхиолита, ателектазов и развитием миастенического синдрома, обусловливающими эпизоды дыхательной недостаточности и повлекшие смерть 2 описываемых сибсов в возрасте 29 и 31 года. Обсуждаемое патогенетическое значение 1f-изоформы плектина в развитии описанных синдромов позволяет расширить представление о редкой нозологии — поясно-конечностной мышечной дистрофии 2Q

Магнитно-резонансный паттерн изменений мышц тазового пояса и нижних конечностей у пациентов с дисферлинопатиями

Introduction. Dysferlinopathy is a phenotypically heterogeneous group of hereditary muscular dystrophies caused by mutations in the dysferlin gene (DYSF). Debut in adolescence, predominantly in physically developed patients, combined with the often subacute development of hypercreatine phosphatemia and edematous muscle changes in MRI often leads to diagnostic errors. Purpose of the study: to determine the most typical MRI pattern of muscle damage of the pelvic girdle and lower limb in patients with dysferlinopathy. Materials and methods. 40 people were examined, among which 20 patients with a clinical picture of dysferlinopathy with an equal ratio of Miyoshi phenotypes and LGMD and an average age of 35 (24; 44) years. Comprehensive clinical and instrumental examination included neurological, electroneuromyographic and molecular genetic studies (NGS). Magnetic resonance imaging of the muscles of the pelvic girdle and lower limb was performed in 20 patients and a control group equivalent in sex and age. Results. The use of semi-quantitative MRI indicators — relative signal intensity — D (D=T1 muscle (STIR) / T1 (STIR) subcutaneous fat layer) made it possible to formulate the characteristics of a common typical MRI pattern of muscle involvement in dysferlinopathy. An increase in the intensity of the relative signal D, T1 in the rear muscle group of the thighs and lower legs, indicating fatty infiltration was observed most frequently, while a decrease in D, STIR values was observed in the anterior and medial muscles of the thighs, reflecting the presence of edema of the previous fatty degeneration of these muscles. Conclusion. In addition to the general idea of muscle involvement in dysferlinopathy, it is advisable to consider the «early», «typical / completed» and «late» MRI patterns of dysferlinopathy that increase the effectiveness of the diagnosis of this disease. In the differential diagnosis of the Miyoshi phenotype from LGMD, one should focus on maintaining normal values of D, T1 from m. gluteus maximus and m. popliteus at all stages of the disease.Введение. Дисферлинопатии — это фенотипически гетерогенная группа наследственных мышечных дистрофий, обусловленных мутациями в гене дисферлина (DYSF). Дебют в подростковом возрасте преимущественно у физически развитых пациентов в сочетании с часто подострым повышением сывороточной креатинфосфокиназы и отечными изменениями мышц при магнитно-резонансной томографии (МРТ) часто приводит к диагностическим ошибкам. Цель исследования: определить наиболее типичный магнитно-резонансный (МР) паттерн поражения мышц тазового пояса и нижних конечностей у пациентов с дисферлинопатиями. Материалы и методы. Обследовано 40 человек, среди которых 20 пациентов с клинической картиной дисферлинопатий с равным соотношением фенотипов Миоши и поясно-конечностной мышечной дистрофией (ПКМД) и средним возрастом — 35 (24; 44) лет. Комплексное клинико-инструментальное обследование включало неврологическое, электронейромиографическое и молекулярно-генетическое исследование (NGS). Магнитно-резонансная томография мышц тазового пояса и нижних конечностей проведена 20 пациентам и эквивалентной по полу и возрасту контрольной группе. Результаты исследований. Использование полуколичественных МР-показателей — относительной интенсивности сигнала — D (D=Т1 мышцы (STIR) /Т1(STIR) подкожно-жирового слоя) позволило сформулировать характеристики общего типичного МР-паттерна вовлечения мышц при дисферлинопатиях. Наиболее часто отмечалось повышение интенсивности относительного сигнала D, Т1-ВИ в задней группе мышц бедер и голеней, свидетельствующее о жировой инфильтрации, тогда как снижение величин D, STIR наблюдалось в передних и медиальных мышцах бедер, что отражало наличие отека, предшествующего замещению жировой тканью данных мышц. Заключение. Кроме общего представления о вовлечении мышц при дисферлинопатиях, целесообразно рассматривать «ранний», «типичный/завершенный» и «поздний» МР-паттерны дисферлинопатий, повышающие эффективность диагностики данного заболевания. В дифференциальной диагностике фенотипа Миоши от ПКМД следует ориентироваться на сохранение нормальных величин D, Т1-ВИ от m. gluteus maximus и m. popliteus на всех стадиях заболевания

The typology and clinical features of depressions during a period of remission in paroxysmal schizophrenia

Depressions in patients with schizophrenia in remission are quite common; however, their genesis and clinical features have been insufficiently studied.Objective: to assess the clinical features of depressions occurring in patients with paroxysmal schizophrenia in remission.Patients and methods. 88 patients with nonpsychotic depression who were diagnosed with paroxysmal schizophrenia in drug remission were examined. A total of 200 depressive episodes were analyzed. The patients' status was assessed according to the diagnostic criteria in the ICD-10 Classification of Depressive Disorders. For quantitative evaluation, the investigators used psychometric scales, such as the Calgary Depression Schizophrenia Scale and the PANSS Negative Subscale.Results. There were two types of post-schizophrenic depressions: endogenous and reactive. Endogenous depressions are divided into postpsychotic depressions developing in remission and delayed depressive episodes; reactive depressions are divided into nosogenic and psychogenic.Endogenous depressions represent a stage of the schizophrenic process; reactive ones are a schizophrenic patient's depressive reaction to a stressful situation. The latter occur in patients with a less severe schizophrenic defect, a higher critical attitude toward illness, and a better social and labor adaptation. Endogenous depressions have averagely a longer duration and a greater severity and besides anxiety symptoms, they include asthenic and apathetic symptoms; reactive depressions comprise only anxious and dreary manifestations.Conclusion. Knowledge about the characteristics of depressions in schizophrenia will ensure their more accurate diagnosis and prescribe adequate therapy

CERVICALGIA: RHEUMATOLOGICAL ASPECTS

The paper presents the rheumatological aspects of the neck pain syndrome and the current view of the management and treatment of patients with cervicalgias