A case report of dopa-responsive dystonia in a young woman

Dopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy. © 2020 Pirogov Russian National Research Medical University. All rights reserved

Cyclops states in repulsive Kuramoto networks: the role of higher-order coupling

Repulsive oscillator networks can exhibit multiple cooperative rhythms, including chimera and cluster splay states. Yet, understanding which rhythm prevails remains challenging. Here, we address this fundamental question in the context of Kuramoto-Sakaguchi networks of identical rotators with higher-order coupling. Through analysis and numerics, we show that three-cluster splay states with two distinct coherent clusters and a solitary oscillator are the prevalent rhythms in networks with an odd number of units. We denote such tripod patterns cyclops states with the solitary oscillator reminiscent of the Cyclops's eye. As their mythological counterparts, the cyclops states are giants that dominate the system's phase space in weakly repulsive networks with first-order coupling. Astonishingly, the addition of the second or third harmonics to the Kuramoto coupling function makes the cyclops states global attractors practically across the full range of coupling's repulsion. At a more general level, our results suggest clues for finding dominant rhythms in repulsive physical and biological networks

DEVELOPMENT OF A PERSONNEL MOTIVATION SYSTEM FOR RATIONALIZATION ACTIVITIES AT AN INDUSTRIAL ENTERPRISE

The article presents a methodology for stimulating personnel to rationalization activities. The methodology is based on the Kanban lean manufacturing tool. This technique will moti-vate employees for rationalization work without spending a large amount of financial resources

Retinal damage in amyotrophic lateral sclerosis: underlying mechanisms

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease resulting in a gradual loss of motor neuron function. Although ophthalmic complaints are not presently considered a classic symptom of ALS, retinal changes such as thinning, axonal degeneration and inclusion bodies have been found in many patient

Polymorphism of SERF2, the gene encoding a heat-resistant obscure (Hero) protein with chaperone activity, is a novel link in ischemic stroke

Ischemic stroke (IS) is one of the most serious cardiovascular events associated with high risk of death or disability. The growing body of evidence highlights molecular chaperones as especially important players in the pathogenesis of the disease. Since six small proteins called “Hero” have been recently identified as a novel class of chaperones we aimed to evaluate whether SNP rs4644832 in SERF2 gene encoding the member of Hero-proteins, is associated with the risk of I

The study of different peripheral blood lymphocytes populations in patients with chronic dermatosis

The article presents data on the cells immunity in 221 dermatological patients (psoriasis, atopic dermatitis, lichen ruber planus, T-cell lymphoma, pemphigus vulgaris). The content of T-, B- and NK-lymphocytes in peripheral blood was examined. These data are needed for optimization of laboratory studies in patients depending on the nosology form of skin disease.В статье приведены данные о количественном содержании Т-, В- и NK-лимфоцитов периферической крови 221 больного хроническими дерматозами (псориазом, атопическим дерматитом, красным плоским лишаем, злокачественной Т-лимфомой кожи, вульгарной пузырчаткой). Выявлены как общие сдвиги в параметрах иммунной системы, присущие большинству пациентов указанных групп, так и особенности, характерные для определённых патологий. Полученные результаты будут способствовать оптимизации лабораторного обследования больных в зависимости от нозологической формы заболевания кожи

Assessment of gastrointestinal dysfunction in selection of an effective method of nutritional support in patients with acute pancreatitis.

Potential mortality in acute pancreatitis (AP) is 5%. Patients with AP represent II type of intestinal insufficiency, which occurs on the background of dyspeptic syndrome and increased intra-abdominal pressure (IAP). IAP is a differentiated indicator. With the increase of IAP more than 10 mmHg, intra-abdominal hypertension (IAH) arises. Increasing IAP to this level is considered as safe. Monitoring of IAP level allows to achieve better clinical results. Totally 47 patients with acute pancreatitis were examined. Depending on the function of the gastrointestinal tract and the selected type of starting nutritional support (NS), they were divided into 2 groups. The first group consisted of IAH patients of I degree and dyspeptic syndrome who underwent parenteral nutrition (PN) with 3-component compounds begun on the 2nd day of disease and after restoration of gastrointestinal tract function a late enteral feeding (LEF) was performed. In the second group, patients with AP were initially diagnosed with elevated IAP at a safe level and dyspeptic syndrome. They were prescribed early enteral nutrition (EEN) with specialized blends from the 2nd day of disease. In 2 days a significant reduction in pain syndrome with the persistence of dyspeptic syndrome and intestinal insufficiency (II) was recorded. In patients with intra-abdominal hypertension, total parenteral nutrition is the effective method of nutritional support, against which, after 5 days manifestations of dyspeptic syndrome and IAP indices decrease to a safe level. Therefore in-time detection of high level of intra-abdominal pressure in patients with acute pancreatitis can help to choose a more rational method of nutritional support

Endometrial morphology in women of reproductive age with PCOS

Background. Polycystic ovary syndrome is the most common endocrine disease in women, affecting various aspects of health. The results of several studies indicate an increased prevalence of hyperplasia or endometrial cancer in women with PCOS, but there are no clinical recommendations on the need for assessing the endometrial condition in PCOS and approaches to predictions. Aim: to determine the frequency and structure of endometrial pathology among reproductive-aged patients with PCOS. Materials and methods. In a cross-sectional survey, we examined 1200 women who are subject to annual preventive examination. The research period was May - December 2017. The diagnosis of PCOS was made according to the consensus criteria adopted in May 2003 in Rotterdam. Participants signed informed consent for the survey. Results. We found 102 women with a verified diagnosis of PCOS. 56 of them completed their participation in the study; the median age was 32.19 ± 5.67 years. All patients underwent a biopsy of the endometrium with immunohistochemical examination. Features of the structure of the endometrium: a normal endometrial characteristic in 24 women (42.9 %), chronic endometritis -18 specimens (58.1 %), abnormal hypoplastic endometrium - 6 (19.4 %), simple endometrial hyperplasia -1 (3.2 %) adenocarcinoma -1 (3.2 %), proliferative endometrium with disorders - 7(22.6 %). Conclusions. In the examined women with PCOS there was a high incidence of histologically confirmed endometrial pathology, in the structure of which chronic endometritis predominates. The foregoing necessitates new research and development of clinical protocols for the timely detection of endometrial pathology in PCOS