Degree Of Weakness Research Articles

Comparative clinical study on seldom segment with multiple segment intramedullary primary spinal cord tumors.

Several clinical studies were performed on multi-segment intramedullary primary spinal cord tumors. However, no clinical study focused on the relationship between different vertebral segments intramedullary tumors involvement and neurological functions, as well as prognosis of the patients. This prospective study was performed to compare clinical analysis on neurological functions and prognosis of the patients with intramedullary spinal cord primary tumors. A prospective cohort study was performed in a single medical center, Neurosurgical Department, Peking University Third Hospital. Between Jan. 1, 2010 and Dec. 30, 2015, 135 patients underwent microsurgery for intramedullary primary spinal cord tumors. The intramedullary tumor length occupying 3 or more vertebral body levels was considered as multiple segments intramedullary primary spinal cord tumor, and occupying one or two vertebral body levels considered as seldom segments. Preoperative and postoperative functions were assessed using IJOA (improved Japanese orthopaedic association) scoring system, and analyzed using the appropriate statistical tests. Among the 135 patients, 52 cases had seldom segments intramedullary primary spinal cord tumors, and 83 cases had multiple segments. In the seldom group, 32 (62%) patients presented with normal urine and stool function, 8 (15%) patients with severe dysfunction, 7 (14%) with slight dysfunction, and 5 (9%) with incontinence, and 30 (58%) patients demonstrated various degrees of limbs weakness. The preoperative IJOA scores of the patients were 16.9±2.4. The postoperative IJOA scores at the end of 3 months were 16.6±2.3. The current IJOA scores until the end of the follow-up were 17.5±4.4. In the multiple group, 37 (45%) patients presented with normal urine and stool functions, 26 (31%) patients with slight dysfunction, 11 (13%) with severe dysfunction, and 9 (11%) with incontinence, and 62 (75%) patients demonstrated various degrees of limbs weakness. The preoperative IJOA scores of the patients were 15.6±3.4. The postoperative IJOA scores at the end of 3 months were 15.5±3.8. The current IJOA scores until the end of the follow-up were 16.9±5.8. The difference of presenting urine and stool dysfunction (Z=-1.35, P=0.18) was not statistically significant between the different patient groups. However, the difference of presenting limbs weakness (Z=-2.06, P=0.04) was statistically significant between the two groups. Most patients with multiple segment intramedullary tumors suffered from various limbs weakness. The difference of the preoperative IJOA score (P=0.02) and the postoperative early IJOA score (P=0.004) of the patients was statistically significant between the seldom and multiple segments groups. Preoperative and early postoperative neurological function of the patients was better with seldom segments tumor than with multiple segments tumor. Most patients with multi-segment intramedullary tumors experienced various limbs weakness. However, the difference of long-term neurological function (P=0.12) between the seldom and multiple segments groups was not statistically significant. The neurological function of the patients with multiple segments intramedullary tumor was remarkably improved after physical therapy. Perioperative neurological function of the patients with seldom segments primary tumor was superior to that of the patients with multiple segments primary tumor, especially for limb strength. The neurological function of the patients with multiple segments intramedullary primary tumor was remarkably improved after physical therapy during long-term follow-up.

Cough, sniff and maximal static pressure patterns in spinal muscular atrophy

In spinal muscular atrophy (SMA), respiratory muscles are heterogeneously involved with a weakness of the intercostal muscles, possibly of the abdominal wall muscles, and a relatively spared diaphragm, resulting in cough impairment. An abnormal inspiratory cough phase pattern has been reported in SMA II and III. This short communication analyzed the esogastric pressures during voluntary cough in 49 SMA II and III patients. Four different patterns of coughing, reflecting an increasing degree of respiratory muscle weakness, were identified. The “mild weakness” profile was observed mainly in SMA III, while the “severe weakness” profile, which seems to correspond to the absence of abdominal muscle activity, was observed only in a few patients with SMA II. The cough profiles of 6 patients are presented together with their sniff and maximal static pressures measurements. Different esogastric pressure patterns were observed during these forceful maneuvers, suggesting variable involvement of the intercostal and abdominal muscles, and diaphragm during the evolution of SMA II and III.

Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: a pilot study focusing on muscle networks

BackgroundA proper rehabilitation program targeting gait is mandatory to maintain the quality of life of patients with Myotonic dystrophy type 1 (DM1). Assuming that gait and balance impairment simply depend on the degree of muscle weakness is potentially misleading. In fact, the involvement of the Central Nervous System (CNS) in DM1 pathophysiology calls into account the deterioration of muscle coordination in gait impairment. Our study aimed at demonstrating the presence and role of muscle connectivity deterioration in patients with DM1 by a CNS perspective by investigating signal synergies using a time-frequency spectral coherence and multivariate analyses on lower limb muscles while walking upright. Further, we sought at determining whether muscle networks were abnormal secondarily to the muscle impairment or primarily to CNS damage (as DM1 is a multi–system disorder also involving the CNS). In other words, muscle network deterioration may depend on a weakening in signal synergies (that express the neural drive to muscles deduced from surface electromyography data).MethodsSuch an innovative approach to estimate muscle networks and signal synergies was carried out in seven patients with DM1 and ten healthy controls (HC).ResultsPatients with DM1 showed a commingling of low and high frequencies among muscle at both within– and between–limbs level, a weak direct neural coupling concerning inter–limb coordination, a modest network segregation, high integrative network properties, and an impoverishment in the available signal synergies, as compared to HCs. These network abnormalities were independent from muscle weakness and myotonia.ConclusionsOur results suggest that gait impairment in patients with DM1 depends also on a muscle network deterioration that is secondary to signal synergy deterioration (related to CNS impairment). This suggests that muscle network deterioration may be a primary trait of DM1 rather than a maladaptive mechanism to muscle degeneration. This information may be useful concerning the implementation of proper rehabilitative strategies in patients with DM1. It will be indeed necessary not only addressing muscle weakness but also gait-related muscle connectivity to improve functional ambulation in such patients.

What is in the Myopathy Literature?

In this issue, an article describing a newly defined entity, myoglobinopathy, is covered. This autosomal-dominant, adult-onset, proximal-predominant myopathy may be associated with cardiac involvement and is due to a mutation in MB. The presence of sarcoplasmic bodies is distinctive in muscle biopsy specimens. Next, variability in phenotypes and genotypes in patients with RYR1 and TTN mutations is described. Several articles address respiratory dysfunction in myotonic dystrophy type 1, reporting that its severity is associated with the CTG-repeat size, age, and degree of muscle weakness. Several articles focus on muscle pain, including myalgias in mitochondrial disorders and the presence of inflammation in muscle biopsy specimens from patients with myalgias and abnormal electrodiagnostic testing. Finally, a form of 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy mimicking limb-girdle muscular dystrophy is highlighted.

171. Postoperative recovery of motor strength and patient-reported physical function following anterior cervical discectomy and fusion

BACKGROUND CONTEXT While anterior cervical discectomy and fusion (ACDF) reportedly decreases neurological deficits, pain frequency and pain intensity, the functional outcomes are less clearly elucidated in the spine literature. Though consistent improvements from baseline in upper extremity strength have been noted following ACDF, the timeline of these improvements needs further evaluation. This study identifies the motor strength recovery timeline and further elaborates on the association between clinically-appreciable motor and patient-reported physical function recovery following ACDF. METHODS Patients undergoing elective, primary ACDF were identified from a single academic institution between 01/01/2013 – 09/01/2018. PROMIS computer adaptive test (CAT) data was prospectively obtained and retrospectively analyzed. Inclusion criteria included ages >18 years-old, clinical diagnosis of cervical radiculopathy and/or myelopathy confirmed on radiographic imaging, the ability to read/write English and provide informed consent. Exclusion criteria included revision surgery, combined anterior/posterior surgery, tumor, trauma, or infectious diagnoses. All surgeries were performed by one of three fellowship-trained spine surgeons. Demographic and surgical data, including the degree of motor weakness, were obtained from the hospital chart. In order to grade the degree of weakness, points were given for each strength deficit (eg, +1 points for each 4/5 muscle group). The minor preoperative weakness group was defined as total strength deficit RESULTS A total of 107 patients were identified. Baseline PROMIS physical function (PF) T-scores showed a statistically significant difference based on level of preoperative motor weakness (p=0.01). O patients with minor preoperative weakness, 62.5% achieved full strength recovery 1.5 months postoperatively compared to 38.5% of those with major preoperative weakness. PF T-scores increased throughout the postoperative period regardless of the level of preoperative weakness. However, the timeline of these gains in physical functioning differed. The majority of physical function recovery for minor weakness patients occurred in the first 1.5 months postoperatively while the physical function recovery for major weakness patients occurred over the course of 3 months postoperatively. CONCLUSIONS Our results indicate that the severity of the preoperative motor weakness influences the rate and degree of recovery. We highlight important features of both postoperative motor and patient-reported physical function recovery. While both weakness groups improved with treatment, patients with major preoperative motor weakness demonstrated longer time for recovery, poorer improvement to full strength, and worse functional results. Spine providers may use these results to better counsel ACDF patients on the general milestones of strength and functional recovery in the postoperative period. FDA DEVICE/DRUG STATUS This abstract does not discuss or include any applicable devices or drugs.

Spread of Pigeon eimeriosis in the conditions of individual farms of the eastern region of Ukraine

Compliance with veterinary sanitary norms and rules for keeping pigeons does not completely solve the problem of eimeriosis due to the high reproductive ability of the parasite and the long (about a year) preservation of oocysts in the external environment. The aim of the work was to study the epizootic situation regarding the spread of pigeon eimeriosis in individual farms in the eastern region of Ukraine and to determine the species composition of pathogens. Feces of pigeons from individual farms of the eastern region of Ukraine (Kharkiv, Donetsk, Sumy and Poltava regions) served as material for research. 926 samples of pigeon feces were investigated by flotation methods. The species belonging of the causative agents of eimeriosis was determined by the results of own studies of oocyst morphologies and by data from L. P. Pellerdy tables (1974). As a result of studies, it was found that pigeon eimeriosis is widespread in individual farms in the eastern region of Ukraine (prevalence — 52.3%). The smallest eimeriosis invasion was detected in pigeons in Donetsk and Poltava regions, 46.9% and 47.2% respectively, in Kharkov region — 50.2%, and the largest in Sumy region — 65.9%. At the same time, a weak degree of invasion (1–10 oocysts in 1 g of feces) was recorded in 43–64%, medium (11–100 oocysts in 1 g of feces) — 26–45% and strong (> 100 oocysts in 1 g feces) — 10–12% of the number of invaded birds. In the eastern region of Ukraine, three species of Eimeria that cause eimeriosis of pigeons (Eimeria columbae, Eimeria columbarum, Eimeria labbeana) were identified, the ratio of which in the total number of oocysts ranged: Eimeria labbeana — 71.0–81.5%, Eimeria columbarum — 14.5–26.5%, Eimeria columbae — 2.5–4.0%

Utilizing ammonium persulfate assisted expansion to fabricate flexible expanded graphite films with excellent thermal conductivity by introducing wrinkles

Traditional expanded graphite (EG) films exhibit excellent electric and thermal conductivities, due to weak oxidation degree induced low defect density. However, the stiff sheet structure makes EG films very brittle, which greatly limits its applications in next generation flexible electric devices. To overcome this challenge, ammonium persulfate ((NH4)2S2O8) is employed as both expansion agent and weak oxidation agent. As a result, the weak oxidation can effectively reduce the surface energy mismatching between EG and water, making it possible for EG to be exfoliated in water by high-speed shearing combined with sonication. Most particularly, the expansion step introduces plenty of wrinkles into the EG sheets, which notably improve the flexibility of EG films. Besides, using raw graphite with large lateral size and less (NH4)2S2O8 can greatly improve the final overall performances. The prepared EG films exhibit good electric and thermal conductivities of 2977 S/cm, 854 W/mK, respectively. 33.1 dB EMI shielding property is obtained with the film thickness of only 10 μm. Moreover, 800 times direct bending can be overcome without any structure break. This facial large scale and environmentally friendly method endows the films with great potential applications in flexible electric devices.

Lexical and morpho-syntactic modification of student requests: An empirical contribution to the study of (im)politeness in French e-mail speech acts

Despite considerable attention to the politeness of French requests, to date, no study has been devoted to the lexical variation within one and the same politeness strategy. In an attempt to overcome this shortcoming, this paper addresses lexical and morphosyntactic modification in university students’ requests to lecturers. On the basis of a corpus of 150 French students’ request e-mails, it is observed, on the one hand, that a large majority of requests include lexical items that mitigate the face-threat entailed by the request speech act. This is somewhat surprising, as the context in which these requests are grounded entails a weak degree of threat to the negative face of the recipient lecturer. On the other hand, unlike the politeness marker please, the terms of address that characterize formal communication are not systematically present. The results of this corpus analysis demonstrate that, even though a limited number of request strategies are used by students, the wording of their e-mails contains some degree of lexical variation in their choice of verbs and their use of lexical items to modify their requests. I also propose a naturalistic method consisting in eliciting e-mail speech acts, which avoids the downsides of semi-controlled production tasks.

Dampak Penggunaan Media Sosial Terhadap Hasil Belajar Geografi Siswa

This study aims to: determine the intensity of social media usage on General High School students in Palopo City and find out the effect of social media usage on student geography learning outcomes. The variables in this study are the use of social media consisting of 4 indicators, namely 1) owned social media accounts, 2) intensity of accessing social media, 3) the use of social media, and 4) the impact of using social media. This type of research is quantitative descriptive. The population in this study were 2298 students and 10% of the samples were taken, 230 students. Sampling in this study using Simple random sampling technique. With. The results showed that 230 students taken in this study accessed social media in the highest frequency a day at> 5 hours a day, which was 61 students or 26.52% and from 6 schools studied only 3 schools where social media had an effect on learning outcomes the geography of students with a large influence of 10-15% with a weak degree of relationship, while the factors that cause social media to influence student learning outcomes come from internal and external factors of the students themselves. while the other 3 schools, where social media does not affect learning outcomes because they tend to use social media for the benefit of entertainment, friendship, online games, and others. Because the influence of the use of social media is weak and is only found in 3 schools, in this study Social Media has no effect on student geography learning outcomes.

A polynomial algorithm for computing the weak rupture degree of trees

Let G=(V,E) be a graph. The weak rupture degree of G is defined as rw(G)=max{ω(G−X)−|X|−me(G−X):ω(G−X)>1}, where the maximum is taken over all X, the subset of V(G), ω(G−X) is the number of components in G−X, and me(G−X) is the size (edge number) of a largest component in G−X. This is an important parameter to quantitatively describe the invulnerability of networks. In this paper, based on a study of relationship between network structure and the weak rupture degree, a polynomial algorithm for computing the weak rupture degree of trees is given.

Management of Guillain-Barré Syndrome

AbstractGuillain-Barré syndrome (GBS) is the most common, immune-mediated acute polyneuropathy characterized by variable degree of motor weakness, often presenting with quadriparesis. GBS with respiratory failure requiring endotracheal intubation with mechanical ventilation is common, affecting approximately 30% of patients. In addition, they present with sensory features, cranial nerve involvement, and autonomic disturbance. The majority of GBS patients have preceding respiratory tract infection or gastroenteritis. The diagnosis of GBS is based on clinical features supported by cerebrospinal fluid (CSF) examination and nerve conduction studies. Early course of the GBS requires meticulous monitoring and early initiation of immunotherapy. Plasma exchange (PE) and intravenous immunoglobulin (IVIg) are the proven therapies, and both have been shown to be equally effective. General supportive care is an important part of management of GBS. A multidisciplinary approach to prevent and manage potential complications in rapidly progressing GBS is important to reduce morbidity and mortality.

Comparison of Continuous Epidural Analgesia and Intravenous Patient-Controlled Analgesia with Opioids in Terms of Postoperative Pain and Their Complications in Mega-Prosthesis Total Knee Arthroplasty for Bone Cancers.

Total knee arthroplasty with mega-prosthesis in oncologic patients is a painful surgery and may be associated with nerve injury. Epidural analgesia (EA) with local anaesthetics (LA) is routinely used for pain relief in these patients. At our institute, we came across a high incidence of motor weakness in these patients compelling to shift to patient-controlled analgesia (PCA) with intravenous opioids. We retrospectively analysed our data to find the incidence and reasons for motor weakness and also to compare the efficacy of EA and PCA as analgesics. Over a period of 15months, 68 patients were operated; out of these, 41 were in EA and 27 in PCA. Demographic details, level of epidural placement, drug used, pain scores, degree of motor weakness, measures taken to relieve the motor weakness and the improvement in symptoms after treatment were recorded. In the IV PCA group, details of drug used, dose of bolus, pain and sedation scores were analysed. Groups were comparable demographically. Motor weaknesses were present in 9 (22%) and 0 patients in EA and IV PCA groups respectively (p = 0.009). Average and maximum pain scores were significantly higher on day 1 in the IV PCA group (p of 0.00 and 0.001 respectively). Maximum pain scores were also significantly higher in the IV PCA group on day 2 (p = 0.010). Two patients out of 27 in IV PCA were found drowsy. Motor weakness is known with EA but can be managed effectively using a lower concentration of LA or by stopping the infusion of LA.

Moderate-intensity aerobic exercise improves physical fitness in bethlem myopathy.

Bethlem myopathy is caused by dysfunctional collagen VI assembly, leading to varying degrees of hyperlaxity, contractures and muscle weakness. Previous studies demonstrate that cardiovascular training is safe and beneficial in patients with myopathies. However, exercise exacerbates the dystrophic phenotype in collagen VI-knockout mice. Six men with Bethlem myopathy were included (4 training; 2 controls). After training, 2 patients detrained. Patients performed 10 weeks of home-based, moderate-intensity exercise monitored by a pulse-watch. The primary outcome was change in peak oxygen uptake (VO2peak ). Secondary outcomes were performances in functional tests. VO2peak improved in the training group (16%, P = 0.017). Detraining led to regression of VO2peak toward baseline values (-8%; P = 0.03). No change was seen in the control group (-7%; P = 0.47). Performance in functional tests did not change significantly. Creatine kinase values were stable during the study. Moderate-intensity exercise seems to safely improve oxidative function in patients with Bethlem myopathy. Muscle Nerve 60: 183-188, 2019.

Modulation of the emission behavior and mechanofluorochromism by electron-donating moiety of D-π-A type quinoxaline derivatives

New donor-π-acceptor (D-π-A) type quinoxaline derivatives with carbazole (ECVQ), triphenylamine (TPVQ) and phenothiazine (EPVQ) moieties as electron-donating groups were synthesized by standard Knoevenagel condensation reactions with good yields. Their fluorescent emission spectra in both solution and the solid state and mechanofluorochromic behavior was compared and studied. The results indicated that these D-π-A type molecules showed unique intramolecular charge transfer (ICT) properties. The extent of the ICT of the three compounds increased with the sequence of ECVQ < TPVQ < EPVQ. It is interesting that TPVQ and EPVQ exhibited reversible mechanofluorochromism upon the treatment of grinding and fuming. TPVQ showed low emission color change (a spectral shift of 12 nm), and EPVQ revealed high contrast MFC with a large spectral change of 53 nm, which might be originated from bending configuration of EPVQ with phenothiazine group and efficient ICT progress. By sharp contrast, ECVQ did not exhibit MFC behavior. The reason was that the planar molecular conformation and weak ICT degree of ECVQ. This work demonstrated dynamic control of the fluorescent emission and mechanofluorochromic behavior by using different electron donating moieties of D-π-A type quinoxaline derivatives.

GEOECOLOGICAL DIAGNOSTICS OF THE REGIONS IN THE CENTRALBLACK SOIL REGION

Aim.The aim is geoecological diagnostics of regions of the Central Black Soil Region on the basis of which the areas with different degree of tension of a technogenic and medicoecological situation have been revealed. Material and methods of research. System, comparative-geographical, geoinformation, historical, statistical methods of research, as well as software packages MS Excel and Statistica have been used. The database has been formed in retrospect for the period 2006-2015. About 50 public health criteria and about 200 potential risk factors have been analyzed. 9 key (indicator) criteria have been selected.Results.The authors propose an algorithm to perform geoecological diagnostics of the large region. The correlations between integral estimation criteria of levels of technogenic loadings and parameters of public health have been calculated. The positive correlations of weak and medium degree indicate the presence of stable trends: the increase in the levels of technogenic loads on the environment of the regions is an unfavorable "response" on the part of the population (the growth of environmentally caused pathology and, first of all, malignant neoplasms, as well as congenital anomalies in children). It is established that among the regions of the Central Black Soil Region this pattern is more pronounced for the area of the Belgorod region, where the environmental situation is much more contrasting, and the level of technogenic impact in the urban agglomeration zone is higher than, for example, in the Voronezh region.Conclusion.In this scientific paper, the authors have solved the actual practice-oriented problem in the field of geoecological researches, namely, they have developed the method of geoecodiagnostics of a large region, which allows to quickly and reliably determine the degree of technogenic load on the area. The analysis of the obtained data allowed us to reveal the regularities of the formation of the geoecological situation in the area of the Central Black Soil Region, to formulate the main directions of environmental policy and to predict the dynamics of the geoecological situation development.

Body composition analysis in patients with myotonic dystrophy types 1 and 2.

To date, there are only several reports on body composition in myotonic dystrophy type 1 (DM1) and there are no data for myotonic dystrophy type 2 (DM2). The aim was to analyze body composition of patients with DM1 and DM2, and its association with socio-demographic and clinical features of the diseases. There were no statistical differences in sociodemographic features between 20 DM1 patients and 12 DM2 patients. Body composition was assessed by DEXA (dual-energy x-ray absorptiometry). A three-compartment model was used: bone mineral content (BMC), fat mass (FM), and lean tissue mass (LTM). Patients with DM1 and DM2 had similar total body mass (TBM), BMC, FM, and LTM. Patients with DM1 had higher trunk-limb fat index (TLFI) in comparison to DM2 patients which indicates visceral fat deposition in DM1 (1.16 ± 0.32 for DM1 vs. 0.87 ± 0.23 for DM2, p < 0.05). Right ribs bone mineral density was lower in DM2 group (0.68 ± 0.07g/cm2 vs. 0.61 ± 0.09g/cm2, p < 0.05). Higher percentage of FM in legs showed correlation with lower strength of the upper leg muscles in DM1 (ρ = - 0.47, p < 0.05). Higher muscle strength in DM2 patients was in correlation with higher bone mineral density (ρ = + 0.62, p < 0.05 for upper arm muscles, ρ = + 0.87, p < 0.01 for lower arm muscles, ρ = + 0.72, p < 0.05 for lower leg muscles). DM1 patients had visceral obesity, and percentage of FM correlated with a degree of muscle weakness in upper legs. In DM2 patients, degree of muscle weakness was in correlation with higher FM index and lower bone mineral density.

Volatility transmission in the Nigerian financial market

This paper examines the return and volatility spillovers in the Nigerian Financial market. We specifically analyse the spillovers in the capital market, money market and foreign exchange market utilizing monthly data for the period January 2002 to June 2017. The paper employs the Diebold and Yilmaz (DY hereafter) (2009, 2012) approach to compute the total spillover, directional spillover, and net spillover indexes. We also consider the rolling window analyses to capture the secular and cyclical movement in the financial markets over the period of consideration. The paper observes weak degree of interdependence as well as cross-market spillovers among the financial instruments.The stock market is the largest net receiver and sender of return spillovers to other markets, while the foreign exchange market is the net giver of volatility spillovers followed by the money market, and the stock market is the net recipient. In addition, return spillovers unveils slight trends and bursts while volatility spillovers show significant bursts but no trends. Concomitantly, the significant burst was attributed to the removal of currency peg in 2016 by the Central Bank of Nigeria. Our results are robust to the different VAR lag structure.

HYGIENIC ASSESSMENT OF HEMODYNAMIC PARAMETERS OF SCHOOLCHILDREN AND STUDENTS WITH DIFFERENT MOTOR ACTIVITY LEVEL

We studied the functional state of the cardiovascular system in 997 schoolchildren of Ufa and 597 students of the Bashkir State Medical University with different levels of physical activity. All subjects were divided into 3 groups depending on the level of physical activity: the first group (control) consisted of schoolchildren and students, which do not involve in sports outside the school and university programs, with the lowest physical activity compared with other groups; the second group included persons with an average level of physical activity, who in addition to physical education classes independently engage in physical culture: running, walking, outdoor games and daily morning exercises; the third group consisted of schoolchildren and students regularly engaged in sports clubs and sections, having the highest level of physical activity. The following hemodynamic parameters were calculated: systolic blood volume, minute blood volume, pulse pressure, fatigue coefficient, blood circulation efficiency ratio, Robinson index. The data obtained for each group were subjected to statistical analysis separately for males and females in the age aspect. We have established the positive influence of regular physical education and sports on the metabolic and energy processes in the heart, which in turn leads to an improvement in the main indicators of the cardiovascular system. Thus, among schoolchildren and students regularly engaged in physical culture and sports, significantly lower values of minute blood volume, blood circulation efficiency ratio, endurance coefficient, Robinson index and high values of systolic blood volume, pulse pressure were noted. The presence of reliable direct correlation of the weak degree of physical culture and sports with the majority of studied hemodynamic parameters was revealed.

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

BackgroundMuscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy.Case presentationA 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue.ConclusionWe reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant.

From order to randomness: Onset and evolution of the random-singlet state in bond-disordered BaCu2(Si1−xGex)2O7 spin-chain compounds

Heisenberg-type spin-chain materials have been extensively studied over the years, yet not much is known about their behavior in the presence of disorder. Starting from BaCu$_2$Si$_2$O$_7$, a typical spin-1/2 chain system, we investigate a series of compounds with different degrees of bond disorder, where the systematic replacement of Si with Ge results in a re-modulation of the Cu$^{2+}$ exchange interactions. By combining magnetometry measurements with nuclear magnetic resonance studies we follow the evolution of the disorder-related properties from the well-ordered BaCu$_2$Si$_2$O$_7$ to the maximally disordered BaCu$_2$SiGeO$_7$. Our data indicate that already a weak degree of disorder of only 5% Ge, apart from reducing the 3D magnetic ordering temperature $T_\mathrm{N}$ quite effectively, induces a qualitatively different state in the paramagnetic regime. At maximum disorder our data indicate that this state may be identified with the theoretically predicted random singlet (RS) state. With decreasing disorder the extension of the RS regime at temperatures above $T_\mathrm{N}$ is reduced, yet its influence is clearly manifest, particularly in the features of NMR relaxation data.