bluuebunny/crossref_metadata_2025_split huggingface dataset:
Memory and attention deficit in chronic migraine
Authors: Latysheva N. V. , Filatova E. G. , Osipova D. V. 
Published: July 2018

Background. Memory and attention deficits are prevalent in the chronic pain population. There are multiple common mechanisms in chronic pain and cognitive impairment. However, the presence, prevalence and clinical burden of such impairment are frequently underestimated.Objective: to evaluate subjective and objective cognitive deficits in patients with chronic migraine (CM).Materials and methods. We recruited 53 subjects with CM and 22 genderand age-matched controls with low-frequency episodic migraine (a maximum of 4 headache days per month) aged 18–59. All patients filled in the HADS (Hospital Anxiety and Depression Scale) anxiety and depression scale and Pittsburg Sleep Quality Inventory (PSQI). Cognitive function was assessed with Montreal Cognitive Assessment (MoCA), Digital Symbol Substitution Test (DSST), Rey Auditory Verbal Learning Test (RAVLT) and the Perceived Deficits Questionnaire (PDQ-20).Results. 56 % of patients with CM complained of memory problems. Decreased cognitive function was also observed during self-assessment using the PDQ-20 questionnaire. Objectively, we found a significant decrease in 90-second DSST results and RAVLT total recall and learning rates. 44 % of subjects with CM scored lower than 26 points on MoCA. Most frequently we found impairments in attention (75 %), memory/delayed recall (50 %), language (50 %) and executive function (37 %). Depression and sleep quality correlated with only several parameters of cognitive tests.Conclusion. Subjective and objective cognitive deficits are prevalent in the CM population. Most often memory and attention are impaired. Cognitive complaints need to be carefully assessed, and treatment of such impairment may improve quality of life and decrease disability in CM.
Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene
Authors: Dadali E. L. , Nikitin S. S. , Konovalov F. A. , Akimova I. A. , Korostelev S. A. 
Published: July 2018

Background. Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of autosomal dominant SMA predominantly affects muscles of the lower extremities.The study objective is to describe clinical and genetic characteristics of Russia-living patients with SMA predominantly affecting muscles of the lower extremities caused by the DYNC1H1 gene mutation discovered by next-generation exome sequencing.Materials and methods. To diagnose the syndrome a complex of examination techniques was used: genealogical analysis, neurological examination, electromyography, and DNA diagnostics. Changes in the nucleotide sequence in the probands and their parents identified with massive parallel sequencing were studied using direct automatic sequencing with oligonucleotide primers.Results. Five (5) patients from 4 families with heterozygous mutations in the DYNC1H1 gene were identified. In the patients, one type of SMA predominantly affecting the lower extremities was assumed. Prior to exome sequencing, all patients were monitored for myelodysplasia diagnosis, and magnetic resonance imaging of the spine has showed protrusions and/or spondylolisthesis of the lumbar spine in 4 of the patients. The obtained results can demonstrate both hyperdiagnosis and that spinal pathology is one of the characteristic symptoms of SMA predominantly affecting the lower extremities.Conclusion. The obtained results allow to make an assumption about a wide range of clinical polymorphisms in patients with mutations of the DYNC1H1 gene. Apart from typical clinical manifestations of SMA predominantly affecting the lower extremities, patients can be diagnosed with hereditary motor and sensory neuropathy 2, myelodysplasia, and congenital arthrogryposis which has to be taken into account during diagnostic search.
Prospective clinical and sonographic observation of the patient with hourglass-like focal radial nerve constriction
Authors: Druzhinin D. S. , Naumova E. S. , Nikitin S. S. 
Published: July 2018

This prospective clinical and sonographic observation of the 29 y.o. woman with acute neuropathic pain along the course of the radial nerve, who was later diagnosed with hourglass-like focal radial nerve constriction at the level of the inner fold of the elbow. Dynamic observation was carried out at the level of the most severe pain (at the inner fold of the elbow), starting from the 3rd day after onset of symptoms and within 15 months. At the time of patient’s admission pain syndrome and paresis of extensor muscles of the hand and fingers were significantly pronounced, but we didn’t detect any sonographic changes of the radial nerve. During dynamic observation the segment of focal peripheral nerve constriction has been detected on the 30th day of observation and the portion of multisegmental constriction on the 57th day of observation, but the observed changes did not correlate with the rate of neurologic deficit restoration. On the scans of the radial nerve obtained 9 and 15 months after disease onset the uniform decrease in the nerve diameter was evident, which made it impossible to visualize focal peripheral nerve constriction.
A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy
Authors: Kurbatov S. A. , Milovidova T. B. , Fedotov V. P. , Murtazina A. F. , Rudenskaya G. E. , Shchagina O. A. , Polyakov A. V. 
Published: July 2018

Background. Hereditary motor and sensory neuropathies (HMSN) are a genetically diverse group of disorders of the peripheral nerves characterized by gradual development of weakness, muscular hypo-/atrophy, sensory disturbances in distal areas of the extremities. Currently among the recessive forms, the most prevalent HMSN is associated with the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene (GDAP1-HMSN).The objective is to present an observation of a family case of HMSN type IVA with unusual genealogy.Materials and methods. Clinical, electrophysiological, and genetic characteristics of a Russian family with GDAP1-HMSN were examined.Results. We describe a family with autosomal recessive HMSN and unusual genealogy due to homozygous and compound heterozygous mutations of GDAP1.Conclusion. The particularity of the described family case is the unusual genealogy with the patients in two non-consecutive generations. This type of inheritance is caused by presence of mutations in compound heterozygous state in the proband's grandson which was confirmed by genetic analysis. The presented case demonstrates the importance and necessity of full analysis of the GDAP1 gene or identification of 2 mutations in trans-position in the proband and subsequent assessment of possible risks for future generations. Multiple stroke-like episodes in the 2 affected members of the family are described that have not been previously reported for GDAP1-HMSN. Stroke has been presented in HMSN associated with mitofusin-2 gene which also as GDAP1, affects mitochondrial function in the neurons.
Children juries in Dagestan
Authors: Daudova Rabiat D. , Bogatyreva Elena M. 
Published: July 2018

The aim of this work is to study the peculiarities of children’s injuries in Dagestan.
Methods. We analyzed the data of the State institution of the Republic of Dagestan Republican Medical Information and Analytical Center and the data of statistical reports of the Department of traumatology of the Republican Children’s clinical hospital named after N.M. Kuraev of the Makhachkala city. Various aspects of child’s injuries had been studied within the 2012-2015 years, taking into account the cause, age, sex, type of injury.
Results. The injury frequency takes up the 3rd place in the structure of Dagestan population’ mortality. The numbers of injuries increase as the age of children increase. The greatest number of injuries are among teenage age children that makes 47.7% from the total number of children who applied to the Department of traumatology. Street injuries are prevalent in summer, and it is 67% of all types of injuries at this time of year. The pattern of domestic injuries in Dagestan is not evenly distributed across the time of year. Most injuries occur in winter – 31% and in spring – 28%. Boys are twice as likely to be involved in accidents (68%) as girls (32%). The data obtained allow us to work out recommendations for the prevention of child’s injuries in Dagestan.
Conclusions. The predominant types of child’s injuries in Dagestan are street and household. Bruises and fractures, as well as wounds sharp, piercing, cutting objects are in the first place among children’s injuries.
Clinical and economic efficiency of treatment in patients with tuberculosis in conditions of day hospital
Authors: Shurygin A. A. , Makarova E. A. , Matasova E. V. 
Published: July 2018

Aim. To study the clinical and economic efficiency of treatment in patients with tuberculosis in conditions of day hospital when compared with treatment of patients in conditions of 24-hour hospital.
Materials and methods. The results of treatment of patients with first-ever lung tuberculosis in conditions of day hospital were analyzed.
Results. 76.7 % of patients, by the moment of discharge from the hospital, successfully completed the course of treatment.
Conclusions. Clinical efficiency of treatment in the day hospital did not differ from specialized indices of antituberculous work that confirms its significant economic efficiency.
Analysis of activity of prenatal diagnosis service in Perm krai
Authors: Olina A. A. , Sadykova G. K. , Shirinkina E. V. 
Published: July 2018

Aim. To analyze the work of prenatal diagnosis im Perm and Perm Krai for the period of 2012–2016.
Materials and methods. Statistical forms 32 for Perm and Perm Krai (PK) over the period of 2012–2016 were analyzed.
Results. During 2012–2016, in Perm Krai there was observed decrease in the absolute number of women with completed pregnancy by 6.3 %, whereas in the city of Perm this index raised by 1.8 %. Positive dynamics concerning complex screening coverage during the first trimester was detected. Calculation of index from the number of women with completed pregnancy in Perm Krai demonstrated a basic rate of growth 63.6 %, in Perm – 77.2 %. The analyzed absolute and relative indices showed increase in the number of the revealed CM in Perm Krai and Perm by 80 %.
Conclusions. Centralization of prenatal diagnosis in Perm and Perm Krai permitted to improve preventive measures for detecting congenital malformations in the early terms of pregnancy.
EVALUATION OF THE REGIONAL EFFECTS FROM REALIZATION OF INVESTMENT PROJECTS IN THE CIRCUMPOLAR ZONE
Authors: Arkhipova K. N. 
Published: July 2018

Purpose: the aim of the thesis – analyze the development of the oil and gas sector of the Yamal-Nenets Autonomous District and assess the influence exerted by them on the socio-economic and environmental dynamics of the region.Methods:the methodological foundations of the research are based on modeling scenarios, analysis of open statistical sources, projected estimates and calculations, projected methods. As open statistical sources were used the data of the official statistics, analytical materials of international organizations, federal and regional authorities.Results:the main result of the research is the author's methodology for assessing regional effects arising from the implementation of investment projects. Based on the created methodology, regional effects resulting from the implementation of investment projects in the Yamal-Nenets Autonomous District were identified, according to the analysis of which developed recommendations to strengthen their localization in the region.Conclusions and Relevance:during the analyzed period the carried out calculations of regional effects showed that the positive direct effects emerge in the economic sector only while indirect ones are too weak in the Yamal-Nenets Autonomous District. In these conditions, the regional authorities face the problem to strengthen the localization of direct and indirect effects in the region, because the investment projects can be a locomotive for the development of the region’s prosperity.
Incidence and clinico-immunological assessment of patients of rheumatoid arthritis in Gorakhpur district, Uttar Pradesh, India
Authors: Vishwakarma Pawan Kumar , Saroj Umesh 
Published: July 2018

Background: Rheumatoid arthritis (RA) is a chronic inflammatory disease manifesting itself in various extra-articular signs and progressive articular damage. The present study was designed to find out the incidence and clinico-immunological characteristics of patients with RA.Methods: This one-year observational study involved 150 adult patients attending orthopaedics department at Nehru Hospital, B.R.D. Medical College, 2010. Each patient was subjected to clinical, functional, radiological and laboratorial examination after taking informed consent. SPSS software was used for data analysis.Results: Nearly 36% patients had some radiological changes in the form of surrounding osteopenia articular erosion, joint space narrowing and degenerative changes. All NSAIDs when used alone showed poor fall in values of acute phase reactant i.e. ESR and CRP. Maximum fall in acute phase reactant was obtained by treatment with combination therapy of NSAID + hydroxychloroquine + methotrexate + sulfasalazine. NSAIDs did not prevent radiological progression of disease and in more than 50% radiological progression continued however when NSAIDs used with any DMARDs show radiological regression. Maximum radiological regression was caused by combination therapy of NSAID + hydroxychloroquine + sulfasalazine + methotrexate.Conclusions: All NSAIDs produced poor fall in values of acute phase reactants and radiological progression continued in majority of patients, when a DMARD or combination of DMARDs were used with NSAIDs response was much better and relief was obtained earlier, and remission was sustained for longer duration.
Extreme leukocytosis in a healthy young man and use of polymerase chain reaction for detection of BCR‑ABL
Authors: Joob Beuy , Wiwanitkit Viroj 
Published: July 2018

Dear Editor,chronic myeloid leukemia (CML) is a common myeloproliferative disorder seen in adult. The difficulty in diagnosis of the case is usually in case without overt blood picture finding. Here, the authors report a case of young male (24 years) who had routine blood examination before starting a job. His complete blood count was within normal limit except for an extremely high white blood count (more than 30,000). The blood smear examination showed leukocytosis without observation of abnormal blast cell. The immunological flow cytometry test result was negative. The patient was to have further diagnosis. The patient denied for bone marrow aspiration for cytological study selected to have an alternative peripheral blood test for real-time quantitative polymerase chain reaction (RQ-PCR) for BCR-ABL, and the result showed positive result. This case was finally diagnosed to have CML and the patient received oral nilotinib treatment. The repeated examination at 6 months showed major molecular response. The patient was still alive at present (2018, 5 years after the first diagnosis). This case is an example of early diagnosis of a CML case in healthy patient with the use of the new RQ-PCR test for BCR-ABL, which is considered the most available sensitive test at present. The test might be considered as a tool for additional screening for any case of unexplained asymptomatic extreme leukocytosis in asymptomatic healthy population. In fact, the use of the 65new molecular technique becomes the new useful test in oncohematology that can increase the chance of early diagnosis and reduce the unnecessary invasive harmful medical procedure to the patient. The other good example is the JAK2 test that can help diagnosis of polycythemia. In our countries, where the situation is still a developing country, the great concern for further management is the cost of the test. How to reduce the cost of the test to increase the affordability of the test to support the patient is the future goal.
Molecular genetic mechanisms of ovarian organization and development
Authors: Zenkina V. G. , Solodkova O. A. 
Published: July 2018

A review of the literature devoted to the analysis of conditions and development of the female reproductive gland. From the moment of the formation of urogenital scallops to the formation of a full gonad, at the different stages of ontogeny, a huge number of genes, factors and proteins are expressed, since in them the primary sex cells and in their surroundings render folliculogenesis and determine the reproductive health of a woman. Aberrant production of these factors can be the cause of ovarian dysfunction and disorders. Different points of view on the emergence of the problem of migration and colonization of germ cells in female gonads, as well as directions for further fundamental and practical research. The development and differentiation of the follicle is a succession of events that are tightly regulated by endocrine factors, intraocular regulators and intercellular interactions. The initial migration of germ cells and their multiplication within the urogenital scallop require regulation using integrated signals such as growth factors, transcription and differentiation, secreted oocytes, transforming growth factors, growth factor and differentiation-9, bone morphogenetic proteins, stem cell factor, basic growth factor of fibroblasts, tumor factor of Williams transcription, gene steroidogenesis, antimulylerovy hormone, meiosis-regulating genes and many others, as well as a contact these interactions of germ cells with extracellular matrix proteins and cellular substrates attract the developing gonads. Recent studies indicate the possibility of obtaining human gametes from the culture of stem cells, a distinct molecular genetic mechanism of the origin, migration and colonization of the sex cells. Consequently, the understanding that all the subtleties and molecular mechanisms at each stage of the bookmarking and development of the ovaries, germ cells and their environment, the death of gametes, can help in finding regulators and preventing pathological follicular depletion.
Clinical scale to assess of bronchial obstruction severity at preschoolers
Authors: Kamaltynova E. M. , Deev I. A. , Fedorova O. S. , Nikolaeva N. V. , Polevshchikova M. I. 
Published: July 2018

The severity of the disease is the main factor for further treatment. Bronchoobstructive syndrome of children is widespread. Early detection of the disease severity and correct treatment eliminate the clinical manifestation of the syndrome and improve the quality of patients life. Criteria of severity, as a rule, serve a certain set of clinical and paraclinical parameters used for different nosological forms. In particular, the decrease in parameters of the function of external respiration is the “gold standard” for assessing the severity. Lung function tests for preschoolers are limited. Clinical respiratory scales may be useful in the evaluation of preschooler. Alternative assessment respiratory function is sometimes used as clinical scale. Numerous studies devoted to the objective assessment of bronchial obstruction syndrome severity. A scientific literature review is dedicated to the analysis to the assessment of the bronchoobstructive syndrome severity degree and the effectiveness of therapy at preschool-aged children.
The restrained inguinal hernia at children with violation a floor form
Authors: Axel’rov M. A. , Khramova E. B. , Evdokimov V. N. , Shaytarova A. V. , Stolyar A. V. 
Published: July 2018

The most common surgical pathology of childhood, which is necessary for doctors of all specialties, is the inguinal hernia. In the treatment of this pathology, both open procedure and laparoscopic surgery are used. Infringement of a hernia, manifested by sudden or gradual compression of its contents in the gates, is a dangerous complication.Violation of the formation of sex - a condition associated with the clinical and biochemical manifestation of the discrepancy between the genetic, gonadal and phenotypic sex of the child. Traditionally, the term “hermaphroditism” is used to describe this state. A distinction is recognized between true hermaphroditism (gonadal) and false hermaphroditism (the presence of signs opposite to the gonadal sex of the subject). True hermaphroditism is a rare disease. False female hermaphroditism is attributed to conditions in which the female karyotype and gonads that are characteristic of the female sex are determined. But the external genitalia have a bisexual structure. The most common cause of false female hermaphroditism is congenital dysfunction of the adrenal cortex.According to several authors, a frequent cause of amblysexuality of the genitals in newborns is mixed gonadal dysgenesis – a condition in which phenotypic men or women have an egg on one side, and a gonadal cord located either in a wide bundle or on the pelvic wall and consisting from the stroma of the ovary on the other. At birth, the external genitalia are usually the penis, the uro-genital sinus and the labia genitalia, which are intertwined in the scrotum.Evaluation of the patient’s local status with violation of the formation of sex in the occurrence of surgical pathology is not an easy task, since the appearance of the external genitalia in the XX and XY subjects is the same. In 2015, in connection with the injured inguinal hernia in the department of pediatric surgery No. 1, the State Children’s Clinical Hospital “OKB No. 2” in Tyumen received treatment for two children with a violation of the formation of sex. Difficulties in interpreting intraoperative data prompted us to describe these cases.
Health and gene polymorphisms of the hemostatic system in newborn with thrombotic and ischemic events
Authors: Belousova T. V. , Leonova A. A. , Plyushkin V. A. 
Published: July 2018

The purposeof this study is to reveal the peculiarities of the state, polymorphism of hemostatic genes in newborns with thrombotic and related ischemic events.Materials and methods. The analysis of 40 fixed cards for newborns with thrombosis and isschemic events who were in the offices of GBUZ NSO “Novosibirsk State regional clinical hospital”. A study of indicators of blood coagulation, defined by the carriage of thrombohemorrhagic gene polymorphic variants was conducted. The control group included 30 healthy newborns.Results. The structure of thrombotic complications was analyzed, and a number of ischemic complications were revealed in infants. A statistical analysis was carried out, which allowed the presence of features of hemostatic system in thrombotic and related ischemic events in newborns to be established. The most significant gene polymorphisms found with these complications in the neonatal period of life are revealed.Conclusion. The hemostatic system in children of the considered group is characterized by a high Level of d-dimers, in the neonatal period, Leiden mutation is the most important, thrombotic and ischemic events are more common in children with a combination of several polymorphisms of the genes of the hemostasis system.