bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long-read sequencing identified intronic repeat expansions inSAMD12from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
Authors: Zeng Sheng , Zhang Mei-yun , Wang Xue-jing , Hu Zheng-mao , Li Jin-chen , Li Nan , Wang Jun-ling , Liang Fan , Yang Qi , Liu Qian , Fang Li , Hao Jun-wei , Shi Fu-dong , Ding Xue-bing , Teng Jun-fang , Yin Xiao-meng , Jiang Hong , Liao Wei-ping , Liu Jing-yu , Wang Kai , Xia Kun , Tang Bei-sha 
Published: September 2018

BackgroundThe locus for familial cortical myoclonic tremor with epilepsy (FCMTE) has long been mapped to 8q24 in linkage studies, but the causative mutations remain unclear. Recently, expansions of intronic TTTCA and TTTTA repeat motifs withinSAMD12were found to be involved in the pathogenesis of FCMTE in Japanese pedigrees. We aim to identify the causative mutations of FCMTE in Chinese pedigrees.MethodsWe performed genetic linkage analysis by microsatellite markers in a five-generation Chinese pedigree with 55 members. We also used array-comparative genomic hybridisation (CGH) and next-generation sequencing (NGS) technologies (whole-exome sequencing, capture region deep sequencing and whole-genome sequencing) to identify the causative mutations in the disease locus. Recently, we used low-coverage (~10×) long-read genome sequencing (LRS) on the PacBio Sequel and Oxford Nanopore platforms to identify the causative mutations, and used repeat-primed PCR for validation of the repeat expansions.ResultsLinkage analysis mapped the disease locus to 8q23.3–24.23. Array-CGH and NGS failed to identify causative mutations in this locus. LRS identified the intronic TTTCA and TTTTA repeat expansions inSAMD12as the causative mutations, thus corroborating the recently published results in Japanese pedigrees.ConclusionsWe identified the pentanucleotide repeat expansion inSAMD12as the causative mutation in Chinese FCMTE pedigrees. Our study also suggested that LRS is an effective tool for molecular diagnosis of genetic disorders, especially for neurological diseases that cannot be positively diagnosed by conventional clinical microarray and NGS technologies.
Transient in-stent stenosis at mid-term angiographic follow-up in patients treated with SILK flow diverter stents: incidence, clinical significance and long-term follow-up
Authors: Essbaiheen Fahad , AlQahtani Hanan , Almansoori Taleb Mohamed , Cora Elena Adela , Patro Satya , Tsehmaister-Abitbul Vered , Drake Brian , Lesiuk Howard , Finitsis Stephanos Nikolaos , Iancu Daniela 
Published: September 2018

BackgroundLittle is known about in-stent stenosis (ISS) in patients with aneurysms treated with flow diverter (FD) stents. The reported incidence in the literature varies significantly.ObjectiveThe aim of this study was to assess the incidence, severity, distribution, clinical significance, and possible predictors for ISS.MethodsBetween July 2012 and June 2016 we retrospectively reviewed all patients treated with SILK FDs in our center. Only cases with short-term (4±2 months) and long-term (>1 year) follow-ups with digital subtraction angiograms were included. ISS was graded as mild (<25%), moderate (25–50%) or severe (>50%). The following predictors for ISS were assessed: gender, age, the presence of subarachnoid hemorrhage, aneurysm size, location, occlusion status, and post-stenting angioplasty.ResultsThirty-six patients met the inclusion criteria. At mid-term follow-up, ISS was observed in 16/36 patients (44%). Eleven patients (69%) had mild ISS, three (19%) moderate, and two (12%) severe ISS. ISS was diffuse in 11 patients (69%) and focal in five patients (31%). All patients were asymptomatic. Thirteen patients were maintained on dual antiplatelet therapy and three on aspirin alone. At long-term follow-up, complete ISS resolution was seen in 11 patients, improvement in three and worsening in two patients. No de novo ISS occurrence was observed. On univariate analysis there was no significant predictor for ISS.ConclusionsTransient ISS after FD deployment is a common asymptomatic finding on mid-term angiographic follow-up. Complete resolution or improvement at long-term follow-up is seen in most patients who are maintained on dual antiplatelet therapy.
Self-sealing of claystone under X-ray nanotomography
Authors: Giot Richard , Auvray Christophe , Talandier Jean 
Published: September 2018

Abstract

Self-sealing tests were carried out on cylindrical samples artificially cracked on one-third of the diameter with a perfectly controlled aperture. Water was then injected into the crack. An innovative cell was used that had been developed, the body of which is transparent to X-rays. The sample could fully rotate in the nanotomograph, allowing a 3D reconstruction of images before, during and after tests, a visualization of the evolution of the cracked zone, and a quantification of the variations in crack volume during self-sealing. Permeability measurements were made to quantify the influence of self-sealing on flows. In the present work, two facies of claystone with different CaCO
3
contents were tested. In the clay-rich sample, an important but not total, reduction in volume was observed, as well as a large decrease in permeability, even if a safe claystone value was not recovered and a two-phase kinematic occurred. On the CaCO
3
-rich samples, a small volume reduction of the fracture was observed with a small decrease in water permeability. The influence of the mineralogy on the self-sealing capacity of the claystone was demonstrated and a threshold of carbonate content of around 40% was exhibited to discriminate samples able to self-seal from those that were not.
Vascular mitochondrial respiratory function: the impact of advancing age
Authors: Park Soung Hun , Kwon Oh Sung , Park Song-Young , Weavil Joshua C. , Andtbacka Robert H. I. , Hyngstrom John R. , Reese Van , Richardson Russell S. 
Published: September 2018

Little is known about vascular mitochondrial respiratory function and the impact of age. Therefore, skeletal muscle feed arteries were harvested from young (33 ± 7 yr, n = 10), middle-aged (54 ± 5 yr, n = 10), and old (70 ± 7 yr, n = 10) subjects, and mitochondrial respiration as well as citrate synthase (CS) activity were assessed. Complex I (CI) and complex I + II (CI+II) state 3 respiration were greater in young (CI: 10.4 ± 0.8 pmol·s−1·mg−1 and CI+II: 12.4 ± 0.8 pmol·s−1·mg−1, P < 0.05) than middle-aged (CI: 7 ± 0.6 pmol·s−1·mg−1 and CI+II: 8.3 ± 0.5 pmol·s−1·mg−1) and old (CI: 7.2 ± 0.4 pmol·s−1·mg−1 and CI+II: 7.6 ± 0.5 pmol·s−1·mg−1) subjects and, as in the case of complex II (CII) state 3 respiration, were inversely correlated with age [ r = −0.56 (CI), r = −0.7 (CI+II), and r = 0.4 (CII), P < 0.05]. In contrast, state 4 respiration and mitochondria-specific superoxide levels were not different across groups. The respiratory control ratio was greater in young (2.2 ± 0.2, P < 0.05) than middle-aged and old (1.4 ± 0.1 and 1.1 ± 0.1, respectively) subjects and inversely correlated with age ( r = −0.71, P < 0.05). As CS activity was inversely correlated with age ( r = −0.54, P < 0.05), when normalized for mitochondrial content, the age-related differences and relationships with state 3 respiration were ablated. In contrast, mitochondrion-specific state 4 respiration was now lower in young (15 ± 1.4 pmol·s−1·mg−1·U CS−1, P < 0.05) than middle-aged and old (23.4 ± 3.6 and 27.9 ± 3.4 pmol·s−1·mg−1·U CS−1, respectively) subjects and correlated with age ( r = 0.46, P < 0.05). Similarly, superoxide/CS levels were lower in young (0.07 ± 0.01) than old (0.19 ± 0.41) subjects and correlated with age ( r = 0.44, P < 0.05). Therefore, with aging, vascular mitochondrial respiratory function declines, predominantly as a consequence of falling mitochondrial content. However, per mitochondrion, aging likely results in greater mitochondrion-derived oxidative stress, which may contribute to age-related vascular dysfunction. NEW & NOTEWORTHY This study determined, for the first time, that vascular mitochondrial oxidative respiratory capacity, oxidative coupling efficiency, and mitochondrial content fell progressively with advancing age. In terms of single mitochondrion-specific respiration, the age-related differences were completely ablated and the likelihood of free radical production increased progressively with advancing age. This study reveals that vascular mitochondrial respiratory capacity declines with advancing age, as a consequence of falling mitochondrial content, as does oxidative coupling efficiency.
ЕНДОТЕЛІАЛЬНІ Й ІМУНОЛОГІЧНІ ЗМІНИ ПРИ КОМПРЕСІЙНО-ІШЕМІЧНІЙ РАДИКУЛОМІЄЛОПАТІЇ ТА ЇХ ЕНЕРГЕТИЧНА КОРЕКЦІЯ
Authors: Pogorelov V. V. , Bagmut I. Y. , Zhukov V. I. 
Published: September 2018

The pathological process of compression-ischemic radiculomyelopathy (CIRMP ) is accompanied by high energy costs. Therefore, topical is the use of drugs that improve energy metabolism in hypoxic conditions.The aim of the study – to investigate the features of the immuno-inflammatory process in CIRMP under the influence of meldonium.Materials and Methods. The parameters of 45 patients with CIRMP were investigated. All patients received conventional therapy. Patients of the group 1 (26 patients) received meldonium additionally, and in the group 2 (the main one – 19 patients) included "capicor". The levels of endothelin-1, cGMP , NO , interleukin-1β and -4, tumor necrosis factor-α were studied, aggregation properties of platelets were studied.Results and Discussion. Against the background of the treatment of patients with the use of meldonium and meldonium+γ-butyrobetan dihydrate, positive changes in the biochemical parameters: endothelin-1, cGMP , NO , interleukins 1β and 4, tumor necrosis factor α, aggregation properties of platelets, improvement of the function of the endothelium and blood circulation in the microvessels of the rootlets, which, in turn, led to the restoration of the functional state of roots and spinal cord.Conclusions. The use of meldonium and meldonium+γ-butyrobetaine in the therapy of patients with CIRMP was accompanied by a regression of clinical manifestations, which is associated with an improvement in blood circulation in the vessels of the spinal roots and back muscles. A more pronounced effect was influenced by meldonium in combination with γ-butyrobetaine.
ФАКТОРИ РИЗИКУ ПРОФЕСІЙНИХ ЗАХВОРЮВАНЬ МЕДИЧНИХ ПРАЦІВНИКІВ (ОГЛЯД ЛІТЕРАТУРИ)
Authors: Bodnar L. P. , Bob A. O. , Bodnar R. Ya. , Reha N. I. , Bodnar T. V. 
Published: September 2018

The study of the risk factors of occupational diseases is a medical and social issue from a view point of practice and sociology, it is a theoretical basis for the development of methods for their prevention. The official statistical reports prove that in Ukraine, more than 60 % of 1.1 million health workers undergo harmful exposure and danger, and occupational disease occurrence among them is recorded at the level of 0.71 per 100 thousand working population. In the structure of occupational diseases, tuberculosis is first (80–100 %, on average – 87.7 %), diseases of musculoskeletal system are second (1.3–6.7 %, on average – 3.1 %), allergic diseases are third – 1.0–5.1 % (on average – 2.3 %).The aim of the study – to learn and summarize the causes of professional diseases of medical workers in Ukraine.Materials and Methods. Occupational morbidity of medical staff is caused by the influence of risk factors: mechanical, physical, chemical, biological, nervous-emotional. Medical workers under static work conditions are exposed to negative mechanical influences. The harmful effects of physical factor are considerably increased at present due to a widespread implementation of equipment with light, electromagnetic and radioactive radiation into medical and diagnostic processes. Due to the rapid development of chemical and pharmaceutical industries, the number of chemicals that cause not only the therapeutic effect on a patient but also have a negative impact on healthcare workers in cases of their systematic use has increased significantly.Results and Discussion. A group of occupational diseases caused by pathogens of tuberculosis, toxoplasmosis, viral hepatitis, skin mycoses, syphilis, and HIV infection is an urgent matter of health care in Ukraine. The risk of HIV infection is about 0.3 % and reaches 10 % in cases of hepatitis C virus, and 30 % in hepatitis B virus. In Ukraine, according to the Ministry of Health, every year 30.0–50.0 thousand patients are diagnosed with this illness (84.1 per 100 thousand population). Manifestations of the emotional affection as a symptom complex of “professional burnout” have been revealed in almost 80 % of psychiatrists, psychotherapists, narcologists, in 61.8 % of dentists, and 60.6 % of medical nurses of oncology departments.Conclusion. The analyses of occupational diseases cases among healthcare workers of various medical facilities of Ukraine in 2011–2017 has proved that the highest number of occupational diseases is registered in TB facilities – 70.1–95.5 %. 3.0–6.4 % of all occupational diseases in the healthcare have been registered in community hospitals, 1.5–10.2 – in psychoneurological hospitals, 1.9–3.0 % – in the Bureau of Forensic Medicine and 2.6–3.0 % – in research institutions.
ДИНАМІКА КЛІТИННОГО СКЛАДУ ПЕЧІНКИ ЩУРІВ ПІСЛЯ ВНУТРІШНЬОУТРОБНОГО ВВЕДЕННЯ ДЕКСАМЕТАЗОНУ В РАННЬОМУ ПІСЛЯНАТАЛЬНОМУ ПЕРІОДІ
Authors: Hryhorieva O. A. , Bohdanov P. V. 
Published: September 2018

The controversial issue in obstetrics today is the use of glucocorticoids during pregnancy, because they can have both a positive and negative impact on the processes of formation of organs and can lead to pathological conditions in the postnatal period.The aim of the study – to determine the dynamics of the cellular composition of the liver of rats after intrauterine administration of dexamethasone in the early postnatal period.Materials and Methods. The 72 laboratory rats’ liver was studied in this work. All animals were divided into 3 groups: 1 – intact, 2 – control, 3 – experimental (animals which had have injection of dexamethasone in antenatal period). Using histological, morphometric and statistical methods of research, the absolute number of cells per unit area have been calculates in two zones of hepatic lobules – central and peripheral.Results and Discussion. It was established that on the first day of life in experimental animals, the number of hepatocytes increases in comparison with control and significantly reduces the number of endothelial cells of sinusoidal capillaries and stellate macrophages. On the 14th day of life, on the contrary, the number of hepatocytes decreases with the simultaneous increase in the number of sinusoidal endothelial cells, stellate macrophages and lymphocytes.Conclusions. Thus, antenatal dexamethasone influence results in liver bring to changes in the ratio between rat’s liver cells with peaks on the first and fourteenth day of life.
РОЛЬ СПЕЦІАЛЬНОЇ ОРТОПЕДИЧНОЇ ПІДГОТОВКИ ПАЦІЄНТІВ ІЗ ДЕФОРМАЦІЯМИ ЗУБНИХ РЯДІВ НА ФОНІ РЕВМАТОЇДНОГО АРТРИТУ (ОГЛЯД ЛІТЕРАТУРИ)
Authors: Havaleshko V P. , Koshkin O. Ye. , Rozhko V. I. 
Published: September 2018

The article highlights the role of special prosthodontic treatment of patients with rheumatoid arthritis and dental row deformations.The aim of the study – to conduct the analysis of modern domestic and foreign literature the causes of special prosthodontic treatment for patients with dental row deformations and rheumatoid arthritis.Materials and Methods. The research used bibliosemantic and analytical methods.Results and Discussion. During the study, the latest scientific and domestic and foreign medical literature data on the issue of prosthodontic preparation for patients with dental row deformations on a background of rheumatoid arthritis were studied and analyzed.Conclusions. Nowadays, the question of choosing the best prosthodontic treatment for patients with dental row deformations on a background of rheumatoid arthritis is not studied enough. Prosthodontic treatment of patients with partial tooth loss and temporomandibular joint disorders should be true strictly individually and complex after general treatment and at the period of rheumatoid arthritis remission.
H. PYLORI-ІНФЕКЦІЯ У ПАЦІЄНТІВ ІЗ ХРОНІЧНИМ ОБСТРУКТИВНИМ ЗАХВОРЮВАННЯМ ЛЕГЕНЬ У ПОЄДНАННІ З ГАСТРОПАТІЯМИ
Authors: Chetaikina A. V. , Skliarov E. Ya. 
Published: September 2018

Recently, the number of publications on the link between respiratory diseases and Helicobacter Pylori infection was growing. Especially, this was observed for COPD , bronchial asthma, chronic bronchitis and lung cancer.The aim of the study – to evaluate the correlation between the levels of H. pylori IgG and spirometry data for COPD patients.Materials and Methods. The total of 68 patients were examined, including 44 males (64.7 %) and 24 females (35.3 %). The patients were divided into two groups; group 1 included 23 patients mainly with stage 2 COPD , whereas group 2 made up of 45 COPD stage 3 patients. All the patients underwent general clinical tests, namely the collection of anamnestic data establishing the risk factors, course, COPD duration and recurrence rate, chest X-ray and spirometry.Results and Discussion. The examination of 68 patients with stage 2 and stage 3 COPD comorbid with gastroduodenal erosions and ulcers revealed smoking and H. pylori infection to be the major risk factors. The smoking history was significantly longer for stage 3 COPD patients, and there was a weak correlation between H. pylori IgG and smoking history length. Erosive and ulcerative defects were observed in both patient groups. H. pylori IgG levels were significantly higher in Stage 3 COPD patients, as compared to Stage 2 patients. The highlight of the work was to detect the correlation between helicobacter infection and both FEV 1 and FVC, while a significant decrease in these parameters backed with H. pylori infection was observed.Conclusions. The course of COPD is often accompanied by the appearance of erosive-ulcerative lesions of the gastroduodenal zone. Detection of negative correlation bonds between FEV 1 and FVC and H. pylori infection indicates a possible pathogenetic role of the helicobacter in the development of COPD . Provisions of Maastricht V should be used when detecting H. pylori infection with COPD patients.
ДІАГНОСТИЧНА ІНФОРМАТИВНІСТЬ САЛІВАРНИХ ПОКАЗНИКІВ ГОМЕОСТАЗУ РОТОВОЇ ПОРОЖНИНИ ПРИ СТОМАТОЛОГІЧНІЙ ТА СУПУТНІЙ ПАТОЛОГІЯХ У ДІТЕЙ (ОГЛЯД ЛІТЕРАТУРИ)
Authors: Petruniv V. B. 
Published: September 2018

The article highlights the role of diagnostics of saliva in maintaining oral homeostasis as quality criteria of children’s health.The aim of the study – to conduct the analysis of modern domestic and foreign literature in relation to perspective of diagnostics of oral liquid indexes of the antioxidant system in children.Materials and Methods. The research used bibliosemantic and analytical methods.Results and Discussion. During the study, the latest scientific domestic and foreign medical literature data on the issue of saliva diagnostics in maintaining oral homeostasis for children with stomatological pathologies on a background of concomitant diseases were studied and analyzed.Conclusions. Nowadays, the saliva indexes of oral homoeostasis can be used as markers of violation of general state, intensity of pathological processes, monitoring of conducted treatment efficiency and also expansion of ideas about etiology and pathogenesis of stomatological and somatic diseases in children.
КОМПЛЕКСНЕ ЛІКУВАННЯ ГЕНЕРАЛІЗОВАНОГО ПАРОДОНТИТУ В НАРКОЗАЛЕЖНИХ, ХВОРИХ НА ТОКСИЧНИЙ ГЕПАТИТ
Authors: Patalakha O. V. , Loskutova I. V. 
Published: September 2018

Generalized parodontitis (GP ) occurs and proceeds against a background of violations of the indices of local immunity of the oral cavity of patients. Modern ideas about the causes of inflammatory parodontal diseases are based on the violation of local and general immune mechanisms, sensitization of the organism to antigens produced by pathogenic microorganisms, the presence of somatic pathology. The use of narcotic drugs causes disturbances in the functioning of the immune system. For the complex treatment of inflammatory parodontal diseases, the use of a drug with immunomodulating activity - nuklex and agents, which reduces the amount of oxidized stress products and has a hepatoprotective effect – mexidol is suggested.The aim of the study – to learn the dynamics of general and local immunity indices (for the concentration of cytokines) in patients with generalized parodontitis with toxic hepatitis in opioid dependence during complex treatment.Materials and Methods. 65 patients with GP were examined in the stage of unstable remission: 19 women (29.2 %) aged 20 to 45 years and 46 men (70.8 %) aged 19 to 47 years. All patients are on dispensary supervision with an expert in narcology about opioid addiction. At the stomatologic examination, GP of the second degree, toxic hepatitis is established. To determine the cytokine profile, samples of blood serum and mixed saliva were used in drug addicts, patients with Hepatitis B with toxic hepatitis, and healthy donors (reference norm).Results and Discussion. Development of GP , especially in persons with toxic lesions (drug addiction), is accompanied by significant changes in the state of immune mechanisms of oral protection, which are manifested in local changes in the composition of gum cells, as well as the content of immunoglobulins and cytokines in the saliva. As a result of the conducted studies, before the beginning of preventive treatment, an increase in the level of IL-6, IL-8 and IL-10 was observed against the background of a decrease in γ-IFN. After finishing the treatment in patients with GP with opioid dependence with toxic hepatitis, there was an improvement in the indices of the studied cytokines (IL-6, IL-8, γ-IFN and IL-10). At the same time, a more pronounced positive dynamics of these indices was manifested in patients, an additional combination of nucleax and mexidol was taken.Conclusions. To study the activity of local immunity in drug-dependent patients with toxic hepatitis, it is expedient to determine the level of cytokines by a non-invasive method. Imbalance of pro-inflammatory and anti-inflammatory cytokines is considered as a reflection of the inflammatory and autoimmune process. In the treatment of generalized parodontitis with the inclusion of a combination of nucleic acid and mexidol, the production of cytokines is restored. The use of this combination reduces the destructive-inflammatory process in the parodontium and the severity of immunodeficiency.