Clinical-morphological parallels of the PNPLA3 gene polymorphism in patients with nonalcoholic fatty liver disease

Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease, and its detection in the general population has reached a global scale. Despite the fact that in the early stages the disease is characterized by a relatively mild period, the development during its natural course of nonalcoholic steatohepatitis, cirrhosis and hepatocellular carcinoma causes deterioration of long-term forecast. Growing evidence indicates that NAFLD is a complex, multifaceted etiology, involving many factors, including genetic. In the present review, we focused on the genetic component of NAFLD, namely, the role of the PNPLA3 gene polymorphism in the development and course of the disease, and States its progression, such as non-alcoholic steatohepatitis, liver cirrhosis and hepatocellular carcinoma

Supernovae - Optical Precursors of Short Gamma-Ray Bursts

The probability of observing "supernova - gamma-ray burst" (GRB) pair events and recurrent GRBs from one galaxy in a time interval of several years has been estimated. Supernova explosions in binary systems accompanied by the formation of a short-lived pair of compact objects can be the sources of such events. If a short GRB is generated during the collision of a pair, then approximately each of ~300 short GRBs with redshift z must have an optical precursor - a supernova in the observer's time interval <2(1+z)yr. If the supernova explosion has the pattern of a hypernova, then a successive observation of long and short GRBs is possible. The scenario for the generation of multiple GRBs in collapsing galactic nuclei is also discussed.Comment: 12 pages, 1 figure; this paper has the e-precursor arXiv:1101.3298 [astro-ph.HE

Women’s experience of divorce. Acta biomedica scientifica

The article is devoted to the problem of studying the experience of women going through the situation of divorce at different stages of the divorce and post-divorce period.Methods. The study was carried out at the intersection of idiographic and nomothetic approaches. At the first stage, the specifics of the experience of experiencing divorce in the online space are described, revealed through an interpretive-phenomenological analysis of the content of a closed Internet forum (n = 297). On the second – the specifics of emotional perception, cognitive assessment and coping with the situation of divorce, depending on the post-divorce experience (n = 50).Results. The experience of divorce by women is accompanied by ambivalent emotions, activates the understanding of the situation and coping with it. Online communication is an effective strategy focused on getting support, self-change, designing the future, allowing you to experience a sense of community in a life situation while maintaining psychological safety. The assessment of the divorce situation and coping strategies are specific: women who have gone through a divorce less than 3 years ago are more likely to seek social support; from 3 to 10 years – prefer the strategy of “flight-avoidance”; more than 10 years ago – “positive revaluation”. Conclusion. The experience of women experiencing the situation of divorce, including emotional, cognitive and conative components, is specific depending on the stage of the divorce and post-divorce period. An effective mechanism for shaping the experience of experiencing a divorce is network communication in a closed group of people who have similar problems

Swift J164449.3+573451 event: generation in the collapsing star cluster?

We discuss the multiband energy release in a model of a collapsing galactic nucleus, and we try to interpret the unique super-long cosmic gamma-ray event Swift J164449.3+573451 (GRB 110328A by early classification) in this scenario. Neutron stars and stellar-mass black holes can form evolutionary a compact self-gravitating subsystem in the galactic center. Collisions and merges of these stellar remnants during an avalanche contraction and collapse of the cluster core can produce powerful events in different bands due to several mechanisms. Collisions of neutron stars and stellar-mass black holes can generate gamma-ray bursts (GRBs) similar to the ordinary models of short GRB origin. The bright peaks during the first two days may also be a consequence of multiple matter supply (due to matter release in the collisions) and accretion onto the forming supermassive black hole. Numerous smaller peaks and later quasi-steady radiation can arise from gravitational lensing, late accretion of gas onto the supermassive black hole, and from particle acceleration by shock waves. Even if this model will not reproduce exactly all the Swift J164449.3+573451 properties in future observations, such collapses of galactic nuclei can be available for detection in other events.Comment: 7 pages, replaced by the final versio

Применение методов ELISA и иммуноблота для выявления аутоантител против рековерина в сыворотке крови больных мелкоклеточной карциномой легких

Paraneoplastic (onconeural) antigens involve normal high-specific for the nervous system proteins which could be also expressed by tumor cells outside the nervous system. While entering the blood vessels paraneoplastic antigens initiate an autoimmune process resulted in production of autoantibodies which evoke paraneoplastic neurological syndrome occurrence. One of the paraneoplastic antigens — Ca2+-binding protein recoverin — can be expressed by some tumors' cells and induce autoimmune injury of the retina. We compared ELISA and immunoblotting methods to detect autoantibodies against recoverin in sera of lung cancer patients and demonstrated the ELISA to be non-specific whereas the immunoblotting is quite sensitive and specific for serial analysis of sera of lung cancer patients to detect the anti-recoverin autoantibodies.К паранеопластическим (онконевральным) антигенам относят белки, которые в норме высокоспецифичны для нервной системы, но при злокачественной трансформации могут экспрессироваться также клетками раковой опухоли, локализованными вне нервной системы. При попадании в кровяное русло паранеопластические антигены инициируют аутоиммунный процесс, в результате чего генерируются аутоантитела, которые, преодолевая гематотканевый барьер, вызывают развитие паранеопластического неврологического синдрома. Один из паранеопластических антигенов — Са2+-связывающий белок рековерин — может экспрессироваться клетками некоторых опухолей и тем самым индуцировать аутоиммунный процесс, приводя в конечном счете к развитию аутоиммунной дегенерации сетчатки. В этой работе мы провели сравнение применения методов ELISA и иммуноблота для определения аутоантител против рековерина в сыворотке крови больных раком легких и показали, что метод ELISA неспецифичен, в то время как иммуноблот обладает необходимыми специфичностью и чувствительностью, достаточными для серийного анализа сыворотки крови больных раком легких на присутствие в них аутоантител против рековерина

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families

<p>Abstract</p> <p>Background</p> <p>Both recurrent and population specific mutations have been found in different areas of the world and more specifically in ethnically defined or isolated populations. The population of Slovenia has over several centuries undergone limited mixing with surrounding populations.</p> <p>The current study was aimed at establishing the mutation spectrum of <it>BRCA1/2 </it>in the Slovenian breast/ovarian cancer families taking advantage of a complete cancer registration database. A second objective was to determine the cancer phenotype of these families.</p> <p>Methods</p> <p>The original population database was composed of cancer patients from the Institute of Oncology Ljubljana in Slovenia which also includes current follow-up status on these patients. The inclusion criteria for the <it>BRCA1/2 </it>screening were: (i) probands with at least two first degree relatives with breast and ovarian cancer; (ii) probands with only two first degree relatives of breast cancer where one must be diagnosed less than 50 years of age; and (iii) individual patients with breast and ovarian cancer, bilateral breast cancer, breast cancer diagnosed before the age of 40 and male breast cancer without any other cancer in the family.</p> <p>Results</p> <p>Probands from 150 different families met the inclusion criteria for mutation analysis of which 145 consented to testing. A <it>BRCA1/2 </it>mutation was found in 56 (39%). Two novel large deletions covering consecutive exons of <it>BRCA1 </it>were found. Five highly recurrent specific mutations were identified (1806C>T, 300T>G, 300T>A, 5382insC in the <it>BRCA1 </it>gene and IVS16-2A>G in the <it>BRCA2 </it>gene). The IVS16-2A>G in the <it>BRCA2 </it>gene appears to be a unique founder mutation in the Slovenian population. A practical implication is that only 4 PCR fragments can be used in a first screen and reveal the cancer predisposing mutation in 67% of the <it>BRCA1/2 </it>positive families. We also observed an exceptionally high frequency of 4 different pathogenic missense mutations, all affecting one of the cryptic cysteine residues of the <it>BRCA1 </it>Ring Finger domain.</p> <p>Conclusion</p> <p>A high mutation detection rate and the frequent occurrence of a limited array of recurring mutations facilitate <it>BRCA1/2 </it>mutation screening in Slovenian families.</p

Why children differ in motivation to learn: Insights from over 13,000 twins from 6 countries.

Little is known about why people differ in their levels of academic motivation. This study explored the etiology of individual differences in enjoyment and self-perceived ability for several school subjects in nearly 13,000 twins aged 9 to 16 from 6 countries. The results showed a striking consistency across ages, school subjects, and cultures. Contrary to common belief, enjoyment of learning and children’s perceptions of their competence were no less heritable than cognitive ability. Genetic factors explained approximately 40% of the variance and all of the observed twins’ similarity in academic motivation. Shared environmental factors, such as home or classroom, did not contribute to the twin’s similarityin academic motivation.Environmental influences stemmedentirely from individual specific experiences

'OH MY GOD! BUY IT!' A multimodal discourse analysis of the discursive strategies used by Chinese ecommerce live-streamer Austin Li

Ecommerce livestreaming, also known as live commerce or social commerce, has taken off over the past two years in East Asia and is showing the tendency of going global. Intrigued by the phenomenal success of ecommerce livestream, we concentrate on analyzing the most prominent and illustrative ex- ample of Chinese ecommerce live-streamer Austin Li. Through this individual case study, we aim to investigate discursive strategies employed in ecommerce livestreaming and reveal resources specific to this new media genre. Guided by multimodal discourse analysis, our research first accommodates the socio-eco- nomic context of Li’s success to warrant social situatedness in interpreting data. After that we move into analyzing his discourse employed in livestreaming. Re- search findings suggest that in attention economy, Li strategically utilizes his male gender as a resource in trying on lipsticks for female customers. His dis- course in multiple modes serves to build consumer trust and propagate products. An in-depth analysis of his discursive strategies indicates that, ecommerce livestreaming as a new form of advertising not only shares commonalities with traditional advertisement discourse but also embodies affordances that are spe- cific to livestreaming platforms. To be more specific, livestreaming is featured with delimitation of time, real-time interactivity, and video-aided communica- tion. These affordances enable Li to adopt more interactive and personalized per- suasive discourse than conventional advertisement

High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients

<p>Abstract</p> <p>Background</p> <p>A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients with OC diagnosis. Recurrent mutations constitute the vast majority of BRCA defects in Russia, however their impact in OC morbidity has not been yet systematically studied. Furthermore, Russian population is characterized by a relatively high frequency of CHEK2 and NBS1 (NBN) heterozygotes, but it remains unclear whether these two genes contribute to the OC risk.</p> <p>Methods</p> <p>The study included 354 OC patients from 2 distinct, geographically remote regions (290 from North-Western Russia (St.-Petersburg) and 64 from the south of the country (Krasnodar)). DNA samples were tested by allele-specific PCR for the presence of 8 founder mutations (BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, BRCA2 6174delT, CHEK2 1100delC, CHEK2 IVS2+1G>A, NBS1 657del5). In addition, literature data on the occurrence of BRCA1, BRCA2, CHEK2 and NBS1 mutations in non-selected ovarian cancer patients were reviewed.</p> <p>Results</p> <p>BRCA1 5382insC allele was detected in 28/290 (9.7%) OC cases from the North-West and 11/64 (17.2%) OC patients from the South of Russia. In addition, 4 BRCA1 185delAG, 2 BRCA1 4153delA, 1 BRCA2 6174delT, 2 CHEK2 1100delC and 1 NBS1 657del5 mutation were detected. 1 patient from Krasnodar was heterozygous for both BRCA1 5382insC and NBS1 657del5 variants.</p> <p>Conclusion</p> <p>Founder BRCA1 mutations, especially BRCA1 5382insC variant, are responsible for substantial share of OC morbidity in Russia, therefore DNA testing has to be considered for every OC patient of Russian origin. Taken together with literature data, this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.</p