Dominant Pattern Research Articles

Medical Treatment Strategies for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic heart disease inherited in an autosomal dominant pattern with an estimated prevalence of 0.6% in the general population. Clinical manifestations of HCM vary considerably, with symptoms ranging from none or mild exercise intolerance to severe lifestyle-limiting symptoms, advanced heart failure, and sudden cardiac death. Current management options for HCM include lifestyle modifications, familial screening with genetic counseling, pharmacotherapy for symptom control, sudden cardiac death risk stratification with or without defibrillator implantation, septal reduction therapy, and, in some cases, heart transplantation. Only recently have strongly targeted medical therapies for HCM, such as myosin inhibitors, been studied in multicenter randomized controlled trials. In this report, we review the currently available medical treatments for HCM and the future directions of HCM pharmacotherapy, and we highlight important unmet needs in this population.

Reworlding: Urban Play as Method for Exploring Alternate Social Imaginaries

Urban play is a way of being, a frame for the reimagination of the world, and an opening up of potential and possibility. Playable cities from around the world demonstrate that this approach to civic engagement can improve public spaces and infrastructure and connect people to their cities and each other. The city as playground may be explored through creative practice methodologies and practices that emerge from urban play described as “reworlding.” Drawing upon field research within the Poblenou superilla and in Melbourne in response to Indigenous ways of being, various urban play methodologies and practices are articulated. Connections are explored between Barcelona’s inventive approach to public space, First Peoples connection to place and the alternate social imaginaries that emerge. However, while these worlds are present, they are obscured by dominant patterns of urban design—urban play methods are explored to bring them to the surface, making them playable.

Case report on Caffeys disease in an adolescent with a familial aspect

Caffey’s disease is a bone disorder that most often occurs in babies. It is inherited in an autosomal dominant pattern but not all people who inherit the genetic change develop signs and symptoms. Most people with Caffey’s disease have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. The peculiarity about this case was its presence in the adolescent stage of the child’s growth. This condition is mostly underreported due to its regression in childhood itself, and hence we have reported this unique case. The parents presented with complaints of a different etiology and with complaints of bone pains and deformity since birth. He was diagnosed primarily with Caffey’s disease after ruling out other diagnoses. There is very little literature on Caffey’s disease due to its regression in early childhood.

Pengaruh Media Video Pembelajaran untuk Meningkatkan Penerapan Prosedur Pada Materi Sub Tema Pola Gerak Dominan Senam di Kelas 5 SD

The purpose of this study was to determine the increase in the application of student procedures after the use of learning video media on the sub-theme of the dominant movement pattern of grade 5 elementary school gymnastics. This study used a quantitative approach. The data used is taken from the value of the results of the front roll practice. The number of samples in this study was 25 grade 5 elementary school students. Data analysis technique using paired sample test. The results showed that there was a significant influence on the application of procedures after the use of learning video media.

Spatiotemporal drought characteristics during growing seasons of the winter wheat and summer maize in the North China Plain

The North China plain (NCP) is an important production base for winter wheat and summer maize in China. Severe droughts seriously restrict agricultural production in this region, threatening food security. Based on the standardized precipitation evapotranspiration index (SPEI), this study explored the spatial and temporal drought characteristics during the winter wheat and summer maize growing seasons in the region. The study found that: 1) From 1980 to 2013, the drought trend of the winter wheat growing season in the NCP has intensified, with Huang-Huai Plain agricultural area (HH_P) showing the most significant drought trend. However, the summer maize growing season has become wetter, with the Shandong hilly agricultural and forestry area (SD_Q) showing the most significant wetting trend. 2) After the year 2003, the results from Mann-Kendall trend analysis revealed that the drought trend of HH_P during the winter wheat growing season became particularly pronounced, but the wetting trend of SD_Q and HH_P during the summer maize growing season became more evident. 3) The dominant spatial patterns observed in the NCP during the growing seasons of winter wheat and summer maize were marked by a consistent distribution of drought and wetness conditions. For winter wheat, the southern regions of the foothill plain area of Yanshan and Taihang Mountains (YT_P) and the low-lying plain area of Hebei, Shandong, and Henan (JLY_P) were more sensitive to the changes of drought and wet conditions. For summer maize, SD_Q was more sensitive to the changes of the drought and wet conditions. The results of this study could provide references for the formulation of drought relief strategies of winter wheat and summer maize in the NCP.

Seasonal predictability of the dominant surface ozone pattern over China linked to sea surface temperature

Mitigation surface ozone pollution becomes increasingly pivotal in improving China’s air quality. However, the impact of global sea surface temperature anomalies (SSTA) on the long-term predictability of China’s surface ozone remains challenging. In this study, we employ eigen techniques to effectively characterize dominant surface ozone patterns over China, and establish cross-correlations between the dominant patterns and global SSTA time series. Our findings reveal that China’s summer ozone pollution is strongly associated with crucial SSTA clusters linked to atmospheric circulations, i.e., the West Pacific Subtropical High and the Pacific-North American teleconnection pattern. For winter, ozone pollution is attributed to SSTA clusters related to the Southern Oscillation, the Madden-Julian Oscillation and others. We propose a multivariate regression model capable of predicting surface ozone patterns with a lead time of at least 3 months. Evaluation of our model using a testing dataset yields an R-value of around 0.5 between predicted and observed data, surpassing statistical significance threshold. This suggests the viability and potential applicability of our predictive model in surface ozone forecasting and mitigation strategies in China.

AYURVEDIC MANAGEMENT OF POSTERIOR POLAR CATARACT: A CASE STUDY

Posterior Polar Cataract is the rare subset of congenital cataracts resulting in defective vision. It follows an autosomal dominant inheritance pattern and is occasionally sporadic due to the high incidence of intraoperative complications, which include posterior capsular rent, nucleus drop, etc. Posterior Polar Cataract is a surgical challenge for ophthalmologists. Ayurveda cataracts can be described in the context of Timira, Kacha and Linganasha. Timira is a disease of the Drishti Mandala, which presents with blurred vision initially, and if left untreated, it will progress to Kacha, which, if neglected, will lead to Linganasha. Linganasha is the last stage, where there is complete vision loss. A 37-year-old female patient complaining of blurred vision for distance and glare at night for two years is presented here. She was diagnosed with Posterior polar cataract one year back. The patient underwent Ayurveda treatment of shodhana and shamana chikitsa after properly assessing Rogi and Roga bala, which includes- Kayavirchana, Shirovirechana, Kriyakalpas (Akshitarpana, Anjana) and Rasayana prayogas. Assessment after the above treatment has shown improvement in the patient's visual acuity. From this study, it can be concluded that Ayurvedic treatment can preserve and give a better quality of vision to the patient of Posterior Polar Cataract, as surgery includes a high risk of capsular rupture and vitreous loss that can lead to worse visual outcomes.

Electroseismic Scholte‐wave analysis: A potential method for estimating shear‐wave velocity structure of shallow‐water seabed sediments

AbstractThe potential application of conducting Scholte‐wave analysis using electroseismic pressure fields excited by an electric current source due to the electrokinetic effect in fluid‐saturated porous seabed sediments is investigated. First, we develop a numerical modelling algorithm by combining the Luco–Apsel–Chen generalized reflection and transmission method with the peak‐trough averaging method to simulate the electroseismic wave fields in stratified fluid/porous media. The modelling results show that the electroseismic pressure signals recorded on the seafloor are mainly composed of evanescent electroseismic waves, and Scholte waves are the dominant wave pattern. Their amplitudes are generally within the order of magnitudes capable of being detected by current seismic instruments. Then, the modified frequency–Bessel transform method is extended to extract the Scholte‐wave dispersion curves from electroseismic pressure fields. Results demonstrate that Scholte‐wave dispersion curves extracted from electroseismic records are superior to those extracted from conventional seismic wave fields excited by an airgun source under the same source–receiver geometry because they contain many overtones and are almost free from the interferences of dispersive guided waves. Furthermore, the Scholte‐wave dispersion inversion results obtained by employing the Levenberg–Marquardt method show that the shear‐wave velocity model inverted by Scholte‐wave dispersion curves extracted from the electroseismic pressure field is more accurate than those obtained by dispersion curves extracted from the seismic wave fields with the guided‐wave removal. The above results indicate that the electroseismic Scholte‐wave analysis method has the potential to evaluate the shear‐wave velocities of shallow‐water seabed sediments.

Familial Adenomatous Polyposis within the Pediatric Hereditary Polyposis Registry

Background/Objective: 
 Familial Adenomatous Polyposis (FAP) is a condition characterized by values exceeding hundreds of colorectal adenomatous polyps. FAP has a prevalence of 1 in 8,300 people, demonstrating an autosomal dominant inheritance pattern. This condition follows a pathogenic variation of the Adenomatous Polyposis Coli (APC) gene, located on chromosome 5q21-22. These mutations are heavily correlated with the incidence of colorectal carcinoma, requiring prophylactic colectomy. The management and treatment of FAP requires routine surveillance to reduce gastrointestinal polyp burden. The objective for this study is to characterize the current patient population at Riley with polyposis syndromes and assess clinical surveillance in patients diagnosed with FAP. 
 Methods: 
 Historical data from 2020-2022 GI clinical visits were reviewed using the diagnostic codes Family history of colonic polyps, Benign neoplasm of colon unspecified, and Other phakomatoses not elsewhere classified. These criteria identified 93 patients of which 64 patients were diagnosed with a hereditary polyposis syndrome for inclusion within the registry. Of the 64 patients, 42 had a diagnosis of FAP. Clinical data reviewed included the patient’s age of diagnosis, completion of genetic testing and follow-up, surgical treatment, routine endoscopic surveillance, and modes of imaging. 
 Results: 
 Results indicated a median age of diagnosis of 10 years, lower than previously reported national averages of 13.5-17 years. Evaluation of routine follow-up indicated a rate of endoscopy at 0.822 scopes per year and demonstrated that abdominal CT scans as well as abdominal X-rays were the most common supplemental modes of imaging. 
 Conclusion/ Future Directions: 
 The data from this registry will help direct care of patients with FAP, ensuring they receive treatment in accordance with national guidelines for routine surveillance and prophylactic colectomy. Moving forward, the intention is to expand the registry's date range to incorporate more patients and elaborate further on endoscopic findings for the specific subtypes of FAP.

Characteristics and immune checkpoint status of radioiodine-refractory recurrent papillary thyroid carcinomas from Ukrainian Chornobyl Tissue Bank donors.

The radioiodine-refractory (RAI-R) recurrent papillary thyroid carcinomas (PTCs) are more frequent in elderly patients and have an unfavorable prognosis. Data on the prevalence and characteristics of RAI-R recurrent PTCs in patients of young and middle age with or without a history of radiation exposure in childhood are poorly described. The aim of the current study was: i) to determine the frequency of RAI-R recurrent PTCs among donors of the Chornobyl Tissue Bank (CTB) and analyze the clinicopathological features of primary tumors (PTs), primary metastases (PMTSs), recurrent metastases (RMTSs) and risk factors for RMTS, and ii) to determine the immune checkpoint status (ICS) of the RAI-R recurrent PTCs and to assess the factors associated with ICS positivity. Sixty RAI-R recurrent PTCs (46 exposed to radiation and 14 non-exposed, 2.5% of all cases registered with the CTB) from the Ukrainian patients aged up to 48 years were identified. The clinicopathological characteristics of the PTs moderately to weakly resembled those of the PMTS and RMTS from the same patients while the metastatic tissues were highly similar. The multivariate model of RMTS included the dominant solid-trabecular growth pattern of the PT, cystic changes, N1b metastases, and the probability of a causation (POC) of PTC by radiation as risk factors. Among these factors, the lateral PMTS (N1b) had the strongest effect. The longer period of latency (a POC component) was the second statistically significant characteristic. ICS percent agreement between the PT and RAI-R RMTS was 91.5%; 23.7% of PTs and 28.8% of RMTSs had positive ICS (positive PD-L1 tumor epithelial cells (TECs) and positive PD-L1/PD1 tumor-associated immune cells). ICS positivity of PTs was associated with pronounced oncocytic changes and high density of the p16INK4A-positive TECs in the invasive areas of PTs. In RMTSs, ICS positivity was associated with pronounced oncocytic changes and Ki-67 labeling index ≥ 4.5% of PTs, and the dominant solid-trabecular growth pattern, Ki-67 labeling index ≥ 7.6% and p16INK4A-positivity of RMTS. The findings are of clinical relevance and may be useful for developing individual treatment approaches for patients with RAI-R recurrent PTCs possibly involving immunotherapy.

An Update on the Genetics of Polycystic Ovary Syndrome

PCOS is a common endocrinopathy among women of reproductive age, with a worldwide prevalence of 8 to 13%, depending on the criteria used for diagnosis. It is characterized by a constellation of features, including oligo/anovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology. PCOS is one of the common causes of female infertility. It is also associated with metabolic derangements, including obesity, insulin resistance, and compensatory hyperinsulinemia, which increase the likelihood of developing type 2 diabetes mellitus. Despite extensive research, the etiology of PCOS remains largely unknown. It seems likely that the hypothalamic-pituitary-ovarian axis dysfunction, partial folliculogenesis arrest, insulin resistance, and ovarian and adrenal androgen secretion may play a role in the pathogenesis of PCOS. Familial clustering of the cases of PCOS points to a genetic component linked with it. The initial genetic studies suggest an autosomal dominant pattern of inheritance of the disorder in some families; however, most studies support multifactorial origin. Since PCOS is a complex trait, the typical form of inheritance of PCOS follows a non-Mendelian pattern and involves complex genetic mechanisms. Studies involving linkage and association have suggested a connection between genetic variations and the risk of developing PCOS in certain families or populations. Through genome-wide association studies and next-generation sequencing techniques, several candidate genes have been identified that play a role in the etiopathogenesis of the disorder. Pathogenic variants of various genes such as INSR, IRS1, GHRL, LDLR, MC4R, ADIPOQ, UCP1, UCP2, UCP3, FTO, PCSK9, FBN3, NEIL2, FDFT1, PCSK9, CYP11, CYP17, CYP21, HSD17, STAR, POR, AKR1C3, AMH, AMHR2, INHBA, AR, SHBG, LHR, FSHR, FSH β, SRD5A, GATA4, THADA, YAP1, ERBB2, DENND1A, FEM1B, FDFT1, NEIL2, TCF7L2, etc. in some PCOS cases are linked as underlying etiologic associations. This review aims to provide insight into the current genetic knowledge about PCOS. Discovering the genetic factors and pathways involved in the disorder will help us better comprehend the underlying mechanisms of the disorder.

Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study

Background: Collagen VI‐related disorder (COLVI‐RD) is one of the most common congenital muscular dystrophies. However, data is limited in China.Methods: We conducted a retrospective study at two tertiary centers. Clinical presentations, lab findings (including serum creatine kinase levels), muscle biopsy, and molecular test results for patients diagnosed with definite COLVI‐RD were collected.Results: A total of 82 patients were enrolled in the study, including 4 with early–severe Ullrich congenital muscular dystrophy (E–S UCMD) (4.8%), 45 with moderate–progressive Ullrich congenital muscular dystrophy (M–P UCMD, 54.9%), 19 with mild UCMD (23.2%), and 14 with Bethlem myopathy (BM, 17.1%). Feeding difficulty, DDH, and neurogenic damage were more common in E–S and M–P UCMD, while contracture of distal joints, atrophic scars, and hyperkeratosis was more prominent in mild UCMD and BM. Seventy patients harbored 64 pathogenic mutations in COLVI‐related genes: 28 patients in COL6A1 gene, 25 patients in the COL6A2 gene, and 17 patients in the COL6A3 gene, among which 33 mutations were novel. Missense and splicing mutations were predominant for COL6A1 and COL6A3 genes, which were mostly located in N‐terminus of THD, in a dominant pattern, while mutations in the COL6A2 gene were much more polymorphic, which spread throughout the whole length of the gene, in a dominant or recessive pattern. Immunofluorescence dual labeling of Collagen VI/IV in 44 patients showed complete deficiency of Collagen VI in 10 patients (22.7%), sarcolemma‐specific Collagen VI deficiency in 25 patients (56.8%), and normal Collagen VI staining in 9 patients (20.5%).Conclusion: Our study reported the largest cohort of COLVI‐RD in China, which showed M–P UCMD was the most common phenotype, followed by mild UCMD and BM. We identified 30 novel mutations and expanded the genetic spectrum. Missense and splicing mutations were predominant for COL6A1 and COL6A3 genes, while mutations in the COL6A2 gene were much more polymorphic. For severe phenotypes, most mutations are sporadic, while some are AD or recessive inherited. For milder phenotypes, sporadic and AD inherited were both common, while only 1 patient with recessive mutations was observed.

COVID-19 MANDATORY VACCINATION OF SPECIAL STATUS PUBLIC SECTOR EMPLOYEES. AN ANALYSIS OF REQUESTS FOR EXEMPTION IN THE US AIR FORCE

One of the largest public sector operations in the world is within the United States of America military, with over 2 million service members and approximately 1.4 million full-time equivalent civilian workers, with bases and operations in at least 80 different nations. The US military made COVID-19 vaccinations (COVAX) mandatory among all members but allows for requests to accommodate refusals for reasons of personal beliefs. These can be beliefs of conscience, personal morality or religious expression, whether from organized or individual tenets. Multiple articles have been produced during the COVID-19 pandemic identifying willingness to receive COVAX or reasons for COVAX reluctance and refusal, but almost all data has been obtained from short-response surveys. Taking a departure from that, this study reviews the qualitative data from over 100 extensive interviews conducted with individual military members (from the US Air Force) who requested COVAX exemption. Their reasons given to refuse vaccination are also provided in a letter written by the member, regardless of rank, directly to the general at the top of their particular command. Examination of the reasons given provides unique insights into the thought processes of requestors. Regardless of the request’s outcome, this data demonstrates the administrative and policy importance placed by the US military on at least considering personal beliefs, even in a pandemic, and protecting individual freedoms, even of military members with curtailed rights. By far, disproportionate requests came from lower ranks with some mid-level leadership making formal requests to refuse the COVAX. In this sample, no top leadership requested exemptions. The analysis finds evidence for pressure exerted on members to not submit an exemption request. For those who did, the 111 requests were not a static or set doctrinal view. Arising from at least 29 distinct religious traditions, all requests showed signs of an emerging or developing sense of belief praxis in the face of new situations. Other dominant patterns also emerged. The study found critical objections to the use of fetal stem lines in developing available vaccines and concerns about potential vaccine side effects to the requestor’s body. Trust in the process and a sense of autonomy in participation also were found to be critically import to most requests.

NEURALGIČNOST IZMEĐU ORALNE ISTORIJE I ISTORIOGRAFIJE NA PRIMERU DRUGOG SVETSKOG RATA NA KOSOVU I METOHIJI: STUDIJA SLUČAJA ORAL HISTORY KOSOVO

Albanians, interlocutors of the Oral History Kosovo project, most of whom are contemporaries of the Kingdom of Yugoslavia and the war period, have a negative memory of the Kingdom. They state that Albanians were victims of agrarian policy / colonization and forced emigration, that is, that they were prevented from normal cultural development by denying them the right to education in their mother tongue. However, the facts show that much less land was taken from the Albanians for the purposes of agrarian reform / colonization than they think, then that emigration to Turkey was on a smaller scale due to the inability of the state to finance it and, finally, that the Albanian minority had the right to education in the mother tongue exclusively in private schools, which was the dominant pattern in many European countries (and in Albania for the Slavic minority). The Albanians, the interlocutors admit, welcomed the occupiers, the Germans and Italians, as liberators, because they freed them from the hated Serbian administration and enabled them to be educated in their mother tongue, in which “Greater Albania” was promoted unhindered. After all, the period of occupation was a time of absolute Albanian domination over the Kosovo Serbs, as evidenced by numerous crimes committed against them. On the other hand, there are numerous Albanian testimonies about the alleged crimes of the communist regime against the defeated Albanians-ballists in 1944–1945. and the newly mobilized Albanians in Bar in 1945. The interlocutors do not make an ideological difference between Serb-chetniks and Serb-communists, treating them simply as Serbs and as such fitting them into the archetype of the enemy who is “taking” Kosovo from them. Also, those Albanians in the service of the occupiers are perceived as fighters for the national cause. That nazism and fascism were not definitively eradicated in Kosovo in 1944 is also evidenced by the later coquettishness of the communist system and the ideologically defeated Albanian movements in Kosovo.

Woody plant species richness and productivity relationship in a subtropical forest: The predominant role of common species.

A long-standing key issue for examining the relationships between biodiversity and ecosystem functioning (BEF), such as forest productivity, is whether ecosystem functions are influenced by the total number of species or the properties of a few key species. Compared with controlled ecosystem experiments, the BEF relationships in secondary forest remain unclear, as do the effects of common species richness and rare species richness on the variation in ecosystem functions. To address this issue, we conducted field surveys at five sampling sites (1 ha each) with subtropical secondary evergreen broad-leaved forest vegetation. We found (1) a positive correlation between species richness and standing aboveground biomass (AGB); (2) that common species were primarily responsible for the distribution patterns of species abundance and dominance; although they accounted for approximately 25% of the total species richness on average, they represented 86-91% of species abundance and 88-97% of species dominance; and (3) that common species richness could explain much more of the variation in AGB than total species richness (common species plus rare species) at both the site and plot scales. Because rare species and common species were not equivalent in their ability to predict productivity in the biodiversity-ecosystem productivity model, redundant information should be eliminated to obtain more accurate results. Our study suggested that woody plant species richness and productivity relationship in subtropical forest ecosystem can be explained and predicted by a few common species.

Intersexual relationships in mandrills: dominance, sexual conflict and the influence of social integration

The conflict of evolutionary interests between the sexes is commonly imprinted in social dynamics and physical asymmetries between the sexes. In species that live in polygynandrous groups, male-biased sexual size dimorphism often allows males to socially dominate and sexually coerce females. Yet, smaller female size might allow females to escape from males and female philopatry might promote female-female social support allowing females to resist or retaliate against males. The study of such intersexual conflicts is highly relevant in mandrills (Mandrillus sphinx) as they form large polygynandrous groups and exhibit extreme male-biased sexual dimorphism in size and ornaments, higher social integration of females than males, and female coalitions against males. The set up of Mandrillus Project over a decade ago has offered a unique opportunity to study intersexual relationships of mandrills in their natural habitat. Here, I present a synthesis of some recent studies that used the long-term behavioural and life-history dataset of Mandrillus Project and documented patterns of sexual coercion and intersexual dominance in mandrills. These studies show that male mandrills are generally dominant over females and use sexual coercion to increase their mating success. However, female social bonds and social integration permit females to occasionally outrank certain males. Finally, and surprisingly, higher-ranking and more socially integrated females receive higher rates of male sexual coercion, highlighting the need for future research to shed light on the trade-offs between costs and benefits of mandrill sociality.

Benthic and fish community composition on mesophotic reefs in Grand Cayman.

Mesophotic Coral Ecosystems (MCEs) represent unique ecological habitats that range from 30 to 150 m deep, harbouring phylogenetically distinct species and offering refuge for many taxa during times of environmental stress. Yet owing to inaccessibility of ecosystems at these depths, most MCEs remain unexplored, with quantifications of ecological communities in these habitats lacking across many regions. Here, using open- and closed-circuit technical diving, we quantified benthic and fish community composition at four mesophotic reef sites (45 m depth) in Grand Cayman. We show significant differences in benthic community composition over a small spatial scale driven by disparate coverage of sponges, crustose coralline algae, and sand/rubble, yet consistent patterns of macroalgal dominance representing >50% coverage at each site and low hard coral cover at an average of 2.4%. Reef fish species richness, biomass, and density was consistent across sites, however the relative contribution of individual species to community composition differed significantly. Macrocarnivores were found to be the dominant contributors to biomass, with invertivores the most speciose, and omnivores and planktivores at the highest densities, consistent with previous descriptions of mesophotic fish assemblages in other regions. Similarly, the low hard coral cover and high macroalgae and sponge cover of the benthic communities also appear ecologically similar to several described mesophotic reefs yet is not uniform across the Caribbean. The ecological organisation of Grand Cayman's MCEs may result from a variety of factors such as isolation from other major land masses, geology, local geography, and anthropogenic activity at both the local and global scale and highlight the importance of continued exploration and documentation of MCE communities.

Вестиментарная стратегия фильма и этические ценности времени

Introduction. The intensity of the visual media influence in the format of films and TV series on cultural life, reaching its peak in the era of streaming television, poses the task for the humanities to study the visual type of thinking, visual consciousness, which is different from the classical visualization of verbal thinking in the plastic arts. If a researcher intends to derive from a film or TV series, a value system, a cognitive strategy that is relevant for its time, the visual environment may turn out to be no less eloquent for him than the dramatic action taking place in it. The character and quality of this environment are made up of many sensory elements: light, color, movement and its choreography, sound, space, subject referents, etc. Taken together, they represent not so much an articulation of the author’s thought, but a way of specifically visually thinking through this thought. The complex structure of visual-mental environments requires extensive and systematic research work. In this article we take one of the most obvious substantive aspects of the visible: the vestimental strategy of the film. The purpose of the article is to identify patterns marked by subject (vestimentary) characteristics that are redundant in relation to the dramatic action by comparing the visual environments of films from different decades of the 20th century; using the code of cultural universals that assign the function of sociocultural and ethical regulation to the concept of “clothing” [1; 3; 5; 10; 15], to identify the meaning of these patterns in the context of the ethical thinking of the era. Methods. During the study, the authors use general scientific methods of analysis and synthesis; the method of phenomenological reduction, which makes it possible to record the sensory qualities of object-spatial screen environments; a hermeneutical method that allows, on the basis of visible sign structures, to identify the essential intentions of a visual image. In view of the task, it turned out to be necessary to involve some concepts of narratology (in particular, the concept of focalization) and methods of corpus analysis adopted in linguistics. The scientific novelty lies in the fact that we approach the visual source from a philosophical and cultural perspective, considering the visual environment of the film as a form and method of actual sociocultural or philosophical thinking, which has specific (visual) tools. This approach allows us to draw conclusions based not only on individual films, but also on large source databases. Results. During the analysis, the authors applied the tools of modern visual studies and the conceptual basis of socio-philosophical ethics to cinematic texts of the 20th century. This made it possible to discover visual patterns common to films of some decades of the 20th century, namely: the 1930s, 1950s, 1990s, and connect them with the ethical issues of time. Conclusions. Analysis of source databases that include cinematic texts can be carried out through a systematic analysis of the visual environments presented on the screen. At the same time, dominant visual patterns characteristic of a particular era can be identified and described. Such a dominant determines the emphasis in the figurative whole and reveals important aspects of philosophical and cultural thought relevant for its time, including ethical thought.

Varijante u GATOR1 genima u fokalnoj epilepsiji

Significant genetic contributions to focal epilepsy have only recently been recognized, despite the well-established hereditary nature of other epilepsy syndromes. In 2013, the significant role of the DEPDC5 gene in a rare familial focal epilepsy syndrome was described, followed by the discovery of variants in NPRL2 and NPRL3 genes in patients with similar clinical features three years later. The genes listed above code the three subunits that comprise the GTPase-activating protein (GAP) activity towards Rags 1 (GATOR1) complex, a negative regulator of the mechanistic target of rapamycin (mTOR) complex 1 (mTORC1). Loss of function of GATOR1 leads to constitutive mTORC1 activation that is linked to various malformations of cortical development (MCD), most notoriously focal cortical dysplasia (FCD), but has also been linked to epilepsy in the absence of overt MCD. Variants in GATOR1 genes have been detected in multiplex families with rare familial focal epilepsy syndromes where they demonstrate an autosomal dominant inheritance pattern with reduced penetrance. More recently, they have also been defined as major contributors in common nonacquired focal epilepsy in which they are detected in 3% of familial and 0.2% of sporadic cases and are particularly common in familial epilepsy associated with FCD where up to 11% of affected subjects carry gene variants. Clinical features of carriers include a propensity for nocturnal seizures, a poor response to antiseizure medication as well and an increased risk of sudden unexpected death in epilepsy, which is why other forms of treatment have been explored, including epilepsy surgery after which GATOR1 gene variant carriers have similar outcomes to other patients with focal epilepsy. A particularly promising avenue of exploration is the utilization of mTOR inhibitors like everolimus in epilepsy treatment, but further investigation into this option is warranted.

Quantitative and Qualitative Characteristic of Thin and Fat Tailed Sheep

This study aims to determine the Quantitative and Qualitative Characteristic of Thin and Fat Tail Sheep. The study starts from August 2023 until December 2023 in PT Juara Agroniaga Sejahtera, Jepangrejo Village, Blora City District, Blora Regency. The material used in this study was 39 Thin-tailed Sheep and 28 Fat-tailed Sheep aged 1-2 years. The variables measured where Quantitative data were body height (BH), body length (BL), chest circumference (CC), body weight (BW), and Qualitative data were fur color and horn. Data were analyzed using the Pearson correlation, and regression method. The results of this study showed that the correlation between body height (BH), body length (BL), chest circumference (CC) with body weight (BW) in DET and DEG were 0.62, 0.71, 0.72, 0.27, 0.69, 0.65 respectively. The results of this study showed that the regression between body height (BH), body length (BL), chest circumference (CC) with body weight (BW) in DET and DEG were BW = -14.03 + 0.71 BH; BW = -15.45 + 0.74 BL; BW = -21.95 + 0.65 CC and BW = 8.69 + 0.33 BH; BW = -6.76 ± 0.59 BL; BW = -19.43 ± 0.65 CC respectively. The results of this study showed that the dominant wool color pattern of DET is single white, 74.36% white, 15.38% black, and 5.13% brown and DEG is single white, 67.86% white, 14.29% black, and 7.14% brown. DET was 2.56% with horn then 97.44% without horn and DEG is 100% without horn.