Abstract Body Genome-wide Association Studies in Psychiatry - Current Perspectives Last decade was exciting time for human genetic studies. Genome-wide association studies (GWASs), used to examine the association of genotyped variants across the entire genome and common complex phenotype(s), have led to many findings. Currently, GWAS Catalogue has collected 4,809 publications and 227,262 associated variants. In recent years, psychiatric genetics has enjoyed some success in discoveries of associated variants. This mostly happened because researchers were able to unite and generate large sample sets of patients and healthy controls in big consortia. As a result of large sample sizes becoming available for meta-GWASs, some of the first genome-wide significant loci in psychiatric and related neurodevelopmental traits were detected. However, most of the large-scale genetic studies are done primarily on European population and GWASs have huge diversity problem. Performing trans-ethnic GWASs on psychiatric traits can help us discover more associated variants. Another advantage of bringing many datasets together into large-scale meta-analyses is the ability to conduct cross-disorder studies. This is possible to be done on psychiatric traits since many of them share genetic liability. However, little research has been conducted on the genetic differences between related psychiatric traits. Identifying disorder-specific variants remain important open question. In this presentation we will bring an update of recent findings and current state of the art methods and analyses. Disclosure No significant relationships.
OBJECTIVE To present the characteristics of the AKT1E117K gene variant and a description of the clinical application in a patient with metastatic breast cancer. RESULTS 63 y/o woman with Stage IV Invasive lobular carcinoma at diagnosis was treated with Palbociclib and aromatase inhibitors (AI). At progression, tissue was sent for comprehensive genomic profiling to Foundation Medicine (FM) which revealed AKT1E17K mutation. In lieu of available clinical data within the patient's tumor type (HR+ HER2- breast cancer), extrapolated data from the Flatiron Health-FM (FH-FMI) Clinico-genomic Database (CGDB) was discussed at our Molecular Tumor Board (MTB). After multidisciplinary discussion, the consensus recommendation was to start treatment with the combination of mTOR inhibitor everolimus, and AI, exemestane. Patient tolerated treatment without major side effects. By the second clinical visit the patient's breast showed signs of improvement. PET/CT showed diminished left axillary uptake, decreased right paratracheal lymph node PET avidity, and stable bone disease consistent with a partial response. The most recent office visit in January 2021, breast exam revealed a normal-appearing skin with only faint erythema. All other skin lesions have resolved. Although, the role of AKT1 variant described here is not well defined and therapeutic significance of M-Tor inhibitors not established in metastatic breast cancers, comprehensive approach to this case unraveled new and successful therapeutic option in this patient. CONCLUSION This demonstrates that applying available Precision Medicine tools like MTB and real world data sets from patient populations with similar clinical and genomic profiles may provide more options for treatment.
A 65-year-old woman with a negative family history of breast cancer presented with a palpable mass in the left breast’s central portion. Mammography revealed an oval heteroechogenic, partly solid, partly cystic, sharply demarcated mass, measuring 100×90 mm in greatest diameter, classified as BI-RADS 4c, according to ACR BI-RADS Atlas Fifth Edition (Figure 1A-B). Breast MRI showed a lobulated mass with smooth margins appearing hypointense on T1WI and high signal intensity on T2WI (Figure 1C-D). A core needle biopsy revealed a cellular neoplasm, composed of small, closely packed tubules with spindle cell intervening stroma without prominent atypia and mitotic activity, classified as B3 category according to the UK National Coordinating Committee for Breast Screening Pathology (Figure 2A). The multidisciplinary tumor board discussed the case and recommended a wide surgical excision. With the patient’s approval, a left mastectomy was recommended and performed. The axillary clearance was not performed. The 100×90 mm tumor was grossly well-circumscribed, grayish-white, and predominantly solid, with a smaller cystic component, without necrosis and hemorrhage (Figure 2B). Histopathologic examination revealed a well-circumscribed tumor with two distinct components (tubular adenoma and phyllodes tumor) with the transition to one another (Figure 2C). The larger portion of the tumor was composed of closely packed small round to oval tubules with little intervening spindle cell stroma consistent with tubular adenoma. The smaller component showed a biphasic fibroepithelial tumor with leaf-like projections with moderately cellular stroma (Figure 2D-E). The stromal cells exhibited mild to moderate atypia, and their mitotic activity was up to six mitoses/10 hpf (Figure 2F). Stromal overgrowth was absent, while the malignant heterologous elements were not observed despite the exhaustive tumor sampling (25 paraffin blocks). The final diagnosis was a complex fibroepithelial tumor composed of borderline phyllodes and tubular adenoma. Clinical Science
Unmanned aerial vehicle (UAV) assisted wireless caching networks (WCN) have been recognized as a promising way to reduce the network load and improve the energy efficiency in the sixth generation (6 G) communication systems. Aiming to improve spectrum efficiency and system capacity, we apply non-orthogonal multiple access (NOMA) in UAV-assisted WCN to serve multiple users on the same spectrum simultaneously and propose the cross-layer resource allocation strategy including the scheduling of UAVs, the grouping of users, and the allocation of power. First, the $\rho$-K-means algorithm is proposed to assign users to multiple clusters and deploy UAVs according to the distance from UAVs to the base station in the UAV deployment layer. Then, the base station broadcasts the popular files to UAVs via NOMA in the content placement layer. Based on the existing fixed power allocation strategy, we propose a statistic quality of service (QoS) based fixed (SQF) power allocation method to take the statistic QoS of the popular files into consideration and improve the energy efficiency through introducing the discount factor. On the basis of SQF, an instantaneous QoS based adaptive (IQA) strategy allocates power according to the instantaneous QoS of the popular files to reduce the file outage probability. Furthermore, we propose an improved method that is a cross-layer based optimal (CLO) power allocation strategy to maximize the system hit probability. Finally, in the content delivery layer, users in each cluster are grouped according to the channel gain from users to UAVs. In addition, each UAV serves two users on the same time-frequency resource block based on the cognitive radio inspired power allocation for the NOMA user pairs. Simulation results confirm that the proposed $\rho$-K-means algorithm and CLO strategy reduce the file outage probability and improve the hit probability.
This year the journal "Medical Archives" celebrates 75 year of existing. "Medicinski Arhiv/Medical Archives" was founded in 1947 as official journal of the Association of Physicians (Sabor ljekara Bosne i Hercegovina) of Bosnia and Herzegovina and the first Editorial board was consisted of academicans: Vladimir Cavka (Professor of Oftalmology), Blagoje Kovacevic (Professor of Surgery), Bogdan Zimonjic (Professor of Internal medicine), and Ibro Brkić (Professor of Internal medicine). Exactly the Medical Archives journal was a key milestone that helped in education of all academic and professional staff that became the foundation of Bosnian and Herzegovinian medicine as a science and health care as a profession. Medicinski Arhiv was included in largest bimedical database Medline in 1947 and till now in that database is deposited more than 7000 papers. Also this journal has highest h-Index in Scopus database ranked by SCImago rank. In Medicinski Arhiv journal authors from more than 60 countries from whole the world published their papers, some of them with very high Scopus h-Index.
Polygonum aviculare and Persicaria amphibia (subfam. Polygonoideae) are used in traditional cuisines and folk medicine in various cultures. Previous studies indicated that phytochemicals obtained from Polygonoideae plants could sensitize chemoresistant cancer cells and enhance the efficacy of some cytostatics. Here, the cytotoxic properties of chemically characterized ethanol extracts obtained from P. aviculare and P. amphibia, individually and in combination with doxorubicin (D), were determined against hepatocarcinoma HepG2 cells. Phenolic composition, cell viability, cell cycle, apoptosis, and the expression of Keap1 and Nrf2 were examined by following methods: LC-MS/MS, LC-DAD-MS, MTT, flow cytometry, and qRT-PCR. Extracts were rich in dietary polyphenolics. Synergistic cytotoxicity was detected for extracts combined with D. The observed synergisms are linked to the interference with apoptosis, cell cycle, and expression of Keap1-Nrf2 genes involved in cytoprotection. The combined approach of extracts and D could emerge as a potential pathway of chemotherapy improvement.
Background: Infantile hemangiomas (IH) are the most common vascular, benign tumors of childhood with a prevalence of 4-5%. Due to intense vasculogenesis, they proliferate during infancy, then involute at an unpredictable rate, extent of involution, and quality of residual tissue. Depending on the location, they may be associated with anomalies of other organ systems (PHACE, PELVIS syndroms). In recent decades, knowledge about hemangiomas has improved, and therefore therapeutic possibilities have improved. Today, the non-selective beta blocker–propranolol is considered the drug of first choice in the treatment of infantile hemangiomas. It is desirable to start treatment in the proliferative phase of hemangioma growth for the best possible effect. The dynamics of drug administration, time interval of dose increase and monitoring of patients during treatment vary from one Institution to another and are still the subject of discussion. Objective: We presented the case of a child with infantile hemangioma of the lumbo-sacral region, treated with combination therapy with systemic propranolol and topical timolol, with satisfactory effect in the end. Conclusion: Propranolol is considered a drug with well-studied side effects and a safety profile. During 6 months of treatment, it leads to complete or almost complete withdrawal of the hemangioma. Treatment should be started in the hemangioma proliferation phase for the best possible therapeutic effect.
Backgroud: Intervertebral disc herniations are caused by rupture of the fibrous ring and migration of one part of the nucleus pulposus towards the spinal canal. The most commonly affected levels are C5-C6 and C6-C7. Surgical treatment of cervicobrachialgia is indicated in the presence of long-term intense pain syndrome with or without radicular sensory-motor deficit and magnetic resonance (MRI) verified disc herniation with a compressive effect. Objective: The most common surgical treatment is anterior lateral microdiscectomy with or without the use of implants. In addition to this method, dorsolateral microsurgical treatment can be used for foraminal hernias. Methods: This retrospective study included 110 (58 / 52.7% male and 52 / 47.3% female) patients with cervical disc herniations who were surgically treated at the Neurosurgery clinic of Clinical Center of Sarajevo University (CCUS) in a five-year period. Stability, postoperative curvature, arthrodesis, implants, and changes in adjacent segments were radiographically analyzed. In the outcome assessment, functional outcome and patient satisfaction were analyzed using the Pain Self-Evaluation Scale (VAS), Prolo functional and economic score, and White’s classification of treatment outcomes. Results: The dominant prevalence of changes was recorded at the levels of C5-C6 (58%) and C4-C5 (28%) with a ventrolateral approach performed in 90% of patients. The largest representation is hard dorsolateral discs (n = 77). In the group of patients with placed implant, hard discs were present in 96 (90%) cases (p <0.001), while soft discs were dominant in patients without implant placement (p <0.001). In the group of subjects with implant, the most common are hard dorsolateral discs and those of mixed localization in 41 of 55 patients (65.5%; p = 0.001). The most common implant is PEEK cage (74.5%). From complications, we had partial vertebral body fractures in 4.5% of patients. Furtehr, the most common are sensory disturbances in 2.73% of respondents. Reduction of symptoms and improvement of preoperative neurological status were observed in over 95% of patients. Conclusion: Surgical treatment of cervical disc herniation is a safe method with a minimal percentage of complications. Microsurgical discectomy significantly contributes to the improvement of the functional status of patients, the reduction of pain, and the improvement of neurological deficit and overall mobility.
ABSTRACT Two cases are presented with coronavirus disease 19 (COVID-19)-related hiccups: one during initial presentation and one 10 days after COVID-19 diagnosis. Hiccups in both patients were resistant to treatment and responded only to chlorpromazine. COVID-19 patients may present with hiccups and also may have hiccups after treatment. Resistant hiccups without any underlying disease other than COVID-19 should be considered in association with COVID-19 and may respond well to chlorpromazine.
Purpose: The primary purpose of this paper is to identify the most important factors related to the successful implementation of TQM in the literature and to compare the identified factors with the existing research. Methodology/Approach: By conducting a systematic literature review in three main stages, this research analyzes 13 empirical papers published between 1995 and 2017. Three main stages included: formulation of the problem to be solved by the systematic literature review; definition of inclusion criteria and exclusion of articles; and article search and selection. Findings: Analysing previous research and conducting a literature review, we identify six main critical success factors (CSF): top management leadership and commitment, customer focus, training (employees), procurement management (suppliers), information and analysis, and process management. Research Limitation/Implication: In this paper, we focused solely on the influence of TQM practices on the financial performance of a company. As such, the non-financial performance indicators were not considered. Originality/Value of paper: This paper adds value to the existing literature as it focuses on critical factors of TQM implementation examined in relation to the financial performance of the company and provides a good basis for understanding and developing more complex models. Category: Literature review
: A música popular é um artefato midiático através do qual são tramitados socialmente conceitos, valores, atitudes e estratégias de identidade individual e coletiva. Através das letras, podemos refletir sobre assuntos importantes, nos emocionamos, reconhecemos a uma identidade cultural. Na música universal, temas que vão desde o amor à exploração do trabalho se presentificam, e a identidade dos imigrantes fica de fora do escopo temático das canções. Este trabalho é uma relação entre as áreas de Língua Inglesa, uma vez que todas as canções estudadas são deste idioma, é de Língua Portuguesa, na questão da interpretação e análise de construção do sentido. Assim, para compreender um pouco mais da identidade dos imigrantes e demais aspectos sociais elucidados pela linguagem, esta pesquisa se propôs a investigar como se dá a construção de sentido das canções que trazem à luz o universo do povo imigrante. Esta pesquisa tem por natureza ser qualitativa. Em primeiro lugar, investigaremos as dentre as mais tocadas do cenário pop internacional nos últimos 20 anos que elucidam, de alguma maneira, a identidade dos imigrantes. Inicialmente, investigaremos canções de sucesso mundial, de grandes artistas ou bandas reconhecidas internacionalmente, que são facilmente reconhecidas pelo público. Para análise da construção de sentido, privilegiaremos o domínio conceptual básico do frame. Estes tipos frame são associados a expressões ou a itens lexicais e, ao se relacionarem com outros frames, auxiliam na construção do significado. Ao associarmos os itens lexicais “flores”, “choro” e “caixão”, elucidamos o frame de velório, por exemplo. A partir dos critérios definidos pela pesquisadora bolsista, que buscou pelas músicas mais tocadas na plataforma YouTube, chegamos às seguintes canções para compor o corpus desta pesquisa: a) Immigrant Song, Led Zeppelin; b) American Oxygen, Rihanna; c) Prayer of the Refugee, Rise Against, d) Immigration Man, Crosby & Nash, e) Ellis Islans, Mary Black, f) America, Neil Diamond, g) Immigration Blues, Chris Rea, h) City of Immigrants, Steve Earle e i) The Refugee, U2. Tomando como base os elementos analisados, é possível afirmar que a figura imigrante é uma figura submissa a condições sociais e de gênero. É um ser que não tem o domínio de seu próprio destino e que aguarda sempre a chegada de outra pessoa, pela indefinição tonal, que espessa toda uma ampla gama de transferências interpretativas, colaborando densa e criticamente para o pensamento recente sobre imigração no país.
O trabalho tem como objetivo pesquisar os APLs de Gemas e de Joias na Região Metropolitana do Distrito Federal e verificar a possibilidade e o interesse na criação de uma Indicação Geográfica para esse setor. No decorrer da pesquisa, bibliográfica e qualitativa, foi detectado que no DF existia inicialmente um APL de gemas e de joias que foi desativado, permanecendo o APL de Gemas e de Joias da Região Metropolitana do DF em Cristalina (GO). São analisados os destaques e as tendências do mercado de joias no Brasil. A coleta de dados se deu por meio de entrevistas, observação não participante e análise documental. Como resultado preliminar, verificou-se que existem muitos problemas a serem superados, como a questão da organização das associações, da diversificação dos fornecedores pela rapidez de produção e dos acordos sobre concorrência que comprometem a qualidade dos produtos. Foi evidenciada também a falta de incentivos fiscais para o crescimento do setor na Região.
O atual cenário da engenharia brasileira tem requerido esforço maior de todas as áreas para que sejam operados projetos em BIM (Building Information Modeling). No país, o uso da plataforma BIM ainda não é unanimidade no âmbito da infraestrutura rodoviária, mesmo diante dos benefícios adicionais que esta apresenta em relação a outras formas de projeção consideradas ultrapassadas. Mas já existem iniciativas previstas, como é o caso de uma sequência de projetos pilotos definida pelo Departamento Nacional de Infraestrutura de Transporte (DNIT) em busca do aperfeiçoamento dos profissionais envolvidos no projeto para que dentro de alguns anos todos os processos em questão aconteçam a partir da modelagem da informação da construção de forma obrigatória (Silva, 2018).
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