Genetic Profile and Clinical Implications of Hepatoblastoma and Neuroblastoma Coexistence in a Child

The aim of the following case report is to provide a description of the coexistence of two independent tumors in a child. A 9-month-old male was referred to Department of Pediatric Oncology and Hematology with hepatic tumor present on ultrasound imaging and symptoms of enlarged abdominal circumference. Physical examination revealed a palpable epigastric mass and the imaging techniques showed a tumor of the left hepatic lobe measuring 11 × 6.5 × 8.9 cm with pancreas infiltration, distant metastases in both lungs and abnormal lesion in the left adrenal gland. Basing on histopathological examination, after a core-needle biopsy, hepatoblastoma (HBL) (mixed epithelial-mesenchymal subtype) was diagnosed. The α-fetoprotein level was 112 993 ng/ml. Elevated values of normetanephrine, 3-methoxytyramine as well as neuron-specific enolase were observed. Due to the clinical picture and diagnosis, the patient was qualified to preoperative chemotherapy according to the SIOPEL-3 protocol, followed by SIOPEL-4 protocol for the high-risk patients. After undergoing preoperative chemotherapy, imaging tests revealed regression of hepatic tumor and no focal pulmonary masses, while regression of adrenal gland mass was not completed. The patient was qualified for left hemihepatectomy with left adrenalectomy. Histopathological examination of liver specimen confirmed the HBL diagnosis. However, in left adrenal gland and paraaortic lymph nodes the residual neuroblastoma (NBL) cells were detected. Whole exome sequencing (WES) was utilized to identify disease-associated germline mutations. WES revealed a novel germline insertion variant in TWIST1 (p.Gly86dup), along with the potentially pathogenic non-synonymous variants in NF1 (p.Val2511Ile), RAF1 (p.Leu445Arg), and WHSC1 (p.Ser4Asn) genes. Currently, 6 months after completion of treatment according to the SIOPEL-4 protocol, the patient is in good general condition, without any signs, and symptoms of relapse of both neoplasms. The coexistence of two different primary childhood malignancies is rarely seen. So far, only one case of synchronous HBL and NBL has been reported. However, for the first time therapeutic process was successful. A specific signature of rare germline mutations can be proposed as a predisposing factor to synchronous HBL and NBL occurrence

Monitoring Functional Capability of Individuals with Lower Limb Amputations Using Mobile Phones

To be effective, a prescribed prosthetic device must match the functional requirements and capabilities of each patient. These capabilities are usually assessed by a clinician and reported by the Medicare K-level designation of mobility. However, it is not clear how the K-level designation objectively relates to the use of prostheses outside of a clinical environment. Here, we quantify participant activity using mobile phones and relate activity measured during real world activity to the assigned K-levels. We observe a correlation between K-level and the proportion of moderate to high activity over the course of a week. This relationship suggests that accelerometry-based technologies such as mobile phones can be used to evaluate real world activity for mobility assessment. Quantifying everyday activity promises to improve assessment of real world prosthesis use, leading to a better matching of prostheses to individuals and enabling better evaluations of future prosthetic devices.Max Nader Center for Rehabilitation Technologies and Outcome

Topic Modelling and Data Analysis: Impact of using topic modelling on game review

Purpose–The purpose of this thesis is to investigate the game reviews and to see how the natural language processing can be used to analyze game reviews. Using Steam platform as our data source and Latent Dirichlet Allocation as one of the main methods of data analysis in this research there will be attempt to figure out what kind of topics will emerge within and how interpretations of these can be used to see the correlation between game updates and game reviews. All these results will be looked throughout the timeframes of the life of the game, from alpha/beta testing to the most current reviews. Design/Methodology/Approach–Within this research Latent Dirichlet Allocation will be used on five different games from multiple different genres to test our hypothesis. Findings–The findings of this research could be used by the fields of both data analysis and game studies as this research contributes towards these areas. It is believed that this research will show how the game reviews can be interpreted and give ideas to further research. Practical implications–In theory this research will heavily be based on opinions of both players/people who left the reviews and a researcher hence these should not be treated as a fact. As there are many factors that could affect the quality of the reviews, there will be taken careful measures to eliminate these one by one (such as length of the reviews, duplicates. Etc.)Originality/value–This research should stimulate the game producers and developers to see a different aspect of the games and allow for better decision making. Key Questions–How natural language processing can be used to analyze this data? How will LDA and LDA Sequential contribute to analysis of Steam reviews? How does pre-processing change the results of the LDA and LDA Sequential? What is the correlation between the game updates and game review analysis results

Clinical characteristics and long-term outcomes of MINOCA accompanied by active cancer. A retrospective insight into a cardio-oncology center registry

BACKGROUND: Clinical characteristics and long-term outcomes of patients with myocardial infarction with non-obstructive coronary arteries (MINOCA) and cancer are insufficiently elucidated. OBJECTIVES: We sought to characterize these patients hospitalized in a tertiary cardio-oncology center and to find the potential determinants affecting their long-term mortality. METHODS: MINOCA was diagnosed in 72 of the 1,011 patients with consecutive myocardial infarction who underwent coronary angiography. Mortality rates and their determinants were analyzed within a median follow-up of 69.2 (37.8–79.9) months. RESULTS: Active cancer was identified in 21 (29.2%) of patients with MINOCA and in 113 (12.0%) patients with myocardial infarction and obstructive coronary artery disease (MI-CAD) (p < 0.001). MINOCA patients with cancer were characterized by a higher incidence of anemia (47.6 vs. 21.6%, p = 0.03) and more frequently Takotsubo syndrome (19.1 vs. 2.0%, p = 0.01) than in non-cancer MINOCA. The troponin T/hemoglobin ratio was higher in both cancer MINOCA and MI-CAD groups when compared with their respective non-cancer patients (both p < 0.05). The age and sex-standardized mortality rates were significantly higher in cancer MINOCA (26.7%/year) when compared with non-cancer MINOCA (2.3%/year, p = 0.002) and in cancer MI-CAD (25.0%/year) vs. non-cancer MI-CAD (3.7%/year, p < 0.001). Active cancer (HR 3.12, 95% CI 2.41–4.04) was independently associated with higher long-term mortality, while higher hemoglobin levels (HR 0.93, 95% CI 0.88–0.99, per g/dl) and a MINOCA diagnosis (HR 0.69, 95% CI 0.47–0.97) improved long-term survival. CONCLUSION: Patients with MINOCA were comorbid with cancer more frequently than MI-CAD. In turn, an active malignancy was associated with an unfavorable long-term survival both in MI-CAD population and in patients with MINOCA