Miracle-dz/UniFAR-FTUs huggingface dataset:
Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.

Importance Retinoblastoma (RB) is the most common pediatric intraocular neoplasm. RB is a complex model in which atypical pathogenic variants, modifier genes, imprinting, and mosaicism are known to be associated with the phenotype. In-depth understanding of RB therefore requires large genotype-phenotype studies. Objective To assess the association between genotype and phenotype in patients with RB. Design, Setting, and Participants This single-center, retrospective cohort study, conducted from January 1, 2000, to September 30, 2017, enrolled 1404 consecutive ascertained patients with RB who consulted an oncogeneticist. All patients had their genotype and phenotype recorded. Statistical analysis was performed from July 1, 2018, to December 31, 2018. Main Outcomes and Measures RB1 germline and somatic pathogenic variant types, family history, and disease presentation characteristics (ie, age at diagnosis, sex, laterality, and International Intraocular Retinoblastoma Classification group). Results Among 1404 patients with RB (734 [52.3%] female; mean [SD] age, 20.2 [21.2] months), 866 cases (61.7%) were unilateral and 538 cases (38.3%) were bilateral. Loss of function variants were found throughout the coding sequence, with 259 of 272 (95.2%) somatic pathogenic variants and 537 of 606 (88.6%) germline pathogenic variants (difference, 6.6%; 95% CI, 4.0%-9.2%; P < .001) after excluding tumor-specific pathogenic variants (ie, promoter methylation and loss of heterozygosity); a novel low-penetrance region was identified in exon 24. Compared with germline pathogenic variants estimated to retain RB protein expression, germline pathogenic variants estimated to abrogate RB protein expression were associated with an earlier mean (SD) age at diagnosis (12.3 [11.3] months among 457 patients vs 16.3 [13.2] months among 55 patients; difference, 4 months; 95% CI, 1.9-6.1 months; P = .01), more frequent bilateral involvement (84.2% among 452 patients vs 65.2% among 45 patients; difference, 18.9%; 95% CI, 14.5%-23.3%; P < .001), and more advanced International Intraocular Retinoblastoma Classification group (85.3% among 339 patients vs 73.9% among 34 patients; difference: 11.4%; 95% CI, 6.5%-16.3%; P = .047). Among the 765 nongermline carriers of an RB1 pathogenic variant, most were female (419 females [54.8%] vs 346 males [45.2%]; P = .008), and males were more likely to have bilateral RB (23 males [71.4%] vs 12 females [34.3%]; P = .01). Conclusions and Relevance These results suggest that RB risk is associated with the germline pathogenic variant and with maintenance of RB protein and that there is a sex-linked mechanism for nongermline carriers.
Relationship between the Monocyte Chemo-attractant Protein-1 gene rs1024611 A>G Polymorphism and Cancer Susceptibility: A Meta-analysis Involving 14,617 Subjects

ABSTRACT Background Inflammatory and inducible chemokines are the hallmarks of malignancy. Monocyte chemo-attractant protein-1 (MCP-1) is a crucial chemokine implicated in infection and inflammation. Methods: We performed an updated meta-analysis of thirty independent case-control studies with 6,777 cancer cases and 7,840 controls to determine if the MCP-1 gene rs1024611 A > G variant is associated with the risk of cancer. Results: The G allele carriers of rs1024611 in the MCP-1 gene might have a null association with cancer risk in overall comparison. In a subgroup analysis by ethnicity, we identified a marked association between the MCP-1 G allele rs1024611 polymorphism and cancer risk in the Caucasian populations (GG vs. AA: OR = 1.72, 95% CI, 1.12–2.64, P = .013, and GG vs. AG/AA: OR = 1.82, 95% CI, 1.19–2.78, P = .006). The potential bias in literature selection was witnessed in this meta-analysis (G vs. A: P Begg’s = 0.187, P Egger’s = 0.049; and GG/GA vs. AA: P Begg’s = 0.069, P Egger’s = 0.024). The adjusted ORs and CIs of the nonparametric “trim-and-fill” method demonstrated the reliability of these findings. The outcome of heterogeneity analysis indicated that heterogeneity might be due to small sample sizes (<1000 subjects), cancer types (bladder cancer, other cancers), ethnicity (Asians), and population-based studies. However, the sensitivity analysis validated the reliability of the findings. Conclusion: In conclusion, this updated meta-analysis showed that the G carrier of the MCP-1 gene rs1024611 is associated with susceptibility to cancer in Caucasian.
Genetic characteristics of the Black-footed Albatross Diomedea nigripes on the Bonin Islands and their implications for the species' demographic history and population structure

Abstract The Black-footed Albatross Diomedea nigripes is an endangered seabird that is endemic to the North Pacific. The genetic structure of Black-footed Albatross populations on three of the Hawaiian Islands and on Izu-Torishima Island, Japan, has been studied previously, using the mitochondrial cytochrome b region. Hawaiian and Japanese breeding groups are genetically different, and the genetic diversity of the birds on Izu-Torishima is lower than that of birds in the Hawaiian Islands. We analyzed 50 Black-footed Albatrosses from the Bonin Islands, where a relatively stable population persisted throughout the twentieth century. Although albatrosses in the Bonin Islands do not differ significantly from those on Izu-Torishima in their cytochrome b region sequences, they do exhibit higher genetic diversity (as high as those from the Hawaiian colonies). A statistical parsimony network revealed two clades, one primarily in the western North Pacific colonies and the other primarily in eastern North Pacific colonies. The total network appears as a dumbbell-shaped phylogeny, suggesting recent population expansion in both populations, although the population breeding in the western North Pacific is only about 5% of the size of that in the eastern North Pacific. Our results suggest that Black-footed Albatrosses in the Bonin and the Hawaiian Islands differ genetically but are comparable natural biological units for conservation and management purposes.
A Rare Case of Leukemia Cutis as the First Presentation of a Myelodysplastic Syndrome to Acute Myeloid Leukemia Transformation

Leukemia cutis (LC) is a rare presentation of leukemia. It is characterized by the infiltration of leukemic cells into the different layers of the skin causing varying skin manifestations. It can occur before the hematological presentation of leukemia or during the disease course and carries a poor prognosis. Here, we report a patient with therapy-related myelodysplastic syndrome (t-MDS) whose transformation to acute leukemia was heralded by the development of LC. Worrisome cutaneous lesions should not be overlooked, and a skin biopsy should be pursued to confirm the diagnosis. A high index of suspicion is the key to early recognition of sometimes nonspecific skin findings of widespread systemic disease.
Relationships of Problematic Internet Use, Online Gaming, and Online Gambling with Depression and Quality of Life Among College Students

Young adults on college campuses have easy access to information and communications technology (ICT) which they use extensively for study, work, and leisure. The purpose of this study was to investigate the prevalence and extent of problematic Internet use, online gaming behavior, and online gambling behavior (together referred to as dysfunctional online behaviors), and their relationships with depression and quality of life among college students. Two hundred and twenty two valid surveys were used in the data analyses. Five instruments, Beck Depression Inventory-II (BDI-II), the WHO Quality of Life Scale-BREF (WHOQOL-BREF), the Internet Addiction Test (IAT), the Problematic Online Gaming Questionnaire (POGQ), and the Online Gambling Symptom Assessment Scale (OGSAS), were selected to measure the variables being studied. A non-experimental research design was employed to answer one descriptive and two research questions. The results of the analyses indicated that dysfunctional online behaviors predicted a higher level of depression (R2 = .14, p < .05) and a lower level of quality of life (R2 = .20, p < .05). The findings of the current study inform clinical practice and the treatment of dysfunctional online behaviors among college students.
Can We Reduce Deception in Elite Field Experiments? Evidence from a Field Experiment with State Legislative Offices

The use of deception is common in elite correspondence audit studies. Elite audit studies are a type of field experiment used by researchers to test for discrimination against vulnerable populations seeking to access government resources. These studies have provided invaluable insights, but they have done so at the cost of using deception. They have relied on identity, activity, and motivation deception. In addition, they request unnecessary work. Is there a less deceptive alternative? In this article, I present results from a field experiment with state legislative offices that minimize the use of deception. Consistent with elite correspondence audit studies, I find evidence of discrimination against Hispanics among state legislative offices. In addition, I find that discrimination is mitigated when subjects believe their behavior will be public knowledge. This suggests that discrimination can be mitigated through increased monitoring. This article advances the discussion on how to minimize the use of deception in elite field experimentation and how to mitigate discrimination against vulnerable populations.
Morphological characteristics and egg production of forced-moult layers under different moult induction techniques

A study was conducted to investigate the morphological characteristics and egg production of forcedmoult layers. Different feeding patterns designated T1, T2 and T3 representing ad libitum supply of feed and water, no feed but water given ad libitum and no feed or water, respectively, were used to induce moult. T1 served as the control. One hundred and twenty 84-week old layers in their 64 weeks in lay were randomly assigned to each treatment, which was replicated 4 times with 30 hens per replicate. Forced-moult treatments were imposed for 10 days, after which the moulting hens were fed moult diet for 50 days and returned to the same feed as the control. The results of the study revealed that morphological characteristics following moult induction included loss of feathers, dullness of the eyeballs, shriveling and paleness of the comb, wattle and ear lobes. Also the moulting birds emaciated with T2 and T3 losing 18.18 and 25.97%, respectively, of their initial body weights by day 7 of moult induction. The forced-moult groups T2 and T3 stopped egg production by 6 days of moult induction and resumed egg production by day 25. T2 and T3 attained a peak egg production of 71% by the second month following resumption of lay. On the other hand, in the T1 egg production progressively decreased with age.
Intracytoplasmic Sperm Injection in Zona-free Oocytes

Excessive manipulation of cumulus-oocyte –complexes during preparation for ICSI can result in zona-free oocytes. Using a modified ICSI technique such gametes may be considered for injection. After checking six nude oocytes for loss of ooplasm intracytoplasmic injection was performed resulting in four zygotes, of which three embryos derived. Blastomeres showed a atypical elongated appearance but on day 6 two out of three embryos reached full blastocyst stage. To conclude, ICSI of zona-free oocytes and subsequent culture to blastocyst stage can be performed successfully and for ethical reasons affected gametes should not be disposed any longer.
Resiliency and Self-Care Behaviors in Health Professional Schools

Background: Resilience is crucial for students in health schools as care becomes more complex and as the adjustment to meet patient, environmental, and professional demands with success can seem a daunting challenge. Self-care activities can support the development of resilience in the student population. The purpose of this study is to explore and describe self-care practices, health-promoting behaviors, and resilience among students, faculty, and staff of the health professional schools at a large metropolitan university. Method: This was a cross-sectional study of data from 148 participants. Analysis included descriptive statistics, t tests, analysis of variance, crosstabs, and Pearson correlations. Results: Resilience was lower among students than among faculty and staff. The most frequent self-care activities were humor and music. Resilience was significantly correlated with the self-care behaviors of praying (p = .006), healthy sleeping habits (p = .024), reading (p = .007), and mindful acceptance (p = .025); yoga and meditation were not significantly correlated with resilience.
Application of ISSR molecular markers in genetic diversity of Festuca arundinacea

Genetic variation for 18 accessions of Festuca arundinacea evaluated using 12 ISSR primers. In total 87 bands (loci) were obtained out of which 77 bands were polymorph in accessions studied. The primers of IS9 ،IS1 ،IS2 and IS6 considering polymorphism information content were useful for polymorphism study in Festuca genus in the future researches. The similarity between accessions based on Dice's coefficient was low; therefore there was a high genetic variation among accessions. The 4 groups of accessions obtained by the results of cluster analysis and principal coordinate analysis which these results confirmed by molecular variance analysis. Grouping of accessions indicated that genetic variations do not agreement with the geographical distribution of accessions. Finally, the accessions of the first group (Baneh (1) and Australia (4)) had the highest genetic distance with the accessions of the four group (Gen bank (2) and Irland (3)), based on ISSR markers. Therefore considering of genetic distance between these groups, using of the first and four group accessions can be useful in breeding programs, to utilization of heterosis.
How Loose, How Tight? A Measure of Monetary and Fiscal Stance for the Euro Area

This paper builds a model-based dynamic monetary and fiscal conditions index (DMFCI) and uses it to examine the evolution of the joint stance of monetary and fiscal policies in the euro area (EA) and in its three largest member countries over the period 2007-2018. The index is based on the relative impacts of monetary and fiscal policy on demand using actual and simulated data from rich estimated models featuring also financial intermediaries and long-term government debt. The analysis highlights a short-lived fiscal expansion in the aftermath of the Global Financial Crisis, followed by a quick tightening, with monetary policy left to be the “only game in town” after 2013. Individual countries’ DMFCIs show that national policy stances did not always mirror the evolution of the aggregate stance at the EA level, due to heterogeneity in the fiscal stance.
Entomophagy: A Narrative Review on Nutritional Value, Safety, Cultural Acceptance and A Focus on the Role of Food Neophobia in Italy

In recent years, the consumption of insects, or entomophagy, has produced an increasing interest amongst scientists and ecologists as a potential source of animal protein. Eating insects is also interesting in terms of low greenhouse gas emissions and low land use. In contrast to tropical countries, where most of the 2000 edible insect species are traditionally consumed, the concept of eating insects is still new to Western culture and diet. Culture and eating habits exert a great influence on what is considered edible in the Mediterranean area, especially in Italy, where the preservation of culinary traditions is a predominant factor affecting dietary behaviour. The purpose of this narrative paper is to provide an overview of the main topics related to entomophagy. The introduction presents some information about the nutrient content and safety aspects, the second part summarises the cultural acceptance of insect in the world, while the role of food neophobia on the intention to consume insects in Italy is focused on in part three. The discussion displays important viewpoints of previously published studies and based on these perspectives it can be concluded that the Italian diet is still clearly influenced by local tradition. In conclusion, in order to introduce insects into the Italian diet, psychological motivation has to be enhanced.
Exchange Rate Hedging with Foreign Debt in the Spanish Market

This paper analyzes the factors determining transactional exchange rate hedging with foreign currency debt for a sample of 56 Spanish non-financial companies listed in 2004. In particular, we analyze the variables that determine the decision to hedge with foreign currency debt as well as hedging volume. We also analyze the interaction between the foreign currency debt and derivatives in the hedging decision. Unlike previous empirical studies, which have attempted to explain the use of foreign currency debt through arguments exclusively stemming from optimal hedging theory, we have complemented the analysis with hypothesis from capital structure theory.
Volatile constituents of cultivated Origanum vulgare L. inflorescences and leaves

Fourteen essential oils from inflorescences and leaves of cultivated Origanum vulgare L. were analyzed by GC and GC/MS. The main constituents in 6 inflorescence oils out of 7 and in 2 samples of 7 leaf oils were β-caryophyllene (15.4–24.9%), sabinene (6.2–19.5%) and germacrene D (11.4–14.6%) and in the 4 leaf oils - βcaryophyllene (17.2–21.3%), germacrene D (12.7–15.7%) and caryophyllene oxide (7.6–11.1%). The percentage of sabinene in the inflorescence oils exceeded 2–3 times that in the leaf oils produced from the same plant sample. An opposite corellation was found for caryophyllene oxide. The content of sesquiterpene hydrocarbons in both parts of the plants was 43.3–62.3%. The 39 constituents identified in the inflorescence oils made up 85.4–97.9%, and 41 compounds in leaf oils comprised 82.4–86.7%.
Efeito da densidade de plantas sobre a produtividade do tomateiro cultivado em estufa de plástico

Avaliou-se a produtividade do tomateiro em resposta a densidade de plantas cultivado no interior de estufa de plastico em Santa Maria, RS. Os tratamentos foram 20.000, 30.000, 40.000 e 50.000 plantas/lia. Utilizou-se o hibrido Monte Carlo do grupo Salada, com habito de crescimento indeterminado e frutos pluriloculados, conduzido com uma haste por planta e fileiras espacadas de 1 m. O experimento foi realizado em dois periodos, com semeaduras em 5/7/91 (periodo inverno-primavera) e 17/2/92 (periodo outono-inverno). A produtividade precoce de frutos foi crescente linear com o aumento da densidade de plantas no periodo inverno-primavera e crescente quadratica na epoca de outono-inverno. A produtividade total de frutos comercializaveis foi crescente quadratica com o aumento da densidade de plantas no periodo inverno-primavera, e nao houve tendencia de resposta no periodo outono-inverno. A maxima produtividade precoce, acumulada ate a 5a inflorescencia, e o total de frutos comercializaveis de tomateiro, estimados pelas equacoes de regressao, foram obtidos com densidades proximas a 40.000 plantas/ha.
¿Cuál es el estatus del concepto “historia de reforzamiento”, de uso frecuente en el análisis de la conducta?

The main objective of this work is to make a distinction between the conceptual uses that behavior analysis has made of the concept history of reinforcement. Within behavior analysis this concept is often employed to refer to the effects that the exposition to past contingencies has on the behavior elicited by current reinforcement contingencies. Nonetheless, if reinforcement history is proposed as an explicative variable of the current behavior, this concept has no applicability given that, by definition, this variable does not operate on current contingencies. Now, if reinforcement history is understood as a specific kind of relation between behavior and environment, a relation that has been established in a particular moment and that continues or integrates as an effective way of behavior within the present contingencies, the concept would be given a molar explanation status, which is acceptable. By not making this distinction is to commit what Ryle (1949) considers a categorical mistake, with grave implications for experimental practices as well as for the applied fields.
Understanding Diversity

Daan van Knippenberg is Professor of Organizational Behavior at RSM Erasmus University, Erasmus University Rotterdam, The Netherlands. His research interests include work group performance, especially work group diversity and group decision making, leadership, in particular the roles of self and identity, and of emotions, and social identity processes in organizations. In his inaugural address he argues that the effects of work group diversity on group performance should be understood in terms of two processes that have independent and interactive effects: elaboration of task-relevant information and social categorization. He outlines how an integrative model of these processes may explain inconsistent findings in diversity research and provide clear directions for the management of diverse groups. In this respect, he advocates in particular attention for group members’ understanding of work group diversity. Daan van Knippenberg is co-founder of the Erasmus Centre for Leadership Studies, and Associate Editor of Organizational Behavior and Human Decision Processes and of Journal of Organizational Behavior. His research is published in such academic outlets as Journal of Applied Psychology, Organizational Behavior and Human Decision Processes, and Annual Review of Psychology. The key question in diversity research is how differences between group members affect work group process and performance. Over 50 years of research have made clear that diversity can have positive as well as negative effects on performance, but research and practice are still struggling to formulate models that are able to make sense of these diverging effects and that offer clear guidance in how to manage diversity. The Categorization-Elaboration Model (CEM) addresses this issue. The CEM proposes that the effects of work group diversity on group performance should be understood in terms of two processes that have independent and interactive effects: elaboration of task-relevant information and social categorization. Diversity may have positive effects on performance to the extent that it engenders the exchange and integration of task-relevant information (elaboration). At the same time, diversity may be detrimental to performance to the extent that it engenders "us-them" distinctions (social categorization) and intergroup biases – especially because these intergroup biases disrupt information elaboration processes. The CEM also identifies the factors on which the occurrence of elaboration and social categorization processes is contingent, factors that may offer clear angles for the management of diversity.