Miracle-dz/UniFAR-FTUs huggingface dataset:
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumulation in several organs, followed by organ damage and failure. The C282Y mutation in the HFE gene explains 80-90% of all diagnosed cases of HH in populations of northwestern European ancestry. Targeted disruption of the mouse Hfe gene (or introduction of the murine mutation analogous to the C282Y human mutation) produces a murine model of HH. Another mutation in the HFE gene, H63D, is more prevalent than C282Y. However, the physiological consequences of the H63D mutation (as well as C282Y/H63D compound heterozygosity) on iron homeostasis are less well established. To evaluate the phenotypic consequences of the C282Y/H63D and H63D/H63D genotypes, we produced H67D (corresponding to H63D in humans) and C294Y (corresponding to C282Y in humans) knock-in mice. H67D homozygous mice, C294Y homozygous mice, and H67D/C294Y compound heterozygous mice each demonstrated hepatic iron loading. Even on a standard diet, by 10 weeks of age, hepatic iron levels in mice of these three genotypes were significantly higher than those of wild-type littermates. The relative severity of hepatic iron loading was C294Y/C294Y > C294Y/H67D > H67D/H67D. We conclude that the H67D allele, when homozygous or combined with a more consequential mutation like C294Y, leads to hepatic iron loading. These observations indicate that the H67D mutation leads to partial loss of Hfe function and can contribute to murine HH.
Maternal gestational diabetes, birth weight, and adolescent obesity.

OBJECTIVE Obesity increases risk of many adverse outcomes, but its early origins are obscure. Gestational diabetes mellitus (GDM) reflects a metabolically altered fetal environment associated with high birth weight, itself associated with later obesity. Previous studies of GDM and offspring obesity, however, have been few and conflicting. The objectives of this study were to examine associations of birth weight and GDM with adolescent body mass index (BMI) and to determine the extent to which the effect of GDM is explained by its influence on birth weight or by maternal adiposity. METHODS We conducted a survey of 7981 girls and 6900 boys, 9 to 14 years of age, who are participants in the Growing Up Today Study, a US nationwide study of diet, activity, and growth. In 1996, participants reported height, weight, diet, activity, and other variables by self-administered mailed questionnaire. We linked these data with information reported by their mothers, participants in the Nurses' Health Study II, including GDM, height, current weight, and child's birth weight. We excluded births <34 weeks' gestation and mothers who had preexisting diabetes. We defined overweight as BMI (kg/m(2)) >95th percentile, and at risk for overweight as 85th to 95th percentile, for age and gender from US national data. RESULTS Mean birth weight was 3.4 kg for girls and 3.6 kg for boys. Among the 465 subjects whose mothers had GDM, 17.1% were at risk for overweight and 9.7% were overweight in early adolescence. In the group without maternal diabetes, these estimates were 14.2% and 6.6%, respectively. In multiple logistic regression analysis, controlling for age, gender, and Tanner stage, the odds ratio for adolescent overweight for each 1-kg increment in birth weight was 1.4 (95% confidence interval: 1.2-1.6). Adjustment for physical activity, television watching, energy intake, breastfeeding duration, mother's BMI, and other maternal and family variables reduced the estimate to 1.3 (1.1-1.5). For offspring of mothers with GDM versus no diabetes, the odds ratio for adolescent overweight was 1.4 (1.1-2.0), which was unchanged after controlling for energy balance and socioeconomic factors. Adjustment for birth weight slightly attenuated the estimate (1.3; 0.9-1.9); adjustment for maternal BMI reduced the odds ratio to 1.2 (0.8-1.7). CONCLUSIONS Higher birth weight predicted increased risk of overweight in adolescence. Having been born to a mother with GDM was also associated with increased adolescent overweight. However, the effect of GDM on offspring obesity seemed only partially explained by its influence on birth weight, and adjustment for mother's own BMI attenuated the GDM associations. Our results only modestly support a causal role of altered maternal-fetal glucose metabolism in the genesis of obesity in the offspring. Alternatively, GDM may program risk for a postnatal insult leading to obesity, or it may merely be a risk marker, not in the causal pathway.
Ancient DNA reveals late survival of mammoth and horse in interior Alaska

Causes of late Quaternary extinctions of large mammals (“megafauna”) continue to be debated, especially for continental losses, because spatial and temporal patterns of extinction are poorly known. Accurate latest appearance dates (LADs) for such taxa are critical for interpreting the process of extinction. The extinction of woolly mammoth and horse in northwestern North America is currently placed at 15,000–13,000 calendar years before present (yr BP), based on LADs from dating surveys of macrofossils (bones and teeth). Advantages of using macrofossils to estimate when a species became extinct are offset, however, by the improbability of finding and dating the remains of the last-surviving members of populations that were restricted in numbers or confined to refugia. Here we report an alternative approach to detect ‘ghost ranges’ of dwindling populations, based on recovery of ancient DNA from perennially frozen and securely dated sediments (sedaDNA). In such contexts, sedaDNA can reveal the molecular presence of species that appear absent in the macrofossil record. We show that woolly mammoth and horse persisted in interior Alaska until at least 10,500 yr BP, several thousands of years later than indicated from macrofossil surveys. These results contradict claims that Holocene survival of mammoths in Beringia was restricted to ecologically isolated high-latitude islands. More importantly, our finding that mammoth and horse overlapped with humans for several millennia in the region where people initially entered the Americas challenges theories that megafaunal extinction occurred within centuries of human arrival or were due to an extraterrestrial impact in the late Pleistocene.
Creative Styles and Gender Roles in Undergraduates Students

ABSTRACT The study investigated the relationship between self-perceived creative styles and gender role orientation. Specifically, it was predicted that the creative styles of psychologically androgynous individuals would be different than the creative styles of nonandrogynous individuals. No specific predictions regarding differences among the creative styles of nonandrogynous orientations were made. Three hundred fifty-eight college undergraduate students completed the Creativity Styles Questionnaire-Revised (CSQ-R; Kumar & Holman, 1997) and the Bem Sex-Role Inventory (BSRI; Bem, 1974 1981x). Partial support was offered for our hypothesis, as the creative styles of psychologically androgynous compared to nonandrogynous orientations were associated with significant ratings on the following 4 subscales of the CSQ-R: Self-Perceived Creative Capacity, Use of Techniques, Use of Other People, and Use of the Senses. Results of the association between nonandrogynous gender role orientations and creative styles are also presented and suggested greater similarity among the creative styles of these individuals, compared to nonandrogynous individuals. Possible explanations for these findings and their implications are discussed.
Sea level variability at Adriatic coast and its relationship to atmospheric forcing

Abstract. Sea level (SLH) variability at the Adriatic coast was investigated for the period 1872–2001 using monthly average values of observations at 13 tide gauge stations. Linear trends and seasonal cycles were investigated first and removed afterwards from the data. Empirical Orthogonal Functions (EOF) analysis was used further on remaining anomalies (SLA) to extract the regional intermonthly variability of SLH. It was found that the leading EOF and its principal component (PC) explain a major part of SLA variability (92%). The correlation between the reconstructed SLA, based on leading EOF and its PC, and overlapping observed SLA values for selected tide gauge stations is between 0.93 and 0.99. Actual SLH values at tide gauge stations can be reconstructed and some gaps in the data can be filled in on the basis of estimated SLA values if reasonable estimates of long-term trends and seasonal cycles are also available. A strong, seasonally dependent relationship between SLA at the Adriatic coast and atmospheric forcing, represented by sea level pressure (SLP) fields, was also found. Comparing the time series of leading PC and gridded SLP data for the period 1948–2001, the highest correlation coefficients (r) of –0.92 in winter, –0.84 in spring, –0.66 in summer, and –0.91 in autumn were estimated for a SLP grid point located in northern Italy. The SLP variability on this grid point contains information about the isostatic response of the sea level at the Adriatic coast, but can also be treated as a sort of teleconnection index representing the large-scale SLP variability across central and southern Europe. To some extent the large-scale SLP variability that affects the SLA at the Adriatic coast can be related to the North Atlantic Oscillation (NAO), because significant correlations were found between the NAO index and the first PC of SLA (rwinter=–0.56, rspring=–0.45, rsummer=–0.48, and rautumn=–0.43) for the period 1872–2001. The use of partial least-squares (PLS) regression between large-scale SLP fields and SLA only slightly improved the description of the SLA dependence on SLP forcing in comparison to the single grid point approach. A strong relationship between atmospheric pressure and the sea level could represent an additional possibility for filling in the gaps in the tide gauge data. Keywords. Oceanography: general (Climate and interannual variability) – Oceanography: physical (Air-sea interactions; sea level variations)
Studying in higher education: students' approaches to learning, self‐regulation, and cognitive strategies

The authors looked at aspects of successful and problematic studying in terms of three different research traditions: students’ approaches to learning, self‐regulated learning and cognitive strategies. These frameworks have been widely applied when explaining university student learning. However, relations among different traditions have not been sufficiently looked at. In this study the authors explored the relations between learning approaches, regulation of learning and cognitive strategies. The subjects were students at the University of Helsinki who filled in the Task Booklet of Learning and the Strategy and Attribution Questionnaire. Their academic achievement was coded from university archives. It was found that approaches to learning, regulation of learning, and cognitive strategies were related to each other, and further, to study success.
Effects of a Prolonged Submarine Deployment on Special Operations Forces Mission-Related Performance

Abstract : Physical exertion is an inherent element in many Special Operations Forces' (SOF) missions. It was hypothesized that a SOF unit following a prolonged submarine deployment might have a decrement in a variety of physical tasks that require aerobic endurance, anaerobic bursts or physical strength. This study was conducted to document how mission-related performance of SEAL Team One is affected following a long submarine deployment on SSN 642 Kamehameha.
Religious/Spiritual Well-Being, Coping Styles, and Personality Dimensions in People With Substance Use Disorders

Religiosity and spirituality have been found to be negatively associated with a range of addictions. It has been suggested that religious/spiritual well-being might play an important role in the development, course, and recovery from addictive disorders. A sample of addiction in-patients (N = 389) was assessed using the Multidimensional Inventory for Religious/Spiritual Well-Being (MI-RSWB) and compared with a matched group of nonaddicted community controls (N = 389). RSWB was found to be substantially lower in people with substance use disorders compared to the normal sample. Discriminate functional analysis showed that Experiences of Sense and Meaning, General Religiosity, and Forgiveness were the dimensions of RSWB that strongly distinguished the groups. Within the group of people with substance use disorders, RSWB was strongly positively associated with the personality dimensions of Conscientiousness, Agreeableness, and Openness as well as Sense of Coherence and positive Coping styles. The study suggests that therapeutic intervention programs focusing on building a positive and meaningful personal framework, akin to that of a religious/spiritual orientation, may contribute to positive outcomes in addiction treatment.
The Nature and Dimensions of Precarious Employment in Australia

Abstract The quality of employment is often neglected in policy debates in Australia. Non-standard employment forms are dominating job generation in Australia. While the non-standard category is heterogeneous, it contains many jobs that exhibit characteristics of precariousness. Moreover, though precariousness is concentrated in non-standard employment, it is by no means confined to non-standard employment. Precariousness also affects parts of standard employment itself. This article is exploratory, aimed at taking up and applying the concept of precariousness to employment in Australia. It discusses the concept of precariousness, emphasising the importance of varied dimensions of labour insecurity. It then outlines the nature, spread and implications of precarious employment in Australia.
Scalable distributed DNN training using commodity GPU cloud computing

We introduce a new method for scaling up distributed Stochastic Gradient Descent (SGD) training of Deep Neural Networks (DNN). The method solves the well-known communication bottleneck problem that arises for data-parallel SGD because compute nodes frequently need to synchronize a replica of the model. We solve it by purposefully controlling the rate of weight-update per individual weight, which is in contrast to the uniform update-rate customarily imposed by the size of a mini-batch. It is shown empirically that the method can reduce the amount of communication by three orders of magnitude while training a typical DNN for acoustic modelling. This reduction in communication bandwidth enables efficient scaling to more parallel GPU nodes than any other method that we are aware of, and it can be achieved with neither loss in convergence rate nor accuracy in the resulting DNN. Furthermore, the training can be performed on commodity cloud infrastructure and networking.
Introduction: a functional approach to ellipsis

Abstract The papers in this issue discuss children's ellipsis of arguments, focusing on the interaction of discourse (or usage) with grammar and typology. Over the past years, many of the discussions on argument ellipsis in children's language were motivated by theoretical claims about universal grammar, and much of the discussion focused on subject ellipsis in an examination of the so-called pro-drop parameter. Research on the pro-drop parameter considered the implications of language differences on the acquisition process. Languages considered included Italian, Portugese, French, Chinese, English, and German (e.g. Hyams 1986; Pierce 1992; Valian 1991; Valian and Eisenberg 1996; Huang 1989). The research focused on empirical support for the initial setting of the parameter, or the factors that influenced the setting of the parameter appropriately.
FDG Positron Emission Tomography in Isolated Limb Perfusion Therapy in Patients with Locally Advanced Melanoma: Preliminary Results

Purpose Isolated limb perfusion (ILP) with high-dose chemotherapy and tumor necrosis factor is being tested in clinical trials as a treatment for locally advanced extremity melanoma. The authors investigated the ability of F-18 fluorodeoxyglucose positron emission tomography (FDG PET) to determine the true extent of disease in patients with this condition, whose distribution of lesions differs from that seen in previous studies. Methods Nine patients with locally advanced melanoma were selected for imaging of the entire body and extremities using FDG PET from a group of participants in a clinical trial of ILP with melphalan ± tumor necrosis factor. Scans were obtained without attenuation correction. Post-treatment scans were obtained in three patients 1 month after ILP. The findings in the FDG-PET scans were compared with those of a standard protocol (SP) that included anatomic images and physical examinations. Results Eighty lesions (74 malignant, 6 benign) were detected with FDG PET and the SP combined. Only malignant lesions were detected by both methods in the perfused limbs. Of the malignant lesions, FDG PET detected 65 lesions (sensitivity rate, 88%). In contrast, 48 lesions were detected with the SP (sensitivity rate, 65%). Twenty-six malignant lesions were seen only with FDG PET (35%), whereas nine malignant lesions were seen only with SP (12%). The six benign lesions included three false-positive mediastinal lymph nodes in one patient. The accuracy rates of FDG PET and the SP were 83% and 65%, respectively. These results are comparable to those seen in previous studies with patients who had disease confined primarily to the torso. All post-therapy FDG-PET scans showed a reduction in the number of visualized limb lesions, and diffuse uptake throughout the perfused limbs. The diffuse uptake correlated with post-therapy limb inflammation. Conclusions Non–attenuation-corrected FDG PET is more sensitive than the SP in detecting the extent of disease in candidates for ILP. The FDG uptake associated with post-therapy inflammation may reduce the contrast resolution of this technique and must be evaluated further.
Disease-related death in patients who were considered free of macroscopic disease after initial treatment of well-differentiated thyroid carcinoma.

BACKGROUND Death from well-differentiated thyroid cancer (WDTC) is rare, and over the past century there has been a trend away from local recurrence as the primary cause of death. The objective of our study was to report the cause of death from thyroid cancer in patients with WDTC treated with curative intent with surgery ± adjuvant radioactive iodine. METHODS An institutional database of 1811 patients with WDTC treated surgically for WDTC between 1986 and 2005 was analyzed and identified 165 (9.4%) who had died. Case records were studied to determine the cause of death in each patient. RESULTS Of the 165 deaths, 17 (10%) patients were confirmed to have died of thyroid cancer and 6 (4%) died of an unknown cause but had thyroid cancer present at the time of last follow-up. The remaining 142 (86%) died from other causes and were considered free of thyroid cancer at their last follow-up. We therefore identified only 23 cause-specific deaths from the entire cohort (1.3%). Of the 17 patients known to have died of thyroid cancer, all had distant recurrence. Ninety-four percent had pulmonary metastases. Of these, 47% also had bony metastasis at the time of death. Two patients had recurrent disease in the neck at the time of death, but both also had distant disease. Of the six patients (4%) who died of unknown causes but had thyroid cancer at last follow-up, four (67%) had distant disease alone, one (17%) had local and regional recurrence, and one had local and distant recurrence at last follow-up. CONCLUSION After successful resection of WDTC, we report a low disease-specific death rate (1.3%). In contrast to earlier reports, death caused by central compartment disease in this recent series is very rare, with metastatic disease accounting for almost all fatalities.
Mini-Mental State Exam Status of Community-Dwelling Cognitively Intact Centenarians

Mini-Mental State Exam (MMSE) scores for 247 community-dwelling, well-functioning individuals in their 60s (n = 88), in their 80s (n = 92), and 100 or older (n = 67) were compared to examine overall and component MMSE differences. The concomitant influences of visual or literacy deficits, gender, education, race, income, and activities of daily living on MMSE performance were analyzed. Mean MMSE scores of 27.8, 27.1, and 24.8, respectively, for the three cohorts were significantly different, even when all concomitant variables were controlled. After the concomitant variables were controlled, results indicated that there were no age group differences on five MMSE items: naming, repeating, listening and obeying, reading and obeying, and writing sentences. Participants with visual or literacy deficits scored 1.5 points lower than other partimcipants, and displayed performance deficits in four items form the Read & Write MMSE division: naming, reading and obeying, writing sentences, and praxis. Education and gender were significant covariates for total and divisional MMSE scores.
Cholesterol reduction yields clinical benefit: impact of statin trials.

BACKGROUND We determined the effect of incorporating the results of eight recently published trials of Hmg CoA reductase inhibitors ("statins") on the conclusions from our previously published meta-analysis regarding the clinical benefit of cholesterol lowering. METHODS AND RESULTS We used the same analytic approach as in our previous investigation, separating the specific effects of cholesterol lowering from the effects attributable to the different types of intervention studied. The reductions in coronary heart disease (CHD) and total mortality risk observed for the statins fell near the predictions from our earlier meta-analysis. Including the statin trial findings into the calculations led to a prediction that for every 10 percentage points of cholesterol lowering, CHD mortality risk would be reduced by 15% (P<.001), and total mortality risk would be reduced by 11% (P<.001), as opposed to the values of 13% and 10%, respectively, reported previously. Cholesterol lowering in general and by the statins in particular does not increase non-CHD mortality risk. CONCLUSIONS Adding the results from the statin trials confirmed our original conclusion that lowering cholesterol is clinically beneficial. The relationships (slope) between cholesterol lowering and reduction in CHD and total mortality risk became stronger, and the standard error of the estimated slopes decreased by about half. Use of statins does not increase non-CHD mortality risk. The effect of the statins on CHD and total mortality risk can be explained by their lipid-lowering ability and appears to be directly proportional to the degree to which they lower lipids.
Memory awareness and schematisation : learning in the university context

Following the application of the remember/know paradigm to student learning by Conway et al. (1997), this study examined changes in learning and memory awareness of university students in a lecture course and a research methods course. The proposed shift from a dominance of 'remember' awareness in early learning to a dominance of 'know' awareness as learning progresses and schematization occurs was evident for the methods course but not for the lecture course. The patterns of remember and know awareness and proposed associated levels of schematization were supported by a separate measure of the quality of student learning using the SOLO (Structure of Observed Learning Outcomes) Taxonomy. As found by previous research, the remember-to-know shift and schematization of knowledge is dependent upon type of course and level of achievement. Findings are discussed in terms of the utility of the methodology used, the theoretical implications and the applications to educational practice. Copyright (C) 2001 John Wiley & Sons, Ltd.