Miracle-dz/UniFAR-FTUs huggingface dataset:
Rett syndrome and long‐term disorder profile

In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so‐called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C‐terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. © 2009 Wiley‐Liss, Inc.
A combined analysis of 3D weak lensing, Lyman-α forest and WMAP year three data

We present constraints on the amplitude and shape of the matter power spectrum and the density of dark matter within the framework of a standard ΛCDM model. We use a Markov chain Monte Carlo approach to combine independent measurements of the three-dimensional weak gravitational lensing shear field by the COSMOS survey, of low- and high-resolution Lyman-α (Lyα) forest flux power spectrum by SDSS and LUQAS, and of cosmic microwave background temperature and polarization anisotropies by WMAP. We note good agreement between the amplitude of the matter power spectrum on intermediate and small scales as inferred from Lyα forest and lensing data. The Lyα forest data help to break the σ8–Ω0m degeneracy characteristic of weak lensing results, yielding σ8 = 0.876 ± 0.048 for COSMOS plus Lyα SDSS data. This is somewhat larger than the value preferred by the WMAP year three CMB data. Combining all three data sets significantly tightens the constraints on σ8, the spectral index of primordial density fluctuation ns, a possible running of the spectral index nrun and the matter density Ω0m. Assuming no running, the joint constraints for COSMOS, SDSS and WMAP are σ8 = 0.800 ± 0.023, ns = 0.971 ± 0.011, Ω0m = 0.247 ± 0.016 (1-σ error bars).
Comparison of First 50 and Subsequent 74 Surgeries of Transcanalicular Laser Dacryocystorhinostomy Performed by a Surgeon Team

Purpose: To compare perioperative and postoperative outcomes of the first and following 50 cases of transcanalicular laser dacryocystorhinostomy performed by a surgeon team. Methods: Results of 124 eyes of 115 patients who had a diagnosis of distal obstruction of the lacrimal drainage system and underwent transcanalicular laser dacryocystorhinostomy procedures were retrospectively detected. Initial 50 eyes were considered as group 1; 74 following eyes were accepted as group 2. Groups were compared regarding age, gender, total surgical time, time for creation of osteotomy, pain score, bleeding score, anatomic and functional success rates. Results: The average total surgical time was 43.2 ± 6.0 minutes (range: 31 to 65 minutes) in group 1, and 30.0 ± 6.4 minutes (range: 21 to 57 minutes) in group 2 (p < 0.001). Laser osteotomy creation required 25.0 ± 4.2 minutes (range: 14 to 34 minutes) in group 1, and 14.6 ± 3.6 months (range: 9 to 28 minutes) (p < 0.001). Intraoperative pain and bleeding scores were significantly better in group 2 (p < 0.001 and p < 0.001 respectively). Success rate was 54.0% in group 1, and 85.1% in group 2 (p < 0.001). Conclusion: The results of current study clearly showed that increased experience of a surgeon results with improvement of better surgical outcomes. Initial studies about a novel technique should make clear if the study cases are the beginning cases of the authors.
Association of Glycated Albumin with Glycemic Markers, Lipid Profile and Liver Function Tests for the Assessment Control in Saudi Patients with Long-Standing Type-2 Diabetes Mellitus.

This study is an effort to evaluate the association between glycated-albumin and various biochemical parameters in Saudi type-2 diabetic patients. Ninety long-standing (>10 years) type-2 diabetic subjects (51 males, 39 females) serum was analyzed for glycated albumin, fasting blood glucose, hemoglobin1c, cholesterol, triglyceride, albumin, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, aspartate transaminase, alkaline phosphatase, alanine transaminase and total bilirubin. Correlation, principal components analysis, covariance and statistical differences were conducted using SPSS for both male and female participants. The average age (years) of female and male participants was 51.0±10.2 and 51.6±14.1, respectively. Hemoglobin1C was significantly associated with fasting blood glucose (r=0.637,P<0.01). No significant differences between men and women were observed in the glycemic markers, lipid profile and liver function tests. Both men and women showed no significant differences in glycated-albumin irrespective of age and hemoglobin1c covariance. The regression model revealed that low-density lipoprotein, aspartate transaminase and alanine transaminase are significantly associated with glycated-albumin. Men’s glycated-albumin was observed to be significantly associated with hemoglobin1c only, while women’s glycated-albumin is highly associated with low-density lipoprotein only. Glycated-albumin was also co-varied with low-density lipoprotein. Glycated-albumin could be employed for screening high risk diabetic patients for early diagnosis of dyslipidemia and appropriate intervention with lipid-decreasing drugs. Current findings provide novel insights on the use glycated-albumin as clinical chemistry maker.
Multivariate pattern analysis of the human medial temporal lobe revealed representationally categorical cortex and representationally agnostic hippocampus

Contemporary theories of the medial temporal lobe (MTL) suggest that there are functional differences between the MTL cortex and the hippocampus. High‐resolution functional magnetic resonance imaging and multivariate pattern analysis were utilized to study whether MTL subregions could classify categories of images, with the hypothesis that the hippocampus would be less representationally categorical than the MTL cortex. Results revealed significant classification accuracy for faces versus objects and faces versus scenes in MTL cortical regions—parahippocampal cortex (PHC) and perirhinal cortex (PRC)—with little evidence for category discrimination in the hippocampus. MTL cortical regions showed significantly greater classification accuracy than the hippocampus. The hippocampus showed significant classification accuracy for images compared to a nonmnemonic baseline task, suggesting that it responded to the images. Classification accuracy in a region of interest encompassing retrosplenial cortex (RSC) and the posterior cingulate cortex (PCC) posterior to RSC, showed a similar pattern of results to PHC, supporting the hypothesis that these regions are functionally related. The results suggest that PHC, PRC, and RSC/PCC are representationally categorical and the hippocampus is more representationally agnostic, which is concordant with the hypothesis of the role of the hippocampus in pattern separation. © 2014 Wiley Periodicals, Inc.
Epidemiological characteristics and temporal-spatial clustering analysis of hand, foot and mouth disease in Nanchang city 2008–2012

Abstract Objective: To describe the epidemiological characteristics of hand, foot and mouth disease (HFMD) in Nanchang city during 2008–2012 and to detect potential temporal-spatial clusters. Methods: Data on HFMD in Nanchang City during 2008–2012 were derived from the National Notifiable Infectious Disease Reporting System (NNIDRS). We used descriptive methods to describe the epidemiological characteristics of HFMD. Space-time scan statistic, based on the Space-Time Permutation model, was adopted to determine the presence of space-time interaction clusters of HFMD in Nanchang. Results: There were 29 062 HFMD cases reported in Nanchang during 2008–2012. The annual average incidence rate was 118.56 per 100 000 inhabitants. There were two peaks in HFMD occurrence. Children aged 0–5 years accounted for 92.91% of cases. Scattered children (children not in nursery or kindergarten) accounted for 73.72%. There was a male predominance, with a male-to-female ratio of 1.82:1. Three space-time interaction clusters were explored including one most likely cluster and two secondary clusters from 2008 to 2012. Conclusions: Males and preschool children, especially in the 0–5-year age group, were more susceptible to HFMD and we should take measures to control their vulnerability. There were two peaks in HFMD occurrence, one during the summer (between April and July) and one in the autumn (between September and December). Northwest, middle east, and north Nanchang were the spatial-temporal clusters, so future public health planning and resource allocation should be focused on these areas.
A Single Agent Exploration in Unknown Undirected Graphs with Whiteboards

We consider the exploration problem with a single agent in an undirected graph. The problem requires the agent starting from an arbitrary node to explore all the nodes and edges in the graph and return to the starting node. Our goal is to minimize both the number of agent moves and the memory size of the agent, which dominate the amount of communication during the exploration. We focus on the local memory called the whiteboard of each node. There are several exploration algorithms which are very fast (i.e. the exploration is completed within a small number of agent moves such as 2m and m + 3n) and do not use whiteboards. These algorithms, however, require large agent memory because the agent must keep the entire information in its memory to explore a graph. We achieve the above goal by reducing the agent memory size of such algorithms with using whiteboards. Specifically, we present two algorithms with no agent memory based on the traditional depth-first traversal and two algorithms with O(n) and O(n log n) space of agent memory respectively based on the fastest algorithms in the literature by Panaite and Pelc [J. Alg. , Vol.33 No.2, 1999]. key words: graph exploration, mobile agent, whiteboard
What You Hear is Where You Are is What I Hear

Aiming at providing data points for a framework of adaptive audio implementations, this paper draws on previous results obtained from an ongoing series of experiments in ludomusicology. From discussing findings on enhanced user interaction in video games through the use of adaptive music, further insights are offered into optimising immersive experience by means of adjusted temporal-structural and expressive attributes according to interindividual differences in the cognitive-emotional processing of music. In addition to outlining those implications for the design of a user-aware audio engine, the presented study takes into account situational percepts and context effects as opposed to treating situation as a mere external stimulus. Not only the cognitive-emotional processing of music, but also situation awareness and tendency for immersive experience, has been shown to vary along different manifestations of personality traits. Accordingly, self-report measures of spatial presence and emotional response showcased correlations with trait empathising-systemising and trait absorption. Differential effects on those dimensions appeared depending on the use of situation-adaptive implementations of low and high arousing music stimuli in an action-adventure 3D video game. These findings suggest interindividual differences in the sub-attentional processing of music found in genre video games and are discussed with regards to the potential of psychologically informed sound design to affect a users' mental model of situational context and experience of agency.
Post-dispersal seed predation in relation to selection on seed size in Dithyrea californica

Question: We asked whether a desert ant population and a community of heteromyid rodents select Dithyrea californica seeds in relation to their size, frequency of seed sizes, and absolute density and thus have the capacity to influence natural selection on seed size. Hypothesis: Following the predictions of optimal diet theory, we hypothesized that seed predators will prefer to prey upon larger seeds, that seed selection should be frequency independent, and that only variation in the absolute density of the preferred seeds will influence predator behaviour by lowering their preference for larger seeds. Organisms: A colony of the desert harvester ant Pogonomyrmex rugosus and a community of heteromyid rodents (Dipodomys merriami and Dipodomys desertii). Site of experiments: Reserva de la Biósfera El Pinacate y Gran Desierto de Altar and Hermosillo, Sonora, México. Methods: We conducted two preference experiments in which we offered D. californica seeds that varied in size, relative frequency of sizes, and absolute density of seeds to a population of the harvester ant and to the community of heteromyid rodents of the Sonoran Desert. Results: We found that ants had a preference for larger seeds whereas rodents had an equal preference for large and small seeds, despite variation in seed frequency and density. In accordance with optimal diet theory, seed predation was frequency independent. Contrary to our predictions, neither changes in absolute density of larger seeds nor of smaller seeds had a significant influence on predator behaviour. Conclusion: Our results suggest that only Pogonomyrmex rugosus influenced selection on seed size, which it does by preferring larger seeds and counteracting the competitive effect of larger seeds in other life stages. Selection via seed predation conflicts with post-germination selection on seed size, when encountered by ants but not rodents.
Effect of laser in situ keratomileusis on tear secretion and corneal sensitivity.

PURPOSE To study changes in corneal sensitivity and Schirmer I scores following laser in situ keratomileusis (LASIK) and the correlation between the two. METHODS Twenty-three patients who had LASIK at The Gimbel Eye Center, Toronto, Ontario, Canada, participated in the study. All were asymptomatic for severe dry eyes before surgery. All patients underwent a Schirmer test (without anesthetic), a filament corneal sensitivity test, and slit-lamp microscopy including staining with lissamine green preoperatively and at postoperative time intervals of 3 to 5 days, and 1 and 3 months. RESULTS No correlation was found between the difference in Schirmer test scores and the difference in corneal sensitivity, at any timepoint. A non-statistically significant trend toward a reduction in Schirmer values immediately after surgery was noted, with a return to slightly lower than baseline levels by 3 months. Corneal sensitivity was significantly decreased immediately after surgery and returned to preoperative levels by 3 months (P<.0001). There was a statistically significant effect of age, gender, and mean spherical equivalent refraction on corneal sensitivity (P<.0001) and a significant effect of age on the time trend (P=.02), but not for Schirmer levels or staining. CONCLUSIONS A significant reduction in corneal sensitivity immediately following surgery occurred, with a return to preoperative levels by 3 months. Schirmer test scores similarly decreased, although without statistical significance, and returned to near preoperative levels after 3 months. A statistically significant correlation between the reduction in tearing and reduction in corneal sensitivity after LASIK was not demonstrated.
Association between obesity‐related gene FTO and ADHD

Attention‐deficit/hyperactivity disorder (ADHD) is an etiologically complex heterogeneous behavioral disorder. Several studies have reported that ADHD subjects are more likely to be overweight/obese and that this comorbidity may be due to shared genetic factors. The objective of this study is to explore the association between ADHD and FTO, a gene strongly associated with obesity in genome‐wide studies.
Risk of Metabolic Complications in Kidney Transplantation After Conversion to mTOR Inhibitor: A Systematic Review and Meta‐Analysis

Mammalian target of rapamycin (mTOR) inhibitors have been used in transplantation with the hope of minimizing calcineurin inhibitor (CNI)‐induced nephrotoxicity. However, mTOR inhibitors are also associated with a range of side effects, including metabolic complications. We aimed to determine the risks of metabolic complications after the conversion from CNI to mTOR inhibitor postkidney transplant. A systematic search in PubMed up to September 2013 identified nine relevant trials (a total of 2323 patients). The primary end points were the relative risks (RRs) of new‐onset diabetes after transplant (NODAT) and hypercholesterolemia. The overall RRs of NODAT and hypercholesterolemia associated with mTOR inhibitors were 1.32 (95% confidence interval [CI] 0.92–1.87) and 2.15 (95% CI 1.35–3.41), respectively, compared with CNI‐based regimen. Subgroup analyses revealed no differences in the incidence of NODAT or hypercholesterolemia between sirolimus‐ versus everolimus‐based regimen, or between early versus late conversion. Analyses of secondary outcomes revealed a higher risk of acute rejection, proteinuria and anemia, but no difference in the risk of opportunistic infections after mTOR inhibitor conversion. In conclusion, the conversion from CNI to mTOR inhibitor in low‐to‐moderate risk kidney transplant recipients was associated with nonsignificant trend toward increased risk of NODAT and significant increase in hypercholesterolemia, acute rejection, proteinuria and anemia.
The relation of parenthood to suicide.

Hoyer and Lund 1 reported finding only one study "focusing on the importance of parenthood related to suicide," proposing theirs as the "first prospective one [of a large size] focusing on the association between family size and suicide among women. " In our review of risk factors for death by suicide, 2 we noted several investigators since Veevers 3 have reported evidence suggesting that parental status is a better demographic marker for decreased suicide risk than marital status (ie, those with responsibility for young children are at lower risk) 4,5 or have offered the same hypothesis as an explanation for their findings. 6 Nonetheless, the Hoyer and Lund study constitutes a remarkable contribution to the epidemiology of suicide. By tracking an entire population of women (almost 1 million) of known marital, childbearing, and parental status for 15 years, they show that married women without children were more likely to die by
Body size and testicular cancer.

The incidence of testicular cancer has been increasing markedly among many populations worldwide for as long as cancer occurrence has been assessed (1,2). The cause of this increase, however, remains unknown. Sex hormones are instrumental in the growth and in the development of the testicle, both prenatally and postnatally, and have, therefore, frequently been the focus of etiologic research. Obesity often reflects increased levels of estradiol and estrone (3). We have performed a study of a cohort of approximately 500 000 Norwegian men to investigate the relation between body size, measured by height and body mass index (BMI), and testicular cancer. Between 1963 and 1975, the National Mass Radiography Service in Norway conducted a tuberculosis screening program. The program included all inhabitants who were more than 15 years of age in 17 of the 19 counties of Norway. In connection with the examination, height and weight were measured and recorded together with the individually unique, 11-digit identification number assigned to all inhabitants of Norway. Approximately 600 000 men went through the screening. This corresponded to 70.3% of those who were invited. We restricted our study population to men between 20 and 54 years of age at the time of examination, for a total of 476 912 individuals. Follow-up for occurrence of testicular cancer(4) was made by linkage to the Cancer Registry in Norway, in which all newly diagnosed cases of cancer in Norway are registered. Patients are entered in the Cancer Registry by use of their individual identification number. The Registry was started in 1952, and the completeness of registration of testicular cancer is almost 100% (3). The histologic classification and coding are done according to the Manual of Tumor Nomenclature of Pathology, 1968 (5). Only patients with tumors of germ cell origin were included in the analyses. We categorized the cases into the two major histopathologic subgroups: seminomas and nonseminomas. Those case patients with a histologic code indicating a pure seminoma type were classified as having seminomas, whereas those with the codes for embryonal carcinomas, endodermal sinus tumors, teratomas, choriocarcinomas, or germ cell
Chromosome stability in tonsillar squamous cell carcinoma is associated with HPV16 integration and indicates a favorable prognosis

Tonsillar squamous cell carcinoma (TSCC) is frequently associated with human papillomavirus (HPV) and chromosome instability. Data from cellular model systems are, however, controversial concerning a relation between HPV and chromosome instability development. Here we studied this association in 77 primary TSCC with known clinical outcome and cell cycle protein expression profiles. Thirty‐two tumors (42%) showed HPV16‐integration. All 77 cases were analyzed by fluorescence in situ hybridization using chromosome 1‐ and 7‐specific centromere DNA probes to detect chromosome instability, indicated by the presence of chromosome imbalances and/or polyploidization for these chromosomes. In addition, eight HPV‐positive dysplasias, seven of which were adjacent to a carcinoma, were analyzed. Disomy for chromosome 1 and 7 was present in 29 out of 77 TSCC (38%), of which 19 were HPV16‐positive (p = 0.002). Aneusomy was observed in the remaining 48 TSCC, of which 13 were HPV‐positive. Aneusomies correlated significantly with tobacco‐ and alcohol consumption (p = 0.001 and p = 0.016, respectively) and a higher T‐stage (p = 0.018). Both HPV‐positivity and chromosome disomy were significantly associated with a favorable disease‐free survival (p = 0.001 and p = 0.025, respectively). Particularly in the HPV16‐positive group chromosome instability is a very strong indicator for an unfavorable prognosis (p = 0.032). In the dysplasias an identical HPV and chromosome copy number status was identified as in the adjacent tumors. We conclude that HPV‐positive TSCC and their precursor lesions are more often genetically stable than HPV‐negative lesions and that these tumors are associated with a favorable prognosis. Chromosome instability is an indicator for unfavorable prognosis, particularly in the HPV‐positive patient group.