Miracle-dz/UniFAR-FTUs huggingface dataset:
Correction: A Developmental Stage-Specific Switch from DAZL to BOLL Occurs during Fetal Oogenesis in Humans, but Not Mice

The Deleted in Azoospermia gene family encodes three germ cell-specific RNA-binding proteins (DAZ, DAZL and BOLL) that are essential for gametogenesis in diverse species. Targeted disruption of Boll in mice causes malespecific spermiogenic defects, but females are apparently fertile. Overexpression of human BOLL promotes the derivation of germ cell-like cells from genetically female (XX), but not male (XY) human ES cells however, suggesting a functional role for BOLL in regulating female gametogenesis in humans. Whether BOLL is expressed during oogenesis in mammals also remains unclear. We have therefore investigated the expression of BOLL during fetal oogenesis in humans and mice. We demonstrate that BOLL protein is expressed in the germ cells of the human fetal ovary, at a later developmental stage than, and almost mutually-exclusive to, the expression of DAZL. Strikingly, BOLL is downregulated, and DAZL re-expressed, as primordial follicles form, revealing BOLL expression to be restricted to a narrow window during fetal oogenesis. By quantifying the extent of co-expression of DAZL and BOLL with markers of meiosis, we show that this window likely corresponds to the later stages of meiotic prophase I. Finally, we demonstrate that Boll is also transiently expressed during oogenesis in the fetal mouse ovary, but is simultaneously co-expressed within the same germ cells as Dazl. These data reveal significant similarities and differences between the expression of BOLL homologues during oogenesis in humans and mice, and raise questions as to the validity of the Boll-/mouse as a model for understanding BOLL function during human oogenesis. Citation: He J, Stewart K, Kinnell HL, Anderson RA, Childs AJ (2013) A Developmental Stage-Specific Switch from DAZL to BOLL Occurs during Fetal Oogenesis in Humans, but Not Mice. PLoS ONE 8(9): e73996. doi:10.1371/journal.pone. 0073996 Editor: Stefan Schlatt, University Hospital of Münster, Germany Received June 6, 2013; Accepted July 29, 2013; Published September 25, 2013 Copyright: © 2013 He et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: This work was supported by Medical Research Foundation [grant 354FRG to AJC] and the Medical Research Council [grant G1100357 to RAA]. J.H. is supported by a University of Edinburgh Darwin Scholarship and K.S. is the recipient of a Society for Reproduction and Fertility Summer Vacation Scholarship. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Competing interests: The authors have declared that no competing interests exist. * E-mail: achilds@rvc.ac. uk
Pallidal deep brain stimulation influences both reflexive and voluntary saccades in Huntington's disease

Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is being evaluated as a potential new therapy for patients with Huntington's disease (HD). In addition to skeletal movement disorders, HD patients have difficulty initiating voluntary saccades and have difficulty in suppressing rapid saccades toward newly appearing stimuli. We measured several saccade parameters in an HD patient who had marked improvement of clinical symptoms with bilateral GPi DBS to determine whether oculomotor performance improved in parallel with clinical scores. Oculomotor performance was assessed using three testing paradigms: pro‐saccades, anti‐saccades, and memory‐guided saccades. The data from the HD patient was also compared to that of two healthy controls. Pallidal DBS decreased pro‐saccade latency, total movement time, and the number of correctly executed trials, as well as increasing saccade gain. Memory–saccade performance was negatively affected with stimulation: saccade gain decreased, latency increased, and the patient's ability to suppress unwanted saccades decreased with stimulation. Our data demonstrate a task‐specific improvement of oculomotor deficits in this HD patient with pallidal DBS, supporting a role of GPi in oculomotor control. © 2004 Movement Disorder Society
The Relationship between EEG Changes and Cognitive Functions in Dementia: A Study in a VA Population

This study explores the relationship between the results of tests of dementia and the EEG findings in 94 demented patients of different etiologies. Abnormal EEGs were found in 83% of all patients, usually diffuse slow wave abnormalities, the degree of which correlated very well with the Modified Hachinski test. Only a weak relationship was found between the EEG and the Mini-Mental Status Examination, while the Mattis and its subtests correlated better. Focal EEG abnormalities on the temporal areas were the characteristic pattern in patients with alcoholic dementia. The test scores in the 17% with normal EEGs were consistent with the above findings, in that patients with normal tracings scored well on the Modified Hachinski and Mattis tests, but not on the Mini-Mental Status Exam.
Hypertension, living kidney donors, and transplantation: where are we today?

Hypertension is a prevalent problem in kidney transplant recipients that is known to be a "traditional" risk factor for atherosclerotic cardiovascular disease leading to premature allograft failure and death. Donor, peritransplant, and recipient factors affect hypertension risk. Blood pressure control after transplantation is inversely associated with glomerular filtration rate (GFR). Calcineurin inhibitors, the most commonly used class of immunosuppressives, cause endothelial dysfunction, increase vascular tone, and sodium retention via the renin-angiotensin-aldosterone system resulting in systemic hypertension. Steroid withdrawal seems to have little impact on blood pressure control. Newer agents like belatacept appear to be associated with less hypertension. Transplant renal artery stenosis is an important, potentially treatable cause of hypertension. Dihydropyridine calcium channel blockers mitigate calcineurin inhibitor nephrotoxicity and may be associated with improved estimated GFR. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are not recommended in the first 3 to 6 months given their effects on reduced estimated GFR, anemia, and hyperkalemia. The use of ß-blockers may be associated with improved patient survival, even for patients without cardiovascular disease. Living donation may increase blood pressure by 5 mm Hg or more. Some transplant centers accept Caucasian living donors with well-controlled hypertension on a single agent if they agree to close follow-up.
Activity‐dependent Gene Expression Correlates with Interictal Spiking in Human Neocortical Epilepsy

Summary: Interictal spikes are hallmarks of epileptic neocortex that are used commonly in both EEG and electrocorticography (ECoG) to localize epileptic brain regions. Despite their prevalence, the exact relationship between interictal spiking and the molecular pathways that drive the production and propagation of seizures is not known. We have recently identified a common group of genes induced in human epileptic foci, including EGR1, EGR2, c‐fos, and MKP‐3. We found that the expression levels of these genes correlate precisely with the frequency of interictal activity and can thus serve as markers of epileptic activity. Here, we explore this further by comparing the expression of these genes within human epileptic neocortex to both ictal and specific electrical parameters of interictal spiking from subdural recordings prior to surgical resection in order to determine the electrical properties of the human neocortex that correlate best to the expression of these genes. Seizure frequency as well as quantitative electrophysiological parameters of interictal spikes including frequency, amplitude, duration, and area were calculated at each electrode channel and compared to quantitative real‐time RT‐PCR measurements of four activity‐dependent genes (c‐fos, EGR1, EGR2, and MKP‐3) in the underlying neocortical tissue. Local neocortical regions of seizure onset had consistently higher spike firing frequencies and higher spike amplitudes compared to nearby “control” cortex. In contrast, spike duration was not significantly different between these two areas. There was no relationship observed between seizure frequency and the expression levels of activity‐dependent genes for the patients examined in this study. However, within each patient, there were highly significant correlations between the expression of three of these genes (c‐fos, EGR1, EGR2) and the frequency, amplitude, and total area of the interictal spikes at individual electrodes. We conclude that interictal spiking is closely associated with the expression of a group of activity‐dependent transcription factors in neocortical human epilepsy. Since there was little correlation between gene expression and seizure frequency, our results suggest that interictal spiking is a stronger driving force behind these activity‐dependent gene changes and may thus participate in the development and maintenance of the abnormal neuronal hyperactivity seen in human epileptic neocortex.
[Comparative evaluation of the effectiveness of radiotherapy, surgery and combined treatment of stage I-II laryngeal cancer (T1-2NoMo) based on the data of a cooperative randomized study].

During 1979-1987 269 patients with laryngeal cancer stage I-II were included into a cooperative randomized study: 111 patients had T1 and 158 patients, T2 tumor; 13% of patients showed cancer of the vestibular cord and 87% of them of the true vocal cord. 76 patients underwent surgery, 129 patients--radiotherapy, and 64 patients received combined treatment, i.e. radio- and chemotherapy (prospidine). The rate of relapses and regional metastases was 11.8 +/- 3.7% and 2.6 +/- 1.8% after surgery, 21.4 +/- 3.8% and 1.6 +/- 1.1% after radiotherapy, and 23.4 +/- 5.3% and 6.3 +/- 3.0% after combined treatment. In terms of the recurrence-free time surgical intervention showed the highest efficacy. With respect to the 5-year survival, measured in the above patients plus 42 patients operated on because of relapses and regional metastases, surgery of vocal cord cancer was effective in 100% in case of stage I, 97.4% in case of stage II; radiotherapy was effective in 91.7% in case of stage I, 88.8% in case of stage II, and combined treatment was effective in 100% in case of stage I and 70.3% in case of stage II; surgery of vestibular cord cancer stage II was effective in 100%, combined treatment in 88.9%, and radiotherapy in 68.6%. When vocal cord cancer involves the anterior commissure, ventricle, and space, preference should be given to surgery because relapses after radiotherapy were seen in 38-42%. Combined radio- and chemotherapy did not reduce the recurrence rate and therefore cannot be recommended for practical purposes.
Extracorporeal cardiopulmonary resuscitation after out‐of‐hospital cardiac arrest in a Danish health region

Extracorporeal Cardiopulmonary Resuscitation (ECPR) has emerged as a feasible rescue therapy for refractory, normothermic out‐of‐hospital cardiac arrest (OHCA). Reported survival rates vary and comparison between studies is hampered by heterogeneous study populations, differences in bystander intervention and in pre‐hospital emergency service organisation. We aimed to describe the first experiences, treatment details, complications and outcome with ECPR for OHCA in a Danish health region.
Test-day models for South African dairy cattle for participation in international evaluations

Variance components and breeding values of production traits and somatic cell score of South African Guernsey, Ayrshire, Holstein and Jersey breeds have been estimated using a multi-lactation repeatability test-day model, including tests of the first three lactations as repeated measures and fitting the permanent environmental effect across lactations. Multitrait evaluations were done for the production traits (milk, butterfat and protein) and single trait evaluations for somatic cell score. Heritability estimates were comparable with yield and somatic cell score estimates obtained by test-day models from other countries (17-24% for milk yield; 10-13% for butterfat yield; 14-19% for protein yield and 6-8% for somatic cell score). Proofs of qualifying sires were sent to the International Bull Evaluation Service (INTERBULL) for participation in the March 2005 test runs. Genetic correlations between South Africa and other participating countries, estimated by INTERBULL, compared well with those amongst the other participating countries. Trend validation tests were successful using this methodology for all traits and breeds except for somatic cell score of the Guernsey breed, due to insufficient data for this trait. South Africa can now participate in routine INTERBULL evaluations to obtain Multiple Across Country Evaluation (MACE) breeding values, using this methodology.
THE COMPARISON OF QUANTITATIVE GENETIC PARAMETERS BETWEEN POPULATIONS

A statistical method for comparing matrices of genetic variation and covariation between groups (e.g., species, populations, a single population grown in distinct environments) is proposed. This maximum‐likelihood method provides a test of the overall null hypothesis that two covariance component matrices are identical. Moreover, when the overall null hypothesis is rejected, the method provides a framework for isolating the particular components that differ significantly between the groups. Simulation studies reveal that discouragingly large experiments are necessary to obtain acceptable power for comparing genetic covariance component matrices. For example, even in cases of a single trait measured on 900 individuals in a nested design of 100 sires and three dams per sire in each population, the power was only about 0.5 when additive genetic variance differed by a factor of 2.5. Nevertheless, this flexible method makes valid comparison of covariance component matrices possible.
Ethics and Community Involvement in Syntheses Concerning American Indian, Alaska Native, or Native Hawaiian Health: A Systematic Review

Background: The objective of this research was to review reporting of ethical concerns and community involvement in peer-reviewed systematic reviews or meta-analyses concerning American Indian, Alaska Native, or Native Hawaiian (AI/AN/NH) health. Methods: Text words and indexed vocabulary terms were used to query PubMed, Embase, Cochrane Library, and the Native Health Database for systematic reviews or meta-analyses concerning AI/AN/NH health published in peer-reviewed journals, followed by a search through reference lists. Each article was abstracted by two independent reviewers; results were discussed until consensus was reached. Results: We identified 107 papers published from 1986 through 2012 that were primarily about AI/AN/NH health or presented findings separately for AI/AN/NH communities. Two reported seeking indigenous reviewer feedback; none reported seeking input from tribes and communities. Approximately 7% reported on institutional review board (IRB) approval of included studies, 5% reported on tribal approval, and 4% referenced the sovereignty of AI/AN tribes. Approximately 63% used evidence from more than one AI/AN/NH population study, and 28% discussed potential benefits to communities from the synthesis research. Conclusions: Reporting of ethics and community involvement are not prominent. Systematic reviews and meta-analyses making community-level inferences may pose risks to communities. Future systematic reviews and meta-analyses should consider ethical and participatory dimensions of research.
Phylogeography in coastal marine animals: a solution from California?

Recently discovered deep phylogenetic gaps in coastal California marine taxa are geographically discordant with the provincial biogeographic boundary at Point Conception. This discordance runs contrary to the phylogeographic hypotheses that were derived from studies of coastal marine taxa in south‐eastern North America. Here, I investigate the nature of the discrepant phylogeographic and biogeographic patterns in coastal California.
On Measuring the Marriage Squeeze

ResumenA partir de 1960, los hombres solieros se han casado a una tasa cada oee creciente, y las mujeres solteras a una tasa decreciente. Estas tendencias pueden ser explicadas, casi enteramente, por la desproporción entre los sexos en las edades en las que ocurre el matrimonio con más frecuencia, lo que comunmente se conoce como “presion matrimonial. ” Las desproporciones surgieron de un aumenlo de los nacimientos durante el período de 1939-47, unido al hecho de que las mujeres se casan más jovenes que los hombres.Estos cambios en los patrones de matrimonio deben tener calgun efecto, aunque talvez secundario, sobre la tasa de nacimientos y sobre la formación de hogares. Las consecuencias de esios cambios constituyen un proyecto para mayor investigación. SummaryDuring the 1960’s, single men have been marrying at an increasing rate, and single women at a decreasing rate. These trends can be explained almost entirely by disproportions between the sexes at the prime ages of marriage—that is, by what is commonly called the “marriage squeeze. ” The disproportions arose from the increase in births during the period 1939-47, coupled with the fact that women marry earlier than men.These changes in marriage patterns must certainly have some effect on the birth rate and on household formation, although perhaps a secondary one. The consequences of these changes are a project for further inquiry.
Stress and "type A" behavior as precipitants of post-polio sequelae: the Felician/Columbia Survey.

A behavioral profile has begun to emerge from studies of persons who survived acute poliomyelitis and are now experiencing Post-Polio Sequelae (PPS). Persons who had polio have been shown to be employed full time at four times the rate of the general disabled population (1, 21), have more years of formal education on average than the general population (31), and marry at a higher rate than those who are not disabled (4). These data, combined with our own experience with thousands of persons who had polio, indicated that "polio survivors" are competent, hard-driving and timeconscious overachievers who demand perfection in all aspects of their personal, professional and social lives. It appears that those who survived polio exhibit "Type A" behavior and would therefore experience chronic emotional stress.
The high prevalence of autoantibodies to tissue transglutaminase in first-degree relatives of patients with type 1 diabetes is not associated with islet autoimmunity.

OBJECTIVE To determine the extent of celiac autoimmunity in type 1 diabetic patients and the overlap between islet and celiac autoimmunity in their nondiabetic relatives. RESEARCH DESIGN AND METHODS IgA antibodies to tissue transglutaminase were determined in serum taken from 433 type 1 diabetic patients and 1,442 nondiabetic first-degree relatives. Samples with transglutaminase antibodies above the 97.5th percentile of 347 schoolchildren were also assayed for IgA anti-endomysial antibodies (EMAs). Markers of islet autoimmunity (islet cell antibodies and autoantibodies to insulin, glutamate decarboxylase. and protein tyrosine phosphatase IA-2) had previously been measured in all relatives. RESULTS In the absence of known celiac disease, the prevalence of transglutaminase antibody levels above the 97.5th percentile of the schoolchildren was 13.4% in diabetic patients and 7.0% in nondiabetic relatives. ENMAs were found in addition to transglutaminase antibodies in 2.6% of probands and in 1.9% of first-degree relatives, but none of the schoolchildren. Transglutaminase antibodies were found to persist in 10 of 30 patients and in 30 of 59 relatives with follow-up samples taken at least 2 years after the initial sample. Of 186 nondiabetic relatives with islet autoantibodies, only 10 also had transglutaminase antibodies. CONCLUSIONS We found a high prevalence of celiac autoimmunity in patients and first-degree relatives of children with type 1 diabetes, but we found limited overlap between islet and celiac autoimmunity in nondiabetic relatives. The high prevalence of celiac autoimmunity may be explained by shared genetic susceptibility and identifies a population within which screening for the disease may be justified.
The gamification of a MOOC platform

Massive Open Online Courses (MOOCs) have left their mark on the face of education during the recent years. At the Hasso Plattner Institute (HPI) in Potsdam, Germany, we are actively developing a MOOC platform, which provides our research with a plethora of e-learning topics, such as learning analytics, automated assessment, peer assessment, team-work, online proctoring, and gamification. We run several instances of this platform. On openHPI, we provide our own courses from within the HPI context. Further instances are openSAP, openWHO, and mooc.HOUSE, which is the smallest of these platforms, targeting customers with a less extensive course portfolio. In 2013, we started to work on the gamification of our platform. By now, we have implemented about two thirds of the features that we initially have evaluated as useful for our purposes. About a year ago we activated the implemented gamification features on mooc.HOUSE. Before activating the features on openHPI as well, we examined, and re-evaluated our initial considerations based on the data we collected so far and the changes in other contexts of our platforms.
MAIT cells: an historical and evolutionary perspective

In humans, MAIT cells represent the most abundant T‐cell subset reacting against bacteria. MAIT cells belong to the evolutionarily conserved family of “preset” T cells that includes also NKT cells. Both subsets are selected by double positive thymocytes leading to common features such as PLZF expression. Preset T cells correspond to subsets prepositioned in specific tissue locations with preprogrammed versatile effector functions such as antimicrobial functions and possibly also metabolic control and tissue repair activity. Herein, we recall how several groups studying human samples discovered MAIT cells as T cells expressing either a restricted T‐cell receptors (TCR) repertoire or homogeneous and singular phenotypic and functional characteristics. We then highlight the main evolutionary features of this subset and its restricting element, MR1 (MHC‐related protein (1) with a striking coevolution of TRAV1 and MR1. We introduce another evolutionarily conserved invariant TCRalpha chain coevolving with another MHC class Ib molecule, called MHX, sharing phylogenetic features with MR1. We finally discuss the relationship between MAIT cells and other subsets reacting to microbial antigens or to compounds presented by MR1 in light of confounding experimental issues.