Miracle-dz/UniFAR-FTUs huggingface dataset:
An investigation of sequence deletions of amelogenin (AMELY), a Y-chromosome locus commonly used for gender determination

Background: Accurate gender determination is crucial in many scientific disciplines, but especially so in prenatal diagnosis of X-linked diseases and forensic investigations. Today, molecular techniques, especially typing for a length variation in the X–Y homologous amelogenin gene (AMELX and AMELY), are used for gender assignation. This amelogenin test is an integral part of most PCR multiplex kits that are used for DNA profiling, but in 1998 there was a report of two normal males being typed as female with this test. Subsequently, a small number of amelogenin negative (or AMELY null) males have been reported in various populations but little data are available characterising these deletions. Aims: The study aims to determine the size of the deletion in five AMELY null males by typing DNA samples for markers surrounding this gender-determining locus. The possible relationships among the AMELY null samples are examined through analysis of their deletion size and associated Y-chromosome microsatellite haplotypes. We also attempt to determine the frequency of AMELY negative males in Australia. Subjects and methods: DNA samples from five AMELY null males, from different geographical regions, were made available for this study. The samples were typed for eight sites, all located on the short arm of the Y chromosome, using PCR and gel electrophoresis. Eleven Y-chromosome specific microsatellites were also typed on each sample in order to generate haplotypes for phylogenetic analysis. A questionnaire was sent to all Australian forensic centres requesting information on the frequency of AMELY negative males observed in their laboratories. Results: Two different sized deletions were seen in the five AMELY null samples. One deletion (in two samples) has a size of between 304 and 731 kbp, whereas the other (in three samples) ranges between 712 and 1001 kbp. Y-microsatellite haplotypes indicate that the smaller deletion is probably identical in the two samples, but this is not the case with the larger deletion. The frequency of AMELY negative is rare in Australia, with an overall frequency of 0.02%. Conclusion: Comparisons of both deletion size and haplotypes with published data suggest that most AMELY nulls are the result of independent evolutionary events, even in those populations where the frequency is relatively high. Although AMELY null males are extremely rare in most populations, typing an additional gender-determining locus should be considered in forensic investigations where the reference sample is of unknown gender.
Purification of Glutathione Reductase from Bovine Brain, Generation of an Antiserum, and Immunocytochemical Localization of the Enzyme in Neural Cells

Abstract : Glutathione reductase (GR) is an essential enzyme for the glutathione‐mediated detoxification of peroxides because it catalyzes the reduction of glutathione disulfide. GR was purified from bovine brain 5,000‐fold with a specific activity of 145 U/mg of protein. The homogeneity of the enzyme was proven by sodium dodecyl sulfate‐polycrylamide gel electrophoresis and silver staining of the gel. The purified GR from bovine brain is a dimer of two subunits that have an apparent molecular mass of 55 kDa. The purified GR was used to generate a rabbit antiserum with the intention to localize GR in brain cells. The antiserum was useful for the detection of GR by double‐labeling immunocytochemical staining in astroglia‐rich and neuron‐rich primary cultures from rat brain. In homogenates of these cultures, no significant difference in the specific activities of GR was determined. However, not all cell types present in these cultures showed identical staining intensity for GR. In astrogliarich primary cultures, strong GR immunoreactivity was found in cells positive for the cellular markers galactocerebroside and C3b (antibody Ox42), indicating that oligodendroglial and microglial cells, respectively, contain GR. In contrast, only weak immunoreactivity for GR was found in cells positive for glial fibrillary acidic protein. In neuron‐rich primary cultures, GAP43‐positive cells stained with the antiserum against GR. These data demonstrate that, in cultures of neural cells, neurons, oligodendroglial cells, and microglial cells express high levels of GR.
Molecular Diagnostics in Embryonal Brain Tumors

Embryonal brain tumors are a heterogeneous group of neoplasms united by the presence of poorly differentiated stem‐like cells. Molecular details are increasingly being used to separate them into biologically and clinically meaningful groups. For medulloblastoma, integrated mRNA expression profiling and DNA analysis by a number of research groups defines 4–6 distinctive molecular variants. A subset with prominent Wnt activity is associated with good clinical outcomes and classic histology. Medulloblastomas showing a Hedgehog gene expression signature are frequently of the desmoplastic/nodular subtype. Interestingly, Hedgehog activity is found in tumors arising either in infants or older teenagers and adults. The association of clinically aggressive medulloblastoma with MYC expression, large cell/anaplastic change and high levels of photoreceptor differentiation transcripts has also been noted in several studies. Immunohistochemical analysis of just one or two genes per molecular medulloblastoma variant may be sufficient for accurate classification, and this would be of great practical utility if validated. Advances have also been made in the classification of central nervous system (CNS) Primitive Neuroectodermal Tumors (PNET), as several groups have identified an amplicon at chromosome 19q13.41–42, which appears to define a unique PNET subtype associated with prominent true rosettes, young age and very poor outcomes.
Relationship between soil organic C degradability and the evolution of the delta13C signature in profiles under permanent grassland.

The main objective of this research was to investigate to what extent the potential C dynamics of soil organic matter (SOM) are related to the degree of 13C enrichment with increasing depth in soil profiles under permanent grassland. The evolution of the C content and the 13C natural abundance (delta13C value) of SOM were investigated in three soil profiles (0-40 cm depth) under permanent grassland of varying texture (a loamy sand, a loam and a clay loam soil). The delta13C value of the SOM showed a gradual increase with increasing depth and decreasing C content in the profiles, ranging from 1.9 per thousand (loamy sand soil), 2.9 per thousand (clay loam soil) and 4 per thousand (loam soil) in relation to the delta13C value of SOM at the surface. The relationship between the 13C enrichment and total organic C content at different depths in the profiles (down to 40 cm depth in the loam and clay loam soil, down to 25 cm depth in the loamy sand soil) could be well described by the Rayleigh equation. The enrichment factors epsilon, associated with the Rayleigh approximation of the data, ranged from -1.57 per thousand (clay loam soil) to -1.64 per thousand (loamy sand soil) and -1.91 per thousand (loam soil). The potential C dynamics in four depth intervals from the profiles (0-10, 10-20, 20-30 and 30-40 cm depth) were determined by means of an incubation experiment. The C decomposition rate constants from the four sampling depths in the profiles showed a significant, positive correlation (y = 0.21x + 0.018, R(2) = 0.66, p < 0.005) with the corresponding Deltadelta13C values (change of the delta13C value per depth increment). A better correlation was obtained when only the data from the upper 20 cm in the profiles (y = 0.21x + 0.019, R(2) = 0.78, p < 0.05) were considered. These results suggest that the Deltadelta13C values in the surface layers of profiles under permanent grassland may serve as an indicator of the potential degradability or the stability of the SOM (in terms of C decomposition rate constants).
Phosphorylation of Serine-15 of Maize Leaf Sucrose Synthase (Occurrence in Vivo and Possible Regulatory Significance)

Experiments were conducted to determine whether sucrose synthase (SuSy) was phosphorylated in the elongation zone of maize (Zea mays L.) leaves. The approximately 90-kD subunit of SuSy was 32P-labeled on seryl residue(s) when excised shoots were fed [32P]orthophosphate. Both isoforms of SuSy (the SS1 and SS2 proteins) were phosphorylated in vivo, and tryptic peptide-mapping analysis suggested a single, similar phosphorylation site in both proteins. A combination of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and automated Edman sequencing analysis unequivocally identified the phosphorylation site in the maize SS2 protein as serine-15. This site was phosphorylated in vitro by endogenous protein kinase(s) in a strictly Ca2+-dependent manner. A synthetic peptide, based on the phosphorylation site sequence, was used to identify and partially purify an endogenous Ca2+-dependent protein kinase(s) from the maize leaf elongation zone and expanding spinach leaves. Phosphorylation of SuSy in vitro selectively activates the cleavage reaction by increasing the apparent affinity of the enzyme for sucrose and UDP, suggesting that phosphorylation may be of regulatory significance. Conservation of the phosphorylation site, and the sequences surrounding it, among plant species suggests that phosphorylation of SuSy may be widespread, if not universal, in plants.
Leadership in Medical Emergencies Depends on Gender and Personality

Introduction: Leadership is an important predictor of team performance in medical emergencies. There are no data on why some healthcare workers take the lead in emergencies while others do not. Accordingly, the aim of the study was to determine predictors of leadership in a medical emergency. Methods: Two hundred thirty-seven medical students in fourth year of medical school participated and filled in a questionnaire assessing knowledge, experience, and personality traits. Students were randomly assigned to 79 groups of three. Each group was confronted with a standardized scenario of a simulated witnessed cardiac arrest. The primary outcome was the predictors of the number of leadership statements during the first 3 minutes of the cardiac arrest. Results: In the first 3 minutes of the cardiac arrest, the participants made a median of five leadership statements (range, 0–22; interquartile range, 2). Thirteen participants (5.5%) made no single leadership statement. Multivariate analysis revealed that male gender (unstandardized coefficient, 1.9; P = 0.01), extraversion (unstandardized coefficient, 0.9; P = 0.02), and agreeableness (unstandardized coefficient, −1.1; P = 0.023) predicted leadership statements. Context knowledge, context experience, and other personality traits had no significant effect on leadership. Conclusions: During the initial phase of a medical emergency, there is a substantial interindividual variation in the amount of leadership. Leadership behavior as assessed by the number of leadership statements is determined by gender and personality and not by knowledge or experience.
Patterns of nonadherence to antiepileptic drug therapy in children with newly diagnosed epilepsy.

CONTEXT Because of epilepsy's common occurrence, the narrow therapeutic and safety margins of antiepileptic medications, and the recognized complications of medication nonadherence in adults with epilepsy, identifying the rates, patterns, and predictors of nonadherence in children with epilepsy is imperative. The onset and evolution of antiepileptic drug nonadherence in children with newly diagnosed epilepsy remains unknown. OBJECTIVES To identify and characterize trajectories of adherence in children with newly diagnosed epilepsy over the first 6 months of therapy and to determine sociodemographic and epilepsy-specific predictors of adherence trajectories. DESIGN, SETTING, AND PATIENTS Prospective, longitudinal observational study of antiepileptic drug adherence in a consecutive cohort of 124 children (2-12 years old) with newly diagnosed epilepsy at Cincinnati Children's Hospital Medical Center. Patients were recruited from April 2006 through March 2009, and final data collection occurred in September 2009. MAIN OUTCOME MEASURE Objective adherence measured using electronic monitors. RESULTS Fifty-eight percent of children with newly diagnosed epilepsy demonstrated persistent nonadherence during the first 6 months of therapy. Group-based trajectory models identified 5 differential adherence patterns (Bayesian information criterion = -23611.8): severe early nonadherence (13%; 95% confidence interval [CI], 8%-20%), severe delayed nonadherence (7%; 95% CI, 3%-12%), moderate nonadherence (13%; 95% CI, 8%-20%), mild nonadherence (26%; 95% CI, 19%-34%), and near-perfect adherence (42%; 95% CI, 33%-50%). The adherence pattern of most patients was established by the first month of therapy. Socioeconomic status was the sole predictor of adherence trajectory group status (χ(4)(2) = 19.3 [n = 115]; P < . 001; partial r(2) = 0.25), with lower socioeconomic status associated with higher nonadherence. CONCLUSION Five trajectory patterns were identified that captured the spectrum of nonadherence to antiepileptic drugs among children with newly diagnosed epilepsy; the patterns were significantly associated with socioeconomic status.
Effects of lipid environment on membrane transport: the human erythrocyte sugar transport protein/lipid bilayer system.

Membrane transport proteins (carriers) catalyze transmembrane movements of hydrophilic molecular species. To perform this function, carriers employ a variety of mechanisms for transmembrane solute flux that are distinct from and more rapid than leakage or non-Stokesian transbilayer diffusion of solutes (37). The low permeability of the membrane lipid bilayer to most hydrophilic species prevents the rapid dissipation of transbilayer solute gradients co­ established by membrane transport systems and intracellular metabolism and thus assists in the maintenance of a cytosolic environment favorable to cellular homeostasis. In addition to providing a permeability barrier, the membrane lipid bilayer provides a matrix for the attachment of membrane proteins. Most integral membrane proteins contain extensive, hydrophilic (extramembranous) and hydrophobic (membrane spanning) sequences. As a consequence, transverse protein reorientations (flip-flop) within the lipid bilayer arc highly improbable
The ABA Receptor PYL8 Promotes Lateral Root Growth by Enhancing MYB77-Dependent Transcription of Auxin-Responsive Genes

Plants use an alternative abscisic acid signaling pathway to promote lateral root growth. ABA Tells Roots to Stop and Then Grow Plants respond to environmental stresses, such as high salt or drought, by altering the organization and length of their roots. Plant hormones, such as auxins and abscisic acid, signal to cells to either promote or inhibit growth. In response to stress, plants use abscisic acid to halt the growth of lateral roots that extend horizontally from the main root. Later, the roots recover and these lateral roots start to grow. Whereas abscisic acid initially halted lateral root growth, Zhao et al. found that abscisic acid also signals through the receptor PYL8 to activate genes that stimulate the recovery of lateral root growth. Thus, PYL8 may represent a central molecule in abscisic acid–dependent patterning of root architecture in response to stress. The phytohormone abscisic acid (ABA) regulates plant growth, development, and abiotic stress responses. ABA signaling is mediated by a group of receptors known as the PYR1/PYL/RCAR family, which includes the pyrabactin resistance 1–like protein PYL8. Under stress conditions, ABA signaling activates SnRK2 protein kinases to inhibit lateral root growth after emergence from the primary root. However, even in the case of persistent stress, lateral root growth eventually recovers from inhibition. We showed that PYL8 is required for the recovery of lateral root growth, following inhibition by ABA. PYL8 directly interacted with the transcription factors MYB77, MYB44, and MYB73. The interaction of PYL8 and MYB77 increased the binding of MYB77 to its target MBSI motif in the promoters of multiple auxin-responsive genes. Compared to wild-type seedlings, the lateral root growth of pyl8 mutant seedlings and myb77 mutant seedlings was more sensitive to inhibition by ABA. The recovery of lateral root growth was delayed in pyl8 mutant seedlings in the presence of ABA, and the defect was rescued by exposing pyl8 mutant seedlings to the auxin IAA (3-indoleacetic acid). Thus, PYL8 promotes lateral root growth independently of the core ABA-SnRK2 signaling pathway by enhancing the activities of MYB77 and its paralogs, MYB44 and MYB73, to augment auxin signaling.
Evaluating multiple causes of persistent low microwave backscatter from Amazon forests after the 2005 drought

Amazonia has experienced large-scale regional droughts that affect forest productivity and biomass stocks. Space-borne remote sensing provides basin-wide data on impacts of meteorological anomalies, an important complement to relatively limited ground observations across the Amazon’s vast and remote humid tropical forests. Morning overpass QuikScat Ku-band microwave backscatter from the forest canopy was anomalously low during the 2005 drought, relative to the full instrument record of 1999–2009, and low morning backscatter persisted for 2006–2009, after which the instrument failed. The persistent low backscatter has been suggested to be indicative of increased forest vulnerability to future drought. To better ascribe the cause of the low post-drought backscatter, we analyzed multiyear, gridded remote sensing data sets of precipitation, land surface temperature, forest cover and forest cover loss, and microwave backscatter over the 2005 drought region in the southwestern Amazon Basin (4°-12°S, 66°-76°W) and in adjacent 8°x10° regions to the north and east. We found moderate to weak correlations with the spatial distribution of persistent low backscatter for variables related to three groups of forest impacts: the 2005 drought itself, loss of forest cover, and warmer and drier dry seasons in the post-drought vs. the pre-drought years. However, these variables explained only about one quarter of the variability in depressed backscatter across the southwestern drought region. Our findings indicate that drought impact is a complex phenomenon and that better understanding can only come from more extensive ground data and/or analysis of frequent, spatially-comprehensive, high-resolution data or imagery before and after droughts.
Anaphylaxis to diclofenac: nine cases reported to the Allergy Vigilance Network in France

Nine cases of diclofenac hypersensitivity recorded by the Allergy Vigilance Network in France from 2002 to 2012 were studied. Data from history, symptoms, skin tests, basophil activation tests, and oral challenge (OC) were recorded. Grade 3 severe anaphylactic reactions occurred in seven cases of nine. IgE‐dependent anaphylaxis was confirmed in six cases: positive intradermal tests (n = 4), a syndromic reaction during skin tests (n = 1), and one case with grade 1 reaction and negative skin tests had an anaphylactic shock to the OC. A nonimmune reaction was suspected in one case. An IgE‐dependent mechanism may be the predominant cause of adverse reactions to diclofenac. Allergy skin tests must be carried out sequentially at the recommended concentrations. BATs may be helpful because they can support the diagnosis of anaphylaxis. Given the risks of a direct challenge to diclofenac, OC to aspirin should be performed first to exclude a nonimmunologic hypersensitivity to NSAIDs. Tests for specific IgEs to most frequently used NSAIDs such as diclofenac and ibuprofen are urgently needed.
Seasonal Fluctuations of Glial Fibrillary Acidic Protein (GFAP) Immunoreactivity in the Rat Suprachiasmatic Nucleus

The pacemaker of the “biological clock”, the suprachiasmatic nucleus (SCN) of the hypothalamus was studied in intact male rats for glial fibrillary acidic protein (GFAP) a specific marker for astrocytes. Immunohistochemical reactions were carried out in winter (January–February) and in summer (June–July). In winter the GFAP-immunoreactivity of the SCN was found low whereas in summer it was high. Gonadectomy reduced differences. Since photic stimuli that apparently trigger the observed differences reach the SCN through identified neuronal pathways we conluded that the reaction of astrocytes is an indicator of seasonally altered neuronal function in the SCN.
Caracterização e Avaliação Antropométrica dos Trabalhadores dos Restaurantes Universitários da Universidade Federal do Rio Grande do Sul

Introducao: Devido a relacao positiva entre as condicoes de saude e a produtividade, ha uma crescente preocupacao das empresas com a saude de seus funcionarios. Nesse sentido, conhecer o perfil nutricional dos trabalhadores torna-se fundamental para a elaboracao de estrategias visando melhorar a qualidade de vida desses sujeitos. Objetivo: Caracterizar e realizar avaliacao antropometrica dos trabalhadores dos restaurantes universitarios (RUs) da Universidade Federal do Rio Grande do Sul (UFRGS). Metodos: Realizou-se, em 2006, um estudo transversal com os funcionarios ligados a producao de alimentos dos quatro RUs da UFRGS. Atraves da analise estatistica, foi verificado se as variaveis possuiam associacao significativa (P<0,05). Resultados : Os 130 trabalhadores avaliados tinham idade media de 36,82±11,85 anos e 75,4% eram terceirizados. Encontrou-se que 74,61% dos individuos ganharam, em media, 5,6 kg (±8,01) desde o seu inicio de trabalho no RU e 56,9% dos funcionarios estavam com excesso de peso, sendo 34,6% com sobrepeso e 22,3% com obesidade. Observou-se que 77,9% dos funcionarios do sexo masculino possuem adiposidade abdominal adequada, enquanto 56,5% das mulheres apresentam circunferencia abdominal maior que 88 cm, sendo consideradas com alto risco para doenca cardiovascular. Quanto ao estilo de vida, 29,2% dos individuos eram fumantes e 56,9% eram sedentarios. Conclusao: A atividade fisica e o estado nutricional sugerem que os homens possuem melhor qualidade de vida e menor risco de desenvolver doencas cronicas nao transmissiveis. Alem disso, foi encontrada alta prevalencia de funcionarios com excesso de peso, havendo uma mudanca significativa no estado nutricional durante o tempo de trabalho.