bluuebunny/crossref_metadata_2025 huggingface dataset:
Traces of post-transcriptional RNA modifications in deep sequencing data
Authors: Findeiß Sven , Langenberger David , Stadler Peter F. , Hoffmann Steve
Published: February 2011

Many aspects of the RNA maturation leave traces in RNA sequencing data in the form of deviations from the reference genomic DNA. This includes, in particular, genomically non-encoded nucleotides and chemical modifications. The latter leave their signatures in the form of mismatches and conspicuous patterns of sequencing reads. Modified mapping procedures focusing on particular types of deviations can help to unravel post-transcriptional modification, maturation and degradation processes. Here, we focus on small RNA sequencing data that is produced in large quantities aimed at the analysis of microRNA expression. Starting from the recovery of many well known modified sites in tRNAs, we provide evidence that modified nucleotides are a pervasive phenomenon in these data sets. Regarding non-encoded nucleotides we concentrate on CCA tails, which surprisingly can be found in a diverse collection of transcripts including sub-populations of mature microRNAs. Although small RNA sequencing libraries alone are insufficient to obtain a complete picture, they can inform on many aspects of the complex processes of RNA maturation.
A discrete events delay differential system model for transmission of Vancomycin-resistant enterococcus (VRE) in hospitals
Authors: Ortiz Angela , Banks H. Thomas , Castillo-Chavez Carlos , Chowell Gerardo , Wang Xiaohong
Published: February 2011

Surveillance data from an oncology hospital unit on Vancomycin-resistant enterococcus (VRE), one of the most prevalent and dangerous pathogens involved in hospital infections, is used to motivate possibilities of modeling nosocomial infection dynamics. This is done in the context of hospital monitoring and isolation procedures as a prelude to the evaluation and improved design of control measures. A discrete event delay differential equation model in conjunction with statistical computational methods is formulated to estimate key population-level nosocomial transmission parameters and isolation procedures. This framework is used to test the surveillance data's usefulness in model validation. In the process of model calibration we discovered significant irregularities in the available surveillance data; these irregularities are most likely the result of the data observational recording-process as well as those in the isolation procedures. Efforts to fit data within our highly flexible dynamic-modeling framework suggest that clinical-trial level surveillance data is needed if one is to successfully develop quantitative models for disease transmission and intervention. It is concluded that typical “cold” data sets typically encountered in biological/sociological quantitative modeling efforts may be inadequate for support of serious model development.
Protein Misfolding and Oxidative Stress Promote Glial-Mediated Neurodegeneration in an Alexander Disease Model
Authors: Wang Liqun , Colodner Kenneth J. , Feany Mel B.
Published: February 2011

Although alterations in glial structure and function commonly accompany death of neurons in neurodegenerative diseases, the role glia play in modulating neuronal loss is poorly understood. We have created a model of Alexander disease inDrosophilaby expressing disease-linked mutant versions of glial fibrillary acidic protein (GFAP) in fly glia. We find aggregation of mutant human GFAP into inclusions bearing the hallmarks of authentic Rosenthal fibers. We also observe significant toxicity of mutant human GFAP to glia, which is mediated by protein aggregation and oxidative stress. Both protein aggregation and oxidative stress contribute to activation of a robust autophagic response in glia. Toxicity of mutant GFAP to glial cells induces a non-cell-autonomous stress response and subsequent apoptosis in neurons, which is dependent on glial glutamate transport. Our findings thus establish a simple genetic model of Alexander disease and further identify cellular pathways critical for glial-induced neurodegeneration.
The Architecture of Functional Interaction Networks in the Retina
Authors: Ganmor Elad , Segev Ronen , Schneidman Elad
Published: February 2011

Sensory information is represented in the brain by the joint activity of large groups of neurons. Recent studies have shown that, although the number of possible activity patterns and underlying interactions is exponentially large, pairwise-based models give a surprisingly accurate description of neural population activity patterns. We explored the architecture of maximum entropy models of the functional interaction networks underlying the response of large populations of retinal ganglion cells, in adult tiger salamander retina, responding to natural and artificial stimuli. We found that we can further simplify these pairwise models by neglecting weak interaction terms or by relying on a small set of interaction strengths. Comparing network interactions under different visual stimuli, we show the existence of local network motifs in the interaction map of the retina. Our results demonstrate that the underlying interaction map of the retina is sparse and dominated by local overlapping interaction modules.
Phosphoinositide-3-Kinase Activation Controls Synaptogenesis and Spinogenesis in Hippocampal Neurons
Authors: Cuesto Germán , Enriquez-Barreto Lilian , Caramés Cristina , Cantarero Marta , Gasull Xavier , Sandi Carmen , Ferrús Alberto , Acebes Ángel , Morales Miguel
Published: February 2011

The possibility of changing the number of synapses may be an important asset in the treatment of neurological diseases. In this context, the synaptogenic role of the phosphoinositide-3-kinase (PI3K) signaling cascade has been previously demonstrated inDrosophila. This study shows that treatment with a PI3K-activating transduction peptide is able to promote synaptogenesis and spinogenesis in primary cultures of rat hippocampal neurons, as well as in CA1 hippocampal neuronsin vivo. In culture, the peptide increases synapse density independently of cell density, culture age, dendritic complexity, or synapse type. The induced synapses also increase neurotransmitter release from cultured neurons. The synaptogenic signaling pathway includes PI3K-Akt. Furthermore, the treatment is effective on adult neurons, where it induces spinogenesis and enhances the cognitive behavior of treated animals in a fear-conditioning assay. These findings demonstrate that functional synaptogenesis can be induced in mature mammalian brains through PI3K activation.
Altered Neural Responses to Sounds in Primate Primary Auditory Cortex during Slow-Wave Sleep
Authors: Issa Elias B. , Wang Xiaoqin
Published: February 2011

How sounds are processed by the brain during sleep is an important question for understanding how we perceive the sensory environment in this unique behavioral state. While human behavioral data have indicated selective impairments of sound processing during sleep, brain imaging and neurophysiology studies have reported that overall neural activity in auditory cortex during sleep is surprisingly similar to that during wakefulness. This responsiveness to external stimuli leaves open the question of how neural responses during sleep differ, if at all, from wakefulness. Using extracellular neural recordings in the primary auditory cortex of naturally sleeping common marmosets, we show that slow-wave sleep (SWS) alters neural responses in the primate auditory cortex in two specific ways. SWS reduced the sensitivity of auditory cortex such that quiet sounds elicited weak responses in SWS compared with wakefulness, while loud sounds evoked similar responses in SWS and wakefulness. Furthermore, SWS reduced the extent of sound-evoked response suppression. This pattern of alterations was not observed during rapid eye movement sleep and could not be easily explained by the presence of slow rhythms in SWS. The alteration of excitatory and inhibitory responses during SWS suggests limitations in auditory processing and provides novel insights for understanding why certain sounds are processed while others are missed during deep sleep.
Axonal Branching Patterns as Sources of Delay in the Mammalian Auditory Brainstem: A Re-Examination
Authors: Karino Shotaro , Smith Philip H. , Yin Tom C. T. , Joris Philip X.
Published: February 2011

In models of temporal processing, time delays incurred by axonal propagation of action potentials play a prominent role. A pre-eminent model of temporal processing in audition is the binaural model of Jeffress (1948), which has dominated theories regarding our acute sensitivity to interaural time differences (ITDs). In Jeffress' model, a binaural cell is maximally active when the ITD is compensated by an internal delay, which brings the inputs from left and right ears in coincidence, and which would arise from axonal branching patterns of monaural input fibers. By arranging these patterns in systematic and opposite ways for the ipsilateral and contralateral inputs, a range of length differences, and thereby of internal delays, is created so that the ITD is transformed into a spatial activation pattern along the binaural nucleus. We reanalyze single, labeled, and physiologically characterized axons of spherical bushy cells of the cat anteroventral cochlear nucleus, which project to binaural coincidence detectors in the medial superior olive (MSO). The reconstructions largely confirm the observations of two previous reports, but several features are observed that are inconsistent with Jeffress' model. We found that ipsilateral projections can also form a caudally directed delay line pattern, which would counteract delays incurred by caudally directed contralateral projections. Comparisons of estimated axonal delays with binaural physiological data indicate that the suggestive anatomical patterns cannot account for the frequency-dependent distribution of best delays in the cat. Surprisingly, the tonotopic distribution of the afferent endings indicate that low characteristic frequencies are under-represented rather than over-represented in the MSO.
Linking Topography to Tonotopy in the Mouse Auditory Thalamocortical Circuit
Authors: Hackett Troy A. , Rinaldi Barkat Tania , O'Brien Barbara M. J. , Hensch Takao K. , Polley Daniel B.
Published: February 2011

The mouse sensory neocortex is reported to lack several hallmark features of topographic organization such as ocular dominance and orientation columns in primary visual cortex or fine-scale tonotopy in primary auditory cortex (AI). Here, we re-examined the question of auditory functional topography by aligning ultra-dense receptive field maps from the auditory cortex and thalamus of the mousein vivowith the neural circuitry contained in the auditory thalamocortical slicein vitro. We observed precisely organized tonotopic maps of best frequency (BF) in the middle layers of AI and the anterior auditory field as well as in the ventral and medial divisions of the medial geniculate body (MGBv and MGBm, respectively). Tracer injections into distinct zones of the BF map in AI retrogradely labeled topographically organized MGBv projections and weaker, mixed projections from MGBm. Stimulating MGBv along the tonotopic axis in the slice produced an orderly shift of voltage-sensitive dye (VSD) signals along the AI tonotopic axis, demonstrating topography in the mouse thalamocortical circuit that is preserved in the slice. However, compared with BF maps of neuronal spiking activity, the topographic order of subthreshold VSD maps was reduced in layer IV and even further degraded in layer II/III. Therefore, the precision of AI topography varies according to the source and layer of the mapping signal. Our findings further bridge the gap betweenin vivoandin vitroapproaches for the detailed cellular study of auditory thalamocortical circuit organization and plasticity in the genetically tractable mouse model.
Active Expiration Induced by Excitation of Ventral Medulla in Adult Anesthetized Rats
Authors: Pagliardini Silvia , Janczewski Wiktor A. , Tan Wenbin , Dickson Clayton T. , Deisseroth Karl , Feldman Jack L.
Published: February 2011

Data from perinatal and juvenile rodents support our hypothesis that the preBötzinger complex generates inspiratory rhythm and the retrotrapezoid nucleus–parafacial respiratory group (RTN/pFRG) generates active expiration (AE). Although the role of the RTN/pFRG in adulthood is disputed, we hypothesized that its rhythmogenicity persists but is typically silenced by synaptic inhibition. We show in adult anesthetized rats that local pharmacological disinhibition or optogenetic excitation of the RTN/pFRG can generate AE and transforms previously silent RTN/pFRG neurons into rhythmically active cells whose firing is correlated with late-phase active expiration. Brief excitatory stimuli also reset the respiratory rhythm, indicating strong coupling of AE to inspiration. The AE network location in adult rats overlaps with the perinatal pFRG and appears lateral to the chemosensitive region of adult RTN. We suggest that (1) the RTN/pFRG contains a conditional oscillator that generates AE, and (2) at rest and in anesthesia, synaptic inhibition of RTN/pFRG suppresses AE.
Bax and Calpain Mediate Excitotoxic Oligodendrocyte Death Induced by Activation of Both AMPA and Kainate Receptors
Authors: Sánchez-Gómez María Victoria , Alberdi Elena , Pérez-Navarro Esther , Alberch Jordi , Matute Carlos
Published: February 2011

Sustained activation of AMPA and kainate receptors in rat oligodendrocytes induces cytosolic calcium overload, mitochondrial depolarization, and an increase of reactive oxygen species, resulting in cell death. Here, we provide evidence that Bax, a proapoptotic member of the Bcl-2 protein family, is involved in excitotoxic apoptotic death of oligodendrocytes and that calpain mediates Bax activation. Cultured Bax−/−oligodendrocytes, obtained from the optic nerve of Bax knock-out mice, were resistant to AMPA and kainate receptor-mediated insults. In turn, both mitochondrial calcium uptake and mitochondrial alterations after excitotoxic insults were diminished in Bax-null oligodendrocytes. Moreover, pretreatment with furosemide, a blocker of Bax translocation to mitochondria, significantly protected rat and mouse oligodendrocytes from AMPA- and kainate-induced damage; in contrast, bongkrekic acid, a blocker of the mitochondrial permeability transition pore, had no effect. Finally, we analyzed the participation of calpain, which cleaves Bax and is activated by AMPA and kainate, in oligodendrocyte death. Pretreatment with 3-(4-iodophenyl)-2-mercapto-(Z)-2-propenoic acid (PD150606), a broad cell-permeable calpain inhibitor, and two additional calpain inhibitors diminished Bax activation, inhibited its translocation to mitochondria, and attenuated all apoptotic events resulting from excitotoxic insults to rat oligodendrocytes. Together, these results indicate that Bax and calpain are essential intermediaries of the mitochondria-dependent death pathway, triggered by AMPA and kainate receptor activation in oligodendrocytes.
Activity-Dependent Ubiquitination of the AMPA Receptor Subunit GluA2
Authors: Lussier Marc P. , Nasu-Nishimura Yukiko , Roche Katherine W.
Published: February 2011

AMPA receptors (AMPARs) are postsynaptic glutamate-gated ion channels that mediate fast excitatory neurotransmission in the mammalian brain. Synaptic activity modulates the density of synaptic AMPARs, thereby affecting synaptic function, learning, and memory. Consequently, there is intense interest in defining the molecular mechanisms regulating AMPAR trafficking. Protein expression in the postsynaptic density of excitatory synapses is tightly regulated by ubiquitination, a posttranslational modification that dynamically regulates protein trafficking and degradation in response to synaptic activity. In this study, we demonstrate that increasing synaptic activity, via treatment with the GABAAreceptor antagonist bicuculline, rapidly and robustly induces ubiquitination of the GluA2 AMPAR subunit. Similarly, treatment with AMPAR agonists results in GluA2 ubiquitination, which suggests that ligand binding plays a critical role. Finally, we find that clathrin- and dynamin-dependent endocytosis of AMPARs is required for activity-dependent GluA2 ubiquitination. Our finding that GluA2 undergoes activity-dependent ubiquitination expands our understanding of how ubiquitination regulates synaptic plasticity.
Testosterone but not estradiol level is positively related to muscle strength and physical performance independent of muscle mass: a cross-sectional study in 1489 older men
Authors: Auyeung Tung Wai , Lee Jenny Shun Wah , Kwok Timothy , Leung Jason , Ohlsson Claes , Vandenput Liesbeth , Leung Ping Chung , Woo Jean
Published: February 2011

Objective

To examine the relationship between different measures of testosterone and estradiol (E2), muscle mass, muscle strength, and physical performance; and to test whether the association of sex hormone level with muscle strength and physical performance was independent of muscle mass.

Design and methods

A cross-sectional survey on 1489 community-dwelling men older than 64 years of age. Serum levels of testosterone and E2were measured by mass spectrometry, and sex hormone-binding globulin (SHBG) levels were measured by immunoradioassay. Muscle mass was examined by dual-energy X-ray absorptiometry and physical performance was assessed by hand-grip strength, gait speed, step length and chair-stand test.

Results

Appendicular skeletal mass (ASM) was positively associated with total testosterone (TT;P<0.001), free testosterone (FT;P<0.001), and total E2(P<0.001) but not with free E2(P=0.102). After adjustment for age, serum SHBG and relative ASM, both TT and FT were significantly associated with grip strength, narrow-walk speed and the composite neuromuscular score. Higher total E2, but not free E2was associated with lower grip strength (P<0.05) after adjustment for age, FT, SHBG and relative ASM.

Conclusions

Testosterone level was related to both muscle mass, strength and physical performance. Total E2level, though related to muscle mass positively, affected muscle strength adversely in older men.
Levitronix CentriMag Pump as Perioperative Left Ventricular Support in a Patient with Critical Aortic Stenosis, Mitral Regurgitation, and Cardiogenic Shock
Authors: Kettner Jiri , Skalsky Ivo , Levcik Marian
Published: February 2011

Severe aortic stenosis (AS) has a poor prognosis when associated with left ventricular dysfunction and congestive heart failure. Despite a relatively high operative mortality, most patients with severe AS and a depressed left ventricular ejection fraction (LVEF) should be considered candidates for aortic valve replacement. The CentriMag left ventricular assist system (Levitronix) can be used for perioperative or postcardiotomy circulatory support for the failing heart. In this case report, we report the successful use of the Levitronix CentriMag device as perioperative support in a high-risk patient with severe AS, significant mitral insufficiency, and a poor LVEF with advanced organ failure.
Continuous Elastomeric Pump-Based Ropivacaine Wound Instillation after Open Abdominal Aortic Surgery: How Reliable Is the Technique?
Authors: Baulig Werner , Maurer Konrad , Theusinger Oliver Michel , Hinselmann Valentin , Baulig Barbara , Spahn Donat Rudolph , Zalunardo Marco Piero
Published: February 2011

Introduction: We aimed at quantifying the impact of continuous wound infusion with ropivacaine 0.33% on morphine administration and subjective pain relief in patients after open abdominal aortic repair in a double-blind, placebo-controlled study.Methods: Before closing the abdominal wound, 2 multihole ON-Q Soaker Catheters (I-Flow Corporation, Lake Forest, California, USA) were placed pre-peritoneally in opposite directions. Either ropivacaine 0.33% or saline 0.9% was delivered by an elastomeric pump at a rate of 2 mL/h for 72 hours in each of the catheters. Postoperative pain and morphine administration were assessed using the numerical rating scale (NRS) in 4-hour intervals. Total plasma concentrations of ropivacaine, unbound ropivacaine, and 1-acid glycoprotein (AAG) were measured daily. Mean arterial pressure, pulse rate, oxygen saturation, total amount of morphine administration, ventilation time, and length of stay in the intensive care unit (ICU) were recorded. At the end of the study period, the wound site and the condition of the catheters were assessed.Results: The study was terminated prematurely due to a malfunction of the elastomeric balloon pump resulting in toxic serum levels of total ropivacaine in 2 patients (11.4 mol/L and 10.0 mol/L, respectively) on the second postoperative day. Six patients had been allocated to the ropivacaine group, and 9 patients had been allocated to the control group. Demographic and surgical data were similar in both groups. During the first 3 postoperative days, no difference between the ropivacaine and the control group was found in NRS (P = .15, P = .46, and P = .88, respectively) and morphine administration (P = .48). Concentrations of unbound serum ropivacaine (0.11 0.08 mol/L) were below toxic level in all patients.Conclusion: Continuous wound infusion of ropivacaine 0.33% 2 mL/h using an elastomeric system was not reliable and did not improve postoperative pain control in patients after open abdominal aortic surgery.
The Expert Witness Problem
Authors: Gray Peter R. A.
Published: February 2011

Judges in civil cases in common law courts need expert witnesses to resolve many issues, but distrust those experts. The distrust is partly due to judicial ignorance and partly to the perception that expert witnesses are beholden to their clients. Partisanship is a product of the common law adversarial system. Lawyers try to discredit expert witnesses, which discourages experts from wanting to give evidence. One court has adopted three strategies to make expert witnesses more effective: witnesses are advised that their duty is to the court, rather than the client; pre-trial conferences of opposing expert witnesses encourage them to agree on issues, and to identify issues they cannot agree on and the reasons for disagreement; and opposing expert witnesses give concurrent evidence during trials, in which they debate the issues between themselves, with the lawyers asking questions only once the debate ends. It is too early for proper evaluation of these steps, but early feedback is encouraging.
The use of textual, grammatical and sociolinguistic evidence in forensic text comparison:
Authors: Turell M. Teresa
Published: February 2011

This article suggests the usefulness of the concept of ‘idiolectal style’ in forensic text comparison and presents evidence that was used by the defence in a forensic authorship attribution case to show that the author of four non-disputed faxes could also be the author of four disputed emails, both sets written in Spanish. Apart from qualitative textual analysis, two different quantitative approaches were undertaken: a) the use of the concepts of markedness and saliency in order to establish the rarity in the frequency and use of two grammatical variables - by comparing their behaviour to the one observed in a general corpus - indicated in both data sets the favourite use of two variants - redundant yo and compound periphrastic relative pronoun el cual, and b) the statistical analysis of sequences of linguistic categories classified and grouped the texts in the two sets under analysis (and also a control text set from another real forensic case) very closely, showing their discriminatory potential, in particular when the sequences were bigrams, something which would lead to the conclusion that these two text sets were produced by the same author.
Automatic Speaker Recognition of Identical Twins
Authors: Künzel Hermann
Published: February 2011

Automatic speaker recognition systems typically rely on parameters derived from resonance features of the vocal tract. Th is implies that the more similar the geometry of two vocal tracts is, the more similar will be the respective similarity coeffi cients, or likelihood ratios (LRs). Quite obviously this problem is particularly relevant to related speakers, most extremely for identical (monozygotic) twins. Th is paper is about an experiment with 9 male and 26 female pairs of identical twins who produced one read and one spontaneous speech sample. An automatic system for forensic speaker recognition (Batvox 3.1) was used to calculateinter-speaker (non-target), (2) intratwin pair, and (3) intra-speaker (target) LR distributions. Results show that in certain conditions an automatic Bayesian-based system is capable of distinguishing even the vast majority of very similar sounding voices such as those of identical twins. However, the performance of the system used here was superior for male as compared
to female voices. Quite obviously the sex-related diff erence was enhanced by the genetic similarity factor.
Terms in Context: a Corpus-Based Analysis of the Terminology of the European Union's Development Cooperation Policy with the African, Caribbean and Pacific Group of States
Authors: Kast-Aigner Judith
Published: February 2011

Awarding Institution: WU Vienna, Austria
Date of Award: July 2009

Th is thesis investigates the terminology used in the Eurpoean Union’s
development cooperation agreements.
Lay People as Cross-Examiners: A Linguistic Analysis of the Libel Case McDonald's Corporation v. Helen Steel and David Morris
Authors: Tkačuková Tatiana
Published: February 2011

Awarding Institution: Masaryk University, Brno, Czech Republic
Date of Award: June 2010

The PhD. thesis offers a detailed survey of linguistic problems lay litigants-in-person experience when cross-examining in court. It is a single-case study and the material for the analysis is drawn from the libel case McDonald’s Corporation v. Helen Steel and David Morris (tried in the UK High Court between June 1994 and December 1996). The thesis contrasts cross-examination questions and strategies used by the pro se litigants (Steel and Morris) with those used by the professional counsel representing McDonald’s (R. Rampton QC). It also aims to explore whether in the course of the case the two litigants-in-person improved their cross-examination skills and learned from the counsel.
The thesis combines the quantitative approach with a qualitative analysis of the data. The quantitative part of the analysis is based on the corpus linguistics approach. The qualitative part draws on the methodology of conversation analysis, discourse analysis and the pragmatic approach.
The findings of the study show that the pro se litigants improve their cross-examination skills, but their development remains unstable.
Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening
Authors: Pinho Leandro Kasuki Jomori de , Vieira Neto Leonardo , Wildemberg Luiz Eduardo Armondi , Moraes Aline Barbosa , Takiya Christina M. , Frohman Lawrence A. , Korbonits Márta , Gadelha Mônica R.
Published: February 2011

We present four FIPA kindred discussing clinical and molecular data and emphasizing the differences regarding AIP status, as well as the importance of genetic screening. Family 1 consists of five patients harboring somatotropinomas with germline E24X mutation in AIP. In one of the patients, acromegaly was diagnosed through active screening, being cured by surgery. Families 2 and 3 are composed of two patients with non-functioning pituitary adenomas. Family 4 comprises patients harboring a prolactinoma and a somatotropinoma. No mutations in AIP were found in these families. No patient in Family 1 was controlled with octreotide treatment, while the acromegalic patient in Family 4 was controlled with octreotide LAR. In conclusion, FIPA is a heterogeneous condition, which may be associated with AIP mutation. Genomic and clinical screening is recommended in families with two or more members harboring pituitary adenomas, allowing early diagnosis and better outcome.
Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation
Authors: Soardi Fernanda Caroline , Esquiaveto-Aun Adriana Mangue , Guerra-Júnior Gil , Lemos-Marini Sofia Helena Valente de , de Mello Maricilda Palandi
Published: February 2011

X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in both male patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future.
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient
Authors: Costenaro Fabíola , Rodrigues Ticiana C. , Kater Claudio E. , Auchus Richard J. , Papari-Zareei Mahboubeh , Czepielewski Mauro A.
Published: February 2011

Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients with this form of CAH. The patient, raised as a normal female, sought medical care for lack of pubertal signs and primary amenorrhea at the age of 16 years. At evaluation, the presence of a 46,XY karyotype, hypertension and hypokalemia were observed. We emphasize the recognition of CYP17 deficiency in the differential diagnosis of cases of hypergonadotrophic hypogonadism and hypertension in young patients who need specific treatment for both situations.
Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
Authors: Mello Maricilda Palandi de , Coeli Fernanda Borchers , Assumpção Juliana Godoy , Castro Tammy Mazeo , Maciel-Guerra Andréa Trevas , Marques-de-Faria Antônia Paula , Baptista Maria Tereza Matias , Guerra-Júnior Gil
Published: February 2011

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.
Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene
Authors: Naves Luciana Ansaneli , Jaffrain-Rea Marie-Lise , Vêncio Sergio Alberto Cunha , Jacomini Clausmir Zaneti , Casulari Luiz Augusto , Daly Adrian F. , Beckers Albert
Published: February 2011

The objective of this study was to describe a familial screening for AIP mutations in the context of aggressive prolactinoma in childhood. A 12-year-old boy, presented headaches and bilateral hemianopsia. He had adequate height and weight for his age (50th percentile), Tanner stage G1 P1. His bone age was 10 years. Prolactin was 10.560 ng/mL (3-25), FSH and LH were undetectable, IGF-1, TSH, Free T4, ACTH, and cortisol were within normal ranges. MRI showed a pituitary macroadenoma, 5.3 X 4.0 X 3.5 cm with compression of the optic chiasm, bilateral cavernous sinus invasion, encasement of carotids, and extension to clivus. Surgical debulking was performed. Resistance to cabergoline was characterized and he was submitted to two surgeries and radiotherapy. Immunohistochemical evaluation included prolactin, ACTH, GH, FSH, LH,AIP, c-erb B2, Ki-67, and p53. Genomic DNA was isolated from the index case and 48 relatives, PCR and sequencing were performed.A germline A195V mutation in AIP was identified in the index case and in five asymptomatic relatives. Germline mutations in the AIP gene may be involved in the predisposition to pituitary adenoma formation, as cause or co-factor in pathogenesis of aggressive tumors in young patients.
Distúrbios metabólicos em doenças infecciosas emergentes e negligenciadas
Authors: Ponte Clarisse Mourão Melo , Gurgel Maria Helane Costa , Ponte Glaydson Assunção , Ramos Adriana Valéria Assunção , Montenegro Júnior Renan Magalhães
Published: February 2011

A substituição gradual e progressiva das doenças infecciosas e parasitárias pelas doenças crônico-degenerativas como causas de morbidade e mortalidade, caracterizando o processo de transição epidemiológica, não tem sido observada em várias populações, em especial em países subdesenvolvidos ou em desenvolvimento, verificando-se, na realidade, uma sobre-posição desses perfis (transição incompleta). Além do aumento da prevalência de distúrbios metabólicos, várias doenças infecciosas permanecem endêmicas em diversas regiões, como é o caso da hanseníase, da tuberculose, da leishmaniose, das hepatites virais, entre outras, assim como condições emergentes nas últimas décadas, como a infecção pelo HIV/Aids. Nesse contexto, nos últimos anos tem sido dada uma maior atenção para a ocorrência de distúrbios metabólicos, principalmente a partir da observação de elevada incidência dessas anormalidades associadas à infecção pelo HIV/Aids e à sua terapia com as drogas antirretrovirais. Nesta revisão são abordados aspectos clínico-epidemiológicos dos distúrbios metabólicos reportados em algumas enfermidades infectoparasitárias de relevância mundial e local (no Brasil), assim como possíveis mecanismos e fatores envolvidos nessas associações.
Benign childhood epilepsy with centro-temporal spikes: evolutive clinical, cognitive and EEG aspects
Authors: Tedrus Glória M.A.S , Fonseca Lineu C , Castilho Dioraci P , Pacheco Elizabeth M.C , Campregher Amanda A , Bittar Marina C
Published: February 2011

Thirty-two children with benign childhood epilepsy with centrotemporal spikes (BECTS) were studied for a mean period of 27.6 months. The characteristics of the seizures, electroencephalogram (EEG), WISC-III and School Performance Test were compared at the start and end of the study. Nine (28.1%) children continued having seizures. Epileptiform activity (EA) on the EEG reduced in number and was no longer recorded in 6 (18.7%) children. There was a significant improvement in the performance and perceptual organization IQ values. The improvement in reading performance failed to reach statistical significance. The performance in arithmetic worsened in 43.7% of the children, and this was associated with the persistence of epileptic seizures. There were no significant correlations between changes in cognitive aspects and characteristics of EA. There is a need to continue this study, and also search for other factors influencing the evolution of cognitive abilities in children with BECTS.
EEG changes during sequences of visual and kinesthetic motor imagery
Authors: Stecklow Marcus Vinicius , Infantosi Antonio Fernando Catelli , Cagy Maurício
Published: February 2011

The evoked cerebral electric response when sequences of complex motor imagery (MI) task are executed several times is still unclear. This work aims at investigating the existence of habituation in the cortical response, more specifically in the alpha band peak of parietal and occipital areas (10-20 international system electroencephalogram, EEG, protocol). The EEG signals were acquired during sequences of MI of volleyball spike movement in kinesthetic and visual modalities and also at control condition. Thirty right-handed male subjects (18 to 40 years) were assigned to either an 'athlete' or a 'non-athlete' group, both containing 15 volunteers. Paired Wilcoxon tests (with α=0.05) indicates that sequential MI of complex tasks promotes cortical changes, mainly in the power vicinity of the alpha peak. This finding is more pronounced along the initial trials and also for the athletes during the modality of kinesthetic motor imagery.
Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects
Authors: Aguiar Aline de Almeida Xavier , Carvalho André Ferrer , Costa Carlos Mauricio de Castro , Fernandes José Marcelino Aragão , D'Almeida José Artur Costa , Furtado Luís Edmundo Teixeira de Arruda , Cunha Francisco Marcos Bezerra da
Published: February 2011

A retrospective chart review was performed on patients diagnosed as having myasthenia gravis in Ceará State, Brazil and who were followed from October 1981 to June 2009. Clinical and epidemiologic aspects were evaluated. In this work, 122 patients were studied, of whom 85 (69.7%) were females and 37 (30.3%) were males. The disease duration ranged from five months to 50 years (8.9±8.1 years). Age at the first symptoms varied from 0 to 74 years (31.9±14.4 years). The first main symptoms and signs were ptosis, diplopia and limb weakness. Generalized myasthenia was the most common clinical presentation, but 5.1% (n=6) persisted as ocular myasthenia. Thymectomy was performed in 42.6% (n=52) of myasthenic patients. A thymoma was present in 10 patients. Serum acetylcholine receptor (AChR) antibodies were present in 80% (n=20) of specimens tested. The data presented are similar to those of studies performed in other countries.
Cognitive deficits in patients with mild to moderate traumatic brain injury
Authors: Miotto Eliane Correa , Cinalli Fernanda Zanetti , Serrao Valéria Trunkl , Benute Glaucia Guerra , Lucia Mara Cristina Souza , Scaff Milberto
Published: February 2011

Traumatic brain injury (TBI) is one of the most frequent causes of brain damage. Cognitive deficits reported in the literature after moderate to severe TBI include memory, language, executive functions, attention and information processing speed impairments. However, systematic studies on patients with mild TBI are scarce although neuropsychological changes are present. OBJECTIVE: To investigate the cognitive functioning of patients with mild to moderate TBI. METHOD: We evaluated 12 patients with mild to moderate TBI using a comprehensive protocol (PN01) of neuropsychological tests. RESULTS: There were significant deficits of episodic memory including immediate and delayed verbal memory recall, verbal recognition, immediate and delayed visual memory recall, naming, verbal fluency and information processing speed. CONCLUSION: These results emphasize the importance of comprehensive neuropsychological assessments even in cases of mild TBI in order to identify impaired and preserved functions providing adequate managing including rehabilitation programs for each case.
Componentes da produção e produtividade de cultivares de arroz e feijão em função de calcário e gesso aplicados na superfície do solo
Authors: Soratto Rogério Peres , Crusciol Carlos Alexandre Costa , Mello Francisco Fujita de Castro
Published: February 2011

A utilização do gesso agrícola e de cultivares mais tolerantes à acidez do solo podem ser alternativa para viabilizar o cultivo em sistema plantio direto sem a incorporação prévia do calcário. Este trabalho foi realizado com o objetivo de avaliar o efeito da aplicação superficial de calcário e gesso agrícola nos componentes da produção e na produtividade de grãos de cultivares de arroz e feijão. O experimento foi instalado em Latossolo Vermelho distroférrico, anteriormente manejado no sistema convencional de preparo do solo, em Botucatu (SP). O delineamento foi em blocos casualizados com parcelas sub-subdivididas e quatro repetições. Nas parcelas, os tratamentos foram os seguintes: quatro doses de calcário dolomítico (0, 1.100, 2.700 e 4.300 kg ha-1); nas subparcelas, aplicação ou não de 2.100 kg ha-1 de gesso agrícola; e nas sub-subparcelas, foram cultivadas duas cultivares de arroz de terras altas (Caiapó e IAC 202), no ano agrícola 2002/2003, e duas de feijão (Pérola e Carioca), em 2003/2004. O número de panículas por m², o número de espiguetas por panícula, a massa de mil grãos e a produtividade de grãos das cultivares de arroz aumentaram pela aplicação de calcário. A aplicação de gesso aumentou o número de panículas por m² e a produtividade de grãos da cultivar Caiapó, mas reduziu o número de panículas e não afetou a produtividade da cultivar IAC 202. A calagem, na ausência de gesso, aumentou o número de vagens por planta e a produtividade de grãos das cultivares de feijão. A aplicação de gesso reduziu o número de vagens por planta da cultivar Carioca de feijão, mas não alterou outros componentes da produção e a produtividade de grãos. A dose de calcário para elevar a saturação por bases a 70% foi a mais adequada para ambas as culturas. O uso de cultivares mais tolerantes à acidez do solo proporciona maior produtividade no início do sistema plantio direto, quando ainda não houve efetiva correção do solo pela aplicação de corretivos em superfície.
Spatial variability of soil CO2 emission in different topographic positions
Authors: Brito Liziane de Figueiredo , Marques Júnior José , Pereira Gener Tadeu , La Scala Junior Newton
Published: February 2011

The spatial variability of soil CO2 emission is controlled by several properties related to the production and transport of CO2 inside the soil. Considering that soil properties are also influenced by topography, the objective of this work was to investigate the spatial variability of soil CO2 emission in three different topographic positions in an area cultivated with sugarcane, just after mechanical harvest. One location was selected on a concave-shaped form and two others on linear-shaped form (in back-slope and foot-slope). Three grids were installed, one in each location, containing 69 points and measuring 90 x 90 m each. The spatial variability of soil CO2 emission was characterized by means of semivariance. Spatial variability models derived from soil CO2 emission were exponential in the concave location while spherical models fitted better in the linear shaped areas. The degree of spatial dependence was moderate in all cases and the range of spatial dependence for the CO2 emission in the concave area was 44.5 m, higher than the mean value obtained for the linear shaped areas (20.65 m). The spatial distribution maps of soil CO2 emission indicate a higher discontinuity of emission in the linear form when compared to the concave form.
Spatial variability of microbial biomass and organic matter labile pools in a haplic planosol soil
Authors: Loureiro Diego Campana , De-Polli Helvécio , Ceddia Marcos Bacis , Aquino Adriana Maria de
Published: February 2011

The objective of this work was to study the spatial variability of soil microbial biomass (SMB) and labile soil organic matter pools (labile SOM), under different management systems and plant cover. The experiment was conducted in a Haplic Planosol soil on an Integrated Agroecological Production System (SIPA), in Seropédica, Rio de Janeiro. The evaluated management systems were: alley cropping, pasture, and bush garden, the late one was used as reference area. Three grids of regular spacing of 2.5 x 2.5 meters were used for sampling, consisting of 25 georeferenced points each, where soil samples were taken at 0-10 cm depth. The following labile constituents of soil organic matter were determined: free light fraction (FLF), water soluble C and N, C and N of SMB (SMB-C and SMB-N), and glomalin content. The textural fractions (sand, silt, and clay), pH in water, and chemical attributes (organic C, total N, Ca, Mg, Al, P, K, and CEC-cation exchange capacity) were also determined. The areas of alley cropping and pasture showed spatial dependence to the attributes of SOM. The occurrence of high spatial dependence for the attributes associated to microbial biomass in the alley cropping system (C, FLF, SMB-N and respiration), probably was due to external factors related to management, such as: intensive rotational cropping system, diversity of crops and different inputs of organic matter to soil such as pruning material and organic compost.
Evolution of the soil surface roughness using geostatistical analysis
Authors: Vázquez Eva Vidal , Bertol Ildegardis , Siqueira Glécio Machado , Paz-Ferreiro Jorge , Dafonte Jorge Dafonte
Published: February 2011

The objective of this work was to investigate the decay of initial surface roughness induced by simulated rainfall under different soil residue cover and to compare classical statistical indices with geostatistical parameters. A conventionally tilled loamy soil with low structure stability, thus prone to crusting was placed at 1 m² microplots. Each microplot received three successive rainfall events which bring about cumulative 25 mm, 50 mm and 75 mm at 65 mm h-1 intensity. Five treatments without replication were tested with different corn straw quantities (0, 1, 2, 3 and 4 Mg ha"1). Soil surface microrelief was measured at the initial stage and after each simulated rainfall event. Five treatments and four surface stages were monitored, resulting in 20 data sets. Point elevation data were taken at 0.03 m intervals using a pinmeter. Digital elevation models were generated and analysed using semivariograms. All data sets showed spatial dependence and spherical models were fitted to experimental semivariograms. A very significant relationship was found between the random roughness index, RR, and the sill of the semivariogram (C0+C1). All the treatments showed a clear trend to sill value reduction with increasing precipitation. However, roughness decay was lower in treatments with higher straw cover (3 and 4 Mg ha-1). Therefore, residue cover limited soil surface roughness decline. The control treatment, without straw, showed the lowest nugget effect (C0), which means the lowest spatial discontinuity of all treatments in this study. The range of spatial dependence (a) also showed a trend to decrease with increased cumulative rain, which was most apparent in treatments without or with relatively low straw cover (0, 1 and 2 Mg ha-1). The suitability of using sill variance and range for describing patterns of soil surface microrelief decline is discussed.