[Anticholinergic scales: Use in psychiatry and update of the anticholinergic impregnation scale]. / Les échelles anticholinergiques : usage en psychiatrie et mise à jour de l'échelle d'imprégnation anticholinergique.

Anticholinergic properties are well known to prescribers, notably in mental health, as a therapeutic strategy for i.e. extrapyramidal syndrome but also as a source of numerous adverse side effects. Herein, we propose a narrative literature review describing: (i) cholinergic pharmacology and anticholinergic properties; (ii) the importance of anticholinergic therapeutic properties in psychiatry; (iii) the existing anticholinergic drug scales and their usage limitations in Psychiatry and; last (iv) an update to the anticholinergic drug impregnation scale, designed for the French psychiatry practice. The anticholinergic side effects can appear both in the peripheral level (dry mouth, constipation, etc.) and in the central level (especially as cognitive deficits). Many of the so called « anticholinergic ¼ drugs are in fact entirely or mostly antimuscarinic and act essentially as parasympathetic system antagonists. Overall, anticholinergic/antimuscarinic side effects are usually attributed to psychotropic medications: to certain antipsychotics, notably classical neuroleptics such as phenothiazine and also to tricyclic antidepressants. In practice, the impact of anticholinergic toxicity treatments is often highlighted due to their excessively prolonged use in patients on antipsychotics. Interestingly, these antipsychotic treatments are better known for their anticholinergic side effects, especially cognitive ones, with an early onset specially in elder patients and/or in the case of polymedication. In order to evaluate anticholinergic side effects, metrics known as anticholinergic burden scales were created in the last few decades. Nowadays, 13 different scales are documented and accepted by the international academic community, but only three of them are commonly used: the Anticholinergic Drug Scale (ADS), the Anticholinergic Risk Scale (ARS) and the Anticholinergic Burden Scale (ACB). All of them are based on a similar principle, consisting of grading treatments individually, and they are normally scored from 0 - no presence of side effects - to 3 - anticholinergic effects considered to be strong or very strong. Using these scales enables the calculation of the so-called "anticholinergic burden", which corresponds to the cumulative effect of using multiple medications with anticholinergic properties simultaneously. The application of anticholinergic scales to patients with psychiatric disorders has revealed that schizophrenic patients seem to be especially sensitive to anticholinergic cognitive side effects, while elder and depressed patients were more likely to show symptoms of dementia when exposed to higher anticholinergic burden. Unfortunately, these tools appear to have a low parallel reliability, and so they might induce large differences when assessing side effects predictability. In addition, the capacity of these scales to predict central adverse effects is limited due to the fact they poorly or do not differentiate, the ability of treatments to cross the blood-brain barrier. Finally, one last limitation on the validity of these scales is prescription posology is not accounted for side effects considered to be dose dependent. Recently, the MARANTE (Muscarinic Acetylcholine Receptor ANTagonist Exposure) scale has incorporated an anticholinergic burden weighting by posology. Nevertheless, this new model can be criticized, due to the limited number of medications included and due to testing a limited number of potency ranges and dosages for each treatment. Herein, we propose an update to the Anticholinergic Impregnation Scale, developed specifically for the French Psychiatry practice. The scale validation was based on an evaluation of the prescriptions correcting anticholinergic peripheral side effects (constipation, xerostomia and xeropthalmia). This indirect evaluation allowed us to show patients with an anticholinergic impregnation score higher than 5 received significantly more treatments for constipation and xerostomia. This strategy bypasses the bias of a cognitive evaluation in patients with severe mental health disorders. Moreover, the relevance of a tool developed specifically for French psychiatry is justified by the fact that some highly prescribed treatments for mental illness in France (cyamemazine and tropatemine) are strong anticholinergics, and also by the fact they are rarely included in the existing anticholinergic scales. This update of the original scale, published in 2017, includes information whether prescribed drugs cross the blood-brain barrier and thus makes possible a more accurate assessment when evaluating anticholinergic central side effects. Finally, the anticholinergic impregnation scale will soon be integrated into a prescription help software, which is currently being developed to take into consideration dose dependent adverse effects.

Manipulating twisted electrons in strong-field ionization.

We investigate the discrete orbital angular momentum (OAM) of photoelectrons freed in strong-field ionization. We use these 'twisted' electrons to provide an alternative interpretation on existing experimental work of vortex interferences caused by strong field ionization mediated by two counter-rotating circularly polarized pulses separated by a delay. Using the strong field approximation, we derive an interference condition for the vortices. In computations for a neon target we find very good agreement of the vortex condition with photoelectron momentum distributions computed with the strong field approximation, as well as with the time-dependent methods Qprop and R-Matrix. For each of these approaches we examine the OAM of the photoelectrons, finding a small number of vortex states localized in separate energy regions. We demonstrate that the vortices arise from the interference of pairs of twisted electron states. The OAM of each twisted electron state can be directly related to the number of arms of the spiral in that region. We gain further understanding by recreating the vortices with pairs of twisted electrons and use this to determine a semiclassical relation for the OAM. A discussion is included on measuring the OAM in strong field ionization directly or by employing specific laser pulse schemes as well as utilizing the OAM in time-resolved imaging of photo-induced dynamics.

Psychotropics and COVID-19: An analysis of safety and prophylaxis.

The use of psychotropics during the COVID-19 pandemic has raised two questions, in order of importance: first, what changes should be made to pharmacological treatments prescribed to mental health patients? Secondly, are there any positive side effects of these substances against SARS-CoV-2? Our aim was to analyze usage safety of psychotropics during COVID-19; therefore, herein, we have studied: (i) the risk of symptomatic complications of COVID-19 associated with the use of these drugs, notably central nervous system activity depression, QTc interval enlargement and infectious and thromboembolic complications; (ii) the risk of mistaking the iatrogenic impact of psychotropics with COVID-19 symptoms, causing diagnostic error. Moreover, we provided a summary of the different information available today for these risks, categorized by mental health disorder, for the following: schizophrenia, bipolar disorder, anxiety disorder, ADHD, sleep disorders and suicidal risk. The matter of psychoactive substance use during the pandemic is also analyzed in this paper, and guideline websites and publications for psychotropic treatments in the context of COVID-19 are referenced during the text, so that changes on those guidelines and eventual interaction between psychotropics and COVID-19 treatment medication can be reported and studied. Finally, we also provide a literature review of the latest known antiviral properties of psychotropics against SARS-CoV-2 as complementary information.

It is all about phases: ultrafast holographic photoelectron imaging.

Photoelectron holography constitutes a powerful tool for the ultrafast imaging of matter, as it combines high electron currents with subfemtosecond resolution, and gives information about transition amplitudes and phase shifts. Similarly to light holography, it uses the phase difference between the probe and the reference waves associated with qualitatively different ionization events for the reconstruction of the target and for ascertaining any changes that may occur. These are major advantages over other attosecond imaging techniques, which require elaborate interferometric schemes in order to extract phase differences. For that reason, ultrafast photoelectron holography has experienced a huge growth in activity, which has led to a vast, but fragmented landscape. The present review is an organizational effort towards unifying this landscape. This includes a historic account in which a connection with laser-induced electron diffraction is established, a summary of the main holographic structures encountered and their underlying physical mechanisms, a broad discussion of the theoretical methods employed, and of the key challenges and future possibilities. We delve deeper in our own work, and place a strong emphasis on quantum interference, and on the residual Coulomb potential.

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy.

Ependymomas are common childhood brain tumours that occur throughout the nervous system, but are most common in the paediatric hindbrain. Current standard therapy comprises surgery and radiation, but not cytotoxic chemotherapy as it does not further increase survival. Whole-genome and whole-exome sequencing of 47 hindbrain ependymomas reveals an extremely low mutation rate, and zero significant recurrent somatic single nucleotide variants. Although devoid of recurrent single nucleotide variants and focal copy number aberrations, poor-prognosis hindbrain ependymomas exhibit a CpG island methylator phenotype. Transcriptional silencing driven by CpG methylation converges exclusively on targets of the Polycomb repressive complex 2 which represses expression of differentiation genes through trimethylation of H3K27. CpG island methylator phenotype-positive hindbrain ependymomas are responsive to clinical drugs that target either DNA or H3K27 methylation both in vitro and in vivo. We conclude that epigenetic modifiers are the first rational therapeutic candidates for this deadly malignancy, which is epigenetically deregulated but genetically bland.

Design of a Multipoint Cost-Effective Optical Instrument for Continuous In-Situ Monitoring of Turbidity and Sediment.

A cost-effective optical instrument for continuous in-situ monitoring applications is presented. With a production cost in raw materials of 38 €, a power consumption of 300 A in sleep mode and 100 mA in active mode (5 ms reading), and a capacity to monitor turbidity and sedimentary displacement at eight different depths in the water column, the sensor was developed for sediment monitoring in coastal areas. Due to the extent and dynamics of the processes involved in these areas, observations require a wide spatial and temporal resolution. Each of the eight monitoring nodes uses one infrared backscatter channel, to estimate turbidity and sediment concentration, and one ultraviolet with one infrared transmitted light channels to distinguish organic/inorganic composition of the suspended material load. An in-lab calibration was conducted, using formazine to correlate turbidity with the electronic outputs of the instrument. An analysis of the influence of external light sources and correction techniques were performed. Moreover, an in-lab experiment was conducted to study the behaviour of the sensor-to-sediment transport, wash load and sediment accumulation. The device was deployed, with a water level sensor, in an estuarine area with high sediment dynamics. The monitoring data were analysed, showing the potential of the device to continuously monitor turbidity, sediment processes, and distinguish between organic and inorganic matter, at the different depths in the water column.

Development of a Cost-Effective Optical Sensor for Continuous Monitoring of Turbidity and Suspended Particulate Matter in Marine Environment.

A cost-effective optical sensor for continuous in-situ monitoring of turbidity and suspended particulate matter concentration (SPM), with a production cost in raw materials less than 20 €, is presented for marine or fluvial applications. The sensor uses an infrared LED and three photodetectors with three different positions related to the light source-135º, 90º and 0º-resulting in three different types of light detection: backscattering, nephelometry and transmitted light, respectively. This design allows monitoring in any type of environment, offering a wide dynamic range and accuracy for low and high turbidity or SPM values. An ultraviolet emitter-receiver pair is also used to differentiate organic and inorganic matter through the differences in absorption at different wavelengths. The optical transducers are built in a watertight structure with a radial configuration where a printed circuit board with the electronic signal coupling is assembled. An in-lab calibration of the sensor was made to establish a relation between suspended particulate matter (SPM) or the turbidity (NTU) to the photodetectors' electrical output value in Volts. Two different sizes of seashore sand were used (180 µm and 350 µm) to evaluate the particle size susceptibility. The sensor was tested in a fluvial environment to evaluate SPM change during sediment transport caused by rain, and a real test of 22 days continuous in-situ monitoring was realized to evaluate its performance in a tidal area. The monitoring results were analysed, showing the SPM change during tidal cycles as well as the influence of the external light and biofouling problems.

Strategies of anaerobic sludge granulation in an EGSB reactor.

Anaerobic sludge granulation was evaluated in an expanded granular sludge bed (EGSB) reactor based on the increases in the specific organic loading rate (SOLR). The effect of precursor substances (calcium chloride, sodium chloride, and tannin) on the development of granular sludge was also investigated in batch reactors. The reactors were fed with synthetic sewage and operated in mesophilic conditions. The EGSB was operated with a variable hydraulic retention time (HRT) and the batch reactors, with cycles of 8 h and 16 h. The increase of SOLR from 17.4 ±â€¯7.4 to 104.6 ±â€¯66.7 mgCOD gVSS-1 d-1 in the EGSB resulted in an increase on the average granules diameter from 344.3 to 1583.3 µm. These conditions also favored the reduction rates of chemical oxygen demand (COD) and volatile fatty acids (VFAs) concentration in the reactor. When the upflow velocity suffered an abrupt increase (from 0.06 L h-1 to 0.25 L h-1), the granules size began to decrease and lose their settleability characteristics. Considering this, it is proposed to start the biomass granulation process without effluent recirculation, and, after the granules reach the desired size and settleability capacity, the normal operation of EGSB reactor starts. The results showed that calcium chloride was more efficient for granulation. CaCl2 addition can be performed only during the reactor's start-up, improving granulation and reducing start-up time. Thus, these results have practical implications as granules maintenance is the key to the proper EGSB operation.

Low socio-economic status is a newly identified independent risk factor for poor vitamin D status in severely obese adults.

BACKGROUND: Hypovitaminosis D is very prevalent, especially in the obese population. However, the degree of severity and the parameters involved in vitamin D deficiency in this population are still unclear. The present study aimed to identify, from among the factors known to influence vitamin D status in a healthy population, those impacting the same parameter in obese population. METHODS: Serum 25-OH-D concentration was measured in 564 patients with class III obesity [i.e. severe and morbid obesity; mean (SD) body mass index (BMI) 42.04 (6.92) kg m-2 ] and their demographic, clinical, biological, anthropometric, dietary and socio-economic data were collected. RESULTS: We observed that 96% of the obese patients had serum 25-OH-D lower than 30 ng mL-1 . Severe vitamin D deficiency (serum 25-OH-D concentration <10 ng mL-1 ) affected 35% of this population. We found an inverse relationship between 25-OH-D levels and BMI (P = 0.012), fat mass (P = 0.041), metabolic syndrome (P < 0.0001), fasting blood glucose (P = 0.023), homeostasis model assessment for insulin resistance (P = 0.008), waist circumference (P = 0.001), and fasting blood triglycerides (P = 0.002) and C-reactive protein (P = 0.005). Low socio-economic status independently increased the risk of severe vitamin D deficiency [odds ratio (OR) = 1.98; 95% confidence interval (CI) 1.25-3.13], especially in the autumn-winter season (OR = 2.94; 95% CI 1.98-4.36), morbid obesity (OR = 3.19; 95% CI 1.49-6.82), metabolic syndrome (OR = 1.6; 95% CI 1.06-2.42) and inflammation (OR = 1.03; 95% CI 1.01-1.06). CONCLUSIONS: Vitamin D deficiency is extremely common among obese patients, and the prevalence of severe deficiency is high. The association of adiposity, high body mass index, metabolic syndrome and inflammation with vitamin D status is marked, whereas low socio-economic status appears to be a major risk factor for severe vitamin D deficiency, suggesting that vitamin D deficiency may at least in part be responsible for the greater health vulnerability of populations with low socio-economic status.

Central and peripheral fat body mass have a protective effect on osteopenia or osteoporosis in adults and elderly?

UNLABELLED: This cross-sectional study involves randomly selected men aged 50 to 99 years and postmenopausal women. Either central fat mass or peripheral fat mass were associated to osteoporosis or osteopenia independently from fat-free body mass and other confounding factors. INTRODUCTION: Obesity and osteoporosis are public health problems that probably share common pathophysiological mechanisms. The question if body fat mass, central or peripheral, is protective or harmful for osteoporosis or osteopenia is not completely resolved. This study aims to investigate the association between osteoporosis or osteopenia, and fat body mass (central and peripheral) independently from fat-free body mass, in men aged 50 to 99 years old and postmenopausal women randomly selected in the community. METHODS: This is a cross-sectional investigation with a random sample of registered population in Niterói Family Doctor Program (FDP), State of Rio de Janeiro, Brazil. Bone mineral density (BMD) and fat-free mass were assessed by dual X-ray absorptiometry (DXA). RESULTS: There was statistically significant bivariate association between bone loss with gender, age, skin color, alcohol consumption at risk dose, use of thiazide, fat-free body mass, and fat body mass (central and peripheral). In the multiple analysis of fat-free body mass, central and peripheral fat body mass showed an independent and protective effect on the presence of osteoporosis or osteopenia (p value <0.001). CONCLUSION: Since both obesity and osteoporosis are public health problems worldwide, strategies aimed at preventing both conditions should be encouraged during aging.

Controlling Below-Threshold Nonsequential Double Ionization via Quantum Interference.

We show through simulation that quantum interference in nonsequential double ionization can be used to control the recollision excitation with subsequent ionization (RESI) mechanism. This includes the shape, localization, and symmetry of RESI electron-momentum distributions, which may be shifted from a correlated to an anticorrelated distribution or vice versa, far below the direct ionization threshold intensity. As a testing ground, we reproduce recent experimental results by employing specific coherent superpositions of excitation channels. We examine two types of interference, from electron indistinguishability and intracycle events, and from different excitation channels. These effects survive focal averaging and transverse-momentum integration.

Evaluation of anionic surfactant removal in anaerobic reactor with Fe(III) supplementation.

The objective of this study was to evaluate the removal of linear alkylbenzene sulfonate (LAS) associated with Fe(III) supplementation using an expanded granular sludge bed (EGSB) reactor. The reactor was inoculated with a granular sludge and fed with synthetic wastewater containing a specific LAS load rate (SLLR) of 1.5 mg gVS-1 d-1 (∼16.4 mgLAS L-1 influent) and supplied with 7276 µMol L-1 of Fe(III). The biomasses from the inoculum and at the end of the EGSB-Fe operation (127 days) were characterized using 16S rRNA Ion Tag sequencing. An increase of 20% in the removal efficiency was observed compared to reactors without Fe(III) supplementation that was reported in the literature, and the LAS removal was approximately 84%. The Fe(III) reduction was dissimilatory (the total iron concentration in the influent and effluent were similar) and reached approximately 64%. The higher Fe(III) reduction and LAS removal were corroborated by the enrichment of genera, such as Shewanella (only EGSB-Fe - 0.5%) and Geobacter (1% - inoculum; 18% - EGSB-Fe). Furthermore, the enrichment of genera that degrade LAS and/or aromatic compounds (3.8% - inoculum; 29.6% - EGSB-Fe of relative abundance) was observed for a total of 20 different genera.

A comparison of toxicity and health care resource use between eribulin, capecitabine, gemcitabine, and vinorelbine in patients with metastatic breast cancer treated in a community oncology setting.

BACKGROUND: Capecitabine (C), gemcitabine (G), and vinorelbine (V) are commonly used as single agents in patients with metastatic breast cancer. Eribulin (E) is one of the most recent cytotoxic agents to gain regulatory approval for metastatic breast cancer in the United States as a single agent. EMBRACE - a large randomized trial demonstrated the safety and overall survival benefit of eribulin in heavily pretreated metastatic breast cancer patients compared to treatment of physician's choice. In this analysis, toxicity and the associated health care resource use were compared between the four agents in a sample of metastatic breast cancer patients treated in a US community oncology setting. METHODS: This study identified 411 patients (C=144, G=81, V=96, and E=90) who were treated in 19 community oncology clinics over the preceding two-year period. Data collection included baseline patient and disease characteristics, duration of therapy, use of supportive care drugs, type of dose limiting toxicities, and their impact on overall health care resource use. RESULTS: The median lines of therapy for C, G, V, and E were second, third, third, and fourth, respectively. Patients were comparable with respect to baseline comorbidities, performance status, serum creatinine, hemoglobin, neutrophil, and platelet counts. The proportion reporting at least one adverse event (any grade) with C, G, V, and E was 45%, 65%, 75%, and 63%. The most commonly reported toxicities (regardless of grade) for C, G, and V were diarrhea (19.4%), anemia (34.6%), and neutropenia (50.0%), respectively. The most common toxicity for E was neutropenia (32.2%). Overall, 5.6%, 19.8%, 22.9%, and 22.2% of patients receiving C, G, V, and E required at least one medical intervention to manage a toxic event. Toxicity was the cause of treatment discontinuation in 25.7%, 8.6%, 11.5%, and 8.9% of C, G, V, and E patients, respectively. The primary cause for treatment discontinuation in all four cohorts was disease progression. CONCLUSIONS: Eribulin demonstrated a comparable patient safety profile to gemcitabine and vinorelbine, even when administered after three lines of prior therapies. Capecitabine was generally used in earlier lines, had less neutropenia and anemia, but more treatment discontinuations due to toxicity.

Effectiveness of a palliative care outpatient programme in improving cancer-related symptoms among ambulatory Brazilian patients.

The focuses of palliative care are to provide symptom relief and improve quality of life through an interdisciplinary approach. Previous studies conducted to evaluate the effectiveness of palliative care in reducing symptom distress among outpatients confirmed the importance of the palliative care approach. To our knowledge, there is no published information from Brazil regarding the impact of a palliative care outpatient programme in reducing symptom distress. Symptom scores from 232 patients were measured using Edmonton Symptom Assessment System scales in two consecutive consults. Changes in symptoms at follow-up visit were analysed using Wilcoxon signed-rank paired test. The symptom subtraction indices (SSI) (follow-up scores minus baseline scores) were calculated and then analysed with Spearman's correlation. Edmonton Symptom Assessment System median scores at follow-up visits were statistically significant reduced in all symptoms evaluated. All the SSI positively correlated with well-being-SSI. Other important SSI correlations were: fatigue-SSI and anxiety-SSI, and fatigue-SSI and dyspnoea-SSI. Our palliative care outpatient programme was able to provide a significant improvement in the symptoms evaluated. The well-being-SSI was positively correlated with all the SSI, verifying that the control of symptoms in palliative care is essential for the patient well-being. Adequate/inadequate control of specifically symptoms seems to indirectly improve/worsen other symptoms.

Tissue-specific adaptive levels of glucocorticoid receptor alpha mRNA and their relationship with insulin resistance.

Insulin resistance is an underlying cause of metabolic changes associated with cardiovascular diseases. Glucocorticoids are known determinant factors of insulin resistance. We quantified glucocorticoid receptor alpha (GRα) mRNA and 11 beta-hydroxysteroid dehydrogenase type 1 (11ß-HSD1) mRNA in various tissues of 35 patients with previously established cardiovascular disease. This was a prospective study in a cardiac surgery patient setting. Samples of subcutaneous adipose tissue, epicardial fat, muscle, and peripheral blood mononuclear cells were examined. GRα and 11ß-HSD1 mRNA were determined by real-time PCR. Mean age was 54.4 years. A significantly higher level of GRα mRNA was observed in muscle, with mean = 43.6 arbitrary units, median (p25-p75) = 39.4, compared to epicardial adipose tissue, with mean = 34.2, median (p25-p75) = 27.6, and to subcutaneous adipose tissue, with mean = 29.0, median (p25-p75) = 19.0, and lymphocytes, with mean = 17.5, median (p25-p75) = 14.02. When patients with diabetes mellitus were compared to patients without insulin resistance, significantly lower levels of GRα mRNA were observed in epicardial fat. Lymphocytes had the lowest 11ß-HSD1 mRNA concentration. We also observed significantly reduced 11ß-HSD1 mRNA levels in visceral fat when compared with muscle tissue. GRα and 11ß-HSD1 mRNA levels differed among tissues involved in the pathophysiology of metabolic syndrome. We conclude that epicardial adipose tissue has lower GRαmRNA levels in insulin-resistant patients; this seems to be an adaptive and protective mechanism.

Development of an automated sensor for in-situ continuous monitoring of streambed sediment height of a waterway.

The sedimentary processes play a major role in every aquatic ecosystem, however, there are few automated options for in-situ monitoring of sediment displacement in the streambed of waterways. We present an automated optical instrument for in-situ continuous monitoring of sediment deposition and erosion of the streambed that requires no calibration. With a production cost of 32€, power consumption of 300 µA in sleep mode, and capacity to monitor the bedform of a waterway, the sensor was developed to evaluate the sediment dynamics of coastal areas with a wide spatial and temporal resolution. The novel device is intended to be buried in the sand and uses 32 infrared channels to monitor the streambed sediment height. For testing purposes, a maximum measuring length of 160 mm and 5 mm resolution was chosen, but these values are scalable. Sensors can be built with different ranges and precision according to the needs of the fieldwork. A laboratory experiment was conducted to demonstrate the working principle of the instrument and its behaviour regarding the turbidity originated by suspended sediment and the settling and deposition of the suspended particles. The device was deployed for 119 days in an estuarine area and was able to detect patterns in the sediment deposition and resuspension during the tidal cycles. Also, abnormal events occurred during the experiment as floods and algae blooms. During these events, the sensor was able to record exceptional erosion and sediment deposition rates. The reported automated instrument can be broadly used in sedimentary studies or management and planning of fluvial and maritime infrastructures to provide real-time information about the changes in the bedform of the watersheds.

How a discerning cytological examination can aid in the diagnosis of infectious diseases: case reports.

Infections caused by uncommon and resistant pathogens in unusual sites have been increasingly reported in medical literature. We describe four cases of rare cytological findings and clinical impact for patients. In the first case, Aspergillus sp and Pneumocystis jirovecii were observed in the bronchoalveolar lavage of a patient with severe systemic lupus. In the second and third cases, we describe the presence of Trichomonas sp and Strongyloides sp larvae in samples of pleural and peritoneal fluid, respectively. The fourth report is about a patient with a wrist subcutaneous nodule whose synovial aspiration and cytology revealed the presence of brown septate hyphae. The early identification of the infectious agent in the cytological examination was essential for the introduction and/or re-adaptation of therapy in the four cases described. Patients in this report were immunocompromised with severe comorbidities, conditions often associated with unfavorable clinical outcomes.

Applicability of real-time PCR methodology in the neonatal detection of Turner syndrome.

Turner syndrome (TS) is the complete or partial loss of the second sex chromosome, occurring in 1:5 000 girls. Early recognition allows appropriate therapy for short stature and puberty. Neonatal diagnosis of TS permits detection of associated malformations, minimizing sequels. Aiming to develop a molecular method for the diagnosis of TS we employed blood samples stored on filter paper. We evaluated 78 female controls, 25 TS girls with 45,X karyotype, and 32 TS patients with other karyotypes. After DNA extraction, samples were submitted to real-time PCR, using primers and probes directed to the study gene ARSE and to the control gene GAPDH. A ROC curve established the ARSE:GAPDH ratio with a cutoff value of 0.7. Low ARSE:GAPDH ratio of <0.7 was present in 100% of 45,X TS patients. This cutoff value presented a sensitivity of 100% and a specificity of 100% in detecting 45,X TS patients with a positive predictive value of 100% and a negative predictive value of 100%. The same cutoff value was able to identify only 56% of TS with other karyotypes, in which we observed a mean (SD) ARSE:GAPDH ratio=0.66 (0.2); and the interquartile range=0.4-0.8. Determination of ARSE:GAPDH ratio is a fast, sensitive, and specific method, with viable cost and feasible automation, which makes it potentially applicable in neonatal screening programs for the diagnosis of Turner syndrome 45,X.

Genetic correlations between categorical morphological traits in Nelore cattle by applying Bayesian analysis under a threshold animal model.

In this study, Bayesian analysis under a threshold animal model was used to estimate genetic correlations between morphological traits (body structure, finishing precocity and muscling) in Nelore cattle evaluated at weaning and yearling. Visual scores obtained from 7651 Nelore cattle at weaning and from 4155 animals at yearling, belonging to the Brazilian Nelore Program, were used. Genetic parameters for the morphological traits were estimated by two-trait Bayesian analysis under a threshold animal model. The genetic correlations between the morphological traits evaluated at two ages of the animal (weaning and yearling) were positive and high for body structure (0.91), finishing precocity (0.96) and muscling (0.94). These results indicate that the traits are mainly determined by the same set of genes of additive action and that direct selection at weaning will also result in genetic progress for the same traits at yearling. Thus, selection of the best genotypes during only one phase of life of the animal is suggested. However, genetic differences between morphological traits were better detected during the growth phase to yearling. Direct selection for body structure, finishing precocity and muscling at only one age, preferentially at yearling, is recommended as genetic differences between traits can be detected at this age.