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Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it is important to understand the cellular consequences of this extra marker, as well the factors that contribute to their maintenance or elimination through successive cell cycles and phenotypic impact. The study of chromosomal mosaicism provides a natural model to characterize the effect of aneuploidy on genome stability and compare cells with the same genetic background and environment exposure, but differing in the presence of sSMC. Here, we report the functional characterization of different cell lines from two familial patients with mosaic sSMC derived from chromosome 12. We performed studies of proliferation dynamics, stability, and variability of these cells using fluorescent in situ hybridization (FISH), sister chromatid exchanges (SCE), and conventional staining. We also quantified the telomere-related genomic instability of sSMC cells using 3D telomeric profile analysis by quantitative-FISH. sSMC cells exhibited differences in the cell cycle dynamics compared to normal cells. First, the sSMC cells exhibited lower proliferation index and higher frequency of SCE than normal cells, associated with a higher level of chromosomal instability. Second, sSMC cells exhibited more telomeric-related genomic instability. Lastly, the differences of sSMC cells distribution among tissues could explain different phenotypic repercussions observed in patients. These results will help in our understanding of the sSMC stability, maintenance during cell cycle, and the cell cycle variables involved in the different phenotypic manifestations.

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Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it is important to understand the cellular consequences of this extra marker, as well the factors that contribute to their maintenance or elimination through successive cell cycles and phenotypic impact. The study of chromosomal mosaicism provides a natural model to characterize the effect of aneuploidy on genome stability and compare cells with the same genetic background and environment exposure, but differing in the presence of sSMC. Here, we report the functional characterization of different cell lines from two familial patients with mosaic sSMC derived from chromosome 12. We performed studies of proliferation dynamics, stability, and variability of these cells using fluorescent in situ hybridization (FISH), sister chromatid exchanges (SCE), and conventional staining. We also quantified the telomere-related genomic instability of sSMC cells using 3D telomeric profile analysis by quantitative-FISH. sSMC cells exhibited differences in the cell cycle dynamics compared to normal cells. First, the sSMC cells exhibited lower proliferation index and higher frequency of SCE than normal cells, associated with a higher level of chromosomal instability. Second, sSMC cells exhibited more telomeric-related genomic instability. Lastly, the differences of sSMC cells distribution among tissues could explain different phenotypic repercussions observed in patients. These results will help in our understanding of the sSMC stability, maintenance during cell cycle, and the cell cycle variables involved in the different phenotypic manifestations.

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Introducción: La cateterización venosa central es un procedimiento usual en Unidades de Cuidados Intensivos (UCI). El ultrasonido (US) para guiar la cateterización, ofrece ventajas, permitiendo tener una imagen topográfica precisa del vaso, reduciendo las complicaciones, el tiempo y el número de punciones. Objetivo: determinar, si la US en la colocación de catéteres venosos centrales (CVC), podría disminuir el número de punciones y lograr la cateterización exitosa. Población y métodos: Estudio descriptivo, prospectivo de los CVC colocados mediante punción guiada por US, en una UCI polivalente del Hospital de Pediatría Juan P. Garrahan, entre el año 2018 al 2019. Población: pacientes de 1 mes a 18 años que requirieron colocación de un CVS por US. Se consideró significativo un valor de p< 0.05. Resultados: VYI en 66 pacientes (43,5%), VF fue en 86 pacientes (56,5%). 86 (56,5%) CVC, fueron insertados en el primer intento y 66 (43,5%), requirieron más de un intento. Las inserciones en VYI fueron exitosas en el primer intento en 46 pac. (53,5%) 20 pac. requirieron más de un intento (30,3%) p 0,004 OR 0,37 (IC 95% 0,18-0,78. En <6 meses los CVC colocados en VYI tuvieron menos riesgo de requerir más de un intento, con respecto a aquellos en los cuales se eligió la VF, p 0,0026 OR 0,31 (IC 95% 0,12 -0,75). 5,2% presentaron complicaciones, no hubo mortalidad relacionada al procedimiento. Conclusiones: La inserción de CVC guiados por US fue segura y significativamente exitosa en el primer intento cuando el vaso de elección fue la VYI, especialmente en < 6 meses (AU)

IIntroduction: Central venous catheterization is a common procedure in intensive care units (ICU). The use of ultrasound (US) to guide catheterization offers advantages, allowing for an accurate topographic image of the vessel, reducing complications as well as time and number of punctures. Objective: To determine whether the use of US for the placement of central venous catheters (CVCs) may decrease the number of punctures and achieve successful catheterization. Patients and methods: A descriptive, prospective study was conducted of CVCs placed by US-guided puncture at a general ICU of Hospital de Pediatría Juan P. Garrahan between 2018 and 2019. Patients from 1 month to 18 years of age who required US-guided placement of a CVC were included. A p< 0.05 was considered significant. Results: The internal jugular vein (IJV) was used in 66 (43.5%) and the femoral vein (FV) in 86 patients (56.5%). Overall, in 86 (56.5%) CVC were inserted on the first attempt and 66 (43.5%) required more than one attempt. Insertions into the VYI were successful on the first attempt in 46 (53.5%) patients and 20 (30.3%) patients required more than one attempt, p 0.004; OR 0.37 (95% CI 0.18-0.78). In patients <6 months CVCs placed in the IJV had a lower risk of requiring more than one attempt compared to those in which the FV was chosen, p 0.0026 OR 0.31 (95% CI 0.12 -0.75). Complications occurred in 5.2%; no procedure-related mortality was observed. Conclusions: US-guided insertion of CVC was safe and significantly successful on the first attempt when the vessel of choice was the IJV, especially in patients < 6 months (AU)

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Objetivo: Describir la evolución en la Unidad de Cuidados Intensivos Pediátricos (UCIP) de los pacientes con bronquiolitis, tratados inicialmente con cánula nasal de alto flujo de oxígeno (CAFO) en la Unidad Emergencias. Determinar factores predisponentes de ingreso a ventilación no invasiva (VNI) o invasiva con intubación orotraqueal (TET). Métodos: Trabajo descriptivo retrospectivo por revisión de historias clínicas. Se incluyeron todos los pacientes menores de 2 años de edad con diagnóstico de bronquiolitis, sin comorbilidades, que ingresaron a UCIP polivalente luego de haber sido previamente tratados con CAFO en la Unidad de Emergencias entre los meses de Agosto 2017 y Agosto 2019. Resultados: Se evaluaron 145 pacientes. La mediana de edad fue de 4,4 meses (RIC 2-6 meses), con una mediana de tiempo desde el inicio de los síntomas hasta la consulta de 45,4 hs (RIC 24-72). La mediana del score de TAL modificado al ingreso a UCIP 8,4 (RIC 8-9). El 98,6% requirió asistencia respiratoria mecánica (ARM), en el grupo VNI 52,4% (75) y en el grupo TET 47,5% (68). El rescate de germen fue en 60% de los casos virus sincicial respiratorio (VSR). El 5,5% fueron co-infecciones. De los pacientes con rescate positivo para VSR, el 52,9% (46) requirieron VNI y 47,1% (41) TET. Los pacientes estudiados permanecieron en CAFO una mediana de 20 hs previo al ingreso a UCIP (RIC: 6-24). Aquellos que estuvieron en VNI con una mediana de 23,3 hs (RIC 6-24) y los que requirieron TET 17 hs (RIC 6-21). La mortalidad evidenciada en el grupo TET fue de 1,38% correspondiente a 2 pacientes, donde también se encontró un 7,5% de complicaciones. La mediana de días de internación en UCIP fue de 8,6 (5-11) para la totalidad de la población estudiada siendo 5,2 (4-6) para los pacientes en VNI y 12 días (9-14) para los pacientes en TET. Conclusiones: Casi la totalidad de pacientes tratados con CAFO en la Unidad Emergencias que requirieron pasar a UCI necesitaron ARM. Ni el score de TAL ni la cantidad de horas de CAFO previo al ingreso en UCI nos permitieron diferenciar los pacientes del grupo VNI de aquellos del grupo TET (AU)

Objective: To describe outcome of patients who were admitted to the pediatric intensive care unit (PICU) with bronchiolitis initially treated with high-flow oxygen through a nasal cannula (HFNC) at the emergency department and to determine predisposing factors for the need for non-invasive ventilation (NIV) or invasive endotracheal intubation (ETI). Methods: A retrospective descriptive study with a review of the clinical records was conducted. All patients less than 2 years of age with bronchiolitis without comorbidities that were admitted to the general PICU following treatment with HFNC at the emergency department between August 2017 and August 2019 were included in the study. Results: 145 patients were evaluated. Median age was 4.4 months (IQR 2-6 months). Median time from symptom onset to first consultation was 45.4 hours (IQR 24-72). Median modified TAL score on PICU admission was 8.4 (IQR 8-9). Overall 98,6% required mechanical ventilation (MV), 52.4% (75) in the NIV and 47.5% (68) in the ETI group. In 60% of the cases respiratory syncytial virus (RSV) was isolated. Co-infections were found in 5.5%. Of the patients with an RSV-positive isolate, 52.9% (46) required NIV and 47.1% (41) ETI. Patients had remained on HFNC for a median of 20 hours prior to PICU admission (IQR 6-24). Patients were on NIV for a median time of 23.3 hours (IQR 6-24) and on ETI for a median time of 17 hours (IQR 6-21). In the ETI group, mortality rate was 1.38%, corresponding to two patients, while the complication rate was 7.5%. Median length of PICU stay was 8.6 days (5-11) for the entire study population, 5.2 days (4-6) for patients on NIV, and 12 days (9-14) for those on ETI. Conclusions: Almost all patients treated with HFNC at the emergency department who required admission to the PICU needed MV. Neither TAL score nor time on HFNC allowed us to differentiate patients requiring NIV from those who needed ETI (AU)

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Consumer concern on the quality of products and animal welfare has greatly increased during the past decades. Dietary synthetic antibiotic products used as growth promoters have been restricted or banned in many countries. Edible plants, essential oils, or their main components were suggested as natural feed supplements to improve growth, products' quality, and welfare-related parameters. Thymol (THY), a main component of oregano essential oil, has been proved as an effective antimicrobial and antioxidant compound. Tocopherol (TOC) evidenced antioxidant activity with potential as a growth promoter and a synergic antioxidant activity between TOC and ascorbyl palmitate (AP) has also been reported. Herein, we evaluated whether broiler diet supplementation with THY, and THY with a formulation mix containing TOC and AP (1:0.5:0.5, respectively) have potential as growth enhancers under commercial conditions. Potential protective effects against foot pad dermatitis and hock burns were also evaluated. Newly hatched male broiler chicks with similar body weight (BW) were randomly assigned to 1 of 7 groups (4 replicates each) as follows: Basal (no feed supplements added), Promotor (Basal + 6.26 µmol flavomycin/kg feed), BHT (Basal + 1.33 mmol of buthylated hidroxytoluene (BHT)/kg feed), Prom-BHT (Basal + 6.26 µmol flavomycin/kg feed + 1.33 mmol of BHT/kg feed), TOC-AP (Basal + 0.67 mmoles of TOC + 0.67 mmoles of AP/kg feed), THY (Basal + 1.33 mmoles of THY/kg feed), and THY-TOC-AP (Basal + 0.67 mmoles of THY + 0.67 mmoles of a mix 1:1 of TOC-AP). Along 7 wk, BW, feed intake, and feed conversion ratio were evaluated. Skin injuries were assessed at 35 d of age. At the end of the study (42 d), compared to Basal group, similarly enhanced final BW were observed in all groups but TOC-AP. No main differences between groups were detected in feed intake, feed conversion ratio, or skin injuries. Findings suggest that THY itself or in combination with TOC-AP may have value as a natural growth enhancer alternative for broilers.

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Aggressive behaviors can affect both animal welfare and productivity. Because the expression of aggressive behaviors is dependent on the quality of the opponent, they reflect relative rather than absolute levels of underlying aggressiveness. This study was aimed to characterize the aggressive responsiveness of photostimulated (14:10 h light:dark photoperiod) adult Japanese quail when interacting with a photocastrated (6:18 h light:dark photoperiod) counterpart in a novel test environment and to assesses interindividual variations. This was based on the assumption that photocastrated birds will not actively provoke an aggressive confrontation. Birds were reared in male-female pairs. Frequencies of behaviors (i.e., pecks, threats, chases, grabs, mounts) were determined during 10 min social interactions in a novel environment. A first experiment evaluated 78 encounters between a photostimulated male or female with either a photocastrated male or female (photocastration of sexually mature birds started at 11 wk of age). High interindividual variability was observed and in general, highly aggressive birds (performing 20 or more aggressive interactions) received little or no aggression from their test counterpart. However, unexpectedly, we also found that 37% and 32% of photocastrated males and females, respectively, performed aggressions toward their photostimulated counterparts, and initiated the aggressive interactions in a similar proportion than photostimulated males. Aggressive photocastrated males did not perform reproductive-type behaviors (i.e., grabs, mounts). Aggressiveness in the photocastrated birds was attributed to their social experience prior to photocastration. Therefore, a second experiment evaluated 106 encounters between a photostimulated male or female and a naive photocastrated male (photocastration started at 4 wk of age, prior to sexual development). Photocastrated males performed no aggressions toward their photostimulated counterparts. Consistently with previous studies, our findings show that naive photocastrated males can be used as a non-aggressive stimulus during a social interaction aimed to assess expression of aggressiveness in photostimulated birds. However, caution should be taken when applying the photocastration protocol considering that prior fighting and sexual experience or other physiological changes related with maturation can interfere during subsequent aggressive testing.

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Social interactions have been extensively studied in poultry in a variety of environmental situations. Many studies allow full social contacts between birds, but there are others in which the interactions are tested through barriers (wire mesh or glass). Thus a situation where, according to their needs, some birds can get access to physical contact with conspecifics while others cannot, would be useful to expand the testing options for social interaction studies. We developed an individual physical barrier device (IPB) that is fitted on the birds to delimit their ambulation areas by preventing them from passing across metal mesh boundaries that IPB free counterparts can easily overcome. The prototypes showing greater efficacy consisted of a small metal bar placed in the bird's back perpendicular to the sagittal plane that slightly exceeds body width, held with a harness fitted by 2 elastic fabric bands around the wings' base. To be useful, the IPB should allow natural movements and not affect the expression of behaviors (non-invasive). This study assessed whether the IPB may alter adult Japanese quail behavioral responses using 4 classical test situations: Open-Field, Runway, Time Budget in Home Box, and Mating Interactions. Open-field ambulatory behaviors were affected 1 h, but not 7 d, after IPB was fitted, suggesting that 7 d (or less) are required to habituate to the device. After that time period, IPB fitted birds showed no differences in any of the behaviors registered in the other 3 tests situations when compared to non IPB fitted birds. Findings suggest that after habituation, the IPB does not affect main behaviors in adult quail. Its application could be expanded if an IPB device is also found suitable for other poultry species.

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The use of noninvasive methods for measuring fecal glucocorticoid metabolites is a useful tool for endocrine assessment particularly in studies where animals cannot be captured, when they should be sampled without disturbing their activities, and/or when welfare needs to be maximized. However, still no complete standardization exists for the methodology, and some confounding variables may play an important role affecting measurements and interpretation of results. The present study focused on whether two different diets (laying feed or seed mixture), the time since defecation (0, 4, 24, or 48 h) and the drying method of those samples (oven-dried or naturally nonoven-dried) may affect concentrations of corticosterone metabolites (CM) measured in male Japanese quail. Half of the birds were provided with plain water (control) and the other half received a corticosterone solution. Birds fed with a seed mixture exhibited higher values of CM (nanogram/gram) in droppings than quail that received a laying feed diet suggesting that diet should be carefully considered as a potential source of variation. As expected both groups exhibited higher CM concentration after corticosterone treatment. While CM concentrations increased significantly in nonoven-dried samples over time (0 < 4 < 24 = 48 h), oven-dried samples exhibited similar high CM values. At 24 and 48 h postdefecation, nonoven-dried samples had similar CM concentrations as all oven-dried samples. Drying of samples may be considered a reliable method to reduce variations due to water loss over time, facilitating comparisons up to 48 h postdefecation. This finding would allow to enhance the range of application of this noninvasive and welfare friendly method to situations where samples cannot be collected or frozen shortly after defecation.

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Here we report on a girl with diploid/triploid mosaicism followed up to age 5 years. The clinical manifestations are compared to those of other reported cases. In contrast to most cases, our patient was not growth retarded despite severe delays in psychomotor development. We also discuss 2 manifestations that have not received sufficient attention in previous reports: pigmentary dysplasia and truncal obesity.

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