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BACKGROUND: Gonadal dysgenesis, a genetic condition characterized by incomplete of defective formation of the gonads, can present with vaginal agenesis in individuals with 46,XY karyotype. CASE: We report an innovative intervention in the management of vaginal agenesis in a 19-year-old female with gonadal dysgenesis. Despite initial attempts with vaginal dilators, the patient presented unresponsive, leading to the adoption of a neovaginoplasty using Nile Tilapia Fish Skin (NTFS) as graft. The procedure, based on the McIndoe technique, involved the creation of a 10cm x 3cm vaginal canal with an NTFS-wrapped acrylic mold without complications. DISCUSSION: The use of NTFS as a graft for neovaginoplasty in gonadal dysgenesis, a novel approach not previously reported in medical literature for this diagnosis, demonstrated favorable outcomes in terms of functionality and patient well-being.
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Gut bacterial communities have a profound influence on the health of humans and animals. Early-life gut microbial community structure influences the development of immunological competence and susceptibility to disease. For the Thoroughbred racehorse, the significance of early-life microbial colonisation events on subsequent health and athletic performance is unknown. Here we present data from a three-year cohort study of horses bred for racing designed to explore interactions between early-life gut bacterial community structure, health events in later life and athletic performance on the racetrack. Our data show that gut bacterial community structure in the first months of life predicts the risk of specific diseases and athletic performance up to three years old. Foals with lower faecal bacterial diversity at one month old had a significantly increased risk of respiratory disease in later life which was also associated with higher relative abundance of faecal Pseudomonadaceae. Surprisingly, athletic performance up to three years old, measured by three different metrics, was positively associated with higher faecal bacterial diversity at one month old and with the relative abundance of specific bacterial families. We also present data on the impact of antibiotic exposure of foals during the first month of life. This resulted in significantly lower faecal bacterial diversity at 28 days old, a significantly increased risk of respiratory disease in later life and a significant reduction in average prize money earnings, a proxy for athletic performance. Our study reveals associations between early-life bacterial community profiles and health events in later life and it provides evidence of the detrimental impact of antimicrobial treatment in the first month of life on health and performance outcomes in later life. For the first time, this study demonstrates a relationship between early-life gut bacterial communities and subsequent athletic performance that has implications for athletes of all species including humans.
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Heces , Microbioma Gastrointestinal , Caballos , Animales , Heces/microbiología , Enfermedades de los Caballos/microbiología , Rendimiento Atlético , Bacterias/clasificación , Bacterias/genética , Masculino , FemeninoRESUMEN
BACKGROUND: In the decision to perform elective surgery, it is of great interest to have data about the outcomes of surgery to individualize patients who could safely undergo sigmoid resection. The aim of this study was to provide information on the outcomes of elective sigmoid resection for sigmoid diverticular disease (SDD) at a national level. METHODS: All consecutive patients who had elective surgery for SDD (2010-2021) were included in this retrospective, multicenter, cohort study. Patients were identified from institutional review board-approved databases in French member centers of the French Surgical Association. The endpoints of the study were the early and the long-term postoperative outcomes and an evaluation of the risk factors for 90-day severe postoperative morbidity and a definitive stoma after an elective sigmoidectomy for SDD. RESULTS: In total, 4617 patients were included. The median [IQR] age was 61 [18.0;100] years, the mean ± SD body mass index (BMI) was 26.8 ± 4 kg/m2, and 2310 (50%) were men. The indications for surgery were complicated diverticulitis in 50% and smoldering diverticulitis in 47.4%. The procedures were performed laparoscopically for 88% and with an anastomosis for 83.8%. The severe complication rate on postoperative day 90 was 11.7%, with a risk of anastomotic leakage of 4.7%. The independent risk factors in multivariate analysis were an American Society of Anesthesiologists (ASA) score ≥ 3, an open approach, and perioperative blood transfusion. Age, perioperative blood transfusion, and Hartmann's procedure were the three independent risk factors for a permanent stoma. CONCLUSIONS: This series provides a real-life picture of elective sigmoidectomy for SDD at a national level. TRIAL REGISTRATION: Comité National Information et Liberté (CNIL) (n°920361).
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Diverticulitis del Colon , Diverticulitis , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Estudios de Cohortes , Colon Sigmoide/cirugía , Diverticulitis/cirugía , Diverticulitis/complicaciones , Diverticulitis del Colon/cirugía , Diverticulitis del Colon/complicaciones , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , AncianoRESUMEN
BACKGROUND: Collagen is a component of Pyogenic Granuloma (PG) and Peripheral Ossifying Fibroma (POF) and performs different functions in these lesions. The objective of this study is to evaluate the role of collagen and immunostaining for Transforming Growth Factor beta (TGF-ß) in the clinical and microscopic findings of PG and POF. MATERIAL AND METHODS: PG (n=20) and POF (n=20) were selected for clinical evaluation (sex, age, localization, size and evolution time) and microscopic analysis (picrosirius red staining for collagen analysis and immunohistochemistry for TGF-ß) performed in the superficial and deep areas of the two lesions. ANOVA/Bonferroni and t-test, Pearson correlation and χ2 were used to compare the sites and parameters analyzed (p<0.05, GraphPad Prism 5.0). RESULTS: The depth of PG presented the highest amount of collagen (p<0.001), and its surface showed the lowest amount of type 1 collagen (yellow-red strong birefringence). Type 1 collagen gradually increased in depth of PG, surface and depth of POF (p<0.001). The number of TGF-ß+ cells was lower on the surface of PG compared with the depth of PG and the two areas of POF (p<0.001). Sex and localization did not affect these parameters, but the profile of collagen and immunostaining for TGF-ß suffered from modifications by the time of evolution and the size of the lesion. CONCLUSIONS: Although PG and POF are reactive gingival lesions, the expression of TGF-ß and its role in collagen showed different biological behaviors in these lesions, suggesting different biological origins for its components.
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Fibroma Osificante , Neoplasias Gingivales , Granuloma Piogénico , Humanos , Colágeno Tipo I , Granuloma Piogénico/diagnóstico , Colágeno , Factor de Crecimiento Transformador betaRESUMEN
This study aimed to assess the predictive ability of parametric models and artificial neural network method for genomic prediction of the following indicator traits of resistance to gastrointestinal nematodes in Santa Inês sheep: packed cell volume (PCV), fecal egg count (FEC), and Famacha© method (FAM). After quality control, the number of genotyped animals was 551 (PCV), 548 (FEC), and 565 (FAM), and 41,676 SNP. The average prediction accuracy (ACC) calculated by Pearson correlation between observed and predicted values and mean squared errors (MSE) were obtained using genomic best unbiased linear predictor (GBLUP), BayesA, BayesB, Bayesian least absolute shrinkage and selection operator (BLASSO), and Bayesian regularized artificial neural network (three and four hidden neurons, BRANN_3 and BRANN_4, respectively) in a 5-fold cross-validation technique. The average ACC varied from moderate to high according to the trait and models, ranging between 0.418 and 0.546 (PCV), between 0.646 and 0.793 (FEC), and between 0.414 and 0.519 (FAM). Parametric models presented nearly the same ACC and MSE for the studied traits and provided better accuracies than BRANN. The GBLUP, BayesA, BayesB and BLASSO models provided better accuracies than the BRANN_3 method, increasing by around 23% for PCV, and 18.5% for FEC. In conclusion, parametric models are suitable for genome-enabled prediction of indicator traits of resistance to gastrointestinal nematodes in sheep. Due to the small differences in accuracy found between them, the use of the GBLUP model is recommended due to its lower computational costs.
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Genoma , Nematodos , Ovinos , Animales , Teorema de Bayes , Nematodos/genética , Genotipo , Fenotipo , Redes Neurales de la Computación , Modelos Genéticos , Polimorfismo de Nucleótido SimpleRESUMEN
The Indonesian Young Toba Tuff (YTT), classically dated around 74 ka BP, is considered as a short-lived explosive cataclysmic super-eruption. The huge amounts of ash and SO2 emitted are likely to have triggered a volcanic winter which accelerated the transition to the last glaciation, and may have induced a human genetic bottleneck. However, the global climatic impact of the YTT or its duration are hotly debated. The present work offers a new interpretation of the Toba volcanic complex eruptive history. Analysing the BAR94-25 marine core proximal to the Toba volcanic center and combining it with high-resolution tephrostratigraphy and δ18O stratigraphy, we show that the Toba complex produced a volcanic succession that consists of at least 17 distinct layers of tephra and cryptotephra. Textural and geochemical analyses show that the tephra layers can be divided in 3 main successive volcanic activity phases (VAP1 to VAP3) over a period of ~ 50 kyr. The main volcanic activity phase, VAP2, including the YTT, is likely composed of 6 eruptive events in an interval whose total duration is ~ 10 ka. Thus, we suggest that the eruptive model of the Toba volcano must be revised as the duration of the Toba volcanic activity was much longer than suggested by previous studies. The implications of re-estimating the emission rate and the dispersion of ashes and SO2 include global environmental reconstitutions, climate change modelling and possibly human migration and evolution.
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The origin of high-energy cosmic rays, atomic nuclei that continuously impact Earth's atmosphere, is unknown. Because of deflection by interstellar magnetic fields, cosmic rays produced within the Milky Way arrive at Earth from random directions. However, cosmic rays interact with matter near their sources and during propagation, which produces high-energy neutrinos. We searched for neutrino emission using machine learning techniques applied to 10 years of data from the IceCube Neutrino Observatory. By comparing diffuse emission models to a background-only hypothesis, we identified neutrino emission from the Galactic plane at the 4.5σ level of significance. The signal is consistent with diffuse emission of neutrinos from the Milky Way but could also arise from a population of unresolved point sources.
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As regards colorectal cancer (CRC) in France, social inequalities in health (SIH) exist. Underprivileged patients are characterized by reduced incidence of CRC and, conversely, by excess mortality. The explanatory mechanisms of the SIHs influencing survival are complex, multidimensional and variable according to healthcare system. Among the most deprived compared to the least deprived patients, SIHs are reflected by lower participation in screening campaigns, and CRC diagnosis is more frequently given at a later stage in an emergency context. During treatment, disadvantaged patients are more at risk of having to undergo open surgery and of enduring severe postoperative complications and belated chemotherapy (when recommended). Study of SIHs poses unusual challenges, as it is necessary not only to pinpoint social deprivation, but also to locate the different treatment facilities existing in a given territorial expanse. In the absence of individualized socioeconomic information, research in France on the social determinants of health is based on duly constituted cancer registries, in which an ecological index of social deprivation, the European Deprivation Index (EDI), provides an aggregate measure of the socioeconomic environment of a given individual in a given geographical setting at a given point in time. All in all, studies on SIHs are justified as means of identification and comprehension of the mechanisms underlying social deprivation, the objective being to more precisely orient programs and practices aimed at combating SIH.
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Neoplasias Colorrectales , Humanos , Factores Socioeconómicos , Incidencia , Francia/epidemiología , Sistema de Registros , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiologíaRESUMEN
PROPOSE: We here present a female case with primary ciliary dyskinesia (PCD) and infertility. In this report, we also present the evaluation of the patient family, including her twin sister, also with PCD and infertility. METHODS: Confirmation of the PCD clinical diagnosis was performed through assessment of cilia motility, by high-speed video microscopy (HSVM), axoneme ultrastructure, by transmission electron microscopy (TEM), and genetic characterization, by whole-exome sequence (WES). Gene expression studies used qPCR for mRNA expression and immunofluorescence to determine cell protein localization. RESULTS: We identified a homozygous nonsense variant in the DRC1 gene (NM 145038.5:c.352C>T (p.Gln118Ter)) in the female patient with PCD and infertility that fit the model of autosomal recessive genetic transmission. This variant eventually results in a dyskinetic ciliary beat with a lower frequency and a partial lack of both dynein arms as revealed by TEM analysis. Moreover, this variant implies a decrease in the expression of DRC1 mRNA and protein. Additionally, expression analysis suggested that DRC1 may interact with other DRC elements. CONCLUSIONS: Our findings suggest that the DRC1 null variant leads to PCD associated with infertility, likely caused by defects in axoneme from Fallopian tube cilia. Overall, our outcomes contribute to a better understanding of the genetic factors involved in the pathophysiology of PCD and infertility, and they highlight the interaction of different genes in the patient phenotype, which should be investigated further because it may explain the high heterogeneity observed in PCD patients.
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Infertilidad Femenina , Síndrome de Kartagener , Humanos , Femenino , Síndrome de Kartagener/genética , Infertilidad Femenina/genética , Infertilidad Femenina/metabolismo , Proteínas/genética , Cilios/genética , Microscopía Electrónica de Transmisión , Mutación , Proteínas Asociadas a Microtúbulos/genéticaRESUMEN
PURPOSE: Estimate the incidence of teething symptoms and investigate risk factors at three centers in different regions of Brazil. METHODS: A prospective cohort study enrolled children at birth in the cities of Manaus (northern region), Porto Alegre (southern region) and Salvador (northeast region). Sociodemographic and anthropometric variables were collected at baseline and 6 months. At 12 months, data were collected on the child's health through structured interviews and dental examinations, including the primary outcome: occurrence of signs and symptoms of tooth eruption reported by parents. Statistical analysis involved Poisson regression with robust variance, with calculation of relative risks (RR). RESULTS: The incidence of teething symptoms was 82.4% (238/289). The multivariate analysis revealed a higher occurrence of the outcome in the city of Salvador (RR = 1.39; 95% CI 1.23-1.58), when mother's education was more than 11 years (RR = 1.31; 95% CI 1.04-1.65), when a larger number of individuals resided in the home (RR = 1.15; 95% CI 1.02-1.29), when a smoker resided in the home (RR = 1.16; 95% CI 1.03-1.31) and when the child presented flu or cold in the first year of life (RR = 1.23; 95% CI 1.09-1.38). The most reported symptoms were fever (50.5%), irritability (42.6%), itching (40.8%) and diarrhea (35.3%). Most parents (82%) took some action to alleviate symptoms, including unprescribed systemic medication, such as analgesic, anti-inflammatory and anti-diarrheic agents. CONCLUSION: Reports of teething symptoms were associated with the city investigated, socioeconomic factors of the families and characteristics of the child's health. A high rate of administering unprescribed medication was also found.
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Erupción Dental , Recién Nacido , Niño , Humanos , Estudios de Cohortes , Brasil/epidemiología , Estudios Prospectivos , Factores de RiesgoRESUMEN
Platelet-rich fibrin (PRF) has been used increasingly in oral and maxillofacial surgery in recent years. The aim of this experimental study was to perform a mechanical evaluation of PRF from patients on warfarin. PRF samples were obtained from 21 patients on warfarin (mean INR 2.30 ± 0.89) and 21 non-anticoagulated patients (control; mean INR 1.08 ± 0.07). For the patients on warfarin, two experimental groups were formed based on the PRF centrifugation time: group A, 10 min (21 samples); group B, 18 min (20 samples). Control group samples (21 samples) were centrifuged for 10 min. Mechanical properties were evaluated by axial tensile test and suture retention test with an Instron 3345 universal testing machine. Mechanical parameters were compared between the groups using the Kruskal-Wallis test and Dunn's post-hoc test. Axial tensile values were similar in all groups. In the suture retention test, significantly lower values of deformation at maximum force were observed in the experimental group: group A (107.07 ± 25.05%) and group B (104.81 ± 16.79%) versus control (118.01 ± 17.61%) (P = 0.033). Moreover, maximum force was significantly lower in group A (0.17 ± 0.05 N) than in the control group (0.20 ± 0.06 N), while it was significantly higher in group B (0.22 ± 0.07 N) than in group A (P = 0.026). In conclusion, for patients on warfarin, the centrifugation time should be increased to 18 min in order to obtain PRF with superior performance.
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Fibrina Rica en Plaquetas , Cirugía Bucal , Humanos , Warfarina , FibrinaRESUMEN
BACKGROUND: The Chester Step Test (CST) is a simple and inexpensive field test, which requires minimal physical space to assess exercise capacity. Such characteristics make the CST suitable to be used in different settings, however, its measurement properties in patients with interstitial lung diseases (ILD) are unknown. METHODS: A cross-sectional study was conducted in patients with ILD. First, a CST-1 and a 6-minute walk test (6MWT) were performed. After 48-72 hours, a CST-2 was repeated. A 2nd rater was present in one of the sessions. Relative reliability was measured using intraclass correlation coefficient (ICC1,1 and ICC2,1). Absolute reliability was determined using standard error of measurement (SEM), minimal detectable change at 95% confidence interval (MDC95) and the Bland-Altman method. The values of SEM and MDC95 were also expressed as a percentage of the mean. Construct validity was explored using Spearman correlation coefficient (rs) between the number of steps taken in the best CST and the distance performed in the 6MWT. RESULTS: Sixty-six patients with ILD (65.5±12.9 years; 48.5%men; FVC 79.4±18.8pp; DLCO 49.0±18.3pp) participated in the study. Relative (ICC 0.95-1.0) and absolute reliability were excellent without evidence of systematic bias. The SEM and MDC95 were 11.8 (14.7%) and 32.6 steps (40.7%), respectively. The correlation between CST and 6MWT was significant, positive, and high (rs=0.85, p=0.001). CONCLUSION: The CST is a reliable and valid test and might be especially useful to assess exercise capacity in patients with ILD in limited space environments.
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A supermassive black hole, obscured by cosmic dust, powers the nearby active galaxy NGC 1068. Neutrinos, which rarely interact with matter, could provide information on the galaxy's active core. We searched for neutrino emission from astrophysical objects using data recorded with the IceCube neutrino detector between 2011 and 2020. The positions of 110 known gamma-ray sources were individually searched for neutrino detections above atmospheric and cosmic backgrounds. We found that NGC 1068 has an excess of [Formula: see text] neutrinos at tera-electron volt energies, with a global significance of 4.2σ, which we interpret as associated with the active galaxy. The flux of high-energy neutrinos that we measured from NGC 1068 is more than an order of magnitude higher than the upper limit on emissions of tera-electron volt gamma rays from this source.
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Lower gastrointestinal bleeding (LGIB), originating mainly in the colon, rectum and anus, occurs most often in older patients (7th decade) with co-morbidity, half of whom have coagulation abnormalities due to anti-coagulant or anti-aggregant therapy. In three cases out of four, bleeding regresses spontaneously but can recur in up to one third of patients. The main causes are diverticular disease, vascular disorders (hemorrhoids, angiodysplasia) and colitis. Ten to 15% of patients present in hypovolemic shock. The main problem is to determine the precise location and etiology of bleeding. First-line steps include correction of hemodynamics, correction of coagulation disorders and transfusion, as necessary. Rectal digital examination allows differentiation between melena and hematochezia. In patients with severe LGIB, upper endoscopy can eliminate upper gastro-intestinal bleeding (UGIB). Computerized tomography (CT) angiography can pinpoint the source. If contrast material extravasates, the therapeutic strategy depends on the cause of bleeding and the general status of the patient: therapeutic colonoscopy, arterial embolization and/or surgery. In the absence of severity criteria (Oakland score≤10), ambulatory colonoscopy should be performed within 14 days. Discontinuation of anticoagulant and/or antiplatet therapy should be discussed case by case according to the original indications.
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Angiodisplasia , Enfermedades del Colon , Hemorroides , Humanos , Anciano , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/terapia , Angiodisplasia/complicaciones , Angiodisplasia/diagnóstico , Angiodisplasia/terapia , Colonoscopía/métodos , Enfermedades del Colon/complicaciones , Hemorroides/complicacionesRESUMEN
We present a search for an unstable sterile neutrino by looking for a resonant signal in eight years of atmospheric ν_{µ} data collected from 2011 to 2019 at the IceCube Neutrino Observatory. Both the (stable) three-neutrino and the 3+1 sterile neutrino models are disfavored relative to the unstable sterile neutrino model, though with p values of 2.8% and 0.81%, respectively, we do not observe evidence for 3+1 neutrinos with neutrino decay. The best-fit parameters for the sterile neutrino with decay model from this study are Δm_{41}^{2}=6.7_{-2.5}^{+3.9} eV^{2}, sin^{2}2θ_{24}=0.33_{-0.17}^{+0.20}, and g^{2}=2.5π±1.5π, where g is the decay-mediating coupling. The preferred regions of the 3+1+decay model from short-baseline oscillation searches are excluded at 90% C.L.
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Miembro Anterior , Lidocaína , Caballos , Animales , Administración Intravenosa/veterinaria , Perfusión/veterinariaRESUMEN
We report a search for nonstandard neutrino interactions (NSI) using eight years of TeV-scale atmospheric muon neutrino data from the IceCube Neutrino Observatory. By reconstructing incident energies and zenith angles for atmospheric neutrino events, this analysis presents unified confidence intervals for the NSI parameter ε_{µτ}. The best-fit value is consistent with no NSI at a p value of 25.2%. With a 90% confidence interval of -0.0041≤ε_{µτ}≤0.0031 along the real axis and similar strength in the complex plane, this result is the strongest constraint on any NSI parameter from any oscillation channel to date.
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Basil (Ocimum basilicum) is a medicinal, ornamental and aromatic plant, however, its size can be an obstacle to its commercialization as a potted ornamental plant. Paclobutrazol (PBZ) is a substance that can retard plant growth by inhibiting the synthesis of gibberellins. The objective of this work was to evaluate the effect of paclobutrazol on growth regulation and gas exchange of basil (var. Cinnamon). The experiment was carried out in a completely randomized design with five treatments (PBZ doses: 0, 2.5, 5, 7.5 and 10 mg L-1), with eight replicates. Growth (plant height, number of leaves, stem diameter, leaf dry mass, stem dry mass, inflorescence dry mass, and total), growth rates (leaf mass ratio, stem mass ratio, inflorescence mass ratio, and robustness quotient), chlorophyll indices, gas exchange (gs, A, E, Ci, WUE, iWUE and iCE) were evaluated. Paclobutrazol reduced the growth of basil plants and increased the chlorophyll indices, A, gs, and WUE. Paclobutrazol can be used to regulate plant growth of basil plants var. Cinnamon, without altering its physiological and ornamental characteristics.