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Osteochondrosis (OC) is a developmental orthopaedic disease of significant concern in numerous sport horse breeds, with significant international relevance. Using digital radiographs, we assessed the occurrence of hock (tarsocrural joint) OC in 3 048 Pura Raza Española (PRE) horses which took part in a morpho-functional test, in three specific locations in the tarsus limbs: the Distal Intermediate Ridge of the Tibia (DIRT), the lateral trochlear ridges of the talus (LTT), and the medial trochlear ridges of the talus (MTT). An incidence rate of 13.3% was found for hock OC in the analysed sample, with the highest incidence rate observed in DIRT (10.0%) and the lowest in MTT (0.2%). Estimates of genetic predisposition to hock OC were carried out using three genetic approaches: 1a) a binomial threshold model based on the presence or absence of OC, 1b) a multinomial threshold model, on a scale from 0 (absence) to 3 (maximum), and 2) a linear model. The effects considered in the models included sex, genetic origin and stud class. All the analyses were based on the Bayesian inference methodology, using the THRGIBBS3F90 software. The binomial threshold model yielded the most suitable results, with an estimated heritability for Overall hock OC of 0.71 ± 0.055 on the underlying scale (0.53 on the observed scale), ranging in different locations from 0.48 ± 0.087 (LTT) to 0.66 ± 0.063 (DIRT) on the underlying scale (0.10 and 0.38 on the observed scale, respectively). The highest significative genetic correlation was observed between Overall and DIRT (0.97) for approach 1a, and the lowest significant genetic correlation was between Overall and LTT (0.49), for approach 2. This study contributes valuable insights into the genetic predisposition towards, as well as for the potential for selective breeding against, hock OC in PRE horses, and provides a basis for future research and breeding programmes aimed at minimising the occurrence of hock OC and promoting the overall health of this breed.
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Early diagnosis of autism spectrum disorder (ASD) in children facilitates the provision of services and enhances opportunities for improving functioning via intervention. To date, limited studies have examined whether age of ASD diagnosis is associated with components of care of the patient-centered medical home (PCMH), a model of health care that emphasizes centralized, accessible, and coordinated care. The objective of the current study was to evaluate the associations between components of the PCMH and age of ASD diagnosis while controlling for associated clinical and socio-demographic factors, in a national sample of children 17 years and younger with ASD. The present study was a cross-sectional, observational study. Participants were caregivers of 1,193 children ages with ASD from the 2020 National Survey of Children's Health (NSCH). Hierarchical multiple linear regression analysis was run with age of ASD diagnosis as the criterion variable in two regression models. The binary composite medical home proxy variable was investigated as well as the five individual medical home components (usual source of care, personal doctor or nurse, family-centered care, care coordination, able to obtain referrals when needed). In the first regression analysis, the overall PCMH proxy variable was significantly correlated with the age of ASD diagnosis (standardized beta coefficient = -.08; p < .01). Of the five components of the PCMH assessed in the second regression model, only usual source of sick care was significantly associated with the age of ASD diagnosis (standardized beta coefficient = -.11; p < .01). Having a usual source of sick care may be an important factor in receiving an earlier ASD diagnosis for children and adolescents.
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A 49-year-old female with no pre-morbidities comes in with sudden, painless loss of vision in the left eye (OS) after a facial hyaluronic acid (HA) injection for aesthetic purposes one hour ago. Visual acuity was no light perception (NLP). OS examination revealed a mid-non-reactive mydriasis and complete ophthalmoplegia. Fundus examination of the OS suggested central retinal artery occlusion (CRAO). Systemic evaluation was normal. Given this diagnosis, ocular massage, anterior chamber paracentesis, anticoagulation, systemic antibiotherapy, and subcutaneous hyaluronidase around the injection sites and peribulbar region were performed. Despite these interventions, the patient did not regain vision, exhibiting signs of anterior and posterior ocular ischemia. Subsequently, she developed phthisis bulbi, necessitating evisceration. The management of this complication should be prompt, if possible, to mitigate its dire consequences.
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While genome sequencing has transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we used artificial intelligence (AI) technologies to explore the predictive value of genome sequencing in forecasting clinical outcomes following surgery for congenital heart defects (CHD). We report results for a cohort of 2,253 CHD patients from the Pediatric Cardiac Genomics Consortium with a broad range of complex heart defects, pre- and post-operative clinical variables and exome sequencing. Damaging genotypes in chromatin-modifying and cilia-related genes were associated with an elevated risk of adverse post-operative outcomes, including mortality, cardiac arrest and prolonged mechanical ventilation. The impact of damaging genotypes was further amplified in the context of specific CHD phenotypes, surgical complexity and extra-cardiac anomalies. The absence of a damaging genotype in chromatin-modifying and cilia-related genes was also informative, reducing the risk for adverse postoperative outcomes. Thus, genome sequencing enriches the ability to forecast outcomes following congenital cardiac surgery.
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Doryopteris raddiana (Presl) Fée, a traditional contraceptive in Mbya culture, lacks scientific scrutiny regarding its chemical composition and contraceptive efficacy. Employing X-ray fluorescence, Fourier-transform infrared spectroscopy, and thermal analysis, we explored the plant's organs. Multielemental analysis excluded toxic elements. Key phytoconstituents identified by gas chromatography-mass spectrometry in the extracts obtained through infusion were glycerine, 1,3-dimethyl propane, and catechol in leaves; glycerine, cis-13-octadecenoic acid methyl ester, and 2-deoxy-D-erythro-pentose in stems and roots. Among these chemicals, glycerine emerged as the sole constituent with contraceptive potential, particularly intravaginally. Extract activity tests conducted on ram spermatozoa exhibited a reduction in the percentage of rapid spermatozoa but no significant impact on total motility, progressive motility, or viability. The reported data would only weakly support the advocated contraceptive action of this fern upon vaginal application, not through the oral administration of its decoction.
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Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. Methods: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. Results: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. Discussion: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.
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INTRODUCTION: Pelvic organ prolapse is a condition with high prevalence in elderly women. With increasing life expectancy and a desire for improved quality of life, a rise in the frequency of surgical treatments for these women is anticipated. The aim is to compare complication, success, and satisfaction rates among elderly patients (aged >70 years) in comparison to younger women undergoing robotic sacrocolpopexy, thereby assessing the safety and efficacy of this surgery in this group of patients. METHOD: A prospective observational comparative study of 123 robotic sacrocolpopexies conducted between December 2016 and June 2022. Patients were stratified by age (cutoff point: 70 years). Baseline characteristics, type, and grade of prolapse, intra and postoperative data, complications, functional and anatomical outcomes, and satisfaction levels were collected. RESULTS: Among the 123 patients, 62.6% were under 70 years old, while 37.4% were 70 years or older, exhibiting similar baseline characteristics, prolapse grade, and type. The percentages of intraoperative (6.5%) and postoperative complications (4.4-9%) were comparable in both age groups. Furthermore, success and satisfaction rates exceeded 90%, with no significant differences between women under and over 70 years during a two-year follow-up. CONCLUSION: Robotic sacrocolpopexy is at least as effective and safe in women aged 70 years or older as in younger individuals, with no higher rates of intra and postoperative complications and similar rates of anatomical and subjective success.
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AIMS: Hypertonic saline solution (HSS) plus intravenous (IV) loop diuretic appears to enhance the diuretic response in patients hospitalized for heart failure (HF). The efficacy and safety of this therapy in the ambulatory setting have not been evaluated. We aimed to describe the design and baseline characteristics of the SALT-HF trial participants. METHODS AND RESULTS: 'Efficacy of Saline Hypertonic Therapy in Ambulatory Patients with HF' (SALT-HF) trial was a multicenter, double-blinded, and randomized study involving ambulatory patients who experienced worsening heart failure (WHF) without criteria for hospitalization. Enrolled patients had to present at least two signs of volume overload, use ≥ 80 mg of oral furosemide daily, and have elevated natriuretic peptides. Patients were randomized 1:1 to treatment with a 1-h infusion of IV furosemide plus HSS (2.6-3.4% NaCl depending on plasmatic sodium levels) versus a 1-h infusion of IV furosemide at the same dose (125-250 mg, depending on basal loop diuretic dose). Clinical, laboratory, and imaging parameters were collected at baseline and after 7 days, and a telephone visit was planned after 30 days. The primary endpoint was 3-h diuresis after treatment started. Secondary endpoints included (a) 7-day changes in congestion data, (b) 7-day changes in kidney function and electrolytes, (c) 30-day clinical events (need of IV diuretic, HF hospitalization, cardiovascular mortality, all-cause mortality or HF-hospitalization). RESULTS: A total of 167 participants [median age, 81 years; interquartile range (IQR), 73-87, 30.5% females] were randomized across 13 sites between December 2020 and March 2023. Half of the participants (n = 82) had an ejection fraction >50%. Most patients showed a high burden of comorbidities, with a median Charlson index of 3 (IQR: 2-4). Common co-morbidities included diabetes mellitus (41%, n = 69), atrial fibrillation (80%, n = 134), and chronic kidney disease (64%, n = 107). Patients exhibited a poor functional NYHA class (69% presenting NYHA III) and several signs of congestion. The mean composite congestion score was 4.3 (standard deviation: 1.7). Ninety per cent of the patients (n = 151) presented oedema and jugular engorgement, and 71% (n = 118) showed lung B lines assessed by ultrasound. Median inferior vena cava diameter was 23 mm, (IQR: 21-25), and plasmatic levels of N-terminal-pro-B-type natriuretic peptide (NTproBNP) and antigen carbohydrate 125 (CA125) were increased (median NT-proBNP 4969 pg/mL, IQR: 2508-9328; median CA125 46 U/L, IQR: 20-114). CONCLUSIONS: SALT-HF trial randomized 167 ambulatory patients with WHF and will determine whether an infusion of hypertonic saline therapy plus furosemide increases diuresis and improves decongestion compared to equivalent furosemide administration alone.
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Insuficiência Cardíaca , Humanos , Solução Salina Hipertônica/administração & dosagem , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/fisiopatologia , Feminino , Masculino , Idoso , Método Duplo-Cego , Resultado do Tratamento , Furosemida/administração & dosagem , Infusões Intravenosas , Seguimentos , Pessoa de Meia-Idade , Assistência Ambulatorial/métodos , Volume Sistólico/fisiologiaRESUMO
This work proposes a rigorous mathematical model capable of reproducing the adsorption process in dynamic regime on advanced monoliths geometries. For this, four bed geometries with axisymmetric distribution of channels and similar solid mass were proposed. In each geometry a different distribution of channels was suggested, maintaining constant the bed dimensions of 15 cm high and 5 cm radius. The mathematical modeling includes mass and momentum transfer phenomena, and it was solved with the COMSOL Multiphysics software using mass transfer parameters published in the literature. The overall performance of the column was evaluated in terms of breakthrough (CA/CA0 = 0.1) and saturation times (CA/CA0 = 0.9). The mass and velocity distributions obtained from the proposed model show good physical consistency with what is expected in real systems. In addition, the model proved to be easy to solve given the short convergence times required (2-4 h). Modifications were made to the bed geometry to achieve a better use of the adsorbent material which reached up to 80%. The proposed bed geometries allow obtaining different mixing distributions, in such a way that inside the bed a thinning of the boundary layer is caused, thus reducing diffusive effects at the adsorbent solid-fluid interface, given dissipation rates of about 323 × 10-11 m2/s3. The bed geometry composed of intersecting rings deployed the best performance in terms of usage of the material adsorbent, and acceptable hydrodynamical behavior inside the channels (maximum fluid velocity = 35.4 × 10-5 m/s and drop pressure = 0.19 Pa). Based on these results, it was found that it is possible to reduce diffusional effects and delimit the mass transfer zone inside the monoliths, thus increasing the efficiency of adsorbent fixed beds.
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Poluentes Ambientais , Poluentes Químicos da Água , Purificação da Água , Adsorção , Modelos Teóricos , Matemática , DifusãoRESUMO
Objetivos La educación sanitaria en pacientes con epilepsia influye positivamente en el autocontrol de la enfermedad, mejora su pronóstico y favorece el bienestar del paciente. El objetivo de este estudio fue evaluar una intervención educativa mediante cápsulas audiovisuales en pacientes con epilepsia en una unidad de monitorización videoelectroencefalográfica.Sujetos y métodosEs un ensayo clínico aleatorizado con dos grupos (intervención y control). Se reclutó a pacientes adultos con epilepsia que ingresaron en la unidad de monitorización videoelectroencefalográfica. Se crearon nueve vídeos sobre el diagnóstico y el tratamiento de la epilepsia, y recomendaciones de estilo de vida, que se administraron al grupo de intervención durante el ingreso. Se evaluó el conocimiento del paciente sobre su enfermedad con un cuestionario diseñado específicamente para este estudio. Se realizó una evaluación previa en el inicio del estudio, en el alta hospitalaria y a los tres meses, y se comparó el conocimiento sobre la epilepsia en ambos grupos en cada momento del estudio.ResultadosSe incluyó a 66 pacientes, con edad media de 39 ± 14,7 años (rango: 17-76) y una mediana de 8 años de evolución de la enfermedad (rango: 1-60 años). Un 53% eran mujeres. El tipo de epilepsia más frecuente fue el focal (95,5%). La puntuación media en el test preintervención fue de 57,2 ± 15,3. Los pacientes que recibieron la intervención educativa mostraron mejores puntuaciones en el postest en el alta hospitalaria (81,8 ± 11,2 frente a 62,8 ± 13,7; p = 0,001) y a los tres meses (76 ± 9,6 frente a 63,2 ± 12,8; p = 0,001).ConclusionesLa intervención educativa EPICAP mediante píldoras audiovisuales mejora de forma significativa el conocimiento de los pacientes sobre aspectos diagnósticos, terapéuticos y estilo de vida relacionados con la epilepsia. (AU)
AIMS. In patients with epilepsy health education has a positive influence on self-management of the disease, improves prognosis and enhances patient well-being. The aim of this study was to evaluate an educational intervention using instructional clips in patients with epilepsy in a video-electroencephalographic monitoring unit.SUBJECTS AND METHODSWe conducted a randomised clinical trial with two groups (intervention and control). Adult patients with epilepsy admitted to the video-electroencephalographic monitoring unit were recruited. Nine videos about the diagnosis and treatment of epilepsy, together with recommendations on lifestyle, were produced and administered to the intervention group while admitted. Patients knowledge of their disease was assessed by means of a questionnaire designed specifically for this study. A pre-assessment was conducted at the beginning of the study, at hospital discharge and at three months, and the knowledge of epilepsy in the two groups was compared at each time considered in the study.RESULTSSixty-six patients were included, with a mean age of 39 ± 14.7 years (range: 17-76) and a median of 8 years since disease onset (range: 1-60 years). Fifty-three per cent of the patients were women. Focal epilepsy was the most frequent type (95.5%). The mean score on the pre-intervention test was 57.2 ± 15.3. Patients who received the educational intervention showed better post-test scores at discharge from hospital (81.8 ± 11.2 versus 62.8 ± 13.7; p = 0.001) and at three months (76 ± 9.6 versus 63.2 ± 12.8; p = 0.001).CONCLUSIONSThe EPICAP educational intervention using instructional clips significantly improves patients knowledge of epilepsy-related diagnostic, therapeutic and lifestyle issues. (AU)
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Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Epilepsia/prevenção & controle , Conhecimento , Educação de Pacientes como Assunto , Gravação em VídeoRESUMO
TITLE: Parálisis central del nervio troclear tratada con debilitamiento del músculo oblicuo inferior.
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Músculos Oculomotores , Doenças do Nervo Troclear , Humanos , Músculos Oculomotores/inervação , Movimentos Oculares , Estudos Retrospectivos , Nervo TroclearRESUMO
AIMS: In patients with epilepsy health education has a positive influence on self-management of the disease, improves prognosis and enhances patient well-being. The aim of this study was to evaluate an educational intervention using instructional clips in patients with epilepsy in a video-electroencephalographic monitoring unit. SUBJECTS AND METHODS: We conducted a randomised clinical trial with two groups (intervention and control). Adult patients with epilepsy admitted to the video-electroencephalographic monitoring unit were recruited. Nine videos about the diagnosis and treatment of epilepsy, together with recommendations on lifestyle, were produced and administered to the intervention group while admitted. Patients' knowledge of their disease was assessed by means of a questionnaire designed specifically for this study. A pre-assessment was conducted at the beginning of the study, at hospital discharge and at three months, and the knowledge of epilepsy in the two groups was compared at each time considered in the study. RESULTS: Sixty-six patients were included, with a mean age of 39 ± 14.7 years (range: 17-76) and a median of 8 years since disease onset (range: 1-60 years). Fifty-three per cent of the patients were women. Focal epilepsy was the most frequent type (95.5%). The mean score on the pre-intervention test was 57.2 ± 15.3. Patients who received the educational intervention showed better post-test scores at discharge from hospital (81.8 ± 11.2 versus 62.8 ± 13.7; p = 0.001) and at three months (76 ± 9.6 versus 63.2 ± 12.8; p = 0.001). CONCLUSIONS: The EPICAP educational intervention using instructional clips significantly improves patients' knowledge of epilepsy-related diagnostic, therapeutic and lifestyle issues.
TITLE: EPICAP: intervención educativa mediante cápsulas audiovisuales en pacientes con epilepsia. Ensayo clínico aleatorizado.Objetivos. La educación sanitaria en pacientes con epilepsia influye positivamente en el autocontrol de la enfermedad, mejora su pronóstico y favorece el bienestar del paciente. El objetivo de este estudio fue evaluar una intervención educativa mediante cápsulas audiovisuales en pacientes con epilepsia en una unidad de monitorización videoelectroencefalográfica. Sujetos y métodos. Es un ensayo clínico aleatorizado con dos grupos (intervención y control). Se reclutó a pacientes adultos con epilepsia que ingresaron en la unidad de monitorización videoelectroencefalográfica. Se crearon nueve vídeos sobre el diagnóstico y el tratamiento de la epilepsia, y recomendaciones de estilo de vida, que se administraron al grupo de intervención durante el ingreso. Se evaluó el conocimiento del paciente sobre su enfermedad con un cuestionario diseñado específicamente para este estudio. Se realizó una evaluación previa en el inicio del estudio, en el alta hospitalaria y a los tres meses, y se comparó el conocimiento sobre la epilepsia en ambos grupos en cada momento del estudio. Resultados. Se incluyó a 66 pacientes, con edad media de 39 ± 14,7 años (rango: 17-76) y una mediana de 8 años de evolución de la enfermedad (rango: 1-60 años). Un 53% eran mujeres. El tipo de epilepsia más frecuente fue el focal (95,5%). La puntuación media en el test preintervención fue de 57,2 ± 15,3. Los pacientes que recibieron la intervención educativa mostraron mejores puntuaciones en el postest en el alta hospitalaria (81,8 ± 11,2 frente a 62,8 ± 13,7; p = 0,001) y a los tres meses (76 ± 9,6 frente a 63,2 ± 12,8; p = 0,001). Conclusiones. La intervención educativa EPICAP mediante píldoras audiovisuales mejora de forma significativa el conocimiento de los pacientes sobre aspectos diagnósticos, terapéuticos y estilo de vida relacionados con la epilepsia.
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Epilepsias Parciais , Epilepsia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Epilepsias Parciais/tratamento farmacológico , Epilepsia/terapia , Epilepsia/diagnóstico , Pacientes , Prognóstico , Inquéritos e Questionários , Adolescente , IdosoRESUMO
Lamellar ichthyosis (LI) is an autosomal recessive congenital ichthyosis characterized by generalized dry skin and severe scaling. It is caused by biallelic mutations in the TGM1 gene, however molecular data from non-Caucasian populations are limited. Results of genetic-molecular analysis of a group of LI pedigrees originating from two close small populations from south Mexico are presented. LI affected individuals belonging to 9 apparently unrelated families were studied. Exome sequencing or Sanger sequencing in probands from each family was carried out. Furthermore, DNA from 294 unaffected subjects from one of the communities were Sanger sequenced to determine the carrier frequency of the c.427C > T TGM1 variant. Five different TGM1 pathogenic variants, either in homozygous or in compound heterozygous state, were demonstrated in affected subjects. The two most common variants were c.427C > T (p.Arg143Cys) and c.1159+1G > T. A novel c.1645+1G > T TGM1 pathogenic allele was recognized. Carrier frequency analysis identified a total of 23 individuals heterozygous for the c.427C > T variant, predicting a prevalence of 78 carriers per 1000 inhabitants in the community. A high TGM1 allelic heterogeneity with 5 different LI-causing alleles in a limited geographic area was demonstrated. While the occurrence of homozygosity for a founder mutation is expected in small populations with high frequency of a particular autosomal recessive disorder, the occurrence of multiple pathogenic alleles has been previously described, a situation known as the Reúnion paradox. Our results expand the current knowledge of the mutational spectrum of TGM1-linked LI.
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Objetivo Determinar la correlación entre la sensibilidad al contraste y las características morfológicas obtenidas por tomografía de coherencia óptica en pacientes con degeneración macular relacionada con la edad avanzada tratados con dosis de carga de inhibidores del factor de crecimiento endotelial vascular (anti-VEGF). Diseño Se trata de un estudio ambispectivo (prospectivo+retrospectivo) observacional y analítico. Participantes Todos los pacientes de 55 años o más con degeneración macular relacionada con la edad que acudieron al departamento de Retina del servicio de Oftalmología y cumplieron con los criterios de inclusión entre marzo-mayo de 2022. Métodos Se recolectaron los datos por medio de la revisión de expedientes. Se analizaron los estudios de tomografía de coherencia óptica previa a la aplicación de inyecciones intravítreas de los pacientes que se encontraban en el mes posterior a la última dosis. Se incluyeron un total de 33 sujetos y un total de 30 continuaron seguimiento. Se realizaron pruebas de normalidad (Shapiro y Bartlett) entre los grupos de estudio, dando como resultado grupos no normales no homocedásticos. Los sujetos fueron sometidos a una nueva evaluación oftalmológica y nueva toma de mediciones retinianas. Resultados Se realizó un análisis de regresión lineal comparando los valores logarítmicos de la agudeza visual y la sensibilidad al contraste, obteniendo una relación significativa entre ambos valores posterior a la aplicación del tratamiento (p<0,0001). Asimismo, se demostró una correlación entre la disminución de los valores de la sensibilidad al contraste y todas las características evaluadas en el tomografía de coherencia óptica. Conclusiones Las estrategias de antiangiogénesis pueden conducir a mejores resultados en la función visual global, impactando positivamente en la sensibilidad al contraste (AU)
Objective To determine the correlation between contrast sensitivity and morphological characteristics obtained by optical coherence tomography in patients with age-related macular degeneration treated with a loading dose of vascular endothelial growth factor inhibitors (anti-VEGF). Design This is an ambispective (prospective+retrospective) observational, cross-sectional, and analytical study. Participants All patients over 55 years of age with age-related macular degeneration who attended the Retina service of the Ophthalmology department and met the inclusion criteria between March-May 2022. Methods Data collection was carried out by reviewing the records of patients.Optical coherence tomography studies prior to the application of intravitreal injections of patients who were currently in the first month after the last dose of anti-VEGF were analyzed. A total of 33 subjects were included, of which 30 continued follow-ups. Normality tests (Shapiro and Bartlett) were performed where a nonparametric data distribution was demonstrated. The subjects underwent a new ophthalmological evaluation and new retinal measurements of the affected eye. Results A linear regression analysis was performed comparing the logarithmic values of both visual acuity and contrast sensitivity, obtaining a significant relationship between both values after the application of treatment (P<.0001). Likewise, correlation was demonstrated between the decrease in contrast sensitivity values and all the characteristics evaluated in the patients optical coherence tomography. Conclusions Antiangiogenesis strategies can lead to better results in global visual function, positively impacting contrast sensitivity (AU)
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Humanos , Masculino , Feminino , Idoso , Inibidores da Angiogênese/uso terapêutico , Degeneração Macular/diagnóstico por imagem , Degeneração Macular/tratamento farmacológico , Tomografia de Coerência Óptica/métodos , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Sensibilidades de Contraste , Estudos Retrospectivos , Estudos Prospectivos , Acuidade VisualRESUMO
This study aimed to identify internal and external workload demands in professional referees, and to analyse the influence of the situational variables Game Period and Game Action. Three professional referees of the highest category were monitored during a national elite game. WIMU PRO inertial devices were used for workload monitoring via microtechnology, ultra-wide band and heart rate (HR) telemetry. The referees worked at around 82%HRMAX and spent 75% of the time at walking-jogging speed (0-12km/h). Game Action influenced the external workload (total distance and per intensities, impacts, player load, maximum and mean speed) while Game Period influenced the internal load (HRMEAN, HRMAX, %HRMAX and per intensities). Workload quantification in competition and the evaluation of the effect of situational variables are essential for setting up performance profiles and designing individual programmes that improve the training of basketball referees. (AU)
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Humanos , Masculino , Feminino , Adulto , Basquetebol , Carga de Trabalho , Estudos Transversais , Telemetria , Microtecnologia , Desempenho Físico FuncionalRESUMO
Antecedentes y objetivo El objetivo de nuestro estudio es definir el papel de la ecografía Doppler pulsada (PW-Doppler) de la vena femoral común en la evaluación de la dilatación de la vena cava inferior (VCI), la probabilidad de hipertensión pulmonar, la insuficiencia tricuspídea y la excursión sistólica del plano anular tricuspídeo (TAPSE). Métodos Se trata de un estudio prospectivo en dos hospitales en 74 pacientes ingresados con insuficiencia cardiaca aguda. Se realizó ecografía PW-Doppler de vena femoral común, ecocardiografía y evaluación de la VCI en el momento del ingreso, así como PW-Doppler y ecografía de VCI al alta hospitalaria. Resultados La detección de un flujo pulsátil (138 exploraciones) tuvo una curva ROC excelente para la detección de VCI mayor de 2cm (AUC 0,931, Sn95%, Sp 90%, VPP 93%, VPN 94%) con una odds ratio (OR) de 211,2 (intervalo de confianza del 95% 48,13-926,72). La pulsatilidad del flujo también tuvo el mayor rendimiento en la detección de la hipertensión pulmonar (AUC 0,8, Sn 95%, Sp 64%, VPP 84%, VPN 84%) y en la detección de la insuficiencia tricuspídea moderada-grave (AUC 0,79, Sn 95%, Sp 67%, VPP 88%, VPN 78%). Si el flujo es continuo, podemos descartar razonablemente una disminución del TAPSE (VPN 89%). Conclusión La detección del flujo PW-Doppler de vena femoral común puede ser una ventana alternativa para la detección de una dilatación de la VCI de 2cm, TR significativa y la probabilidad de hipertensión pulmonar elevada en la insuficiencia cardiaca aguda. También permite descartar razonablemente la disfunción del ventrículo derecho en casos de normalidad en estos pacientes (AU)
Background and objective The aim of our study is to define the role of Pulsed-Doppler (PW-Doppler) Ultrasound of the common femoral vein in the assessment of dilatation Inferior Vena Cava (IVC), probability of Pulmonary Hypertension (PH), Tricuspid Regurgitation (TR), and Tricuspid annular plane systolic excursion (TAPSE). Methods This is a prospective two-hospital study in 74 patients admitted with acute heart failure (AHF). We performed PW-Doppler ultrasound of the common femoral vein, Point of Care cardiac ultrasonography and assessment of the IVC at the time of admission, as well as PW-Doppler and ultrasound of the IVC at hospital discharge. Results The detection of a pulsatile flow (138 scans) had an excellent ROC curve for the detection of IVC greater than 2cm (AUC 0.931, Sn 95%, Sp 90%, PPV 93%, NPV 94%) with an Odds Ratio (OR) of 211.2 (95% confidence interval 48.13-926.72). The pulsatility of the flow also had the highest performance in the detection of PH (AUC 0.8, Sn 95%, Sp 64%, PPV 84%, NPV 84%) and in the detection of moderate-severe TR (AUC 0.79, Sn 95%, Sp 67%, PPV 88%, NPV 78%). If the flow is continuous, we can reasonably rule out diminished TAPSE (NPV 89%). Conclussion Detection of PW-Doppler flow of the common femoral vein may be an alternative window for the detection of an IVC dilation of 2cm, significant TR, and the likelihood of high PH in acute heart failure. It also allows us to reasonably rule out dysfunction of the right ventricle in cases of normality in these patients (AU)
Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Ecocardiografia Doppler/métodos , Veia Femoral/diagnóstico por imagem , Insuficiência Cardíaca/diagnóstico por imagem , Estudos Prospectivos , Doença AgudaRESUMO
Chenopodium quinoa Willd. it is an Andean cereal of great importance for human consumption due to its high nutritional value. In Colombia there is a high phenotypic and genotypic variability within quinoa crops, which has not been studied and has been maintained by the same farmers cycle after production cycle. The objective of this study was to carry out an interpopulation characterization of quinoa cultivated in different producing municipalities of the department of Boyacá, in Colombia, for which 19 morphological descriptors were used, which were evaluated in situ in nine municipalities and analyzed through descriptive statistics, principal component analysis, correlation and conglomerates. In the evaluation of the quantitative traits for all the populations, it was observed that the most variable descriptors were Number of teeth lower leaf (DHI), Lower leaf length (LHI), Width upper leaf (AHI) and Number of teeth upper leaf (DHS). Great segregation between and within individuals of Blanca de Jericó and Piartal was observed for panicle and leaf color and shape, stem color, presence of teeth, and axils on upper and lower leaves. A classification key is proposed that allows in the field to be able to morphologically differentiate the genotypes of Piartal and Blanca de Jericó. This research shows that among the most cultivated genotypes in the department of Boyacá, there is still an important phenotypic diversity given at the inter and intra-individual level, due to the phenological state and the agroclimatological conditions of the different producing regions.
Assuntos
Chenopodium quinoa , Humanos , Chenopodium quinoa/genética , Colômbia , Grão Comestível , Fenótipo , GenótipoRESUMO
PURPOSE: To identify novel genetic variants responsible for meiotic embryonic aneuploidy. METHODS: A prospective observational cohort study that included 29 couples who underwent trophectoderm biopsies from 127 embryos and performed whole-exome sequencing (WES) between November 2019 and March 2022. Patients were divided into two groups according to the expected embryo aneuploidy rate based on maternal age. RESULTS: After variant filtering in the WES analysis of 58 patients/donors, five heterozygous variants were identified in female partners from the study group that had an impact on embryo aneuploidy. Additionally, a slowdown in embryo development and a decrease in the number of blastocysts available for biopsy were observed in the study group embryos. CONCLUSION: This study has identified new candidate genes and variants not previously associated with meiotic embryo aneuploidy, but which are involved in important biological processes related to cell division and chromosome segregation. WES may be an efficient tool to identify patients with a higher-than-expected risk of embryo aneuploidy based on maternal age and allow for individualized genetic counselling prior to treatment.