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1.
Artigo em Inglês | MEDLINE | ID: mdl-37621212

RESUMO

Insulinoma is a rare cause of non-ketotic hypoglycemia both in adults and in children. Pediatric patients account for approximately 5% of all cases, mostly due to isolated benign lesions, but it can also be part of a multiple endocrine neoplasia type 1 syndrome (MEN1). We report the case of a patient with multiple hospitalizations related to hypoglycemia and neuroglycopenia symptoms, with multiple studies demonstrating the presence of an insulinoma as part of the spectrum of MEN1 syndrome. The primary significance of our report is to underscore that insulinoma can present as the initial manifestation of MEN1 syndrome in 10% of pediatric patients. Furthermore, we describe a likely pathogenic variant in the MEN1 gene not previously reported in the literature. Our report highlights the importance of the convergence of clinical, biochemical and molecular investigations in establishing a precise diagnosis, prognosis, and appropriate follow-up for pediatric patients with hypoglycemia.

2.
BMC Ophthalmol ; 23(1): 330, 2023 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-37474932

RESUMO

BACKGROUND: Sarcoidosis is an inflammatory disorder in which patients frequently develop ocular manifestations that precede systemic involvement, sometimes it even presents as an ocular isolated form of the disease. The purpose of this study is to report the ocular and systemic manifestations of sarcoidosis in a series of Mexican patients, as there is a low incidence of the disease in this population. METHODS: A retrospective case series of patients with positive classification criteria for sarcoidosis who attended Asociacion Para Evitar la Ceguera en Mexico, IAP between 2011 and 2022. Descriptive statistics were used to report the clinical, laboratory, and imaging findings and treatment. Numerical results were presented using median values and first and third quartiles for distribution. RESULTS: Fourteen patients were included in this study, 10 of them had definite ocular sarcoidosis (biopsy-proven), 4 had presumed ocular sarcoidosis. The median age of onset was 52 (34; 67), with a predominance of female patients (71.4%). Ten patients (71.4%) debuted with ocular manifestations. The most common forms of ocular involvement were bilateral anterior uveitis (50%) and panuveitis (28.6%). Median follow-up was 24 (13-49) months. CONCLUSIONS: Sarcoidosis is a rare, underdiagnosed condition in Mexico and ocular involvement can be an early manifestation of the disease. Ophthalmologists should be alert to the signs of ocular sarcoidosis and collaborate with a multidisciplinary team to screen for systemic involvement if suspicion is high.


Assuntos
Endoftalmite , Sarcoidose , Uveíte , Humanos , Feminino , Masculino , Estudos Retrospectivos , México/epidemiologia , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/epidemiologia , Uveíte/diagnóstico , Olho , Endoftalmite/complicações
3.
Front Genet ; 14: 1183362, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37476413

RESUMO

Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.

4.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1551100

RESUMO

La espectroscopía de reflectancia en el infrarrojo cercano (NIRS) es una tecnología rápida, multiparamétrica, amigable con el ambiente, de bajo costo y gran exactitud, para el análisis de diversos componentes en alimentos, en suelo y en agricultura. El objetivo del presente estudio fue construir modelos de calibración NIRS, para la predicción de nutrientes en tejido vegetal de caña de azúcar, para producción de panela, cultivada en la región de la Hoya del río Suárez. Un total de 416 muestras de tejido fueron escaneadas en el segmento espectral Vis-NIR. El análisis quimiométrico, se realizó con el software WinISI V4.10, aplicando la regresión de mínimos cuadrados parciales modificados, junto a una validación cruzada. Se evaluaron cuatro modelos con diferentes tratamientos matemáticos y el rendimiento de las calibraciones, se hizo por medio de la validación externa, analizando las medidas de bondad de ajuste, como el coeficiente de determinación de la predicción, el error estándar de la predicción ajustado por el sesgo y la desviación predictiva residual. Los resultados muestran que el modelo de calibración para N presentó el mayor poder predictivo. Para macronutrientes, las calibraciones, con mayor poder predictivo, fueron P y K y para micronutrientes, el modelo para B, mientras que para Cu presentó el más bajo poder predictivo. Se encontraron modelos adecuados para la predicción de los contenidos de N, Ca y P; para los demás nutrientes, se recomienda ampliar el conjunto de calibración.


Near Infrared Reflectance Spectroscopy (NIRS) is a fast, multiparametric, environmentally friendly, low-cost, and highly accurate technology for the analysis of components in food, soil, and agriculture. The purpose of this study was to generate NIRS calibration models for the prediction of nutrients in plant tissue of sugarcane to panela production cultivated in the Hoya del Río Suárez region. A total of 416 tissue samples were scanned in Vis-NIR spectral segment. Chemometric analysis was performed with the WinISI V4.10 software applying modified partial least squares regression with cross-validation. Four models with different mathematical treatments were evaluated, and the performance of calibrations was made through external validation analyzing the goodness-of-fit measures as prediction determination coefficient, standard error of the bias-adjusted prediction, and residual predictive deviation. The results showed that the calibration model for N had the highest predictive power. For macronutrients, the calibrations with the best predictive power were for P and K, and micronutrients for B, while Cu presented the lowest predictive power. Adequate models were found for the prediction of N, Ca, and P. In the case of the other nutrients, it is recommended to expand the calibration set.

5.
Trop Anim Health Prod ; 55(3): 178, 2023 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-37119301

RESUMO

Digestibility and intake are parameters difficult and expensive to estimate under grazing conditions; therefore, the aim of this study was to develop near-infrared reflectance spectroscopy (NIRS) calibrations applied to feces (F-NIRS) and evaluate their accuracy to predict dry matter digestibility (DMD) and dry matter intake (DMI) of Colombian creole cattle. Five digestibility trials using creole steers were conducted; indigestible neutral detergent fiber (iNDF) was used as internal marker and Cr2O3 and TiO2 as external markers. A total of 249 forage and 396 fecal samples from individual animals were collected, dried, and grinded for conventional chemical analysis. For spectral analysis, fecal samples were pooled across collection periods (77 samples). Chemometric analysis was performed using WinISI V4.10 software applying the modified partial least squares method. Cross-validation was performed to avoid overfitting the models. The goodness-of-fit statistics considered were the coefficient of determination in cross-validation and prediction sets (R2cv and r2, respectively) and the ratio performance deviation (RPD). Fecal NIRS calibrations developed for forage and supplement DMD showed a satisfactory fit (R2cv =0.87 and RPD=2.77 and R2cv=0.92 and RPD=3.50, respectively). The accuracy of fecal output equations using chromium (Cr) and titanium (Ti) was similar in terms of R2cv (0.92) and RPD (3.63 vs. 3.57). Total DMI equations using Ti performed better compared to Cr (R2cv = 0.82 vs. 0.78; RPD=2.41 vs. 2.17, respectively). The F-NIRS models were validated using a completely independent set of fecal samples showing a moderate fit (r2>0.8 and RPD>2.0). This study showed that F-NIRS is a feasible tool to predict DMD and DMI of creole steers under grazing conditions. However, previous to socialization, this requires an improvement in accuracy of the calibrated equations related to grazing animals in different production contexts.


Assuntos
Ração Animal , Dieta , Animais , Bovinos , Colômbia , Ração Animal/análise , Fezes/química , Dieta/veterinária , Espectroscopia de Luz Próxima ao Infravermelho/veterinária , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Fibras na Dieta/análise , Digestão
6.
Rev. Fac. Med. (Bogotá) ; 70(2): e93814, Apr.-June 2022. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1422754

RESUMO

Resumen La neumonía sigue siendo una de las principales causas de consulta y de hospitalización a la que, además de su un alto impacto en términos de morbilidad y mortalidad, se suma la actual problemática de resistencia a los antimicrobianos, por lo que establecer directrices que permitan su adecuado diagnóstico y tratamiento es de gran importancia para obtener mejores desenlaces clínicos y promover un uso racional de antibióticos en estos pacientes. La presente guía de práctica clínica (GPC) contiene recomendaciones basadas en la evidencia para el diagnóstico y tratamiento de la neumonía adquirida en la comunidad en adultos, las cuales fueron realizadas mediante el proceso de adaptación de GPC basadas en la evidencia para el contexto colombiano.


Abstract Pneumonia continues to be one of the main causes of consultation and hospitalization to which, besides its high impact on morbidity and mortality, the current problem of antimicrobial resistance is added; thus, establishing guidelines that allow its adequate diagnosis and treatment is of great importance to obtain better clinical outcomes and promote a rational use of antibiotics in these patients. This clinical practice guideline (CPG) contains evidence-based recommendations for the diagnosis and treatment of community-acquired pneumonia in adult population; these recommendations were made by means of the process of adaptation of evidence-based CPGs for the Colombian context.

7.
Plants (Basel) ; 11(9)2022 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-35567167

RESUMO

Environmental conditions are crucial for crops' growth, development, and productivity. One of the most important physiological factors associated with the production of crops is the use of solar radiation for the photosynthesis process, which determines the amount of assimilates available for crop growth and yield. Three age classes (4, 6, and 14 years) and three planting densities (143, 128, and 115 palms ha-1) were evaluated in a commercial interspecific Elaeis Oleifera x Elaeis guineensis hybrid Coari x La Mé. The light interception patterns and the photosynthetic performance were determined. Measurements were taken of the leaf area, the number of leaves, and incident and photosynthetically transmitted active radiation. Also, photosynthetic rates, light, and yield were measured. The canopy extinction coefficient (Kc) was estimated using the Monsi and Saeki model. Under the evaluated conditions, the average Kc value for 4-year-old palms was 0.44; for the 6-year-old group of palms, the average value was 0.40, and 0.32 for the 14-year-old palms, with coefficients of determination (R2) greater than 0.8. A pattern associated with the age of the crop was observed, where the Kc decreased in groups of adult palms. The results showed increased Kc as the planting density decreased. No statistically significant differences were observed between planting densities or ages in the light and CO2 curves regarding photosynthesis. The leaf level in which the measurement was made influenced photosynthesis. Thus, the highest values of the photosynthesis parameters were observed in leaf 17. The crop yield tended to stabilize 8 years after planting under 143 and 128 palms per hectare, but 14 years after planting, the Fresh fruit bunch (FFB) production was still growing under 115 palms per hectare. The results showed that, up to year 14 after planting, the highest cumulative yield was achieved with 115 palms per hectare. This was partly caused by a sharp decline in production observed under 128 palms per hectare, which could indicate that in the long production cycle of the OxG hybrids, the 115-palms-per-hectare planting density would result in higher cumulative FFB production. Furthermore, the results showed that the optimum planting density for the hybrids of the present study would be 120 palms ha-1, corresponding to a planting distance of 9.8 m between plants.

8.
Front Genet ; 13: 1092301, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36685875

RESUMO

Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism.

9.
J Oral Microbiol ; 13(1): 1956219, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34434531

RESUMO

Background: Electrolytes, proteins, and other salivary molecules play an important role in tooth integrity and can serve as biomarkers associated with caries. Objective: To determine the concentration of potential biomarkers in children without caries (CF) and children with caries (CA). Methods: Unstimulated saliva was collected, and the biomarkers quantified in duplicate, using commercial Enzyme Linked Immunosorbent Assay (ELISA) kits to determine IgA, fibronectin, cathelicidin LL-37, and statherin levels, as well as colorimetric tests to detect formate and phosphate. Results: Significantly higher concentrations of statherin was detected in the CF group (Median: 94,734.6; IQR: 92,934.6-95,113.7) compared to the CA2 group (90,875.0; IQR: 83,580.2-94,633.4) (p = 0.03). Slightly higher median IgA (48,250.0; IQR: 31,461.9-67,418.8) and LL-37 levels (56.1; IQR 43.6-116.2) and a lower concentration of formate were detected in the CF group (0.02; IQR 0.0034-0.15) compared to the group with caries (IgA: 37,776.42; IQR: 33,383.9-44,128.5; LL-37: 46.3; IQR: 40.1011-67.7; formate: 0.10; IQR: 0.01-0.18), but these differences were not statistically significant. Conclusion: The fact that these compounds have been identified as good markers for caries among European adults highlights the difficulty of identifying universal biomarkers that are applicable to all ages or to different populations.

10.
Micromachines (Basel) ; 12(1)2020 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-33374994

RESUMO

The yeast Saccharomyces cerevisiae is one of the most basic model organisms for studies of aging and other phenomena such as division strategies. These organisms have been typically studied with the use of microfluidic devices to keep cells trapped while under a flow of fresh media. However, all of the existing devices trap cells mechanically, subjecting them to pressures that may affect cell physiology. There is evidence mechanical pressure affects growth rate and the movement of intracellular components, so it is quite possible that it affects other physiological aspects such as aging. To allow studies with the lowest influence of mechanical pressure, we designed and fabricated a device that takes advantage of the slipstreaming effect. In slipstreaming, moving fluids that encounter a barrier flow around it forming a pressure gradient behind it. We trap mother cells in this region and force daughter cells to be in the negative pressure gradient region so that they are taken away by the flow. Additionally, this device can be fabricated using low resolution lithography techniques, which makes it less expensive than devices that require photolithography masks with resolution under 5 µm. With this device, it is possible to measure some of the most interesting aspects of yeast dynamics such as growth rates and Replicative Life Span. This device should allow future studies to eliminate pressure bias as well as extending the range of labs that can do these types of measurements.

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