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Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), illustrating the diagnostic and treatment challenges. Initially experiencing developmental delays and later, misdiagnosed tics, he was diagnosed with epilepsy with eyelid myoclonia at seven. His case includes key SYNGAP1 encephalopathy symptoms: intellectual disability, behavioral issues, and generalized epilepsy resistant to antiseizure medication. The identification of a specific variant adds to our knowledge, suggesting the necessity of considering SYNGAP1 -related DEE for unexplained neurodevelopmental delays and seizures. This case underlines the need for a personalized treatment approach focusing on quality of life and symptom management, advancing our understanding and treatment practices for genetic developmental and epileptic encephalopathy.

The aim of this scoping review is to evaluate the impact of smartphone application (SPA) technology in patients undergoing elective colonoscopy to measure compliance with appointments, cost-effectiveness, bowel preparation, and quality of life. The scoping review was performed according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews. Ovid Medline, Web of Science, Science Direct, Scopus, Cochrane Library, and PubMed were screened up to Oct 14, 2020, and bibliographies of the retrieved articles were included. Based on pre-specified inclusion and exclusion criteria, 8 primary studies were included in the final analysis from a total of 3,979 non-duplicate articles. Seven out of eight studies measured the bowel preparation quality. In six of these studies, patients in the smartphone group had a successful bowel preparation when compared with the control arm; on the other hand, one study did not find any differences between groups. Adherence to colonoscopy screening was assessed by one study. Patients in the digital intervention arm were significantly more likely to complete a screening test. Patient satisfaction during the periprocedural period of colonoscopy was assessed by five studies which reported significantly higher patient satisfaction in the intervention arm compared to the control arm. None of the studies measured cost-effectiveness. We came to the conclusion that a well-designed, user-friendly SPA can help and guide patients undergoing colonoscopy through the process of following up on their appointments, adhering to bowel preparation, and better understanding their disease condition. Future trials investigating SPAs should include cost-effectiveness and adherence to appointments as an endpoint.

The Pickering emulsion polymerization of styrene (St), divinylbenzene (DVB) as a crosslinking agent, and sodium 4-vinyl benzene sulfonate (VBS) used for in situ surface-modification of silica nanoparticles (SNps) was investigated. At 1.0 wt% DVB, amphiphilic SNps with hydrophobic patches were formed, further self-assembling into copolymer-SNps clusters occurred. Subsequently, these clusters grow by monomer swelling to finally lead to the formation of core-shell polymer microspheres. Unlike the hydrophilic patchy SNps, at 2.0 and 3.0 wt% DVB, surface-patterned SNps with higher effective hydrophobicity do not self-assemble in the water phase but rather lead to the formation of monoliths. The polymerization mechanisms related to the formation of polymer silica-coated microspheres hybrid-materials, or percolated monoliths with bi-continuous porosity, formed by interfacially jammed emulsion gel (bijels) templates, are discussed herein.

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Background: Current diagnostic methods for enamel caries detection are unable to detect caries lesions (incipient caries lesion) at a very early stage. Objective: This study aims to determine the remineralizing effect of three fluorinated compounds on demineralized subsurface tooth enamel using Raman spectroscopy characterization. Methods: In this experimental study, sixty impacted 3rd molars, with intact anatomical crowns recently extracted and without structural defects, were sectioned longitudinally in a mesio-distal direction using a diamond disc, obtaining two working surfaces (buccal and lingual). The 120 working surfaces obtained were immersed for 96 h in a demineralization solution at 37°C in order to demineralize the enamel surface. All samples were randomly divided into three groups (n=30 each) and their surfaces were treated with silver diamine fluoride (SDF), Difluoride silane (DSF), and acidulated phosphate fluoride (APF), and with no treatment undertaken in the control group (CG). The samples were immersed in alternating solutions for demineralization and remineralization at pH 4.4 and pH 7.0, respectively. The results were analyzed with Principal Component Analysis (PCA) in order to determine the variance. Results: The most important difference (91.7%) is observed in APF group between PCA1 respect to PCA2, followed by DSF (91.5%) and SDF (76.3%) respectively. Therefore, a greater remineralization in the dental enamel can be observed by the three experimental groups. Conclusion: The APF and DSF have the effect of recovering the mineralization of dental enamel, except for the SDF. Functional groups OH- and PO43- were identified in all subsurface.

Background: Ocular trauma is one of the leading causes of decreased visual acuity and monocular blindness in the pediatric population. Since its occurrence is potentially preventable, it is essential to understand its demographic characteristics and risk factors to alert and implement prevention and health promotion programs. Methods: We conducted a retrospective study in which we reviewed 187 clinical records of patients ≤ 15 years old with the diagnosis of severe ocular trauma admitted in 2017 to the Hospital Civil de Guadalajara. We analyzed demographic variables, circumstances of the event, type of treatment, and the evolution of visual acuity and complications. Results: In total, 187 patients and 188 eyes were included; the average age was 6.99 ± 4.1 years. Children of 2 to 5 years of age (41%) were the most affected, and a higher occurrence was observed in males (73%). Open ocular trauma was the most common type of injury (72.7%) caused by sharp objects (45.4%). Most injuries occurred at home (78.1%), without adult supervision (48.1%), and during leisure time (74.9%). Most events were accidental (80.4%), although 12.3% were direct aggression. Surgery was required in 179 patients, in whom corneal injury repair (43.2%) was the most commonly used procedure. Final visual acuity was quantified in 132 eyes, and visual acuity < 20/200 was found in 18.1%. Loss of 4.2% of the eyeballs was recorded. Conclusions: The highest proportion of cases was identified in male patients ≤5 years old, unsupervised by an adult. Many eye injuries are preventable, so it is necessary to implement socio-educational programs in alliance with pediatric organizations that alert the severity of the problem and promote safe environments.

LLas enfermedades infecciosas son un problema de salud que a pesar de los avances médicos siguen cobrando vidas en todo el mundo; como las septicemias. La presente investigación tuvo por objetivo diseñar, estandarizar e implementar un protocolo inexistente en Guatemala, para el diagnóstico rutinario de hemocultivos positivos dentro de las instalaciones del Laboratorio Clínico del Hospital General San Juan de Dios, lugar en donde se encuentra el único espectrómetro de masas de tipo Maldi-tof (Matrix Assisted Laser Desorption Ionization-Time of flight-mass spectrometry). Se utilizaron 240 muestras de pacientes de los diferentes servicios. El diagnóstico se realizó comparando las identificaciones obtenidas a partir de cultivos microbiológicos puros con muestras directas de botellas con caldo BHI (Brain Heart Infusion). Los resultados de las dos metodologías fueron evaluados con el diseño estadístico “apareado o emparejado en grupo”. La comparación no evidenció discordancia en las identificaciones; pero sí en los tiempos de respuesta. La reducción de tiempo fue de 42.9 h para bacterias Gram positivo, 45.0 h para bacterias Gram negativo y 126.2 h para levaduras, todos a favor de identificaciones a partir de muestras directas. Con esta investigación se pretende ofrecer una nueva alternativa que permitirá brindar un diagnóstico rápido, confiable y certero a la población guatemalteca. También permitirá reducir la morbimortalidad de los pacientes con septicemias, promover el ahorro de insumos hospitalarios, disminuir el tiempo de estancia hospitalaria, ahorrar el consumo de antibióticos innecesarios y contribuir indirectamente a combatir la resistencia antimicrobiana; un problema actual de gran importancia a nivel mundial.

Background: Congenital kidney and urinary tract anomalies are the most common cause of chronic kidney disease in the first three decades of life. Stenosis of the ureteropelvic junction may cause dilation of the collecting system in the fetal kidney. This study aimed to determine hydronephrosis due to congenital ureteropelvic stenosis treatment outcome according to the age of the intervention. Methods: We conducted a retrospective descriptive study that included pediatric patients with hydronephrosis secondary to ureteropelvic junction stenosis operated by the Anderson-Hynes open pyeloplasty method from 2010 to 2016. Patients were divided into two groups: group A, children < 1 year of age, and group B, children > 1 year of age. We analyzed ultrasonographic parameters, renal function, and clinical data. Inferential statistics were used with the Mann-Whitney U-test and X2 test. Intra-group data were assessed with the Wilcoxon test. Results: We included 52 patients: group A (n = 16, 30%) and group B (n = 36, 70%). The male sex predominated, and mainly the left renal unit. The most important surgical finding was stenotic segment. The median right glomerular filtration rate was 24.1 mL/min (19.0-34.5) pre-surgical and 38.2 mL/min (35.9-41.09) post-surgical in group A (p = 0.028), and 28.4 mL/min (18.5-35.0) pre-surgical and 37 mL/ min (35.7-46.0) post-surgical in group B (p = 0.003). The median left glomerular filtration rate was 30 mL/min (21.4-39.0) pre-surgical and 40.0 mL/min (37.7-44.6) post-surgical in group A (p = 0.005) and 18.4 mL/min (14.2-29.2) pre-surgical and 37 mL/min (33.1-38.5) post-surgical in group B (p < 0.001). Conclusions: Correction of ureteropelvic stenosis before one year of age results in better renal function than a later correction.

Raw cane sugars have been claimed to be rich in natural phenolic compounds which, in contrast to refined sugar, may increase the nutritional value of foods and contribute to the development of healthier foods and diets. The use of non-refined cane sugars in food formulation seems an interesting option since they provide natural antioxidants with sucrose still being the major sugar present, minimizing the loss of technological properties. However, substitution of refined sugar could imply an undesired impact on physicochemical and sensory properties, conditioning consumer's acceptance. Functional jams (strawberry and kiwifruit) with a larger fruit to sugar ratio than conventional ones, in which white sugar was replaced by granulated jaggery (0, 15, 30, 45, 60 y 75 % w/w) were obtained. Impact of sugar replacement was assessed by evaluating physicochemical properties (moisture, water activity, pH, total soluble sugars, sugar profile (glucose, fructose, sucrose), and optical, rheological, mechanical and antioxidant properties). Sensory properties and microbiological stability were also determined. Jaggery improved the antioxidant properties of jams (total phenolic content, total flavonoid content, antiradical activity by the DPPH and ABTS methods), proportionally to the amount of cane sugar incorporated and more significantly in the case of kiwifruit. Other physicochemical properties were not significantly affected by jaggery, except for color. However, these differences were not crucial in the acceptability tests, since acceptance of jams containing jaggery was generally good, very good when intermediate replacement percentages were used. Conclusions of the present work suggest that granulated jaggery can be used to formulate sugar-rich food products such as jams in order to increase their nutritional value, with little impact on physicochemical properties and good consumer acceptance.

Objective To determine the prevalence of varying classes of obesity in patients undergoing tracheostomy and the associated complication rates as compared with nonobese patients. Study Design A retrospective chart review was performed from 2012 to 2018 on all patients who underwent open tracheostomy by the Department of Otolaryngology–Head and Neck Surgery. Setting All tracheostomies were performed at a single tertiary care center. Methods Patients were classified by body mass index (BMI) according to the World Health Organization classification system: underweight (40). Charts were reviewed for patient demographic information, Charlson Comorbidity Index score, surgical indication, operative time, tracheostomy tube type, and postoperative complications. Results A total of 387 patients (mean ± SD BMI, 31.3 ± 14.2) were identified per the inclusion/exclusion criteria. Of patients with BMI >30 (n=153), 34.6% were categorized as obesity class I, 29.4% as class II, and 35.9% as class III. The most common indication for tracheostomy was malignancy in nonobese patients (41.5%) and respiratory failure for obese patients (58.2%). Operative time was significantly longer in obese patients, and most of these patients required an extended-length tracheostomy tube. Patients with a BMI >40 had higher rates of multiple postoperative complications or death ( P = .009). Underweight patients also had a higher rate of complication than normal-overweight patients ( P = .016). Conclusion Class III and underweight patients had higher rates of postoperative complications, which should be taken into consideration during perioperative counseling.

Six sediment samples weighing between 224–735 g were collected in June of 2016 from Cayo Nuevo reef, located at the Campeche Bank, southern Gulf of Mexico. Samples were collected by SCUBA diving, from were two stations at depths of 7.6 and 18.2 m. Sediment was sieved and molluscs (adults and micromolluscs ≤ 10 mm) were sorted, examined, and identified to the lowest taxonomic level. A total of 1,347 specimens was found, of which 224 shells were dead and 1,123 were alive. Thirty-four families, 53 genera, and 67 species were identified. The most abundant families were Chamidae and Arcidae for the Bivalvia class, and Caecidae and Tornidae for the Gastropoda class. The vertical range of Bentharca sp. was extended.

Consistent with their reported abundance in soils, several Burkholderia sensu lato strains were isolated from the rhizosphere of maize plants cultivated at different sites in central México. Comparative analysis of their 16S rRNA gene sequences permitted their separation into three distinctive clades, which were further subdivided into six other clusters by their close resemblance to (1) Trinickia dinghuensis; (2) Paraburkholderia kirstenboschensis, P. graminis, P. dilworthii and P. rhynchosiae; (3) B. gladioli; (4) B. arboris; (5) B. contaminans, or (6) B. metallica representative species. Direct confrontation assays revealed that these strains inhibited the growth of pathogenic Fusarium oxysporum f. sp. radicis-lycopersici, and F. verticillioides within a roughly 3–55% inhibition range. The use of a DIESI-based non-targeted mass spectroscopy experimental strategy further indicated that this method is an option for rapid determination of the pathogen inhibitory capacity of Burkholderia sensu lato strains based solely on the analysis of their exometabolome. Furthermore, it showed that the highest anti-fungal activity observed in B. contaminans and B. arboris was associated with a distinctive abundance of certain m/z ions, some of which were identified as components of the ornbactin and pyochelin siderophores. These results highlight the chemical diversity of Burkholderia sensu lato bacteria and suggest that their capacity to inhibit the Fusarium-related infection of maize in suppressive soils is associated with siderophore synthesis.

INTRODUCCIÓN: en nuestro hospital la diálisis peritoneal es el método de sustitución renal de primera instancia. Los septos en la cavidad abdominal en niños con insuficiencia renal crónica son complicaciones por repetidos cuadros de peritonitis. OBJETIVO: determinar las condiciones relacionadas con el desarrollo de septos en la cavidad abdominal en pacientes pediátricos con diálisis peritoneal. MATERIALES Y MÉTODOS: estudio observacional retrospectivo, de marzo del 2012 a octubre del 2014, incluyendo pacientes pediátricos con enfermedad renal crónica con diálisis peritoneal. Los septos fueron diagnosticados por medio de ultrasonido abdominal. Estadística inferencial con exacta de Fisher y U de Mann Whitney, asociación de riesgo con razón de momios (OR). Se incluyeron 60 pacientes en dos grupos: con septos (n=20) y sin septos (n=40): sexo masculino n=11 (55%) y n=25 (62%); edad en años (mediana) 8 (0.5-15) y 9 (0.5-16),respectivamente (p = 0.756); duración de diálisis (mediana) 12 (4 60) y 16 (2-81) meses, también respectivamente (p = 0.653). RESULTADOS: no se encontró la causa de la insuficiencia renal en 13 (65%) de los pacientes del grupo con septos y en 25 (62%) del grupo sin septos; factores relacionados: solución glucosada hiperosmolar n=5 (25%) y n=11 (28%) (p = 0.917); cirugía abdominal posterior a Tenkoff n=3 (15%) y n=7 (18%); cuadros de peritonitis n=20 (100%) y n=29 (72%) (p = 0.025); necesidad de tratamiento sistémico n=19 (95%) y n=22 (55%) (p = 0.004), todos los datos para los grupos con y sin septos, respectivamente. CONCLUSIONES: dos o más eventos de peritonitis y necesidad de tratamiento sistémico son factores relacionados con el desarrollo de septos abdominales en niños con insuficiencia renal crónica en diálisis peritoneal.