[Clinical and molecular study of the Noonan syndrome]. / Estudio clínico y molecular del síndrome de Noonan.

Noonan syndrome is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. The PTPN11 gene is located on the long arm of chromosome 12 and is primarily responsible for the clinically diagnosed cases of this entity. We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.1507 G>A). Several clinical features and the genetic alterations associated with this mutation are discussed.

Antioxidant activity of four color fractions of bee pollen from Mérida, Venezuela.

Bee pollen has been reported to show antioxidant and radical scavenging activities; contributing to anti-inflammatory and gastroprotective properties. Venezuelan honeybee pollen has been little studied, but is consumed because its properties are known from other countries reports. On the basis of these reports, water, ethanol and methanol soluble fractions were prepared from dried bee-pollen commercially available and produced by La Montaña farm (Mérida, Venezuela). These fractions were evaluated for their functional properties, specifically, polyphenol content and total antioxidant activity. Pollen samples were separated by color in four fractions: yellow, brown, orange and ochre. Polyphenol content ranged between 396.7 to 1286.7 gallic acid equivalents GAE/100 g pollen; it was highest in pollen homogenates obtained with ethanol, followed by those obtained with methanol and water. The antioxidant activity ranged from 0.50 to 1.84 micromoles Trolox equivalents TEAC/100 g for water and ethanol homogenates respectively. The results presented in this work suggest that the ethanol extract of bee pollen show a potent antioxidant activity, comparable to human plasma, probably due to total polyphenol content of bee pollen. This is important because the bee pollen would be beneficial not only as a dietary supplement but also as a functional food.

Importancia del diagnóstico diferencial de los tumores fibroepiteliales mamarios en adolescentes. Descripción de un caso / Importance of the differential diagnosis of breast fibroepithelial tumors in adolescents: Clinical case

El fibroadenoma es la lesión benigna fibroepitelial más frecuente de la mama en la mujer joven, correspondiendo alrededor del 90% de las lesiones sólidas de la glándula en la adolescencia. Sin embargo, el fibroadenoma gigante juvenil es una afección de la glándula mamaria poco frecuente, que afecta principalmente a mujeres menores de 18 años. Debido a la similitud de las características clínicas del fibroadenoma gigante juvenil y el tumor filodes, además del rápido crecimiento de ambas entidades, es importante establecer el diagnóstico diferencial de ambas enfermedades cuando se sospeche de alguna de ellas, con la finalidad de garantizar la actitud terapéutica más adecuada. Adolescente de 14 años de edad sin antecedentes familiares ni personales de interés, quien acude remitida a nuestra consulta en septiembre del 2021 en vista de hallazgos ecográficos, por presentar asimetría mamaria a expensas de nódulo mamario izquierdo de 5 meses de evolución. Se realiza biopsia por aguja gruesa ecoguiada con el resultado de fibroadenoma gigante juvenil. Se practicó tumorectomía. El diagnóstico histopatológico se mostró con fibroadenoma gigante juvenil de mama izquierda. Basándonos en la bibliografía consultada y nuestra experiencia, un diagnóstico diferencial temprano y preciso, en conjunto a la extirpación quirúrgica para una correcta caracterización, sería el manejo más adecuado de estas pacientes. La táctica y técnica quirúrgica dependen de la edad al momento del diagnóstico, de las características clínicas y radiológicas de la glándula mamaria y del tumor, e inclusive de los deseos de la paciente. (AU)

Fibroadenoma is the most common benign fibroepithelial lesion of the breast in young women, accounting for around 90% of solid lesions of the gland in adolescence. However, juvenile giant fibroadenoma is a rare condition of the mammary gland, which mainly affects women under 18 years of age. Due to the similarity of the clinical characteristics of juvenile giant fibroadenoma and phyllodes tumor, in addition to the rapid growth of both. Entities, it is important to establish the differential diagnóstico of both pathologies when one of them is suspected, in order to guarantee the most appropriate therapeutic approach. A 14-year-old adolescent with no family or personal history of interest, who was referred to our clinic in September 2021 in view of ultrasound findings due to presenting breast asymmetry at the expense of a 5-month-old left breast nodule. An ultrasound-guided core needle biopsy was performed with the result of giant juvenile fibroadenoma. Lumpectomy was performed. Histopathological diagnóstico compatible with juvenile giant fibroadenoma of the left breast. Based on the consulted bibliography and our experience, an early and precise differential diagnóstico, together with surgical removal for a correct characterization would be the most appropriate management of these patients. The surgical tactics and technique depend on the age at the time of diagnóstico, the clinical and radiological characteristics of the mammary gland and the tumor, and even the wishes of the patient. (AU)

Plasma rico en plaquetas autólogo en la cicatrización de heridas por cirugía electiva, ¿mito o realidad? Estudio prospectivo experimental / Autologous platelet rich plasma in the healing of wounds by elective surgery, myth or reality? Experimental prospective study

El plasma rico en plaquetas es un producto biológico definido como parte de la fracción plasmática de sangre autóloga con concentración plaquetaria por encima de la línea de base, considerándose como tecnología terapéutica endógena con potencial para estimular y acelerar la cicatrización de los tejidos.Objetivo : Evaluar el uso del plasma rico en plaquetas autólogo en la cicatrización de heridas quirúrgicas de pacientes intervenidos por colecistectomía convencional electiva en el Hospital General Nacional "Dr. Ángel Larralde".Métodos : Estudio cohorte, observacional y analítico, con diseño experimental, prospectivo, de corte longitudinal. Muestra no probabilística, intencional, conformada por pacientes ajustados a criterios de inclusión. Ficha de Recolección de Datos diseñada con las escalas de Vancouver y de Evaluación Objetiva de Paciente y Observador. Los resultados obtenidos se tabularon en una matriz de datos realizada con Microsoft®Excel y, posteriormente, presentados por medio de tablas de distribución de frecuencias y gráficos. Para el análisis e interpretación de los resultados, se recurrió al programa SPSS 26®, de licencia libre. Se utilizó el estadístico Chi Cuadrado.Resultados : Total de 26 pacientes: grupo de estudio con 11 pacientes, grupo control con 15 pacientes. Se calculó valor de p para ambas escalas, resultando˂ 0.05 en todas las observaciones. Conclusión : Se observó una evolución satisfactoria evidente en los pacientes a los cuales se les aplicó el PRP respecto al grupo control, de manera que apoya la premisa de que el PRP contribuye a una cicatrización rápida, sin complicaciones y de fácil obtención(AU)

Platelet-rich plasma is a biological product defined as part of the plasmatic fraction of autologous blood with platelet concentration above the baseline, being considered as an endogenous therapeutic technology with the potential to stimulate and accelerate tissue healing.Objective : To evaluate the use of autologous platelet-rich plasma in the healing of surgical wounds in patients undergoing elective conventional cholecystectomy at the National General Hospital "Dr. Angel Larralde.Methods : Cohort, observational and analytical study, with an experimental, prospective design, longitudinal cut. Non-probabilistic, intentional sample, made up of patients adjusted to inclusion criteria. Data Collection Sheet designed with the Vancouver scales and the Objective Assessment of Patient and Observer. The results obtained were tabulated in a data matrix made with Microsoft®Excel and, later, presented by means of frequency distribution tables and graphs. For the analysis and interpretation of the results, the free license program SPSS 26® was used. The Chi Square statistic was used.Results : Total of 26 patients: study group with 11 patients, control group with 15 patients. The p value was calculated for both scales, resulting in˂ 0.05 in all observations. Conclusion : An evident satisfactory evolution was observed in the patients to whom the PRP was applied compared to the control group, so that it supports the premise that the PRP contributes to rapid healing, without complications and easy to obtain(AU)

Cistoadenoma mucinoso de cuerpo y cola de páncreas: a propósito de un caso / Mucinous cystadenoma of the body and tail of the pancreas: apropos of a case

Las neoplasias quísticas pancreáticas se observan en cuerpo y cola del páncreas en mujeres de mediana edad. Son consideradas lesiones premalignas y requieren extirpación quirúrgica según tamaño y características imagenológicas. El cistoadenoma mucinoso es una neoplasia epitelial que produce mucina, forma quistes que surgen del páncreas y puede progresar a carcinoma invasivo. Representan la mitad de las neoplasias quísticas del páncreas. Lesiones sintomáticas en pacientes operables deben resecarse. En caso de lesiones asintomáticas, es importante diferenciar su estirpe (serosa o mucinosa) y su riesgo de degeneración. Una vez valorado el paciente, se indica tratamiento quirúrgico u observación. Caso clínico: Paciente femenina de 43 años con antecedentes de hipertensión arterial sistémica e hipotiroidismo controlados, quien presenta cuadro clínico caracterizado por distensión abdominal y síntomas dispépticos. Se realiza ultrasonografía abdominal y tomografía de abdomen y pelvis con doble contraste evidenciándose lesión redondeada hipodensa en rango líquido con septos finos en su interior, definida, que impresiona formar parte de cuerpo y cola de páncreas. Se decide resolución quirúrgica mediante laparotomía exploradora. Informe histopatológico: cistoadenoma mucinoso cuerpo y cola de páncreas. Conclusión: Las neoplasias quísticas del páncreas son tumoraciones que en la actualidad gracias al desarrollo de nuevas tecnologías se observan en nuestra práctica médica con más frecuencia. Al sospechar una neoplasia quística del páncreas, el tratamiento adecuado es la resección quirúrgica adaptada a la localización del tumor. El manejo de esta patología debe ser individualizado de acuerdo a las características clínicas, imagenológicas e histopatológicas del mismo(AU)

Pancreatic cystic neoplasms are observed in the body and tail of the pancreas in middle-aged women. They are considered premalignant lesions and require surgical removal depending on their size and imaging characteristics. Mucinous cystadenoma is an epithelial neoplasm that produces mucin, forms cysts that arise from the pancreas, and can progress to invasive carcinoma. They represent half of the cystic neoplasms of the pancreas. Symptomatic lesions in operable patients should be resected. In the case of asymptomatic lesions, it is important to differentiate their type (serous or mucinous) and their risk of degeneration. Once the patient has been assessed, surgical treatment or observation is indicated. Clinical case: A 43-year-old female patient with a history of controlled systemic arterial hypertension and hypothyroidism, who presented a clinical picture characterized by abdominal distension and dyspeptic symptoms. Abdominal ultrasonography and tomography of the abdomen and pelvis with double contrast were performed, a rounded, hypodense lesion in the liquid range with fine septa inside, defined, which appears to be part of the body and tail of the pancreas. Surgical resolution was decided by exploratory laparotomy. Histopathological report: mucinous cystadenoma of the body and tail of the pancreas. Conclusion: Cystic neoplasms of the pancreas are tumors that today, thanks to the development of new technologies, are observed more frequently in our medical practice. When suspecting a cystic neoplasm of the pancreas, the appropriate treatment is surgical resection adapted to the location of the tumor. The management of this pathology must be individualized according to its clinical, imaging and histopathological characteristics(AU)

Synthesis and cytotoxic evaluation of new (4,5,6,7-tetrahydro-indol-1-yl)-3-R-propionic acids and propionic acid ethyl esters generated by molecular mimicry.

Indolones 4 and 5, and indolyl-aminoacids 6a-e, 7a-e, and 8a and 8b were designed by structural modification of lead compound 3. These compounds were tested on six tumor cell lines to determine the role of the azepinone ring and the N-phenyl substituent in the cytotoxicity of 3. Our results show that 4 and 5 have dramatically reduced cytotoxicity, due to the loss of the azepinone moiety of lead compound 3. In contrast, indolyl-aminoacids 6a, 7a, and 8a (N-(L)-cysteine ethyl ester derivatives) inhibited the proliferation of almost all cancer cell lines tested, even though they lack the azepinone ring. In addition, derivative 6c (N-(D)-alanine methyl ester group) was selectively cytotoxic to HCT-15 cells. Preliminary structure-activity relationship (SAR) studies with these compounds revealed the importance of the ethyl ester moiety on the amino acid moiety. Compounds 6a-e, 7a-e, and 8a and 8b were obtained in good yields by a catalytic Paal-Knorr reaction carried out under microwave irradiation using commercially available chiral amino esters or amino acids and 1,4-dicarbonyl compounds.

Antioxidant activity of four color fractions of bee pollen from Mérida, Venezuela

Bee pollen has been reported to show antioxidant and radical scavenging activities; contributing to anti-inflammatory and gastroprotective properties. Venezuelan honeybee pollen has been little studied, but is consumed because its properties are known from other countries reports. On the basis of these reports, water, ethanol and methanol soluble fractions were prepared from dried bee-pollen commercially available and produced by La Montaña farm (Mérida, Venezuela). These fractions were evaluated for their functional properties, specifically, polyphenol content and total antioxidant activity. Pollen samples were separated by color in four fractions: yellow, brown, orange and ochre. Polyphenol content ranged between 396.7 to 1286.7 gallic acid equivalents GAE/100 g pollen; it was highest in pollen homogenates obtained with ethanol, followed by those obtained with methanol and water. The antioxidant activity ranged from 0.50 to 1.84 μmoles Trolox equivalents TEAC/100 g for water and ethanol homogenates respectively. The results presented in this work suggest that the ethanol extract of bee pollen show a potent antioxidant activity, comparable to human plasma, probably due to total polyphenol content of bee pollen. This is important because the bee pollen would be beneficial not only as a dietary supplement but also as a functional food.

Actividad antioxidante de polen apícola de Mérida, Venezuela, fraccionado en cuatro colores. Se ha reportado que el polen de las abejas tiene actividad antioxidante y secuestra radicales libres; relacionada con sus propiedades antiinflamatorias y gastroprotectivas. El polen apícola de Venezuela ha sido poco estudiado, pero se consume gracias a las propiedades conocidas por reportes provenientes de otros países. Tomando como base estos reportes, se prepararon fracciones solubles en agua, etanol y metanol del polen apícola seco comercialmente disponible y producido por la Granja La Montaña (Mérida, Venezuela). Estas fracciones fueron evaluadas en cuanto a sus propiedades funcionales, específicamente, contenido de polifenoles y la actividad antioxidante total. Las muestras de polen fueron separadas en cuatro fracciones de acuerdo al color: amarillo, marrón, naranja y ocre. El contenido de polifenoles se encontraba entre 396,7 a 1286,7 equivalentes de ácido gálico EAG/100 g de polen, y fue mayor en los homogenatos obtenidos con etanol, seguido por aquellos obtenidos con metanol y agua. La actividad antioxidante varió entre 0.50 a 1.84 μmoles equivalentes de Trolox TEAC/100 g par los homogenatos de agua y etanol respectivamente. Los resultados presentados en este trabajo sugieren los extractos de etanol de polen de abejas presentan una potente actividad antioxidante, comparable al plasma humano, probablemente debida a su contenido total de polifenoles. Esto es importante ya que el polen de abejas podría servir no solo como un suplemento alimenticio sino como una alimento funcional.

Estudio clínico y molecular del síndrome de Noonan / Clinical and molecular study of the Noonan syndrome

El síndrome de Noonan es una entidad autosómica dominante relativamente común, clínicamente variable y genéticamente heterogénea, caracterizado por reducción del crecimiento postnatal, dismorfismo facial distintivo, alteraciones cardíacas y déficit cognitivo variable. El gen PTPN11 se encuentra localizado en el brazo largo del cromosoma 12 y es el principal responsable de los casos clínicamente diagnosticados de esta entidad. Se reporta el caso de un lactante mayor masculino, de 18 meses de edad, evaluado de forma multidisciplinaria con diagnóstico clínico y molecular de síndrome de Noonan, con la mutación en sentido errado del gen PTPN11, G503R (c.1507 G>A). Se discutieron los diversos hallazgos clínicos y las alteraciones genéticas asociadas con esta mutación.

Noonan syndrome is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. The PTPN11 gene is located on the long arm of chromosome 12 and is primarily responsible for the clinically diagnosed cases of this entity. We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.1507 G>A). Several clinical features and the genetic alterations associated with this mutation are discussed.

Intramolecular hydrogen bonding (P=O--H) stabilizes the chair conformation of six-membered ring phosphates.

[reaction: see text] Six-membered cyclic phosphates (2-phenoxy-2-oxo-1,3,2-dioxaphosphorinanes) bearing an internal protected or unprotected hydroxyl group were designed, synthesized, and studied by NMR and computational methods. Selective opening of O-isopropylidene-protected 1,2-diols at the primary site was achieved with either triethylsilane or trimethylallylsilane in the presence of BF3.OEt2. Applied to 5,6-O-isopropylidenepentofuranosides, this reaction gave rise to the formation of the corresponding 1,3-diol precursors for the six-membered ring phosphates containing an O-isopropyl or O-1,1-dimethyl-3-butenyl functional group at C-6. The O-1,1-dimethyl-3-butenyl protecting group was efficiently removed after the phosphorylation with BF3.OEt2, and the six-membered cyclic phosphates containing free hydroxyl groups were obtained. A cyclic phosphate with a free hydroxyl group oriented cis to the phosphoryl group shows a vicinal coupling constant 3J(HP) that is in accordance with the chair conformation. This is due to the formation of a seven-membered intramolecular hydrogen-bonded ring structure that stabilizes the chair conformation. Thus, the strong tendency of the phenoxy group to be in an axial position is diminished by the internal hydrogen bonding interaction. Computational studies provided strong support for the experimental observation.

Alteraciones de la concentración de leucocitos y subpoblaciones de linfocitos de cerdos que sobrevivieron al desafío con el virus de la fiebre porcina clásica / Changes in leucocyte and lymphocyte subpopulations of pigs that survived classical swine fever virus challenge

La infección con el virus de la fiebre porcina clásica (FPC) provoca la disminución de todas las subpoblaciones de leucocitos circulantes y una inmunosupresión marcada en los cerdos que se enferman y mueren. Sin embargo, no se ha informado del efecto del virus sobre los leucocitos circulantes en cerdos que sobreviven a la infección. Con objeto de conocer este efecto se estudiaron 6 cerdos que, después de ser desafiados experimentalmente con el virus de la FPC, desarrollaron la enfermedad, pero posteriormente se recuperaron. Los parámetros evaluados en estos cerdos fueron los signos clínicos, la temperatura rectal, la biometría hemática y las subpoblaciones del linfocitos determinadas por rosetas de eritrocitos. Los resultados mostraron que hubo un incremento en la temperatura rectal desde el día siete haste el día doce posinoculación, asociada a anorexia, decaimiento y diarrea ligera. En los primeros siete días hubo una disminución marcada de la concentración de leucocitos totales, linfocitos, leucocitos polimorfonucleares segmentados y en banda, monocitos, linfocitos T totales (TE), T de alta afinidad (Taa). B con receptor fc (Bfc) y Null. Al mismo tiempo se observó un incremento de T autólogos (Taut), que son células inmaduras, y no hubo alteración de los linfocitos B con receptor de complemento (Bc). Sin embargo, a partir del séptimo día se incrementaron los valores de la mayoría de las células y disminuyeron los Taut. Estos resultados indican que la recuperación de los animales estuvo asociada al incremento de los leucocitos circulantes