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Toxocara canis can produce the "larva migrans" syndrome in humans, and in puppies, it can cause severe digestive disorders. The most used treatments are based on anthelmintics, although there are reports of anthelmintic (AH) resistance. The Yucatan Peninsula has a great variety of plant species whose AH properties are still unknown. The objective of this study was to evaluate the in vitro AH activity of ethanolic (EE), methanolic (ME) and aqueous (AE) extracts from the leaves of five native plant species of the Yucatan Peninsula on T. canis eggs of dogs from Merida, Yucatan. As part of a screening, the EE of the plants Alseis yucatanensis, Calea jamaicensis, Cameraria latifolia, Macrocepis diademata, and Parathesis cubana were evaluated at doses of 2400 and 3600 µg/ml. The EE and AE of A. yucatanensis and M. diademata presented high percentages (≥ 91.3%) of inhibition of the larval development of T. canis after six days of exposure. The lowest LC50 and LC99 was presented by the ME from A. yucatanensis (255.5 and 629.06 µg/ml, respectively) and the ME from M. diademata (222.4 and 636.5 µg/ml, respectively), and the AE from A. yucatanenesis (LC50 of 535.9 µg/ml). Chemical profiling of the most potent AH extract (Alseis yucatanensis) was carried out by LC-UV-HRMS. Data from the ME and AE from this plant indicated the presence of the known glucosylngoumiensine, kaempferol 3,7-diglucosyde, uvaol, linoleic acid and linolenic acid together with unknown alkaloids. The EE, ME and AE from leaves of M. diademata and A. yucatanensis could be developed as natural alternatives to control T. canis.
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Antihelmínticos , Extractos Vegetales , Hojas de la Planta , Toxocara canis , Animales , Extractos Vegetales/farmacología , Extractos Vegetales/química , Antihelmínticos/farmacología , Antihelmínticos/química , Toxocara canis/efectos de los fármacos , Perros , Hojas de la Planta/química , México , Larva/efectos de los fármacosRESUMEN
More than 65 species of the genus Microcotyle Van Beneden & Hesse, 1863, have been described to date, most of them infecting Perciformes. Among the scorpaenoids (Perciformes, formerly Scorpaeniformes) the species of the genus Microcotyle parasitize sebastids and scorpaenids worldwide. In this study, we provide new morphological and molecular data for Microcotyle spp. in sebastids and scorpaenids from the Western Mediterranean and north-east Atlantic. Specimens of Helicolenus dactylopterus (Delaroche, 1809) (n = 107) and Scorpaena spp. (n = 107) were examined and their microcotylid specimens morphologically and molecularly characterized. Microcotyle merche n. sp. ex H. dactylopterus and specimens of Microcotyle algeriensis Ayadi, Gey, Justine & Tazerouti, 2016 from a new host and locality (Scorpaena scrofa from the north-east Atlantic) are herein described. Both species are phylogenetically close, but their morphology is markedly different mostly because the anterior lobe of the haptor present in other Microcotyle species is almost absent in M. algeriensis. Findings of M. merche n. sp. in the Mediterranean also excludes the presence of Microcotyle sebastis in this sea, encouraging the review of the exceptionally large host range and geographical distribution of this species.
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Perciformes , Trematodos , Animales , Peces , Especificidad del HuéspedRESUMEN
Given the low incidence of musculoskeletal tumors during pregnancy, publications on the subject are scarce and treatment guidelines nonexistent. We present five cases of musculoskeletal tumors in pregnant women, three with metastasizing malignant neoplasms and two with aggressive giant cell tumors. The three patients diagnosed during their gestational period were operated before the end of pregnancy, adapting surgical techniques to minimize risk to mother and fetus. Adjuvant therapies were postponed until the end of gestation. All newborns were delivered at term vaginally, except for one where a cesarean section was required. After a mean follow-up of 69.96 months (±56.38), all patients were free of disease, except for the one diagnosed with an extraskeletal myxoid chondrosarcoma who died at 4 years from diagnosis. Surgery plays a key role in the treatment of musculoskeletal tumors diagnosed during pregnancy. These patients must be treated by multidisciplinary teams at sarcoma reference hospitals, involving the obstetrics team in the decision-making process, and adapting each step of the diagnosis and treatment to the gestational period. Key words: pregnancy, musculoskeletal tumors, sarcoma, cancer, oncological surgery.
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Condrosarcoma , Neoplasias de los Tejidos Conjuntivo y Blando , Sarcoma , Cesárea , Extremidades , Femenino , Humanos , Recién Nacido , EmbarazoRESUMEN
The composition of extracellular vesicles (EVs) is altered in many pathological conditions, and their molecular content provides essential information on features of parent cells and mechanisms of crosstalk between cells and organs. Metabolic Syndrome (MetS) is a cluster of clinical manifestations including obesity, insulin resistance, dyslipidemia and hypertension that increases the risk of cardiovascular disease and type 2 diabetes mellitus. Here, we investigated the crosstalk between liver and adipocytes by characterizing EVs secreted by primary hepatocytes isolated from Zucker rat model, and studied the effect they have on 3T3-L1 adipocytes. We found that steatotic hepatocytes secrete EVs with significantly reduced exosomal markers in comparison with their lean counterpart. Moreover, proteomic analysis revealed that those EVs reflect the metabolic state of the parent cell in that the majority of proteins upregulated relate to fat metabolism, fatty acid synthesis, glycolysis, and pentose phosphate pathway. In addition, hepatocytes-secreted EVs influenced lipolysis and insulin sensitivity in recipient 3T3-L1 adipocytes. Untargeted metabolomic analysis detected alterations in different adipocyte metabolic pathways in cells treated with hepatic EVs. In summary, our work showed that steatosis has a significant impact in the amount and composition of EVs secreted by hepatocytes. Moreover, our data point to the involvement of hepatic-EVs in the development of pathologies associated with MetS.
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BACKGROUND AND AIM: Soft tissue sarcomas are exceptionally located in the elbow region. The aim of this work was to study the soft tissue sarcomas of the elbow region, their epidemiological and histopathological characteristics, anatomical features, the treatment performed, and the results obtained, in a unit of musculoskeletal tumours. METHODS: Retrospective review of ten patients with a mean follow-up of 65.0 ± 11.9 (range 21-132) months with soft tissue sarcomas located in the elbow region operated in our centre between 2008 and 2016. RESULTS: Mean age was 60.8 ± 6.7 years. Undifferentiated pleomorphic sarcoma was the most frequent histological diagnosis. Limb preservation surgery was performed in 90% of patients. Three patients were previously operated without following surgical oncology guidelines in another hospital, and this was statistically related to the need for more than one surgery to control the disease. R1 margin was obtained in 5 patients and R0 in another 5. Adjuvant radiotherapy was used in 7 cases. In 4 patients, subsequent surgery was performed for local or systemic control of the disease. Local recurrence occurred in 3 cases and in 5 there was distant disease. CONCLUSION: The elbow region presents difficulty in achieving wide margins due to the proximity of neurovascular structures, adjuvant and / or neoadjuvant therapies could play an important role in performing limb preservation surgery. It would be advisable to refer these tumours to specialized units with multidisciplinary teams.
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Codo , Sarcoma , Neoplasias de los Tejidos Blandos , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sarcoma/epidemiología , Sarcoma/patología , Sarcoma/terapia , Neoplasias de los Tejidos Blandos/epidemiología , Neoplasias de los Tejidos Blandos/patología , Neoplasias de los Tejidos Blandos/terapiaRESUMEN
RESUMEN Objetivo. Establecer mediante experimentos por lote la capacidad de remoción, la cinética y termodinámica de adsorción del carbón activado preparado a partir de la cáscara de yuca (Manihot esculenta) en la remoción del colorante azul directo 86. Materiales y métodos. La metodología experimental consistió inicialmente en la preparación del carbón activado por activación química de la cáscara de yuca con H3PO4 y su posterior calcinación a 530°C. En la caracterización se determinaron las propiedades de textura mediante el índice de yodo e índice de azul de metileno, se cuantificaron los grupos funcionales orgánicos ácidos y básicos con el método Boehm, y se realizó el análisis próximo siguiendo las normas ASTM D-2867-70, ASTM D2866 y ASTM D2866-94. En el estudio por lote, el efecto de varios parámetros sobre la capacidad de adsorción fueron evaluados: el pH (2, 4, 8 y 10), la temperatura (25, 30 y 40°C) y la concentración inicial de colorante (20, 40, 60, 80 y 100 mg/L). Tanto las características fisicoquímicas como los ensayos de adsorción del carbón activado preparado a partir de la cáscara de yuca (CAY) fueron comparadas con otro de marca comercial (CAM). Resultados. Los resultados de la caracterización indican que ambos carbones tienen una química de superfície heterogénea, de naturaleza ácida para el CAY y básica para el CAM. La máxima capacidad obtenida fue 6.1 mg/g para el CAY y de 3.7 mg/g para el CAM. Los cálculos termodinámicos indican que la remoción es espontánea y para ambos carbones la cinética se ajusta al modelo de pseudo segundo orden. Conclusiones. El carbón activado obtenido a partir de la cáscara de yuca puede considerarse un adsorbente eficiente en la remoción de colorantes.
ABSTRACT Objective. To establish by means of experimenting by batch the capacity of removal, the kinetics and adsorption thermodynamics of activated carbon prepared from manioc husk (Manihot esculenta) in the removal of direct blue 86 dye. Materials and methods. Firstly, the experimental methodology worked on the preparation of activated carbon by chemical activation of manioc husk with H3PO4 calcined at 530°C. In the characterization the texture properties were determined by means of the blue methylene and iodine indices, the basic and acidic functional groups were quantified by the Boehm method, and the proximate analyses were done following the norms ASTM D2867-70, ASTM D2866 and ASTM D2866-94. During the batch studies, the effect of several parameters over the adsorption capacity was evaluated: pH (2, 4, 8 and 10), temperature (25, 30 and 40°C) and initial concentration of the dye (20, 40, 60, 80 and 100 mg/L). Both physicochemical and adsorption characteristics of the activated carbon from manioc husk (CAY) were compared against those of a commercial brand (CAM). Results. The results of characterization showed that both carbons have a chemistry heterogeneous surface, acidic for CAY and basic for CAM. The maximum capacity obtained was 6.1 mg/g for CAY and 3.7 mg/g for CAM. The thermodynamic calculations showed that the removal was spontaneous. The kinetics for both carbon samples fits a pseudo second-order model. Conclusions. The activated carbon obtained from the manioc husk can be considered an efficient adsorbent for the removal of dyes.
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Termodinámica , Cinética , Manihot , Carbón OrgánicoRESUMEN
Twitter is one of the most popular social media networks that, in recent years, has been increasingly used by researchers as a platform to share science and discuss ongoing work. Despite its popularity, Twitter is not commonly used as a medium to teach science. Here, we summarize the results of #EUROmicroMOOC: the first worldwide Microbiology Massive Open Online Course taught in English using Twitter. Content analytics indicated that more than 3 million users saw posts with the hashtag #EUROmicroMOOC, which resulted in over 42 million Twitter impressions worldwide. These analyses demonstrate that free Microbiology MOOCs shared on Twitter are valuable educational tools that reach broad audiences throughout the world. We also describe our experience teaching an entire Microbiology course using Twitter and provide recommendations when using social media to communicate science to a broad audience.
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Microbiología , Medios de Comunicación Sociales , Comunicación , Difusión de la Información/métodos , Red SocialAsunto(s)
Hipoxia/etiología , Leucocitosis/complicaciones , Leucocitosis/diagnóstico , Insuficiencia Respiratoria/etiología , Adulto , Errores Diagnósticos/prevención & control , Humanos , Hipoxia/diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Leucocitosis/terapia , Masculino , Oximetría , Presión Parcial , Insuficiencia Respiratoria/diagnóstico , Mecánica RespiratoriaRESUMEN
ABSTRACT Objective. Decoloring wastewater from a paint factory making use ofChlorella sp., microalgae as a biological way of treatment. Materials and methods. Samples of this microalgae previously cultivated with nourishing fertilizer under photoperiods of light and darkness were taken to test the microalgae Chlorella sp., initial concentration effect in the bioremoval process. For this purpose, it was cultivated in 0.10, 0.20 and 0.30 units of absorbance in bioreactors with 200 mL wastewater with and without nutrients. The biotest with the best rate of colour removal was chosen and the DBO5 and DQO were marked out. The immobilized Chlorella sp., in kappa carrageenan was also tested. Results. In the tests colour decrease percentage were 81.7, 69.7 and 58.3% without nutrients in the initial concentrations of 0.10, 0.20 and 0.30 units of absorbance respectively and 72.6, 69.0 and 86.8% for 0.10, 0.20 and 0.30 units of absorbance with nutrients respectively in the day of maximum growth. The immobilized microalgae score were 72.60% and 78.36% of color removal for 0.4 and 1.6 units of absorbance respectively. The higher colour removal test score was that with nutrients at 0.30 units of absorbance with several changes in DBO5 and DQO values. Conclusion. The biological wastewater treatment making use of Chlorella sp., microalgae can be considered as an effective choice in decolorating wastewater.
RESUMEN Objetivo. Decolorar aguas residuales obtenidas de una empresa de pinturas, empleando la microalga Chlorella sp., como medio biológico de tratamiento. Materiales y métodos. Muestras de la microalga previamente cultivada con fertilizante como nutriente y fotoperiodos de luz y oscuridad, se tomaron para evaluar el efecto de la concentración inicial de la microalga Chlorella sp., en el proceso de bioremoción. Para tal fin, esta se cultivó a 0.10, 0.20 y 0.30 unidades de absorbancia en biorreactores con 200 mL de aguas residuales en presencia y ausencia de nutrientes. Se seleccionó el bioensayo con mejores porcentajes de remoción del color y se le determinó el DBO5 y DQO. Chlorella sp., inmovilizada en kappa carragenina también se estudió. Resultados. Los porcentajes de reducción de color de los bioensayos en ausencia de nutrientes fueron de 81.7, 69.7 y 58.3% para las concentraciones iniciales de 0.10, 0.20 y 0.30 unidades de absorbancia respectivamente y en presencia de nutrientes fueron 72.6, 69.0 y 86.8% para 0.10, 0.20 y 0.30 unidades de absorbancia respectivamente, en el día de máximo crecimiento. Los resultados de la microalga inmovilizada fueron de 72.60% y 78.36% de remoción del color para 0.4 y 1.6 unidades de absorbancia respectivamente. El bioensayo con mayor rendimiento de remoción fue el realizado en presencia de nutrientes a 0.30 unidades de absorbancia con cambios importantes en los valores de DBO5 y DQO. Conclusión. El tratamiento biológico de aguas empleando la microalga Chlorella sp., puede considerarse una alternativa eficaz en la decoloración de aguas residuales.
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The Central American locust (CAL) Schistocerca piceifrons piceifrons Walker is one of the most harmful plant pests in the Yucatan Peninsula, where an important gregarious zone is located. The olfactory response and host plant acceptance by the CAL have not been studied in detail thus far. In this work, the olfactory response of the CAL to odor of various plant species was evaluated using an olfactometer test system. In addition, the host plant acceptance was assessed by the consumption of leaf area. Results showed that the CAL was highly attracted to odor of Pisonia aculeata. Evaluation of host plant acceptance showed that the CAL fed on Leucaena glauca and Waltheria americana, but not on P. aculeata or Guazuma ulmifolia. Analysis of leaf thickness, and leaf content of nitrogen (N) and carbon (C) showed that the CAL was attracted to plant species with low leaf C content.
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Saltamontes , Hojas de la Planta , Olfato , Animales , Conducta Alimentaria , Himenópteros , Nitrógeno , Plantas , Estados UnidosRESUMEN
BACKGROUND: Docetaxel-cyclophosphamide (TC) has become a common regimen in moderate-high-risk early breast cancer (EBC), but the incidence of chemotherapy-induced nausea and vomiting (CINV) with this regimen is not well established. This trial investigates the effect of guideline-consistent prophylaxis on CINV related to TC regimen and explores the efficacy of aprepitant among resistant patients. PATIENTS AND METHODS: This prospective multicentre study enrolled 212 chemotherapy-naïve EBC patients receiving T-75 mg/m(2) and C-600 mg/m(2). Antiemetic therapy on the first cycle consisted of dexamethasone for 3 d plus 5-hydroxytryptamine (5-HT3) antagonists on day 1, according to Multinational Association of Supportive Care in Cancer guidelines. The primary end-point was complete response (CR) (no emesis and no need of rescue treatment within the initial 120 h). Patients failing CR on cycle 1 entered in a single-arm study exploring the efficacy of aprepitant on the second cycle. Patients' diaries and Functional Living Index-Emesis (FLIE) questionnaires were collected in cycles 1 and 2. RESULTS: Among the 185 evaluable patients on cycle 1, 161 (87%, 95% confidence interval [CI]: 82.2-91.8) achieved a CR. Twenty-three patients received aprepitant on cycle 2, and 12 reached a CR (52.2%, 95% CI: 31.8-72.6). The absence of CR had a very substantial impact on quality of life on cycles 1 (FLIE before and after: 23.8-38.1, p = 0.0124) and 2 (18.3-42.9, p = 0.0059). CONCLUSIONS: Guideline-consistent antiemetic prophylaxis for the TC regimen is associated with a low incidence of CINV. Aprepitant is effective as secondary prevention of CINV and should be considered as rescue therapy in patients treated with moderate emetogenic chemotherapy.
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Antieméticos/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Neoplasias de la Mama/tratamiento farmacológico , Ciclofosfamida/efectos adversos , Morfolinas/uso terapéutico , Náusea/prevención & control , Prevención Secundaria/métodos , Taxoides/efectos adversos , Vómitos/prevención & control , Adulto , Anciano , Anciano de 80 o más Años , Antieméticos/efectos adversos , Aprepitant , Neoplasias de la Mama/patología , Dexametasona/uso terapéutico , Docetaxel , Femenino , Humanos , Persona de Mediana Edad , Morfolinas/efectos adversos , Náusea/inducido químicamente , Estadificación de Neoplasias , Estudios Prospectivos , Calidad de Vida , Terapia Recuperativa , Antagonistas del Receptor de Serotonina 5-HT3/uso terapéutico , España , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento , Vómitos/inducido químicamenteRESUMEN
We analyzed a possible association between RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer (CRC). Genomic DNA samples were obtained from the peripheral blood of 176 Mexican patients with CRC at diagnosis and from 195 individuals that formed the control group. The polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Association was estimated by odds ratio (OR). The haplotypes and linkage disequilibrium were established using the Arlequin v3.5 software. We found that the RUNX3 polymorphisms analyzed were in Hardy-Weinberg equilibrium. The RUNX3 rs2236852 AA genotype and A allele showed association with CRC (OR = 0.39, 95%CI = 0.21-0.73, P < 0.01; OR = 0.65, 95%CI = 0.49-0.87, P < 0.01, respectively), while the rs6672420, rs11249206, and rs760805 polymorphisms did not show significant association with CRC. The TA haplotype (SNPs rs760805 and rs2236852) showed an increased risk for CRC (OR = 2.52, 95%CI = 1.47-4.30, P < 0.001). In conclusion, we found that the AA genotype and A allele of rs2236852 polymorphism confer a decreased CRC risk, while the TA haplotype appears to increase the risk of CRC development in Mexican patients.
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Neoplasias Colorrectales/genética , Subunidad alfa 3 del Factor de Unión al Sitio Principal/genética , Predisposición Genética a la Enfermedad , Haplotipos , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Femenino , Humanos , Masculino , México , Persona de Mediana Edad , Oportunidad Relativa , Factores de Riesgo , Adulto JovenRESUMEN
Introducción: Los niños con síndrome de Down (SD) tienen mayor riesgo de desarrollar enfermedad otorrinolaringológica (ORL). Recomendaciones internacionales sugieren realizar tamizaje auditivo precoz y control periódico por especialista. Nuestro objetivo fue caracterizar la enfermedad ORL en niños con SD y proponer una recomendación adaptada a nuestra realidad. Pacientes y método: Estudio transversal, descriptivo, en niños de 6 meses a 15 años con SD. Los datos se obtuvieron por medio de entrevista a los padres y revisión de fichas clínicas. Resultados: Se analizaron 134 pacientes, con una edad promedio de 44,5 meses. El 78,8% de ellos presentaba enfermedad ORL, siendo la más frecuente la rinitis alérgica y otitis con efusión. El tamizaje auditivo estaba alterado en un 25% de ellos, el 50% de los mayores de 3 años con estudio de sueño tenían apnea obstructiva del sueño. Los niños de mayor edad tuvieron estadísticamente mayor frecuencia de enfermedad ORL. Conclusiones: Esta serie muestra una alta frecuencia de enfermedad ORL en niños con SD, lo que refuerza la necesidad de realizar tamizaje auditivo, sospechar e identificar las apneas obstructivas del sueño y derivación rutinaria al especialista para optimización de las condiciones auditivas que permitan el mejor desarrollo del niño con SD.
Introduction: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. Patients and method: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. Results: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. Conclusions: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.
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Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Enfermedades Otorrinolaringológicas/epidemiología , Otitis Media con Derrame/epidemiología , Síndrome de Down/complicaciones , Rinitis Alérgica/epidemiología , Enfermedades Otorrinolaringológicas/etiología , Enfermedades Otorrinolaringológicas/fisiopatología , Chile , Estudios Transversales , Polisomnografía , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/etiología , Apnea Obstructiva del Sueño/epidemiología , Pérdida Auditiva/epidemiología , Pruebas AuditivasRESUMEN
INTRODUCTION: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. PATIENTS AND METHOD: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. RESULTS: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. CONCLUSIONS: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.
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Síndrome de Down/complicaciones , Otitis Media con Derrame/epidemiología , Enfermedades Otorrinolaringológicas/epidemiología , Rinitis Alérgica/epidemiología , Adolescente , Niño , Preescolar , Chile , Estudios Transversales , Femenino , Pérdida Auditiva/epidemiología , Pruebas Auditivas , Humanos , Lactante , Masculino , Enfermedades Otorrinolaringológicas/etiología , Enfermedades Otorrinolaringológicas/fisiopatología , Polisomnografía , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/etiologíaRESUMEN
INTRODUCTION: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65-75 % of cases), maternal uniparental disomy 15 (20-30 % of cases), and imprinting defect (1-3 %). DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from Angelman syndrome. Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during infancy. As the individual ages, other features such as short stature, food seeking with excessive weight gain, developmental delay, cognitive disability and behavioral problems become evident. The phenotype is likely due to hypothalamic dysfunction, which is responsible for hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities including growth hormone and thyroid-stimulating hormone deficiencies, hypogonadism and central adrenal insufficiency. Obesity and its complications are the major causes of morbidity and mortality in PWS. METHODS: An extensive review of the literature was performed and interpreted within the context of clinical practice and frequently asked questions from referring physicians and families to include the current status of the cause and diagnosis of the clinical, genetics and endocrine findings in PWS. CONCLUSIONS: Updated information regarding the early diagnosis and management of individuals with Prader-Willi syndrome is important for all physicians and will be helpful in anticipating and managing or modifying complications associated with this rare obesity-related disorder.
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Síndrome de Prader-Willi , Humanos , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/metabolismo , Síndrome de Prader-Willi/fisiopatologíaRESUMEN
OBJECTIVE: During clinical practice, it can be challenging, given the lack of response biomarkers, to identify the patients with metastatic breast cancer (mbca) who would benefit most from the addition of bevacizumab to first-line standard chemotherapy. The aim of the present review was to summarize the relevant scientific evidence and to discuss the experience of a group of experts in using bevacizumab to treat mbca. METHODS: A panel of 17 Spanish oncology experts met to discuss the literature and their experience in the use of bevacizumab as first-line treatment for mbca. During the meeting, discussions focused on three main issues: the profile of the patients who could benefit most from bevacizumab, the optimal bevacizumab treatment duration, and the safety profile of bevacizumab. RESULTS: The subset of mbca patients who would benefit the most from the addition of bevacizumab to first-line standard chemotherapy are those with clinically defined aggressive disease. Treatment with bevacizumab should be maintained until disease progression or the appearance of unacceptable toxicity. In the mbca setting, the toxicity profile of bevacizumab is well known and can be managed in clinical practice after adequate training. CONCLUSIONS: This expert group recommends administering bevacizumab as first-line treatment in patients with clinically aggressive disease.
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The ZNF217 gene, a potential oncogene amplified and overexpressed in several cancers including colorectal cancer (CRC), acts as a transcription factor that activates or represses target genes. The polymorphisms rs16998248 (T>A) and rs35720349 (C>T) in coronary artery disease have been associated with reduced expression of ZNF217. In this study, we analyzed the 2 polymorphisms in Mexican patients with CRC. Genotyping of rs16998248 and rs35720349 sites was performed by polymerase chain reaction-restriction fragment length polymorphism in 203 Mexican Mestizos, 101 CRC patients, and 102 healthy blood donors. Although no statistical differences regarding genotype and allele frequencies of ZNF217 polymorphisms were observed (P > 0.05), linkage disequilibrium was significant in CRC patients (r(2) = 0.39, P < 0.0001), as a result of reduced AC haplotype frequency. Thus, the AC haplotype may protect against CRC.
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Carcinogénesis/genética , Neoplasias Colorrectales/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Transactivadores/genética , Estudios de Casos y Controles , Frecuencia de los Genes/genética , Humanos , MéxicoRESUMEN
We investigated whether the MDR1 C3435T polymorphism is associated with fibrocystic changes (FCC), infiltrating ductal breast cancer (IDBC), and/or clinical-pathological features of IDBC in Mexican patients. Samples from women who received surgical treatment in 2007 at the Centro Médico de Occidente (México) were included in the analysis. Genotyping was performed by polymerase chain reaction-restricted fragment length polymorphisms in 64 paraffin-embedded breast samples with IDBC, 64 samples with FCC, and 183 peripheral blood samples of healthy females designated as the healthy group (HG). The frequency of the T allele was 41, 45, and 52% for the FCC, IDBC, and HG samples, respectively. Significant differences were only found between the FCC and HG samples [odds ratio (OR) = 0.64, 95% confidence interval (CI) = 0.43-0.96; P = 0.032]. The prevalence of the T/T genotype was 8, 13, and 24% for FCC, IDBC, and HG samples, respectively. Again, statistical differences were only found between FCC and HG samples for the T/T genotype (OR = 0.28, 95%CI = 0.106-0.77; P = 0.009). Although the T allele and the T/T genotype were less frequent in the IDBC group than in the HG, the differences were not significant. Furthermore, no associations were found between the C3435T polymorphism and clinical-pathological features of the IDBC group. Both the FCC and IDBC groups had a high frequency of the C allele relative to the HG in this sample of women from Western Mexico.