Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
1.
J Org Chem ; 88(1): 49-59, 2023 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-36480791

RESUMEN

The dimeric steroid SMR-3, featuring a 1,4-phenyldiboronic ester flanked by two pregnan-triol frameworks, was synthesized to explore the intramolecular dynamics of its central component. The structural data from single-crystal X-ray diffraction studies and the Hirshfeld analyses indicate small steric effects around the aromatic ring that should favor the intended motion. However, solid-state NMR data obtained through VT 13C{1H} CPMAS and 2H spin-echo experiments, using the deuterated analogue SMR-3D4, revealed that this component is rigid even at temperatures where other reported steroidal molecular rotors experience fast rotation (85 °C). A combination of classical molecular dynamics, molecular mechanics, and correlated ab initio calculations allowed us to distinguish the steric and electronic factors that restrict the potential motion in this compound. The experimental and computational data reveal that electronic components dominate the behavior and are responsible for the high rotational barrier in the SMR-3 crystal.


Asunto(s)
Imagen por Resonancia Magnética , Simulación de Dinámica Molecular , Rotación , Espectroscopía de Resonancia Magnética , Esteroides
2.
J Org Chem ; 85(13): 8501-8509, 2020 07 02.
Artículo en Inglés | MEDLINE | ID: mdl-32475112

RESUMEN

Two diastereomeric crystalline steroid dimers were obtained by acid-catalyzed double acetalization of (20S)-5α-pregnan-3ß,16ß,20-triol 3-monoacetate with terephtalaldehyde. These compounds were characterized by NMR in solution, MS, single-crystal X-ray diffraction, and variable-temperature solid-state NMR by 13C cross-polarization magic angle spinning (CPMAS). While the phenylene rotator in the SR diastereomer remains static even at 373 K, the RR isomer shows a slow rotational process of the phenylene ring at temperatures above room temperature and thus may be considered the first crystalline steroid molecular rotor without the alkyne axle.

3.
Org Lett ; 22(9): 3412-3417, 2020 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-32286836

RESUMEN

An intramolecular, gold-catalyzed alkyne hydroarylation results in the formation of the core pyrroloazepinone framework of the hymenin group of oroidin alkaloids. Elaboration of the cyclic adduct via C2-azidation, bromination of the pyrrole, and deprotection set the stage for global reduction with Mo(CO)6 resulting in the formation 2-debromohymenin.


Asunto(s)
Alquinos/química , Hidrocarburos Bromados/síntesis química , Sesquiterpenos/síntesis química , Azepinas/síntesis química , Azepinas/química , Monóxido de Carbono/química , Catálisis , Técnicas de Química Sintética/métodos , Ciclización , Oro/química , Hidrocarburos Bromados/química , Molibdeno/química , Pirroles/síntesis química , Pirroles/química , Sesquiterpenos/química
4.
Odovtos (En línea) ; 21(3): 119-126, Sep.-Dec. 2019. graf
Artículo en Inglés | LILACS, BBO - Odontología | ID: biblio-1091498

RESUMEN

ABSTRACT Introduction: Space maintainers play an important role in orthodontic treatments involving premolar extractions, especially in cases with bad occlusion and marked crowding. The orthodontist must know several options of anchoring and choose the best method that would fulfill the treatment objectives for that patient. Objective: To compare the effects of maximum anchors like the double transpalatal arch (double ATP) and the transpalatal arch and Nance button combination (transpalanance) as space maintainers during cuspids retraction in patients undergoing upper bicuspid extractions. Methods: A universe of 100 patients, aged 14-25 years, was selected from among the patients presenting to the Orthodontics Specialty Clinic of the posgraduate School Dr. José Apolo Pineda, Pilot School of Dentistry, University of Guayaquil during the years of 2017 and 2018. Totally, 26 patients were recruited, of whom 13 were placed on transpalanance and the other 13 on double ATP, prior to the extraction of their first upper bicuspid. Post-extraction spaces were measured and compared with post-retraction spaces of upper cuspids. Results: With an average of 4-5 mm, transpalanance maintained the greatest amount of space at the end of canine retraction. It is expected that the results obtained in this study will be useful to orthodontists, providing them with information regarding the most effective space maintainers for treatments with extractions. Conclusion: The maximum anchor that showed the greatest efficacy was transpalanance since it maintained a greater amount of space during its time of use.


RESUMEN Los mantenedores de espacio desempeñan un papel importante en los tratamientos de ortodoncia que incluyen extracciones premolares, especialmente en casos de oclusión grave y aglomeración marcada. El ortodoncista debe conocer varias opciones de anclaje y elegir el mejor método que cumpla con los objetivos de tratamiento para ese paciente. Objetivo: comparar los efectos de los anclajes máximos como el arco transpalatino doble (ATP doble) y el arco transpalatino y la combinación del botón de Nance (transpalanance) como mantenedores de espacio durante la retracción de los cúspides en pacientes sometidos a extracciones de premolares superiores. Métodos: Se seleccionó un universo de 100 pacientes, de 14 a 25 años, entre los pacientes que acudieron a la Clínica de Ortodoncia de la Escuela de Posgrado de la Facultad Piloto de Odontología, Universidad de Guayaquil durante los años de 2017 y 2018. En total, se reclutaron 26 pacientes, de los cuales 13 fueron colocados en transpalanance y los otros 13 en doble ATP, antes de la extracción de su primer premolar superior. Los espacios posteriores a la extracción se midieron y compararon con los espacios posteriores a la retracción de los caninos superiores. Resultados: Con un promedio de 4 a 5 mm, el transpalanance mantuvo la mayor cantidad de espacio al final de la retracción de caninos. Se espera que los resultados obtenidos en este estudio sean útiles para los ortodoncistas, proporcionándoles información sobre los mantenedores de espacio más efectivos para los tratamientos con extracciones. Conclusión: el ancla máxima que mostró la mayor eficacia fue la transpalanidad, ya que mantuvo una mayor cantidad de espacio durante su tiempo de uso.


Asunto(s)
Humanos , Adolescente , Adulto , Aparatos Ortodóncicos Removibles , Aparatos Activadores/tendencias , Métodos de Anclaje en Ortodoncia , Colombia
5.
Orphanet J Rare Dis ; 14(1): 164, 2019 07 05.
Artículo en Inglés | MEDLINE | ID: mdl-31277718

RESUMEN

BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). RESULTS: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. CONCLUSIONS: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.


Asunto(s)
Discapacidad Intelectual/genética , Aberraciones Cromosómicas , Hibridación Genómica Comparativa , Variaciones en el Número de Copia de ADN/genética , Femenino , Estudios de Asociación Genética , Genómica , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Masculino , Linaje , Fenotipo
6.
Front Genet ; 10: 58, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30853971

RESUMEN

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.

7.
Contemp Clin Dent ; 9(3): 474-477, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30166847

RESUMEN

The skeletal Class II occurs when there is a marked discrepancy in the position and relationship between the maxilla and the jaw, resulting in patients with labial incompetence, convex profile and an Angle Class II malocclusion, to the consultation there is a female patient of 12 years of age presenting these characteristics, in addition to a marked proclination of incisors, and clicking when opening the mouth. The objective of this case report was to improve the profile of the patient, get Class I molar and canine, correct the incompetence labial, and improve dental occlusion. The treatment plan included dental extraction of the upper and lower first premolars, accompanied by retraction of canines and upper anteroposterior segment. Thanks to the application of the ROTH technique through the use of elastic chains and retraction arches, the initial objective was achieved, improving the esthetics and function of the facial structures.

8.
Neurogenetics ; 19(1): 27-40, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29260337

RESUMEN

Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition. One family presents a small duplication in cis affecting CALD1 and AGBL3 genes, while the other four patients carry two larger deletions encompassing EXOC4, CALD1, AGBL3, and CNOT4. This work helps to refine the phenotype and narrow the minimal critical region involved in 7q33 CNVs. Comparison with similar cases and functional studies should help us clarify the relevance of the deleted genes for ID and behavioral alterations.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 7/genética , Variaciones en el Número de Copia de ADN , Discapacidad Intelectual/genética , Adulto , Niño , Femenino , Humanos , Masculino , Fenotipo , Hermanos , Adulto Joven
9.
J Clin Pathol ; 71(2): 180-184, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29021147

RESUMEN

One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene-first JAK2V617F on exon 14, present in 95%-97% of the cases, and later on exon 12. In the literature, we can find some reported studies where different exon 12 mutations are identified. Unlike patients with JAK2V617F mutation in exon 14, the mutation at exon 12 is not usually associated with an increase in the three haematopoietic series (erythrocytosis, leucocytosis and thrombocytosis). It appears to be associated with a distinct syndrome, mostly characterised by isolated and more marked erythrocytosis, independently of the mutational variant. We report here the case of a patient who is JAK2exon 12 positive, presenting a novel mutation-c.1605G>T (p.Met535Ile)-associated with c.1612C>T (p.His538Tyr) mutation previously described, evidencing an atypical clinical phenotype.


Asunto(s)
Janus Quinasa 2/genética , Mutación Puntual , Policitemia Vera/diagnóstico , Policitemia Vera/genética , Femenino , Marcadores Genéticos , Humanos , Persona de Mediana Edad , Fenotipo
10.
Odovtos (En línea) ; 19(2)ago. 2017.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1506901

RESUMEN

a maloclusión clase III es una de las más complejas de tratar para el profesional de la salud, ya que presenta alteraciones en el componente esquelético y dentario de los pacientes. Caso Clínico: paciente de sexo masculino, de 17 años de edad, presentaba una maloclusión clase III esqueletal, con prognatismo del maxilar inferior, una asimetría facial, además un perfil ligeramente cóncavo, mordida cruzada anterior y posterior izquierda. Mediante cirugía ortognática, utilizando la técnica de osteotomía sagital de rama mandibular y segmentación del maxilar superior, Le Fort I, se corrige la maloclusión, acompañado de la técnica Alexander de Ortodoncia. Conclusión: la correcta aplicación de los conocimientos en el campo de la Ortodoncia y la Cirugía Maxilofacial permite al paciente convertirse en clase II esqueletal al análisis cefalométrico, su perfil cambia a ligeramente convexo y se alcanza clase I canina en ambos lados.


lass III malocclusion is one of the most complex to treat for healthcare because it presents alterations in skeletal and dental component of patients. Case Report: male patient, 17 years old, had a skeletal Class III malocclusion with mandibular prognathism, facial asymmetry, plus a slightly concave profile, crossbite and posterior left. By orthognathic surgery, using the technique of sagittal ramus osteotomy and segmentation maxillary, Le Fort I, malocclusion, accompanied by the Alexander technique Orthodontics is corrected. Conclusion: the correct application of knowledge in the field of Orthodontics and Maxillofacial Surgery allows patients to become skeletal class II to cephalometric analysis, changes to your profile slightly convex and canine class I is reached on both sides.

11.
Rev. odontol. mex ; 21(2): 103-108, abr.-jun. 2017. tab, graf
Artículo en Español | LILACS | ID: biblio-902725

RESUMEN

La diabetes mellitus es considerada, hoy en día, como una de las enfermedades crónicas más frecuentes; por ello, es importante conocer cuáles son sus alteraciones más relevantes a nivel bucal. El paciente diabético representa a una persona con cambios generales de salud, con complicaciones tempranas o tardías propias de su estado sistémico, con referencia a su conducta local, es posible encontrar pacientes con pobre higiene bucal, caries, enfermedad periodontal, infecciones tales como: candidiasis, herpes, y aftas, tendencia al sangrado postquirúrgico y pobre respuesta cicatrizal, entre otras afecciones infecciosas o inflamatorias. Por lo tanto obliga a implementar cambios de modalidad terapéutica dental convencional, así como observar restricciones y consideraciones del manejo odontológico de estos individuos por las complicaciones que conlleva. En esta investigación se plantea estudiar cada una de las complicaciones bucodentales con los distintos signos y síntomas que presentan los pacientes diabéticos, con la propuesta de un manual de procedimientos odontológicos para el manejo de las mismas. La metodología es de consulta mediante encuestas a 100 pacientes del Club de Diabéticos del Hospital del Día «Dr. Efrén Jurado López¼ perteneciente al Seguro Social y el Dispensario N° 10 del Ministerio de Salud Pública, ambos ubicados en Guayaquil a los cuales se les aplicará un cuestionario de preguntas con la finalidad de determinar el conocimiento que tienen los mismos, en el ámbito de nuestra zona básica de salud, referente a la repercusión de la enfermedad en la salud bucodental, y el riesgo que supone someterse a la atención dental, cuando la misma no está controlada. De igual forma se aplicarán las encuestas a odontólogos para saber si aplican el protocolo de atención para pacientes diabéticos debido a que son de alto riesgo. Con los resultados esperados se diseñará un manual de atención odontológica para mejorar los tratamientos bucos orales al paciente diabético y sus enfermedades concomitantes que conlleven a mejorar su calidad de vida.


Diabetes mellitus is presently considered one of the most frequent diseases, therefore, it is important to know the most relevant alterations in the mouth caused by it. Diabetic patients are subjects afflicted with general health changes, with early or late complications characteristic of their systemic circumstances. With respect to local behaviour of the disease, it is possible to encounter patients with poor oral hygiene, caries, periodontal disease, infections such as candidiasis, herpes and canker sores, tendency to postsurgical bleeding, and poor healing response among other infectious or inflammatory diseases. Therefore, changes in conventional dental therapy modes are needed, as well as study of restrictions and considerations of dental treatment of these patients due to their inherent complications. The aim of the present research project was to study every oral/dental complications with different signs and symptoms exhibited by diabetic patients, as well as to propose a manual of dental procedures to undertake treatment. Consultation methodology was implemented by means of a survey conducted on 100 patients from the Diabetics Club of the «Dr. Efrén Jurado López¼ Day Hospital (Social Security) and the number 10 Dispensary of the Public Health Ministry. Both institutions were located in Guayaquil. Participating subjects were presented with a questionnaire in order to determine the knowledge they possessed on repercussions the disease might exert on their oral health, within the frame of our basic health zone, as well as risks encountered when receiving dental care in a state of uncontrolled disease. Likewise, surveys will be used with dentists in order to ascertain whether they apply care protocol for diabetic patients, since they are considered high-risk patients. With expected results, a dental treatment manual will be designed in order to improve oral and dental treatment for diabetic patients and concomitant diseases, so as to improve patient's quality of life.

12.
Contemp Clin Dent ; 8(4): 658-661, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29326524

RESUMEN

Orthodontic camouflage provides an alternative treatment for angle III malocclusion since patients with limited economic resources cannot opt for orthognathic surgery, it being clear that correction will be achieved at the dental level and not at the bone complex. OBJECTIVE: To determine an alternative treatment for patients who do not have the possibility of having orthognathic surgery. CLINICAL CASE: A 13-year-old female patient, dolico facial biotype with slightly concave profile, with Class III Skeletal by mandibular prognathism, anterior crossbite, anterior diastema, and large mandibular body, molar class, and canine III. Alexander technique brackets were placed; premolar extraction was not planned. Once the case was completed, the correction of the anterior crossbite was achieved, thanks to the use of the spaces that existed at the beginning of the treatment and also that a correct distalization of canines and retraction of the lower anterior segment were performed.

13.
Actas odontol ; 13(2): 56-62, dic. 2106. ilus
Artículo en Español | LILACS | ID: biblio-834225

RESUMEN

La clase II esqueletal representa uno de los grandes desafíos a tratar por parte del Ortodoncista. Ésta se presenta cuando existe una discrepancia entre el maxilar y mandíbula, es decir puede haber un crecimiento excesivo del maxilar superior acompañado de una retrusión de la mandíbula. Esto provoca alteraciones tanto esqueléticas como dentarias, presentando apiñamientos, incompetencia labial o perfil convexo, pudiendo ser el tratamiento estrictamente ortodóntico o en ciertos casos requerir de cirugías máxilo faciales. El objetivo de esta investigación fue mejorar el perfil del paciente, conseguir Clase I molar y canina, corregir la incompetencia labial y mejorar la oclusión dental. El plan de tratamiento incluyó la extracción dental de primeros premolares superiores e inferiores y gracias a la aplicación de la técnica ROTH mediante el uso de cadenas elásticas y arcos de retracción se pudo cumplir el objetivo inicial, mejorando la estética y la función de las estructuras dento faciales.


Class II skeletal is one of the major challenges to be treated by the orthodontist. This occurs when there is a discrepancy between the maxilla and mandible, ie may have an overgrowth of the maxilla accompanied by a retrusion of the mandible. This causes both skeletal and dental alterations, presenting crowding, labial incompetence or convex profile and may be strictly orthodontic treatment or in certain cases require maxillo facial surgeries. The objective of this research was to improve the patient's profile, achieving Class I molar and canine, correct lip incompetence and improve occlusion. The treatment plan included tooth extraction first upper and lower premolars and thanks to the implementation of the ROTH technique using elastic chains and arches retraction could meet the initial objective,improving the aesthetics and function of the dento structures facial.


Asunto(s)
Humanos , Femenino , Niño , Maloclusión Clase II de Angle/terapia , Ortodoncia Correctiva/instrumentación , Ortodoncia Correctiva/métodos , Diente Premolar/patología , Mandíbula/patología , Maxilar/patología , Extracción Dental
14.
J Med Genet ; 53(2): 73-90, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26502893

RESUMEN

Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the art on recurrent CNVs associated with NDs, namely ASD, ID, epilepsy and SZ; (2) discuss the models used to dissect the underlying neurobiology of disease, (3) discuss how this knowledge can be used in clinical practice.


Asunto(s)
Variaciones en el Número de Copia de ADN , Asesoramiento Genético , Trastornos del Neurodesarrollo/genética , Diagnóstico Prenatal , Animales , Trastorno del Espectro Autista/genética , Modelos Animales de Enfermedad , Epilepsia/genética , Femenino , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Células Madre Pluripotentes Inducidas/fisiología , Trastornos del Neurodesarrollo/diagnóstico , Embarazo , Factores de Riesgo , Esquizofrenia/genética
15.
Oncol Rep ; 29(2): 741-50, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23229016

RESUMEN

Despite the success of imatinib mesylate (IM) in the treatment of chronic myeloid leukemia (CML), approximately 30% of patients are resistant to therapy, mostly due to unknown causes. To profile the expression signatures of drug transporters throughout IM therapy and correlate them with resistance, we quantified mRNA expression levels of the SLC22A12, ABCB1, ABCC1, ABCG2 and MVP genes in consecutive samples from peripheral blood or bone marrow of CML patients who were either responsive or resistant to IM. Additionally we identified and quantified BCR-ABL1 transcript variants and analyzed 1236T>C ABCB1 and 480G>C SLC22A1 polymorphisms. A relationship between the type of BCR-ABL1 transcript or ABCB1 or SLC22A1 genotype and response to treatment was not discovered. However, the studied genes had higher expression levels in follow-up compared to the diagnostic samples, demonstrating a possible induction in expression. IM-sensitive patients presented significantly higher values of SLC22A1 expression, suggesting higher drug influx. Most importantly, while responding patients demonstrated stable expression signatures in consecutive samples, there was considerable variation in IM-resistant patients, indicating that single point sampling expression signatures are not reliable in predicting clinical outcomes or prognostic features in these patients. Studies that assessed consecutive samples from CML patients in order to evaluate the variation in expression levels of transporter genes are limited yet our study emphasizes the importance of such approaches.


Asunto(s)
Antineoplásicos/uso terapéutico , Benzamidas/uso terapéutico , Resistencia a Antineoplásicos/genética , Proteínas de Fusión bcr-abl/genética , Expresión Génica , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , ARN Mensajero/metabolismo , Subfamilia B de Transportador de Casetes de Unión a ATP , Miembro 1 de la Subfamilia B de Casetes de Unión a ATP/genética , Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 2 , Transportadoras de Casetes de Unión a ATP/genética , Adulto , Anciano , Antineoplásicos/farmacología , Benzamidas/farmacología , Análisis Mutacional de ADN , Femenino , Expresión Génica/efectos de los fármacos , Perfilación de la Expresión Génica , Genotipo , Humanos , Mesilato de Imatinib , Leucemia Mielógena Crónica BCR-ABL Positiva/metabolismo , Masculino , Persona de Mediana Edad , Proteínas Asociadas a Resistencia a Múltiples Medicamentos/genética , Proteínas de Neoplasias/genética , Transportadores de Anión Orgánico/genética , Proteínas de Transporte de Catión Orgánico/genética , Piperazinas/farmacología , Polimorfismo Genético , Pirimidinas/farmacología , Estadísticas no Paramétricas , Partículas Ribonucleoproteicas en Bóveda/genética , Adulto Joven
16.
Leuk Lymphoma ; 53(10): 2004-14, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22475343

RESUMEN

Resistance to imatinib in patients with chronic myeloid leukemia can lead to advanced disease and blast crisis. Conventional chemotherapy with DNA damaging agents is then used, alone or in combination with other tyrosine kinase inhibitors (TKIs). Our aim was to assess whether imatinib resistant K562 cells were also resistant to DNA damaging agents. After treatment with H(2)O(2) and doxorubicin, but not camptothecin, cell survival was higher in imatinib resistant cells compared to parental cells. DNA damage, measured by comet and γ-H2AX assays, was lower in imatinib resistant cells. mRNA expression levels of 50 genes of the DNA damage response pathway showed increased expression of the base excision repair (BER) genes MBD4 and NTHL1. Knockdown of MBD4 and NTHL1 expression in resistant cells using siRNA decreased cell survival after treatment with H(2)O(2) and doxorubicin. Our results indicate that imatinib resistant cells display cross-resistance to oxidative agents, partly through up-regulation of BER genes. Expression of these genes in imatinib resistant patients was not significantly different compared to sensitive patients. However, the strategy followed in this study could help identify chemotherapeutic agents that are more effective as alternative agents in cases of resistance to TKIs.


Asunto(s)
Antineoplásicos/farmacología , Daño del ADN , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/metabolismo , Piperazinas/farmacología , Inhibidores de Proteínas Quinasas/farmacología , Pirimidinas/farmacología , Benzamidas , Supervivencia Celular/efectos de los fármacos , Supervivencia Celular/genética , Daño del ADN/efectos de los fármacos , Daño del ADN/genética , Desoxirribonucleasa (Dímero de Pirimidina)/genética , Resistencia a Antineoplásicos/genética , Endodesoxirribonucleasas/genética , Regulación Leucémica de la Expresión Génica/efectos de los fármacos , Silenciador del Gen , Humanos , Peróxido de Hidrógeno/farmacología , Mesilato de Imatinib , Células K562 , Oxidantes/farmacología
17.
Dermatol Online J ; 17(4): 1, 2011 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-21549076

RESUMEN

A 13-year-old boy, born prematurely and hypotonic, from non-consanguineous healthy parents, was referred to our department because of easy bruising. A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu valgum, flat feet, elongated upper limbs, and low muscle tone were all evident. A history of learning disability and bilateral inguinal hernia was present. Blood and imaging studies were unremarkable. A skin biopsy disclosed an unremarkable dermis; electron microscopy showed abnormalities in the diameter, contour, and shape of collagen fibrils/fibers. Genetic analysis revealed heterozygosity for a novel mutation in COL3A1 gene (c.3527G>A), confirming the diagnosis of vascular Ehlers-Danlos syndrome (VEDS). The patient died at 15 years of age because of aortic dissection. Vascular Ehlers-Danlos syndrome is a rare, life-threatening, autosomal dominant variant of EDS, resulting from mutations in COL3A1 gene. Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures. Delay in diagnosis is common, even when the clinical presentation is typical. Therefore, dermatologists should be familiar with VEDS features because the skin findings may be the first signs. Early diagnosis will improve management of visceral complications and allow early genetic counseling.


Asunto(s)
Aneurisma de la Aorta/etiología , Colágeno Tipo III/genética , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/genética , Adolescente , Aneurisma de la Aorta/genética , Biopsia , Síndrome de Ehlers-Danlos/diagnóstico , Resultado Fatal , Heterocigoto , Humanos , Masculino , Mutación Puntual
18.
Rev. peru. epidemiol ; 15(1): 1-4, abr. 2011. tab
Artículo en Español | LIPECS | ID: biblio-1111644

RESUMEN

Objetivos: Determinar el efecto de la administración de albendazol sobre los niveles de hemoglobina de niños entre 8 y12 años con enterobiasis intestinal. Métodos: Realizamos un estudio de cuasiexperimental. La población estudiada provino de la jurisdicción El Milagro-Ventanas, distrito de Sanagorán, provincia de Sánchez Carrión, departamento de La Libertad, Perú; entre los meses de noviembre de 2009 a abril de 2010. Se incluyeron a todos los niños con diagnóstico definitivo de enterobiasis intestinal por test de Graham. Se realizó la toma de hemoglobina basal y posteriormente se administró albendazol 400mg en dos dosis separadas por 15 días. Seis meses después se realizó un nuevo dosaje de hemoglobina. Resultados: Se incluyeron un total de 30 niños. En la primera medición de hemoglobina el 26.7% tenía una hemoglobina mayor de 11g/dL y el promedio fue de 10.1±1.1. Posterior al tratamiento, el 53% tuvo hemoglobina mayor de 11g/dL, con un promedio de 11±1.0 g/dL, existiendo aumento significativo de los valores de hemoglobina (p<0.001). No se observó efectos adversos al medicamento. Conclusión: La administración oral de albendazol, aumentó aproximadamente 1g/dL el nivel de hemoglobina en la población estudiada a los seis meses post tratamiento, por lo que podría ser beneficiosa la desparasitación masiva, de rutina, con el fin de disminuir la prevalencia de anemia en poblaciones con extrema pobreza de nuestro país.


Objectives: To determine the effect of a Albendazole in hemoglobin levels in children between 8-12 years with intestinal enterobiasis. Methods: We conducted an intervention study with a before and after design. Population was from The Milagro-Ventanas Jurisdiction, Sanagorán District, Sánchez Carrión Province, La Libertad Department, Perú between November of 2009 to April 2010. We included all children with a definitive diagnosis of intestinal enterobiasis by Graham test. After the first sample of hemoglobin was taken, albendazole 400mg was administered in two divided doses for 15 days. Six months later we performed a new sample of hemoglobin. Results: Thirty childs were included in this study. In the first sample of hemoglobin the 26.7% had 11g/dL and the average was 10.1±1.1. After treatment 53% had hemoglobin levels greater than 11g/dL, with an average of 11 ± 1.0g/dL, and there was a significant increase in hemoglobin (p <0.001). There was no adverse drug effects. Conclusions: Oral administration of albendazole increased approximately 1g/dL hemoglobin level in the study population at six months post treatment, which could be beneficial mass deworming routine in order to decrease the prevalence of anemia in populations with extreme poverty in our country.


Asunto(s)
Masculino , Femenino , Humanos , Niño , Albendazol/administración & dosificación , Enterobiasis , Hemoglobinas , Perú
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...