Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 162
Filtrar
1.
Nanoscale Adv ; 5(9): 2508-2516, 2023 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-37143794

RESUMEN

Metal halide perovskites represent an intriguing class of materials, and a very promising approach to tune the properties of optoelectronic devices and improve their performance involves the implementation of architectures based on mixed 3D and 2D perovskites. In this work, we investigated the use of a corrugated 2D Dion-Jacobson perovskite as an additive to a classical 3D MAPbBr3 perovskite for applications in light-emitting diodes. Taking advantage of the properties of this emerging class of materials, we studied the effect of a 2D 2-(dimethylamino)ethylamine (DMEN)-based perovskite on the morphological, photophysical, and optoelectronic properties of 3D perovskite thin films. We used α-DMEN perovskite both in a mixture with MAPbBr3 creating mixed 2D/3D phases and as a passivating thin layer deposited on the top of a 3D perovskite polycrystalline film. We observed a beneficial modulation of the thin film surface, a blue shift in the emission spectrum, and enhanced device performance.

3.
Sci Adv ; 5(5): eaav9967, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31172027

RESUMEN

Polaritonic devices exploit the coherent coupling between excitonic and photonic degrees of freedom to perform highly nonlinear operations with low input powers. Most of the current results exploit excitons in epitaxially grown quantum wells and require low-temperature operation, while viable alternatives have yet to be found at room temperature. We show that large single-crystal flakes of two-dimensional layered perovskite are able to sustain strong polariton nonlinearities at room temperature without the need to be embedded in an optical cavity formed by highly reflecting mirrors. In particular, exciton-exciton interaction energies are shown to be spin dependent, remarkably similar to the ones known for inorganic quantum wells at cryogenic temperatures, and more than one order of magnitude larger than alternative room temperature polariton devices reported so far. Because of their easy fabrication, large dipolar oscillator strengths, and strong nonlinearities, these materials pave the way for realization of polariton devices at room temperature.

4.
Pathologica ; 110(1): 75-77, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30259915

RESUMEN

The first case of severe drug-induced gastrointestinal injury related to levodopa is described. The 86-year-old patient experienced acute colitis temporally related to the intake of the drug with complete resolution of symptoms on levodopa withdrawal. Awareness of the possibility of a levodopa-related damage on colon biopsies performed for acute colitis is of paramount importance for pathologists. However, in order to exclude or confirm a drug-related damage an effective communications between clinicians and pathologists is always required.


Asunto(s)
Antiparkinsonianos/efectos adversos , Colitis/diagnóstico , Levodopa/efectos adversos , Trastornos Parkinsonianos/tratamiento farmacológico , Enfermedad Aguda , Anciano de 80 o más Años , Antiparkinsonianos/administración & dosificación , Colitis/inducido químicamente , Colitis/patología , Colon/patología , Colonoscopía , Humanos , Levodopa/administración & dosificación , Masculino , Resultado del Tratamiento
5.
RSC Adv ; 8(36): 20259-20262, 2018 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-35695830

RESUMEN

The authors reply to the comment by R. P. Steer discussing the reasons for their incorrect assignment of the luminescence decay of the novel compound 5,10,15-(triphenyl),20-[ethynyl-(4-carboxy)phenyl]tetrabenzoporphyrinate Zn(ii) (PETBP). Further DFT and TDDFT calculations have been performed on the compound to investigate the possibility of a direct S2-S0 decay instead of a S2-S1 conversion with a subsequent emission to the ground state. In addition, the presence of traces of very luminescent contaminants of the ring-opened type has been considered on the grounds of calculated absorption and fluorescence spectra. The results of these investigations confirm that the S2-S0 emission reported in the commented paper is not attributable to the target molecule but rather to a neglected luminescent impurity.

6.
Pathologica ; 109(2): 97-109, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28748968

RESUMEN

The goals of this short narrative review are 1) to provide an update in recent developments in the field of drug-induced gastrointestinal injury (DIGI), and 2) to distill few key points to approach with confidence a difficult and vast area of gastrointestinal pathology. DIGI is a challenging diagnosis as it can produce almost any pattern of the injury of the gastrointestinal tract. The recognition of a pattern and the knowledge of which drugs can produce that pattern, are the first step of the diagnostic process; communication with the clinical team and a high level of suspicion are then paramount. The pathologist can be the leading clinicians of the care team in few situations in which she/he can recognize the drug at the microscope. Knowledge of the most relevant differential diagnoses of DIGI is essential to avoid significant pitfalls. Finally, several DIGIs due to recently developed immunomodulators used in oncology have shown relevance given their sometimes fatal outcome and the accumulating evidence of a common morphological appearance among them.


Asunto(s)
Enfermedades Gastrointestinales/inducido químicamente , Tracto Gastrointestinal/efectos de los fármacos , Diagnóstico Diferencial , Humanos
8.
Oral Dis ; 23(4): 471-476, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28028908

RESUMEN

BACKGROUND: The amalgam-associated oral lichenoid lesion (AAOLL) shows clinical and histopathological features similar to oral lichen planus (OLP). Molecular researches to improve knowledge of pathogenesis and clinical behavior of AAOLL are still scarce. OBJECTIVE: We investigated for the first time the use of loss of heterozygosity (LOH) as a molecular approach for genetic characterization of AAOLL in comparison with OLP and evaluated the cell proliferation index. MATERIALS AND METHODS: The sample comprised nine AAOLLs, 10 OLPs, and eight NOMs matched by patients' gender and age. LOH was assessed using polymorphic microsatellite markers at chromosomes 9p (D9S157, D9S162, D9S171), 11q (D11S1369), and 17p (TP53, AFM238WF2). Cell proliferation was assessed by immunohistochemical expression of Ki-67 (MIB-1). The association between LOH and Ki-67 was investigated. RESULTS: Loss of heterozygosity occurred in 5/9 AAOLLs and in 2/10 OLPs in at least one marker each, while NOM showed no LOH. Cell proliferation index in AAOLL ranged from 2 to 23%. There was no association between cell proliferation and LOH, independent of the marker. CONCLUSION: Our study shows that the profile of molecular changes in AAOLL and OLP, evaluated by LOH and Ki-67 expression, is similar. Additional studies including larger samples should be performed to confirm or to refute our findings.


Asunto(s)
Amalgama Dental/efectos adversos , Erupciones Liquenoides/etiología , Pérdida de Heterocigocidad , Enfermedades de la Boca/etiología , Mucosa Bucal/fisiopatología , Adulto , Anciano , Estudios de Casos y Controles , Proliferación Celular , Femenino , Humanos , Inmunohistoquímica , Antígeno Ki-67/metabolismo , Liquen Plano Oral/genética , Liquen Plano Oral/fisiopatología , Erupciones Liquenoides/genética , Erupciones Liquenoides/fisiopatología , Masculino , Repeticiones de Microsatélite , Persona de Mediana Edad , Enfermedades de la Boca/genética , Enfermedades de la Boca/fisiopatología , Polimorfismo Genético
9.
Transbound Emerg Dis ; 62(3): 229-32, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25773737

RESUMEN

In this work, we identified for the first time hepatitis E virus (HEV) in a pet house rabbit, an adult 7 years old female of domestic rabbit (Oryctolagus cuniculus). Importantly, the resulting phylogenetic tree showed that the HEV strain identified in the pet house rabbit was closely related to a human HEV sequence; this finding reawakens concerns regarding the zoonotic risk represented by HEV in animals and expands to house rabbit the spectrum of potential source of infection for humans. Potential for domestic transmission of HEV to humans should be taken into account.


Asunto(s)
Animales Domésticos/virología , Virus de la Hepatitis E/aislamiento & purificación , Hepatitis E/veterinaria , Conejos , Zoonosis/virología , Animales , Secuencia de Bases , Vectores de Enfermedades , Femenino , Hepatitis E/transmisión , Hepatitis E/virología , Virus de la Hepatitis E/clasificación , Virus de la Hepatitis E/genética , Humanos , Italia , Filogenia , Zoonosis/transmisión
10.
Chem Commun (Camb) ; 50(67): 9451-3, 2014 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-24951137

RESUMEN

Novel co-sensitizers have been structurally tailored and implemented in multi-sensitized devices demonstrating synergic efficiency enhancement attributable to improved light-harvesting as well as prevention of charge recombination.


Asunto(s)
Colorantes/química , Suministros de Energía Eléctrica , Ingeniería , Energía Solar , Transporte de Electrón
11.
ACS Appl Mater Interfaces ; 6(9): 6425-33, 2014 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-24694230

RESUMEN

We implemented a low-temperature approach to fabricate efficient photoanodes for dye-sensitized solar cells, which combines three different nanoarchitectures, namely, a highly conductive and highly transparent AZO film, a thin TiO2-blocking layer, and a mesoporous TiO2 nanorod-based working electrode. All the components were processed at T≤200°C. Both the AZO and the TiO2 blocking layers were deposited by reactive sputtering, whereas the TiO2 nanorods were synthesized by surfactant-assisted wet-chemical routes and processed into photoelectrodes in which the native geometric features assured uniform mesoporous structure with effective nanocrystal interconnectivity suitable to maximize light harvesting and electron diffusion. Because of the optimized structure of the TiO2-blocking/AZO bilayer, and thanks to the good adhesion of the TiO2 nanorods over it, a significant enhancement of the charge recombination resistance was demonstrated, this laying on the basis of the outstanding power conversion efficiency achievable through the use of this photoanode's architecture: a value of 4.6% (N719) was achieved with a 4-µm-thick electrode processed at T=200°C. This value noticeably overcomes the current literature limit got on AZO-based cells (N719), which instead use Nb-doped and thicker blocking layers, and thicker nanostructured photoanodes, which have been even sintered at higher temperatures (450-500°C).

12.
Clin Res Hepatol Gastroenterol ; 35(8-9): 572-9, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21640691

RESUMEN

BACKGROUND & AIMS: Endoscopic submucosal dissection (ESD) was developed for en bloc resection of superficial neoplasm of the digestive tract. We evaluated feasibility and safety of ESD, as a salvage therapy of large refractory rectal polyps, in a tertiary care setting. METHODS: We prospectively enrolled in the present study and treated by ESD 11 consecutive patients with rectal polyps (median diameter 3.5 cm; range 2-5 cm), who had previously undergone several attempts of endoscopic resection and not suitable for further standard endoscopic treatment. The ESD was carried out with a standard needle knife. Follow up examinations were scheduled at 3, 6, 12 and 24 months. RESULTS: We achieved apparently complete resection of polyps in 10/11 patients. In one patient ESD was interrupted and the pathology of the resected fragment showed deep submucosal infiltration; this patient underwent surgery. Deep and lateral margins were shown to be free of neoplasm (radical resection) in six out of 11 patients. However all the 10 patients with apparently complete resection were free of recurrence after a mean follow up of 19.2 months (12-24). A T1 adenocarcinoma was radically resected by ESD, with no recurrence. We recorded 2 cases of subcutaneous emphysema, both treated conservatively. CONCLUSIONS: Radical resection is difficult to be achieved by ESD in patients with rectal scar-embedded polyps. Nevertheless ESD may be proposed as a definitive treatment of selected patients with refractory polyps, avoiding surgery in the majority of them.


Asunto(s)
Cicatriz/complicaciones , Cicatriz/cirugía , Endoscopía Gastrointestinal , Pólipos Intestinales/complicaciones , Pólipos Intestinales/cirugía , Enfermedades del Recto/complicaciones , Enfermedades del Recto/cirugía , Adulto , Anciano , Estudios de Factibilidad , Femenino , Humanos , Mucosa Intestinal/cirugía , Masculino , Persona de Mediana Edad , Estudios Prospectivos
13.
Oral Dis ; 17(6): 564-71, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21332605

RESUMEN

OBJECTIVE: WWOX gene is altered in a variety of neoplasms. Wwox is pro-apoptotic through interaction with p73 and may be involved in chromosomal stability by interaction with p73 and p53. The aims of this study were to characterize WWOX transcription, methylation status and immunoexpression in salivary neoplasms and to determine whether these were associated with p73, p53, cell proliferation and DNA ploidy. MATERIALS AND METHODS: Seven malignant and 21 benign fresh salivary neoplasms were included. WWOX expression was determined by RT-PCR and sequencing of transcripts, quantitative PCR and immunohistochemistry. Methylation-specific PCR was used to assess the methylation of its first exon. For p73, ΔNp73, p53 and ki67 immunohistochemistry and ploidy analysis, 29 malignant samples from archives were included. RESULTS: No consistent pattern of WWOX exon 1 methylation was found, but aberrant and novel transcripts were observed in 17/28 neoplasms; 55% of tumours showed reduced WWOX RNA. WWOX RNA levels were associated with p53 immunopositivity. Immunohistochemical Wwox expression did not correlate with methylation status, p53 or p73 expression or proliferation. p73, proliferation and DNA ploidy were associated with malignant phenotype. CONCLUSION: Aberrant WWOX transcription and decreased expression are frequent in salivary neoplasms and WWOX transcription is associated with p53 staining.


Asunto(s)
Apoptosis/genética , Proteínas de Unión al ADN/genética , ADN/genética , Proteínas Nucleares/genética , Oxidorreductasas/genética , Ploidias , Neoplasias de las Glándulas Salivales/genética , Proteína p53 Supresora de Tumor/genética , Proteínas Supresoras de Tumor/genética , Adolescente , Adulto , Anciano , Aneuploidia , Proliferación Celular , Metilación de ADN/genética , Diploidia , Exones/genética , Femenino , Regulación Neoplásica de la Expresión Génica/genética , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Fenotipo , Reacción en Cadena de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transcripción Genética/genética , Proteína Tumoral p73 , Oxidorreductasa que Contiene Dominios WW , Adulto Joven
14.
Oral Dis ; 17(6): 572-6, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21332606

RESUMEN

BACKGROUND: Fanconi's anemia (FA) is a rare recessive genetic disorder characterized by bone marrow failure, developmental and congenital abnormalities, which frequently evolves to aplastic anemia and neoplasias, primarily acute leukemia and head-neck carcinomas. Risk of malignancies increases after hematopoietic stem cell transplantation (HSCT), and the role of human papillomavirus (HPV) in FA carcinogenesis have been proposed. OBJECTIVE: To investigate prevalence of oral HPV in FA patients without oral malignant lesions. MATERIALS AND METHODS: After oral examination, 76 subjects without detectable oral malignant lesions were included and classified in four groups: 20 FA submitted to HSCT (I), 22 FA not submitted to HSCT (II), 18 severe aplastic anemia (SAA) submitted to HSCT (III) and 16 healthy subjects (IV). Liquid-based cytology sampling, HPV screening by polymerase chain reaction and genotyping by reverse hybridization were performed. RESULTS: The HPV detection rates were: group I 35%, group II 27.3%, group III 38% and group IV 6.25%. Prevalence of high risk HPV types, mainly HPV16, was detected. Compared with control group, suggestions for increased likelihood of being HPV infected in SAA (OR = 9.55, 95% CI: 1.01-125.41) and FA patients submitted to HSCT (OR = 8.08, 0.83-72.29) emerged. CONCLUSION: Patients without oral malignant lesions submitted to HSCT, have high prevalence of oral HPV. HPV screening and close follow up should be considered in these patients.


Asunto(s)
Alphapapillomavirus/clasificación , Anemia de Fanconi/complicaciones , Enfermedades de la Boca/virología , Infecciones por Papillomavirus/complicaciones , Adolescente , Adulto , Anemia Aplásica/terapia , Niño , Preescolar , ADN Viral/análisis , Anemia de Fanconi/terapia , Femenino , Estudios de Seguimiento , Técnicas de Genotipaje , Trasplante de Células Madre Hematopoyéticas , Papillomavirus Humano 16/aislamiento & purificación , Papillomavirus Humano 18/aislamiento & purificación , Papillomavirus Humano 6/aislamiento & purificación , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Adulto Joven
15.
Genes Brain Behav ; 9(4): 411-8, 2010 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-20132317

RESUMEN

We tested the hypothesis that the presence of AKT1 and AKTIP polymorphisms, target genes that encode key proteins in the signaling of dopaminergic and serotonergic systems, is associated with suicidal behavior in bipolar patients. The subjects were 273 patients diagnosed with bipolar disorder I or II (age = 41.4 +/- 12.9). TaqMan single-nucleotide polymorphism genotyping assays (AKT1: rs2494731, rs3803304, rs3730358, rs10149779, rs2494746, rs1130214 and rs249878; AKTIP: rs9302648 and rs7189819) were used. We found that the AKT1 marker showed an association with suicide attempts (rs1130214, P < 0.05) and attempted violent attacks (rs2494746, P < 0.05). One out of the seven tested markers of AKT1 attained significant genotype association with violent attempt (rs2494731; P < 0.05). A significant association was detected in the AKT1 haplotype test. We did not observe an association between suicidal behavior and AKTIP variants and also did not find an interaction between AKTIP and AKT1 polymorphisms. In addition, we found that demographic and clinical data are associated with lifetime history of suicide attempts. Our data suggest that demographic and clinical characteristics and AKT1 single markers and haplotypes, but not AKTIP polymorphisms or interactions between AKT1 and AKTIP, are associated with increased risk for suicidal behavior in bipolar patients.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Reguladoras de la Apoptosis/genética , Trastorno Bipolar/genética , Trastorno Bipolar/metabolismo , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Proteínas Proto-Oncogénicas c-akt/genética , Suicidio/psicología , Adulto , Trastorno Bipolar/enzimología , Femenino , Marcadores Genéticos/genética , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Intento de Suicidio/psicología
16.
Rev. esp. investig. quir ; 13(1): 12-16, ene.-mar. 2010. tab, ilus
Artículo en Español | IBECS | ID: ibc-89023

RESUMEN

INTRODUCCIÓN. Fórmula De Marco es una nueva formulación de la procaina, con un importante efecto en la regeneración tisular. Su mecanismo de acción se basa en la síntesis de nuevas proteínas, utilizando grupos etilaminos para activar el re-emplazamiento tisular. Esta regeneración celular puede producir reversibilidad de algunas lesiones a la normalidad, sin ocasionar daño en otros tejidos. OBJETIVO. Estudiar el comportamiento del tratamiento con Fórmula De Marco sobre el sistema inmune en pacientes con pie diabético isquémico infectado y que tengan presencia de microalbuminuria. SUJETOS Y MÉTODOS. Se realizó un estudio prospectivo en pacientes diabéticos tipo 2 portadores de un pie diabético isquémico infectado, divididos en 2 grupos: un grupo recibió tratamiento convencional más Fórmula De Marco y el otro, recibió tratamiento convencional solamente. Antes y después del tratamiento fue determinada la glicemia en ayunas, la microalbuminuria, las pruebas funcionales in vivo de los linfocitos T, el índice fagocítico y la actividad microbicida de los leucocitos polimorfonucleares, así como los niveles de IgG. RESULTADOS. Las pruebas funcionales in vivo mejoraron un 50% la capacidad de respuesta inmune de las células T. Se logró una disminución significativa de la microalbuminuria. En general, los resultados en las pruebas de laboratorio mostraron ser favorables, tendiendo a la normalidad de sus valores. CONCLUSIONES. Los resultaron permitieron concluir que Fórmula De Marco además de ser una variable predictora de complicaciones vasculares, ejerce una acción inmunomoduladora sobre el sistema inmune de los pacientes con pie diabético isquémico infectado y disminuye la microalbuminuria independiente de la lesión del pie diabético (AU)


INTRODUCTION. De Marco Formula (DMF) is a novel formulation of procaine and Polyvynylpyrrolidone, with an effect important on tissue regeneration. Their mechanism of action is based on the new protein synthesis; make using the group ethylamine for push the tissue restoring. This cellular regeneration may produce that some injury will be returnable at the normality within cause damage in other tissue. OBJECTIVE. Behavior study of the De Marco Formula treatment on the immune system in patients with infected ischemic diabetic foot who had present increased level of the microalbuminuria. METHODS. A prospective trial was realized in type 2 diabetic patients with infected ischemic diabetic foot, who were assigned in two groups: a group received conventional therapy plus De Marco Formula and the other received conventional therapy alone. The following parameters were studied before and after the treatment period: blood glucose, microalbuminuria, in vivo delayed cutaneous hypersensitivity of T cells, leukocyte phagocytic index, microbicidal activity, and serum IgG concentration. RESULT. In vivo delayed cutaneous hypersensitivity improved the capacity the immune response of T cells in 50%. A decrease statistical significance of microalbuminuria was obtained. The results of the laboratory test were considered favorable. CONCLUSION. We concluded that De Marco Formula therapy is the predictor variable of the vascular complications in this atients and eject an immunomodulating action on the immune system in patients with infected ischemic diabetic foot and decrease the microalbuminuria level (AU)


Asunto(s)
Humanos , Pie Diabético/cirugía , Ajuste de Riesgo/métodos , Sistema Inmunológico/fisiopatología , Albuminuria/diagnóstico , Angiopatías Diabéticas/cirugía , Factores Inmunológicos/análisis
17.
Vox Sang ; 98(2): 172-80, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19695012

RESUMEN

BACKGROUND AND OBJECTIVES: Autologous peripheral blood stem cell transplantation has recently become a standard therapeutic approach to virus-related or infected haematological malignancies. Collection, manipulation, storage and thawing of leukapheresis products in this subset of patients require strict monitoring to prevent infection risk for operators and risk of contamination for other stored bags. MATERIALS AND METHODS: This is a non-randomized retrospective observational study. In the 2000-2002 period, a single bag freezing procedure was used for autologous peripheral blood stem cell transplantation. Bags were stored in tanks containing liquid and gas phase nitrogen. In 2002, the processing procedure was revised, and a second additional safety bag and a new storage tank containing jacketed liquid nitrogen have been used. RESULTS: A total of 524 bags were thawed, of which 121 processed with the single bag method and 403 with the double bag method. Forty-nine and 109 patients were infused respectively. The observed rupture rate with the single bag in liquid and gas phase nitrogen was 17 and 2.5%, respectively, against a rupture rate as little as 0.24% with the new methodology. Viability revealed levels of 84.4% +/- 6.1% and 96.9% +/- 2.4% for the single and double-bag respectively. This statistically significant (P < 0.0001) difference correlated with better neutrophil engraftment. CONCLUSIONS: The new proposed method, based on a double bag and storage freezer without liquid or gas phase nitrogen into a cryogenic chamber, significantly reduces bag rupture and bio-hazard and improves stem cell viability and neutrophil engraftment remarkably.


Asunto(s)
Conservación de la Sangre/métodos , Criopreservación/métodos , Células Madre Hematopoyéticas , Trasplante de Células Madre de Sangre Periférica/métodos , Recuento de Células/métodos , Separación Celular/métodos , Congelación , Humanos , Embalaje de Productos/métodos , Seguridad , Trasplante Autólogo
18.
Arq Bras Oftalmol ; 72(4): 567-72, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19820804

RESUMEN

Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Although the etiology of AMD remains largely unknown, numerous studies have suggested that both genes and environmental risk factors significantly influence the risk of developing AMD. Recently, single nucleotide polymorphisms, DNA sequence variations found within the complement factor H (CFH) gene, have been found to be strongly associated with the development of AMD. Several other genes have had at least one positive association finding and deserve further exploration. The purpose of this review is to provide an extensive report of the current data of AMD genetics and the contribution of this knowledge helps to the better understanding of its pathophysiology.


Asunto(s)
Degeneración Macular/genética , Progresión de la Enfermedad , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Humanos , Polimorfismo Genético , Factores de Riesgo
19.
Oral Dis ; 15(1): 106-10, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19017279

RESUMEN

Central giant cell lesion (CGCL) is a reactive bone lesion that occurs mainly in the mandible, characterized by the multinucleated osteoclast-like giant cells in a background of oval to spindle-shaped mononuclear cells. The etiology is unknown and occurs more commonly in young adults. Cherubism, a rare disease found predominantly in females has histologic characteristics indistinguishable from those of CGCL and is caused by mutations mostly present in exon 9 of the SH3BP2 gene. In this study, we investigated four cases of CGCL and one case of cherubism. DNA was extracted from peripheral blood and tumor tissue and all coding and flanking regions of the SH3BP2 amplified by PCR and directly sequenced to identify underlying mutations. Two novel mutations were found; a heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and a heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. These findings open a new window to investigate the possible relationship between the pathogenesis of the cherubism and CGCL.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Querubismo/genética , Granuloma de Células Gigantes/genética , Enfermedades Maxilomandibulares/genética , Mutación/genética , Dominios Homologos src/genética , Adenina , Adulto , Niño , Citosina , Exones/genética , Femenino , Mutación de Línea Germinal/genética , Glutamina/genética , Heterocigoto , Humanos , Leucina/genética , Masculino , Metionina/genética , Persona de Mediana Edad , Mutación Missense/genética , Treonina/genética , Timina , Adulto Joven
20.
Perfusion ; 23(3): 187-92, 2008 May.
Artículo en Inglés | MEDLINE | ID: mdl-19029270

RESUMEN

Erythropoietin (EPO) exerts a tissue-protective activity in several non-haematopoietic tissues such as heart, brain, spinal cord and muscle. We evaluated the relationship between pre-operative endogenous EPO blood levels and myocardial damage in patients undergoing cardiopulmonary bypass (CPB). Furthermore, we investigated whether pre-operative administration of a single bolus of 40,000 IU epoetin alpha (EPOalpha) would reduce troponin I or creatine kinase isoenzyme (CK-MB) after on-pump coronary artery bypass graft (CABG) surgery. Sixty-seven patients (45 CABG, 22 valvular surgery) were enrolled. EPO was measured in the pre-surgical period and correlated to post-surgical troponin I and CK-MB peaks. Subsequently, forty patients scheduled for CABG were randomized into two groups, receiving, respectively, a) standard medical and surgical treatment (20 patients) and b) the same treatment plus 40,000 IU of EPOalpha in a single bolus injection in the immediate pre-surgical period (20 patients). In our population, we did not find any correlation between pre-surgical EPO and post-surgical troponin I or CK-MB peaks (p Pearson > 0.05). Furthermore, patients treated with EPOalpha did not show differences compared to the control group in either troponin I (1.7+/-1.8 vs 2.6+/-3.4, p>0.05) or CK-MB (19.6 +/-13.2 vs 17.1+/-12.6, p>0.05) peaks measured in the post-surgical period.


Asunto(s)
Puente Cardiopulmonar/efectos adversos , Puente de Arteria Coronaria Off-Pump , Eritropoyetina/sangre , Eritropoyetina/uso terapéutico , Daño por Reperfusión/prevención & control , Anciano , Forma MB de la Creatina-Quinasa/sangre , Epoetina alfa , Eritropoyetina/administración & dosificación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas Recombinantes , Daño por Reperfusión/sangre , Daño por Reperfusión/etiología , Troponina I/sangre
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...