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1.
Arch. Soc. Esp. Oftalmol ; 95(9): 459-462, sept. 2020. ilus, tab
Artículo en Español | IBECS | ID: ibc-201789

RESUMEN

El linfoma anaplásico de células grandes primario cutáneo (LACGc) forma parte del espectro de la enfermedad linfoproliferativa cutánea CD30+. Su afectación palpebral es muy rara, y en todos los casos descritos en la literatura afecta al párpado superior. En el presente caso clínico se describe un LACGc palpebral de localización atípica. Una mujer de 39 años sin antecedentes de interés presentó una lesión de crecimiento rápido en canto medio palpebral de aspecto inflamatorio-infeccioso. Tras una semana de antibioterapia oral sin respuesta, se realizó una biopsia excisional. Con análisis anatomopatológico compatible y estudio de extensión negativo, se catalogó como LACGc. Tras 2 años de seguimiento la paciente no ha presentado recidiva de la enfermedad. La afectación de los párpados por un LACGc es poco frecuente y potencialmente grave. Por ello, es necesario ampliar la información sobre el diagnóstico, tratamiento y curso de esta enfermedad


Cutaneous anaplastic large-cell lymphoma (cALCL) is a condition within CD30 lymphoid proliferations spectrum. Involving the eyelid is unusual and all cases found in the literature are located in the upper eyelid. In this case we report an cALCL atypical presentation. A 39 year-old woman with no significant medical history, presents a fast-growing mass in the medial canthus, with inflamatory-infectious appearance. After a week with antibiotics with no response, an excisional biopsy was practiced. The hystopathology analysis with a negative systemic work up confirmed the diagnosis of a cALCL. After two-year follow up, patient is asymptomatic. cALCL involving the eyelid are rare but potentially life-threatening disorders, so more information about diagnosis, treatment and follow up is needed


Asunto(s)
Humanos , Femenino , Adulto , Linfoma Anaplásico Cutáneo Primario de Células Grandes/patología , Aparato Lagrimal/patología , Neoplasias Cutáneas/patología , Neoplasias de los Párpados/patología , Linfoma Anaplásico Cutáneo Primario de Células Grandes/tratamiento farmacológico , Aparato Lagrimal/efectos de los fármacos , Neoplasias Cutáneas/tratamiento farmacológico , Biopsia , Neoplasias de los Párpados/tratamiento farmacológico
2.
Arch Soc Esp Oftalmol (Engl Ed) ; 95(9): 459-462, 2020 Sep.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32513417

RESUMEN

Cutaneous anaplastic large-cell lymphoma (cALCL) is a condition within CD30 lymphoid proliferations spectrum. Involving the eyelid is unusual and all cases found in the literature are located in the upper eyelid. In this case we report an cALCL atypical presentation. A 39 year-old woman with no significant medical history, presents a fast-growing mass in the medial canthus, with inflamatory-infectious appearance. After a week with antibiotics with no response, an excisional biopsy was practiced. The hystopathology analysis with a negative systemic work up confirmed the diagnosis of a cALCL. After two-year follow up, patient is asymptomatic. cALCL involving the eyelid are rare but potentially life-threatening disorders, so more information about diagnosis, treatment and follow up is needed.

3.
Arch. Soc. Esp. Oftalmol ; 92(11): 547-551, nov. 2017. ilus
Artículo en Español | IBECS | ID: ibc-167816

RESUMEN

Caso clínico: Un varón de 87 años desarrolló en el párpado superior un nódulo de crecimiento lento, no doloroso y bien definido. El tumor de 1 cm de diámetro estaba pigmentado y adherido a planos profundos. El estudio anatomopatológico fue compatible con un carcinoma de células renales. El estudio de extensión mostró una masa tumoral en cada riñón y múltiples metástasis pulmonares. Conclusión: El oftalmólogo puede jugar un papel importante en el diagnóstico del cáncer metastásico, cuando la enfermedad ocular está presente. Por tanto, cabe destacar la relevancia de realizar una biopsia en aquellas lesiones sospechosas y/o recurrentes del párpado (AU)


Case report: An 87-year-old male presented with a slow-growing, painless and well defined nodule in the upper eyelid. The tumour measured 1cm, and was pigmented and adhered to deep planes. The histopathology analysis was compatible with renal cell carcinoma. The extension study showed a tumour mass in each kidney, as well as multiple pulmonary metastases. Discussion: The ophthalmologist can play an important role in the diagnosis of metastatic cancer when eye disease is present. Therefore, the importance of a biopsy should be noted in those suspicious and/or recurrent lesions of the eyelid (AU)


Asunto(s)
Humanos , Masculino , Anciano de 80 o más Años , Neoplasias de los Párpados/secundario , Neoplasias Renales/patología , Metástasis de la Neoplasia/patología , Neoplasias Pulmonares/secundario
4.
Nat Prod Rep ; 34(5): 496-513, 2017 05 10.
Artículo en Inglés | MEDLINE | ID: mdl-28443894

RESUMEN

Covering: up to 2017The review summarizes results up to 2017 on chemosensory cues occurring in both aquatic and terrestrial environments. The chemicals are grouped by their physicochemical properties to compare their potential mobility in the different media. In contrast to what is widely asserted in the literature, the report emphasizes that living organisms encounter and sense molecules of various degrees of solubility and volatility both on land and in aquatic environments. The picture that emerges from the review suggests a substantial revision of the traditional definitions of the chemical senses based on their spatial range, which is currently orienting the literature on chemosensory signaling, in favor of a new vision based on the natural products that are the actual mediators of the chemosensory perceptions. According to this perspective, natural product chemistry is a powerful tool with which to explore the evolutionary history of the chemical senses.


Asunto(s)
Ambiente , Olfato , Gusto , Evolución Biológica , Humanos , Estructura Molecular
5.
Arch Soc Esp Oftalmol ; 92(11): 547-551, 2017 Nov.
Artículo en Inglés, Español | MEDLINE | ID: mdl-28065429

RESUMEN

CASE REPORT: An 87-year-old male presented with a slow-growing, painless and well defined nodule in the upper eyelid. The tumour measured 1cm, and was pigmented and adhered to deep planes. The histopathology analysis was compatible with renal cell carcinoma. The extension study showed a tumour mass in each kidney, as well as multiple pulmonary metastases. DISCUSSION: The ophthalmologist can play an important role in the diagnosis of metastatic cancer when eye disease is present. Therefore, the importance of a biopsy should be noted in those suspicious and/or recurrent lesions of the eyelid.


Asunto(s)
Carcinoma de Células Renales/secundario , Neoplasias de los Párpados/secundario , Neoplasias Renales/patología , Anciano de 80 o más Años , Carcinoma de Células Renales/diagnóstico , Humanos , Neoplasias Renales/diagnóstico , Masculino
6.
Mar Environ Res ; 96: 2-11, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24582326

RESUMEN

The green alga Caulerpa racemosa is a non-native, invasive species in the Mediterranean, and an important stressor for several native organisms. The algal capacity to produce secondary metabolites has been suggested to modulate success of the C. racemosa invasion, although many of potentially involved biological pathways still remain unexplored. In this respect, the aim of the present study was to investigate some molecular and cellular effects in the white seabream Diplodus sargus, an ecologically key species, which included the alien C. racemosa in its diet. Organisms were sampled in 2 seasonal periods from 3 locations of Southern Italy, each characterized by different levels of algal abundance. The level of caulerpin, one of the main secondary algal metabolites, in fish tissues has been used as an indicator of the trophic exposure to the seaweed and related with molecular and cellular responses. Chemical analyses indicated that fish from invaded sites can accumulate caulerpin, with liver concentrations ranging from a few up to hundreds of µg/g. Biomarkers analyses revealed only limited alterations of the main antioxidant defences, such as glutathione reductase and levels of glutathione; on the other hand, increased enzymatic activities of cytochrome P450, glutathione S-transferases and acyl CoA oxidase, as well as enhanced gene transcription for peroxisome proliferator-activated receptor alpha, cytochrome P4501A and vitellogenin 1 were observed in fish more exposed to C. racemosa as indicated by liver concentrations of caulerpin higher than 50 µg/g. Despite a direct molecular relationship with this algal metabolite could not be established, our results suggest that a C. racemosa enriched diet can modulate biotransformation and fatty acids metabolism of D. sargus. Assessing whether similar effects represent short- or long-term effects will be of crucial importance to understand consequences on the general health status and reproductive performance of exposed key fish species in the Mediterranean region.


Asunto(s)
Caulerpa/química , Exposición a Riesgos Ambientales , Proteínas de Peces/genética , Cadena Alimentaria , Indoles/farmacología , Perciformes/genética , Perciformes/metabolismo , Animales , Sistema Enzimático del Citocromo P-450/genética , Sistema Enzimático del Citocromo P-450/metabolismo , Monitoreo del Ambiente , Femenino , Proteínas de Peces/metabolismo , Especies Introducidas , Italia , Hígado/metabolismo , Datos de Secuencia Molecular , PPAR alfa/genética , PPAR alfa/metabolismo , Estaciones del Año , Análisis de Secuencia de ADN , Vitelogeninas/genética , Vitelogeninas/metabolismo
7.
Arch. Soc. Esp. Oftalmol ; 88(12): 473-481, dic. 2013. ilus, graf, tab
Artículo en Español | IBECS | ID: ibc-116998

RESUMEN

Objetivo: Evaluar los efectos de la administración tópica de bevacizumab y sunitinib sobre la microdensidad vascular y la morfología de la neovascularización (NV) corneal. Método: Se distribuyeron 33 conejos en 3 grupos: grupo 1 (control; n = 11): suero salino; grupo 2 (n = 11): bevacizumab 5 mg/ml y grupo 3 (n = 11): sunitinib 0,5 mg/ml. Se realizó un modelo de NV corneal mediante suturas en el ojo derecho de cada conejo. Se administró cada tratamiento por vía tópica 3 veces al día durante 14 días. Posteriormente, se procesaron las córneas para el estudio de la microdensidad vascular (6 ojos) y el análisis de la morfología vascular (5 ojos) mediante técnicas histológicas de tinción enzimática. Resultados: La respuesta vascular del grupo 3 quedó limitada a unas pequeñas formaciones arborescentes con varios ejes vasculares en comparación con la extensa, frondosa y direccional NV corneal de los grupos 1 y 2. Las secciones histológicas próximas al limbo no mostraron diferencias en los estudios de microdensidad vascular entre los 3 grupos. No obstante, la media del área de sección de los vasos (MASV) del grupo 3 fue un 41,88% menor que la del grupo 1 y un 19,19% menor que la del grupo 2. En las secciones distales, no hubo diferencias entre los grupos 1 y 2. Sin embargo, el grupo 3 se caracterizó por la ausencia de neovasos. Conclusiones: Bevacizumab no produjo cambios en la morfología de los vasos ni en la microdensidad vascular. Sunitinib redujo el calibre de los neovasos e indujo cambios en el árbol vascular(AU)


Objective: To evaluate the effects of topical bevacizumab and topical sunitinib on vascular microdensity and morphology of corneal neovascularization (NV). Methods: A total of 33 rabbits were distributed into 3 groups: group 1 (control; n=11): saline; group 2 (n=11): bevacizumab 5 mg/ml; and group 3 (n=11): sunitinib 0.5 mg/ml. A corneal NV model was used, based on sutures in the right eye of each rabbit. Each treatment was administered topically 3 times daily for 14 days. Corneas were then processed for the study of vascular microdensity (6 eyes) and vascular morphology analysis (5 eyes) using enzymatic staining histological techniques. Results: The vascular response in group 3 was limited to small-sized tree formations with various vascular axes compared with the extensive, lush and directional corneal NV of group 1 and 2. In the histological sections near the limb, there were no differences in vascular microdensity studies between the three groups. However, the mean sectional area of vessels (MSAV) in group 3 was 41.88% lower than in group 1 and 19.19% lower than in group 2. In distal sections, there were no differences between groups 1 and 2. However, group 3 was characterized by absence of vessels. Conclusions: Bevacizumab produced no changes in the morphology of the vessels or the vascular microdensity. Sunitinib reduced the size of the new vessels and induced changes in the vascular tree (AU)


Asunto(s)
Animales , Conejos , Neovascularización de la Córnea/tratamiento farmacológico , Anticuerpos Monoclonales/uso terapéutico , Administración Tópica , Modelos Animales de Enfermedad
8.
Arch Soc Esp Oftalmol ; 88(12): 473-81, 2013 Dec.
Artículo en Español | MEDLINE | ID: mdl-24257257

RESUMEN

OBJECTIVE: To evaluate the effects of topical bevacizumab and topical sunitinib on vascular microdensity and morphology of corneal neovascularization (NV). METHODS: A total of 33 rabbits were distributed into 3 groups: group 1 (control; n=11): saline; group 2 (n=11): bevacizumab 5mg/ml; and group 3 (n=11): sunitinib 0.5mg/ml. A corneal NV model was used, based on sutures in the right eye of each rabbit. Each treatment was administered topically 3 times daily for 14 days. Corneas were then processed for the study of vascular microdensity (6 eyes) and vascular morphology analysis (5 eyes) using enzymatic staining histological techniques RESULTS: The vascular response in group 3 was limited to small-sized tree formations with various vascular axes compared with the extensive, lush and directional corneal NV of group 1 and 2. In the histological sections near the limb, there were no differences in vascular microdensity studies between the three groups. However, the mean sectional area of vessels (MSAV) in group 3 was 41.88% lower than in group 1 and 19.19% lower than in group 2. In distal sections, there were no differences between groups 1 and 2. However, group 3 was characterized by absence of vessels. CONCLUSIONS: Bevacizumab produced no changes in the morphology of the vessels or the vascular microdensity. Sunitinib reduced the size of the new vessels and induced changes in the vascular tree.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Córnea/irrigación sanguínea , Neovascularización de la Córnea/tratamiento farmacológico , Indoles/uso terapéutico , Inhibidores de Proteínas Quinasas/uso terapéutico , Pirroles/uso terapéutico , Inhibidores de la Angiogénesis/farmacología , Animales , Anticuerpos Monoclonales Humanizados/farmacología , Arterias/efectos de los fármacos , Arterias/ultraestructura , Bevacizumab , Neovascularización de la Córnea/etiología , Neovascularización de la Córnea/patología , Modelos Animales de Enfermedad , Evaluación Preclínica de Medicamentos , Sinergismo Farmacológico , Indoles/farmacología , Masculino , Factor de Crecimiento Derivado de Plaquetas/antagonistas & inhibidores , Inhibidores de Proteínas Quinasas/farmacología , Pirroles/farmacología , Conejos , Sunitinib , Suturas/efectos adversos , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Venas/efectos de los fármacos , Venas/ultraestructura
9.
Public Health Genomics ; 16(6): 288-98, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24503589

RESUMEN

BACKGROUND: Registries are considered key instruments for developing rare disease (RD) clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed, it is usually the case that no single institution, and in many cases no single country, has sufficient data to provide results that can be applied broadly to clinical and translational research. However, the fragmentation and heterogeneity of the registries, which are often the result of spontaneous initiatives, limit the general applicability of their observations. METHODS: An inquiry has been carried out by the EPIRARE, a European Union (EU)-funded project ('Building Consensus and Synergies for the EU Registration of Rare Disease Patients') aiming at paving the way to the creation of a European Platform for RD Registries, by means of an on-line questionnaire among European RD registries on their main activities and needs, the way they deal with methodological, technical and regulatory issues and the way they find resources to carry on their activities. RESULTS: In spite of the heterogeneity of the European registries, some elements of relevance for an action to improve the situation of patient registries in the EU are apparent. The needs more frequently indicated by registry holders were financial support, motivation of data providers, data quality assessment, improvement of communication and visibility, and extension of collaborations. Moreover, the registry holders were in favor of a common EU platform providing services for RD registries. CONCLUSION: It appears that the current situation of the European registries provides the transition towards a more uniform, higher quality and better coordinated approach.


Asunto(s)
Evaluación de Necesidades , Garantía de la Calidad de Atención de Salud , Enfermedades Raras , Sistema de Registros , Investigación Biomédica , Europa (Continente)/epidemiología , Humanos , Enfermedades Raras/diagnóstico , Enfermedades Raras/epidemiología , Enfermedades Raras/terapia , Sistema de Registros/ética , Encuestas y Cuestionarios
10.
Public Health Genomics ; 16(6): 299-304, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24503590

RESUMEN

BACKGROUND: The current situation of rare disease (RD) registries is rather heterogeneous, and new ways to support the registration of RD patients are being sought in the European Union (EU) and the US. The project 'Building Consensus and Synergies for the EU Registration of RD Patients', funded by the EU, aimed to define a model platform for EU RD registries. METHODS: A number of surveys and extensive consultations among registry stakeholders have been carried out to study how the platform can best fulfill their needs. RESULTS: This web-based, multidisease and multipurpose platform is intended to provide a number of functions: a metadata and data repository function supporting the planning of research studies and the production of predefined outputs for the funding organizations and the public, provision of tools and resources of use to registries, promotion of registration and networking among patients and professionals. CONCLUSION: Its main impact is expected to be on data and procedures standardization, on the establishment of new registries, on the sustainability of the smaller ones, and on the registration of those RDs for which a dedicated registry is not sustainable, e.g. ultra-rare diseases or diseases for which there is no special research, clinical or economic interest. It will also impact on the production of sounder information on RD and RD-dedicated health systems, by promoting registry data comparability and quality.


Asunto(s)
Bases de Datos Factuales , Modelos Organizacionales , Enfermedades Raras/epidemiología , Sistema de Registros/normas , Manejo de la Enfermedad , Europa (Continente)/epidemiología , Humanos , Internet
11.
Arch Soc Esp Oftalmol ; 86(10): 331-4, 2011 Oct.
Artículo en Español | MEDLINE | ID: mdl-22004579

RESUMEN

INTRODUCTION: Haemorrhage from an entire persistent hyaloid artery (PHA) is an uncommon anomaly. CASE REPORT: A 52 year old female presented with blurred vision in her amblyopic eye. Biomicroscopy revealed a blood filled PHA which was inserted in the posterior crystalloid. Ophthalmoscopy showed a mild vitreous haemorrhage. A tubular structure showing a hypo-reflexivity inside the PHA was able to be analysed using optical coherence tomography (OCT). However, Doppler ultrasound did not detect the presence of active blood flow within it. CONCLUSIONS: The performance of non-invasive imaging tests such as the OCT and Doppler ultrasound may be useful in the study of vitreous haemorrhage associated with PHA.


Asunto(s)
Vítreo Primario Hiperplásico Persistente/complicaciones , Hemorragia Vítrea/etiología , Femenino , Humanos , Persona de Mediana Edad
12.
Arch. Soc. Esp. Oftalmol ; 86(10): 331-334, oct. 2011. ilus
Artículo en Español | IBECS | ID: ibc-97885

RESUMEN

Introducción: La hemorragia vítrea secundaria a una arteria hialoidea persistente (AHP) íntegra es una anomalía infrecuente. Caso clínico: Una mujer de 52 años presentó disminución de visión en su ojo ambliope. La biomicroscopia reveló una AHP rellena de sangre que se insertaba en la cristaloides posterior. En la oftalmoscopia se objetivó un hemovítreo leve. La tomografía de coherencia óptica (TCO) permitió analizar la estructura tubular de la AHP mostrando un interior hiporreflectivo. Sin embargo, el eco-doppler no detectó la presencia de flujo sanguíneo activo en su interior. Conclusiones: La realización de pruebas de imagen no invasivas que incluyen la TCO y el eco-doppler pueden ser útiles en el estudio de una hemorragia asociada a una AHP(AU)


Introduction: Haemorrhage from an entire persistent hyaloid artery (PHA) is an uncommon anomaly. Case report: A 52 year old female presented with blurred vision in her amblyopic eye. Biomicroscopy revealed a blood filled PHA which was inserted in the posterior crystalloid. Ophthalmoscopy showed a mild vitreous haemorrhage. A tubular structure showing a hypo-reflexivity inside the PHA was able to be analysed using optical coherence tomography (OCT). However, Doppler ultrasound did not detect the presence of active blood flow within it. Conclusions: The performance of non-invasive imaging tests such as the OCT and Doppler ultrasound may be useful in the study of vitreous haemorrhage associated with PHA(AU)


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Vítreo Primario Hiperplásico Persistente/complicaciones , Vítreo Primario Hiperplásico Persistente/diagnóstico , Vítreo Primario Hiperplásico Persistente/terapia , Hemorragia Vítrea/complicaciones , Hemorragia Vítrea/diagnóstico , Ambliopía/complicaciones , Vítreo Primario Hiperplásico Persistente/fisiopatología , Vítreo Primario Hiperplásico Persistente , Hemorragia Vítrea/etiología , Hemorragia Vítrea , Microscopía , Agudeza Visual/efectos de la radiación , Tomografía de Coherencia Óptica/métodos , Tomografía de Coherencia Óptica/tendencias , Angiografía/instrumentación , Angiografía
13.
Clin Genet ; 77(1): 70-8, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19793111

RESUMEN

Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To further evaluate the role of CYP1B1 mutations in POAG we extended our previous association study and carried out a functional analysis of the mutations identified by polymerase chain reaction (PCR) DNA sequencing of the three exons of the gene in a total of 245 unrelated Spanish patients and 326 control subjects. Eight of nine different mutations identified in these patients were cloned and functionally assessed by measuring ethoxyresorufin O-deethylation activity and CYP1B1 stability in transiently transfected HEK-293T cells. All these mutants showed reduced catalytic activity, ranging from 20% to 60% of wild-type and/or decreased protein stability and, therefore, they were classified as hypomorphic alleles. No null alleles were identified in these patients. We found heterozygous hypomorphic CYP1B1 mutations in 17 (6.7%) patients and in seven controls (2.1%) showing that these mutations are associated with an increased risk of POAG (p = 0.005; odds ratio = 3.2; 95% confidence interval = 1.30-9.19). Our data suggest that hypomorphic CYP1B1 mutations are, to date, the main known genetic risk factor in POAG.


Asunto(s)
Hidrocarburo de Aril Hidroxilasas/genética , Glaucoma de Ángulo Abierto/genética , Anciano , Anciano de 80 o más Años , Secuencia de Aminoácidos , Línea Celular , Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP1B1 , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación , España
14.
Clin Genet ; 76(6): 552-7, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19807744

RESUMEN

Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2. Uniparental isodisomy (UPID) is also a rare condition in which a diploid offspring carries two identical copies of a single parental chromosome. By DNA sequence analysis, we found that a proband (female newborn) affected by PCG was homozygous for the null-allele F261L of the CYP1B1 gene. Her father was a heterozygous carrier for this mutation, and unexpectedly her mother carried only the G168D mutation in the heterozygous state. Segregation analysis of eight microsatellite markers which spanned the two arms of chromosome 2 was consistent with paternal isodisomy for this chromosome in the proband. To the best of our knowledge, this is the first reported case of UPID resulting in PCG and the fifth reported case of paternal UPID for chromosome 2. In addition, the absence of a clinical phenotype other than PCG confirms previous observations of there being no paternally imprinted genes in chromosome 2 that have major phenotypic effects. These results, along with previous reports, also suggest that UPID may play a relevant role in recessive diseases linked to chromosome 2.


Asunto(s)
Cromosomas Humanos Par 2/genética , Sistema Enzimático del Citocromo P-450/genética , Glaucoma/congénito , Glaucoma/genética , Homocigoto , Mutación/genética , Disomía Uniparental/genética , Sustitución de Aminoácidos/genética , Hidrocarburo de Aril Hidroxilasas , Secuencia de Bases , Segregación Cromosómica/genética , Citocromo P-450 CYP1B1 , Análisis Mutacional de ADN , Exones/genética , Familia , Padre , Femenino , Humanos , Recién Nacido , Masculino , Datos de Secuencia Molecular , Linaje
15.
Arch. Soc. Esp. Oftalmol ; 83(8): 479-486, ago. 2008. ilus, tab
Artículo en Es | IBECS | ID: ibc-66873

RESUMEN

Objetivo: Valorar los resultados quirúrgicos a largo plazo de la trabeculotomía-trabeculectomía combinada (TTC) como tratamiento preferente del glaucoma congénito primario. Métodos: Se seleccionaron 22 ojos de 14 pacientes consecutivos con glaucoma congénito primario en los que se empleó la TTC como procedimiento inicial entre 1981 y 2005. Se introdujo en una base de datos la información relacionada con la historia familiar, edad de inicio del glaucoma, síntomas y signos, integridad corneal, presión intraocular (PIO), gonioscopia, cirugía, complicaciones postoperatorias, agudeza visual, defecto de refracción, microscopia endotelial, longitud axial, campos visuales y estado final de la papila. El resultado de la presión intraocular fue evaluado usando el análisis de supervivencia Kaplan-Meier. Resultados: Las probabilidades acumuladas de éxito después de realizar una TTC como procedimiento inicial fueron del 95,5% a los 12 meses y del 78,2% a los 24 meses, manteniéndose esta proporción durante 15 años de seguimiento. Cuatro ojos (18,1%) requirieron más de un procedimiento debido a una PIO elevada persistente. Las complicaciones postoperatorias fueron raras. Al final del seguimiento, de 12 ojos de 8 pacientes cooperadores, la mejor agudeza visual corregida fue igual o mayor de 0,5 en el 75% (9 ojos). Conclusiones: La TTC como cirugía primaria ofrece una alta eficacia a largo plazo en el control de la PIO sin tratamiento farmacológico, mostrando mínimas complicaciones quirúrgicas y una baja incidencia de reintervenciones


Purpose: To evaluate the long-term outcome of trabeculotomy-trabeculectomy as the primary surgical treatment for primary congenital glaucoma. Methods: Twenty-two eyes of 14 consecutive patients with primary congenital glaucoma who underwent combined trabeculotomy-trabeculectomy as the initial procedure between 1981 and 2005 were selected for review. Records of ocular family history, age at onset of glaucoma, symptoms and signs, corneal integrity, intraocular pressure (IOP), gonioscopy, surgery, postoperative complications, visual acuity, refractive error, endothelial microscopy, axial length, visual fields and final status of the optic nerve head were entered into a computer database. The outcome, in terms of IOP obtained, was evaluated using Kaplan-Meier survival analysis. Results: Cumulative probabilities of success, after performing combined trabeculotomy-trabeculectomy as the initial operative procedure, were 95.5% after 12 months and 78.2% after 24 months, with this rate being maintained during 15 years of follow-up. Four eyes (18.1%) required more than one operative procedure because of persistent raised IOP. Postoperative complications were rare. At the time of the last follow-up, of 12 eyes from 8 co-operative patients, the final best spectacle-corrected visual acuity was 0.5 (20/40) or better, in 75% (9 eyes). Conclusion: Combined trabeculotomy-trabeculectomy as the primary surgical procedure offers long-term high efficacy in the control of IOP without medical treatment, is rarely associated with surgical complications, and a low need for re-operations (Arch Soc Esp Oftalmol 2008; 83: 479-486)


Asunto(s)
Humanos , Masculino , Femenino , Glaucoma/congénito , Glaucoma/diagnóstico , Glaucoma/cirugía , Trabeculectomía/métodos , Gonioscopía/métodos , Complicaciones Posoperatorias/diagnóstico , Presión Intraocular/genética , Hidroftalmía/genética , Corticoesteroides/uso terapéutico , Trabeculectomía , Fotofobia/complicaciones , Presión Intraocular/fisiología , Fotofobia/diagnóstico , Trabeculectomía/clasificación , Trabeculectomía/tendencias , Estudios Retrospectivos
16.
Arch Soc Esp Oftalmol ; 83(8): 479-85, 2008 Aug.
Artículo en Español | MEDLINE | ID: mdl-18661444

RESUMEN

PURPOSE: To evaluate the long-term outcome of trabeculotomy-trabeculectomy as the primary surgical treatment for primary congenital glaucoma. METHODS: Twenty-two eyes of 14 consecutive patients with primary congenital glaucoma who underwent combined trabeculotomy-trabeculectomy as the initial procedure between 1981 and 2005 were selected for review. Records of ocular family history, age at onset of glaucoma, symptoms and signs, corneal integrity, intraocular pressure (IOP), gonioscopy, surgery, postoperative complications, visual acuity, refractive error, endothelial microscopy, axial length, visual fields and final status of the optic nerve head were entered into a computer database. The outcome, in terms of IOP obtained, was evaluated using Kaplan-Meier survival analysis. RESULTS: Cumulative probabilities of success, after performing combined trabeculotomy-trabeculectomy as the initial operative procedure, were 95.5% after 12 months and 78.2% after 24 months, with this rate being maintained during 15 years of follow-up. Four eyes (18.1%) required more than one operative procedure because of persistent raised IOP. Postoperative complications were rare. At the time of the last follow-up, of 12 eyes from 8 co-operative patients, the final best spectacle-corrected visual acuity was 0.5 (20/40) or better, in 75% (9 eyes). CONCLUSION: Combined trabeculotomy-trabeculectomy as the primary surgical procedure offers long-term high efficacy in the control of IOP without medical treatment, is rarely associated with surgical complications, and a low need for re-operations


Asunto(s)
Glaucoma/cirugía , Trabeculectomía , Femenino , Estudios de Seguimiento , Glaucoma/congénito , Humanos , Lactante , Recién Nacido , Presión Intraocular , Estimación de Kaplan-Meier , Masculino , Complicaciones Posoperatorias , Factores de Tiempo , Resultado del Tratamiento , Agudeza Visual , Campos Visuales
17.
Arch Soc Esp Oftalmol ; 82(10): 645-8, 2007 Oct.
Artículo en Español | MEDLINE | ID: mdl-17929209

RESUMEN

INTRODUCTION: Bull horn injuries are severe lesions with a high risk of bacterial contamination, and are common in countries where people are fond of bullfighting and related spectacles. CASE REPORT: A 19-year-old man was referred with a penetrating wound in the superior left eyelid produced by a bull horn and resulting in a fracture of the orbital roof and a fat hernia. Prophylactic antibiotics and tetanus toxoid were administered and surgical reconstruction of the wound performed. Orbital cellulitis did develop, but this responded to systemic antibiotic therapy within a few days. DISCUSSION: Successful treatment of this type of lesion requires early diagnosis, meticulous surgical exploration and appropriate use of prophylactic antibiotics and tetanus toxoid.


Asunto(s)
Lesiones Oculares Penetrantes/complicaciones , Párpados/lesiones , Fracturas Orbitales/etiología , Adulto , Lesiones Oculares Penetrantes/cirugía , Párpados/cirugía , Humanos , Masculino , Fracturas Orbitales/cirugía
18.
Arch. Soc. Esp. Oftalmol ; 82(10): 645-648, oct. 2007. ilus
Artículo en Es | IBECS | ID: ibc-056454

RESUMEN

Introducción: Las heridas por asta de toro, comunes en países con afición al toreo y festejos relacionados, representan lesiones graves con un elevado grado de contaminación. Caso clínico: Varón de 19 años que sufrió traumatismo por asta de toro con herida penetrante en párpado superior izquierdo acompañada de fractura del techo de la órbita y hernia grasa. Se indicó profilaxis antibiótica y antitetánica y se reconstruyó quirúrgicamente la herida. Posteriormente, desarrolló una celulitis orbitaria, que evolucionó satisfactoriamente con tratamiento sistémico en unos pocos días. Discusión: El éxito del tratamiento en este tipo de heridas se fundamenta en una exploración meticulosa, diagnóstico temprano, manejo quirúrgico precoz y profilaxis antibiótica y antitetánica


Introduction: Bull horn injuries are severe lesions with a high risk of bacterial contamination, and are common in countries where people are fond of bullfighting and related spectacles. Case report: A 19-year-old man was referred with a penetrating wound in the superior left eyelid produced by a bull horn and resulting in a fracture of the orbital roof and a fat hernia. Prophylactic antibiotics and tetanus toxoid were administered and surgical reconstruction of the wound performed. Orbital cellulitis did develop, but this responded to systemic antibiotic therapy within a few days. Discussion: Successful treatment of this type of lesion requires early diagnosis, meticulous surgical exploration and appropriate use of prophylactic antibiotics and tetanus toxoid


Asunto(s)
Animales , Masculino , Adulto , Bovinos , Humanos , Lesiones Oculares Penetrantes/etiología , Lesiones Oculares Penetrantes/cirugía , Cuernos , Órbita/lesiones , Órbita/cirugía , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
19.
Eur J Ophthalmol ; 17(3): 445-7, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17534833

RESUMEN

PURPOSE: To report a case of unusual chronic endophthalmitis by Actinomyces neuii subspecies anitratus. METHODS: A 75-year-old man underwent uneventful phacoemulsification with implantation of a foldable posterior chamber intraocular lens in his right eye. Four weeks after surgery, a chronic post-operative endophthalmitis characterized by anterior chamber and vitreous cellular debris developed in this eye. Cultures were positive, and A neuii subspecies anitratus was identified by polymerase chain reaction and subsequent rRNA sequence analysis. Immediate treatment included intravitreal and intensive topical antibiotics along with oral ciprofloxacin. RESULTS: The condition improved rapidly, and 6 months after surgery the patient was asymptomatic, the best spectacle-corrected visual acuity was 20/22, and the anterior chamber was quiet. CONCLUSIONS: A neuii subspecies anitratus should be considered in the differential diagnosis of chronic endophthalmitis after cataract surgery. Polymerase chain reaction and subsequent RNA typing were useful in detecting the causative organism, and intravitreal antibiotics were successful.


Asunto(s)
Actinomyces/aislamiento & purificación , Actinomicosis/microbiología , Endoftalmitis/microbiología , Infecciones Bacterianas del Ojo/microbiología , Facoemulsificación , Complicaciones Posoperatorias , Actinomyces/genética , Actinomicosis/diagnóstico , Actinomicosis/tratamiento farmacológico , Anciano , Antiinfecciosos/uso terapéutico , Técnicas de Tipificación Bacteriana , Enfermedad Crónica , Quimioterapia Combinada , Endoftalmitis/diagnóstico , Endoftalmitis/tratamiento farmacológico , Infecciones Bacterianas del Ojo/diagnóstico , Infecciones Bacterianas del Ojo/tratamiento farmacológico , Humanos , Implantación de Lentes Intraoculares , Masculino , Reacción en Cadena de la Polimerasa , ARN Bacteriano/análisis
20.
Prog Mol Subcell Biol ; 43: 175-98, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-17153343

RESUMEN

Opisthobranch molluscs with both a rich variety of secondary metabolites and great biomedical potential represent the most intensively studied group of molluscs in natural product chemistry. We review here the chemical investigations into secondary metabolites of "sea slugs" from less-studied Indian, Chinese and Egyptian coasts, giving an overview of their most relevant biological activities. In addition to the biomedical interest of the metabolites, in which both structures and organisms often lose their own importance, this chapter emphasizes the phyletic and geographic distribution of the compounds in order to provide a further informational base for chemotaxonomical generalizations.


Asunto(s)
Biodiversidad , Factores Biológicos/química , Biología Marina , Moluscos/química , Animales , China , Egipto , India , Especificidad de la Especie
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